Incidental Mutation 'R2012:Adam22'
| ID |
219898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam22
|
| Ensembl Gene |
ENSMUSG00000040537 |
| Gene Name |
a disintegrin and metallopeptidase domain 22 |
| Synonyms |
MDC2, 2900022I03Rik |
| MMRRC Submission |
040021-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8122352-8418160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8167634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 675
(S675R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046838]
[ENSMUST00000050166]
[ENSMUST00000088744]
[ENSMUST00000088761]
[ENSMUST00000115386]
[ENSMUST00000115388]
[ENSMUST00000123168]
[ENSMUST00000139048]
[ENSMUST00000139841]
[ENSMUST00000153427]
[ENSMUST00000154935]
[ENSMUST00000197700]
[ENSMUST00000136524]
[ENSMUST00000153889]
[ENSMUST00000199853]
[ENSMUST00000126384]
[ENSMUST00000130315]
[ENSMUST00000136808]
[ENSMUST00000144241]
|
| AlphaFold |
Q9R1V6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046838
AA Change: S675R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: S675R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
7e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
9.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050166
AA Change: S675R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: S675R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
7.6e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.4e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
839 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088744
AA Change: S675R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: S675R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
41 |
186 |
4.2e-29 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
2.9e-65 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
378 |
9.2e-13 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
736 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
898 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088761
AA Change: S675R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: S675R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
8.1e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.6e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115386
AA Change: S675R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: S675R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
3.4e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
5.1e-9 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
5e-59 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
1.6e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115388
AA Change: S675R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: S675R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
8e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.5e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
872 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123168
|
| SMART Domains |
Protein: ENSMUSP00000122758
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124121
AA Change: S57R
|
| SMART Domains |
Protein: ENSMUSP00000122652
Gene: ENSMUSG00000040537
AA Change: S57R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ACR
|
2 |
52 |
5e-28 |
BLAST |
|
EGF
|
59 |
93 |
1.28e1 |
SMART |
|
transmembrane domain
|
118 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139048
|
| SMART Domains |
Protein: ENSMUSP00000116736
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139841
|
| SMART Domains |
Protein: ENSMUSP00000115775
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
164 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153427
|
| SMART Domains |
Protein: ENSMUSP00000120995
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154935
|
| SMART Domains |
Protein: ENSMUSP00000119409
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197700
|
| SMART Domains |
Protein: ENSMUSP00000142580
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136524
|
| SMART Domains |
Protein: ENSMUSP00000116422
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153889
|
| SMART Domains |
Protein: ENSMUSP00000123196
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199853
|
| SMART Domains |
Protein: ENSMUSP00000143097
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126384
|
| SMART Domains |
Protein: ENSMUSP00000118571
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130315
|
| SMART Domains |
Protein: ENSMUSP00000121156
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
170 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136808
|
| SMART Domains |
Protein: ENSMUSP00000122426
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144241
|
| SMART Domains |
Protein: ENSMUSP00000138353
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
94 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. The protein encoded by this gene is believed to lack metalloproteinase activity due to the lack of a critical catalytic motif. Mice lacking the encoded protein exhibit severe ataxia, hypomyelination and premature death. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap5 |
A |
T |
12: 76,376,122 (GRCm39) |
H518L |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,177,391 (GRCm39) |
Y202F |
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,637,427 (GRCm39) |
L412F |
possibly damaging |
Het |
| B4galt3 |
C |
T |
1: 171,100,118 (GRCm39) |
P121L |
probably damaging |
Het |
| BC034090 |
C |
T |
1: 155,097,178 (GRCm39) |
R640Q |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,761,900 (GRCm39) |
Y128N |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,372,222 (GRCm39) |
E173G |
probably damaging |
Het |
| C1qtnf1 |
T |
A |
11: 118,339,110 (GRCm39) |
F260Y |
probably benign |
Het |
| Ccdc14 |
G |
T |
16: 34,511,092 (GRCm39) |
G22V |
possibly damaging |
Het |
| Ccnc |
A |
T |
4: 21,741,955 (GRCm39) |
I135L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,239,878 (GRCm39) |
D1650G |
probably benign |
Het |
| Cherp |
A |
C |
8: 73,228,613 (GRCm39) |
N14K |
probably damaging |
Het |
| Clint1 |
C |
T |
11: 45,784,919 (GRCm39) |
T306I |
possibly damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,335,315 (GRCm39) |
Y85N |
probably damaging |
Het |
| D830013O20Rik |
A |
G |
12: 73,418,162 (GRCm39) |
|
noncoding transcript |
Het |
| Dapk1 |
A |
T |
13: 60,869,671 (GRCm39) |
K304N |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,044,449 (GRCm39) |
N3169Y |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,169,589 (GRCm39) |
I296K |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,764,515 (GRCm39) |
T621S |
probably benign |
Het |
| Eml6 |
G |
T |
11: 29,781,128 (GRCm39) |
Q635K |
possibly damaging |
Het |
| Exph5 |
G |
A |
9: 53,278,466 (GRCm39) |
M192I |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,518,266 (GRCm39) |
V523M |
probably damaging |
Het |
| Ggn |
A |
T |
7: 28,873,188 (GRCm39) |
|
probably null |
Het |
| Gimap8 |
A |
G |
6: 48,633,287 (GRCm39) |
T369A |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,724,080 (GRCm39) |
I790T |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,252,790 (GRCm39) |
A354V |
probably damaging |
Het |
| Habp4 |
G |
A |
13: 64,317,995 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,531,264 (GRCm39) |
W484R |
probably damaging |
Het |
| Herc4 |
G |
T |
10: 63,079,817 (GRCm39) |
|
probably benign |
Het |
| Igf2 |
C |
A |
7: 142,208,136 (GRCm39) |
E106D |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,718,797 (GRCm39) |
C428* |
probably null |
Het |
| Ipo11 |
A |
T |
13: 107,056,130 (GRCm39) |
N47K |
probably benign |
Het |
| Itga4 |
T |
G |
2: 79,108,138 (GRCm39) |
S197A |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,417,497 (GRCm39) |
M1788K |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,919 (GRCm39) |
T431I |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,075,044 (GRCm39) |
V523E |
probably benign |
Het |
| Klhl41 |
A |
T |
2: 69,513,840 (GRCm39) |
D573V |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,196 (GRCm39) |
H828Q |
possibly damaging |
Het |
| Leng8 |
T |
A |
7: 4,146,609 (GRCm39) |
V407D |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,288,215 (GRCm39) |
E608K |
probably benign |
Het |
| Mcf2 |
T |
A |
X: 59,122,574 (GRCm39) |
R850S |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,576,831 (GRCm39) |
N618S |
probably benign |
Het |
| Morn5 |
A |
T |
2: 35,942,950 (GRCm39) |
M17L |
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,881,053 (GRCm39) |
N26S |
probably damaging |
Het |
| Nostrin |
C |
A |
2: 68,975,111 (GRCm39) |
|
probably null |
Het |
| Npy4r |
T |
A |
14: 33,869,154 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or13a21 |
T |
A |
7: 139,999,024 (GRCm39) |
I221F |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,311,931 (GRCm39) |
I174V |
probably benign |
Het |
| Or2aj5 |
C |
T |
16: 19,424,881 (GRCm39) |
C179Y |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,659 (GRCm39) |
M238K |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,214 (GRCm39) |
Y259C |
possibly damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,342 (GRCm39) |
F105L |
probably benign |
Het |
| Or5d36 |
A |
G |
2: 87,901,063 (GRCm39) |
V221A |
probably benign |
Het |
| Oxt |
A |
G |
2: 130,418,572 (GRCm39) |
D61G |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,917,181 (GRCm39) |
L676P |
probably damaging |
Het |
| Pcdhb20 |
G |
A |
18: 37,638,127 (GRCm39) |
G218R |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,194,566 (GRCm39) |
S114R |
probably benign |
Het |
| Pfdn5 |
A |
G |
15: 102,234,956 (GRCm39) |
N54S |
possibly damaging |
Het |
| Phldb1 |
G |
T |
9: 44,639,333 (GRCm39) |
T15N |
possibly damaging |
Het |
| Pink1 |
A |
C |
4: 138,045,316 (GRCm39) |
S253A |
probably null |
Het |
| Plag1 |
A |
T |
4: 3,904,870 (GRCm39) |
L107Q |
probably damaging |
Het |
| Pld5 |
C |
A |
1: 175,791,579 (GRCm39) |
V476L |
probably benign |
Het |
| Pramel28 |
A |
T |
4: 143,692,637 (GRCm39) |
D121E |
probably benign |
Het |
| Prrt2 |
C |
T |
7: 126,618,581 (GRCm39) |
A295T |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,668 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,001,026 (GRCm39) |
T1039A |
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,847,859 (GRCm39) |
C1135Y |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,787,923 (GRCm39) |
N465K |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,872 (GRCm39) |
S510G |
probably benign |
Het |
| Satb1 |
G |
A |
17: 52,089,816 (GRCm39) |
Q344* |
probably null |
Het |
| Sdr16c5 |
A |
G |
4: 3,996,244 (GRCm39) |
I283T |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,199,574 (GRCm39) |
S316G |
possibly damaging |
Het |
| Siglec1 |
A |
T |
2: 130,925,277 (GRCm39) |
Y395N |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,651,701 (GRCm39) |
I5V |
probably benign |
Het |
| Slc27a2 |
T |
C |
2: 126,395,535 (GRCm39) |
V154A |
probably damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,731,634 (GRCm39) |
L119S |
probably damaging |
Het |
| Slc35g2 |
T |
A |
9: 100,435,120 (GRCm39) |
T184S |
possibly damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,733,727 (GRCm38) |
R46* |
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,983,201 (GRCm39) |
L504* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,850,370 (GRCm39) |
I586T |
possibly damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,041 (GRCm39) |
E194D |
possibly damaging |
Het |
| Spats2 |
A |
G |
15: 99,076,375 (GRCm39) |
E151G |
probably damaging |
Het |
| Sugp2 |
T |
A |
8: 70,695,861 (GRCm39) |
L278Q |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,207,322 (GRCm39) |
|
probably benign |
Het |
| Syde2 |
G |
T |
3: 145,694,163 (GRCm39) |
G137V |
possibly damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,584 (GRCm39) |
F1456L |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,220,862 (GRCm39) |
|
probably benign |
Het |
| Timd4 |
C |
A |
11: 46,710,857 (GRCm39) |
T253K |
possibly damaging |
Het |
| Tlr3 |
G |
T |
8: 45,855,823 (GRCm39) |
T119N |
possibly damaging |
Het |
| Tmc6 |
A |
G |
11: 117,660,232 (GRCm39) |
Y669H |
probably damaging |
Het |
| Tmem221 |
T |
C |
8: 72,008,458 (GRCm39) |
E194G |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,807,167 (GRCm39) |
V9F |
probably benign |
Het |
| Tpm1 |
G |
A |
9: 66,941,247 (GRCm39) |
Q135* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,665,917 (GRCm39) |
Y896* |
probably null |
Het |
| Tuba4a |
A |
T |
1: 75,192,983 (GRCm39) |
Y210* |
probably null |
Het |
| Tut7 |
A |
G |
13: 59,959,352 (GRCm39) |
V372A |
probably damaging |
Het |
| Vegfa |
T |
G |
17: 46,336,284 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,804 (GRCm39) |
T593S |
probably damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,536,840 (GRCm39) |
I508V |
probably benign |
Het |
| Vps33a |
G |
T |
5: 123,669,244 (GRCm39) |
|
probably null |
Het |
| Wasl |
T |
A |
6: 24,624,360 (GRCm39) |
N231I |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,578,703 (GRCm39) |
N426D |
probably benign |
Het |
| Zeb2 |
T |
G |
2: 44,887,962 (GRCm39) |
H350P |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,725 (GRCm39) |
F231S |
possibly damaging |
Het |
| Zfp180 |
T |
C |
7: 23,803,943 (GRCm39) |
S121P |
probably benign |
Het |
|
| Other mutations in Adam22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Adam22
|
APN |
5 |
8,177,333 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01368:Adam22
|
APN |
5 |
8,177,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01406:Adam22
|
APN |
5 |
8,180,212 (GRCm39) |
nonsense |
probably null |
|
|
IGL01463:Adam22
|
APN |
5 |
8,142,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01691:Adam22
|
APN |
5 |
8,142,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01798:Adam22
|
APN |
5 |
8,282,604 (GRCm39) |
splice site |
probably null |
|
|
IGL01975:Adam22
|
APN |
5 |
8,217,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02076:Adam22
|
APN |
5 |
8,186,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Adam22
|
APN |
5 |
8,184,845 (GRCm39) |
missense |
probably benign |
|
|
IGL02189:Adam22
|
APN |
5 |
8,380,029 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02859:Adam22
|
APN |
5 |
8,217,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Adam22
|
APN |
5 |
8,161,897 (GRCm39) |
nonsense |
probably null |
|
|
IGL03326:Adam22
|
APN |
5 |
8,177,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Adam22
|
APN |
5 |
8,199,210 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03354:Adam22
|
APN |
5 |
8,208,890 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03394:Adam22
|
APN |
5 |
8,217,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03047:Adam22
|
UTSW |
5 |
8,132,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:Adam22
|
UTSW |
5 |
8,230,591 (GRCm39) |
intron |
probably benign |
|
|
R0486:Adam22
|
UTSW |
5 |
8,380,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Adam22
|
UTSW |
5 |
8,193,036 (GRCm39) |
splice site |
probably benign |
|
|
R0866:Adam22
|
UTSW |
5 |
8,132,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1510:Adam22
|
UTSW |
5 |
8,202,408 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1562:Adam22
|
UTSW |
5 |
8,145,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Adam22
|
UTSW |
5 |
8,195,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Adam22
|
UTSW |
5 |
8,184,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Adam22
|
UTSW |
5 |
8,380,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Adam22
|
UTSW |
5 |
8,379,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Adam22
|
UTSW |
5 |
8,186,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2270:Adam22
|
UTSW |
5 |
8,171,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2271:Adam22
|
UTSW |
5 |
8,171,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2286:Adam22
|
UTSW |
5 |
8,195,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2304:Adam22
|
UTSW |
5 |
8,142,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2406:Adam22
|
UTSW |
5 |
8,230,064 (GRCm39) |
intron |
probably benign |
|
|
R2656:Adam22
|
UTSW |
5 |
8,167,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Adam22
|
UTSW |
5 |
8,167,583 (GRCm39) |
splice site |
probably null |
|
|
R3870:Adam22
|
UTSW |
5 |
8,182,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Adam22
|
UTSW |
5 |
8,180,514 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4092:Adam22
|
UTSW |
5 |
8,145,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4180:Adam22
|
UTSW |
5 |
8,199,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4247:Adam22
|
UTSW |
5 |
8,195,626 (GRCm39) |
missense |
probably benign |
|
|
R4486:Adam22
|
UTSW |
5 |
8,230,227 (GRCm39) |
intron |
probably benign |
|
|
R4629:Adam22
|
UTSW |
5 |
8,282,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4744:Adam22
|
UTSW |
5 |
8,128,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4839:Adam22
|
UTSW |
5 |
8,186,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Adam22
|
UTSW |
5 |
8,217,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Adam22
|
UTSW |
5 |
8,229,645 (GRCm39) |
intron |
probably benign |
|
|
R5061:Adam22
|
UTSW |
5 |
8,230,238 (GRCm39) |
intron |
probably benign |
|
|
R5312:Adam22
|
UTSW |
5 |
8,140,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Adam22
|
UTSW |
5 |
8,140,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Adam22
|
UTSW |
5 |
8,140,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Adam22
|
UTSW |
5 |
8,140,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Adam22
|
UTSW |
5 |
8,140,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:Adam22
|
UTSW |
5 |
8,140,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Adam22
|
UTSW |
5 |
8,417,217 (GRCm39) |
missense |
probably benign |
|
|
R5763:Adam22
|
UTSW |
5 |
8,184,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Adam22
|
UTSW |
5 |
8,177,426 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5776:Adam22
|
UTSW |
5 |
8,177,361 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5839:Adam22
|
UTSW |
5 |
8,186,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6314:Adam22
|
UTSW |
5 |
8,177,365 (GRCm39) |
nonsense |
probably null |
|
|
R6520:Adam22
|
UTSW |
5 |
8,166,635 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6798:Adam22
|
UTSW |
5 |
8,210,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6924:Adam22
|
UTSW |
5 |
8,417,322 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6938:Adam22
|
UTSW |
5 |
8,196,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7317:Adam22
|
UTSW |
5 |
8,140,202 (GRCm39) |
missense |
probably benign |
|
|
R7402:Adam22
|
UTSW |
5 |
8,145,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7431:Adam22
|
UTSW |
5 |
8,142,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Adam22
|
UTSW |
5 |
8,132,239 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7571:Adam22
|
UTSW |
5 |
8,132,160 (GRCm39) |
nonsense |
probably null |
|
|
R7627:Adam22
|
UTSW |
5 |
8,417,933 (GRCm39) |
missense |
probably benign |
|
|
R7678:Adam22
|
UTSW |
5 |
8,137,750 (GRCm39) |
splice site |
probably null |
|
|
R7714:Adam22
|
UTSW |
5 |
8,167,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7806:Adam22
|
UTSW |
5 |
8,142,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Adam22
|
UTSW |
5 |
8,180,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Adam22
|
UTSW |
5 |
8,199,284 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7979:Adam22
|
UTSW |
5 |
8,186,804 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8123:Adam22
|
UTSW |
5 |
8,142,833 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8511:Adam22
|
UTSW |
5 |
8,184,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8722:Adam22
|
UTSW |
5 |
8,166,554 (GRCm39) |
missense |
probably benign |
|
|
R8730:Adam22
|
UTSW |
5 |
8,208,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8956:Adam22
|
UTSW |
5 |
8,142,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Adam22
|
UTSW |
5 |
8,136,688 (GRCm39) |
intron |
probably benign |
|
|
R9068:Adam22
|
UTSW |
5 |
8,177,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9198:Adam22
|
UTSW |
5 |
8,167,583 (GRCm39) |
splice site |
probably null |
|
|
R9441:Adam22
|
UTSW |
5 |
8,161,974 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9480:Adam22
|
UTSW |
5 |
8,193,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0067:Adam22
|
UTSW |
5 |
8,177,329 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTTAGTGTTCACATCTCAACC -3'
(R):5'- AGAAGTCCAGAGAAGCGATATTGTC -3'
Sequencing Primer
(F):5'- CAGAAACATGGATAATCACATGGTC -3'
(R):5'- GAGAAGCGATATTGTCTCCTTTTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation