Incidental Mutation 'R5199:Adam1a'
| ID |
400571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam1a
|
| Ensembl Gene |
ENSMUSG00000072647 |
| Gene Name |
a disintegrin and metallopeptidase domain 1a |
| Synonyms |
fertilin alpha, Ftna, PH-30 alpha |
| MMRRC Submission |
042775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5199 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121656667-121659758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121659215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 26
(E26G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031410]
[ENSMUST00000100757]
[ENSMUST00000111782]
[ENSMUST00000111783]
[ENSMUST00000111786]
[ENSMUST00000111795]
[ENSMUST00000200170]
[ENSMUST00000125946]
[ENSMUST00000156080]
|
| AlphaFold |
Q60813 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031410
|
| SMART Domains |
Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
409 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100757
AA Change: E26G
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: E26G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
70 |
191 |
1.5e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
233 |
410 |
2.8e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
234 |
421 |
6.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
235 |
429 |
1.3e-70 |
PFAM |
|
Pfam:Reprolysin_3
|
255 |
381 |
3.8e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
255 |
419 |
5.6e-9 |
PFAM |
|
DISIN
|
447 |
520 |
6.45e-37 |
SMART |
|
ACR
|
521 |
660 |
4.59e-62 |
SMART |
|
EGF
|
666 |
697 |
1.99e1 |
SMART |
|
transmembrane domain
|
741 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
791 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111781
|
| SMART Domains |
Protein: ENSMUSP00000107411
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
200 |
1.9e-15 |
PFAM |
|
Pfam:Pkinase
|
1 |
203 |
1.2e-48 |
PFAM |
|
coiled coil region
|
308 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111782
|
| SMART Domains |
Protein: ENSMUSP00000107412
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
6 |
155 |
3.7e-27 |
PFAM |
|
coiled coil region
|
258 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111783
|
| SMART Domains |
Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111786
|
| SMART Domains |
Protein: ENSMUSP00000107416
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
6 |
155 |
3.8e-27 |
PFAM |
|
coiled coil region
|
260 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111795
|
| SMART Domains |
Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153763
|
| SMART Domains |
Protein: ENSMUSP00000119182
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126524
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200170
|
| SMART Domains |
Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152270
|
| SMART Domains |
Protein: ENSMUSP00000116464
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
49 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125946
|
| SMART Domains |
Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
5.3e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156080
|
| SMART Domains |
Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
|
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display male infertility with asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
C |
3: 59,843,906 (GRCm39) |
L200P |
probably damaging |
Het |
| Adar |
T |
A |
3: 89,653,251 (GRCm39) |
M797K |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,361,847 (GRCm39) |
C352S |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,473,356 (GRCm39) |
R387S |
probably damaging |
Het |
| Cabp1 |
A |
G |
5: 115,324,102 (GRCm39) |
V5A |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,295,853 (GRCm39) |
L387P |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,140,403 (GRCm39) |
H200Q |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,710,581 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,483,425 (GRCm39) |
D956G |
possibly damaging |
Het |
| Cnot8 |
C |
T |
11: 58,006,100 (GRCm39) |
Q210* |
probably null |
Het |
| Cpne8 |
G |
A |
15: 90,532,812 (GRCm39) |
T65I |
probably benign |
Het |
| Crygn |
A |
G |
5: 24,961,156 (GRCm39) |
V50A |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,283 (GRCm39) |
V126A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,921,346 (GRCm39) |
D464G |
probably benign |
Het |
| Dapp1 |
C |
T |
3: 137,687,146 (GRCm39) |
S12N |
probably benign |
Het |
| Dhps |
G |
A |
8: 85,800,035 (GRCm39) |
G162R |
probably damaging |
Het |
| Dsp |
T |
G |
13: 38,376,878 (GRCm39) |
Y1554* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,748,853 (GRCm39) |
R397L |
probably damaging |
Het |
| Ezh2 |
C |
T |
6: 47,528,659 (GRCm39) |
C291Y |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,678 (GRCm39) |
S303G |
probably benign |
Het |
| Gm11444 |
A |
C |
11: 85,738,845 (GRCm39) |
S83A |
unknown |
Het |
| Gpat4 |
A |
G |
8: 23,672,712 (GRCm39) |
V46A |
possibly damaging |
Het |
| Haus6 |
T |
C |
4: 86,501,222 (GRCm39) |
D883G |
possibly damaging |
Het |
| Hinfp |
T |
C |
9: 44,207,689 (GRCm39) |
E439G |
probably benign |
Het |
| Ifna14 |
T |
A |
4: 88,489,599 (GRCm39) |
Y146F |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,488 (GRCm39) |
Y110F |
probably damaging |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,942 (GRCm39) |
|
noncoding transcript |
Het |
| Klrh1 |
T |
A |
6: 129,752,781 (GRCm39) |
Y8F |
possibly damaging |
Het |
| Mcmdc2 |
T |
C |
1: 9,990,660 (GRCm39) |
V279A |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,017,619 (GRCm39) |
V452D |
probably benign |
Het |
| Ndufb3 |
C |
G |
1: 58,630,281 (GRCm39) |
|
probably benign |
Het |
| Oas1d |
G |
T |
5: 121,057,208 (GRCm39) |
K271N |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,107 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,124,103 (GRCm39) |
F196I |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,590,558 (GRCm39) |
L54P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,254,378 (GRCm39) |
H817L |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,352 (GRCm39) |
S724R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,101,124 (GRCm39) |
V464E |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,803,272 (GRCm39) |
E38G |
probably benign |
Het |
| Qtrt2 |
T |
C |
16: 43,687,788 (GRCm39) |
N264S |
probably benign |
Het |
| Ranbp2 |
G |
A |
10: 58,300,265 (GRCm39) |
R557H |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,494,642 (GRCm39) |
S3T |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,406,019 (GRCm39) |
Y60F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,985,564 (GRCm39) |
V30A |
probably benign |
Het |
| Tmem245 |
G |
A |
4: 56,925,149 (GRCm39) |
S324L |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,223,871 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,589,636 (GRCm39) |
T382A |
possibly damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,814 (GRCm39) |
L214F |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,921 (GRCm39) |
C640Y |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,639,984 (GRCm39) |
D281G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,013 (GRCm39) |
C1017S |
probably benign |
Het |
|
| Other mutations in Adam1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01451:Adam1a
|
APN |
5 |
121,657,439 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01467:Adam1a
|
APN |
5 |
121,657,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Adam1a
|
APN |
5 |
121,657,034 (GRCm39) |
nonsense |
probably null |
|
|
R1468:Adam1a
|
UTSW |
5 |
121,657,839 (GRCm39) |
splice site |
probably null |
|
|
R1468:Adam1a
|
UTSW |
5 |
121,657,839 (GRCm39) |
splice site |
probably null |
|
|
R1593:Adam1a
|
UTSW |
5 |
121,657,706 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1848:Adam1a
|
UTSW |
5 |
121,657,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Adam1a
|
UTSW |
5 |
121,657,513 (GRCm39) |
nonsense |
probably null |
|
|
R2176:Adam1a
|
UTSW |
5 |
121,657,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2232:Adam1a
|
UTSW |
5 |
121,657,795 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3692:Adam1a
|
UTSW |
5 |
121,657,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Adam1a
|
UTSW |
5 |
121,657,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4733:Adam1a
|
UTSW |
5 |
121,657,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4835:Adam1a
|
UTSW |
5 |
121,657,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Adam1a
|
UTSW |
5 |
121,657,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Adam1a
|
UTSW |
5 |
121,657,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Adam1a
|
UTSW |
5 |
121,659,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7124:Adam1a
|
UTSW |
5 |
121,657,397 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7294:Adam1a
|
UTSW |
5 |
121,658,068 (GRCm39) |
nonsense |
probably null |
|
|
R7501:Adam1a
|
UTSW |
5 |
121,657,011 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7641:Adam1a
|
UTSW |
5 |
121,657,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8548:Adam1a
|
UTSW |
5 |
121,658,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Adam1a
|
UTSW |
5 |
121,657,145 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9151:Adam1a
|
UTSW |
5 |
121,657,411 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9400:Adam1a
|
UTSW |
5 |
121,657,893 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCAATAGCATGTAGGACACC -3'
(R):5'- CACAGTTTCTTGGGAAGCTCC -3'
Sequencing Primer
(F):5'- CTTGCCTGGCAGTCTCTCAGG -3'
(R):5'- GAAGCTCCCCAGTAAGGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation