Incidental Mutation 'R9125:Adam3'
| ID |
693190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam3
|
| Ensembl Gene |
ENSMUSG00000031553 |
| Gene Name |
ADAM metallopeptidase domain 3 |
| Synonyms |
Taz83, tMDC, Taz83, Cyrn1, ADAM3 |
| MMRRC Submission |
068925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25167241-25215868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25213517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 61
(L61P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033958]
[ENSMUST00000050300]
[ENSMUST00000167703]
[ENSMUST00000169598]
[ENSMUST00000170318]
[ENSMUST00000171438]
[ENSMUST00000171611]
|
| AlphaFold |
F8VQ03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033958
AA Change: L61P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
144 |
3.8e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
185 |
361 |
6.8e-9 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
1.6e-64 |
PFAM |
|
Pfam:Reprolysin_3
|
211 |
333 |
1.2e-8 |
PFAM |
|
DISIN
|
404 |
482 |
5.58e-32 |
SMART |
|
ACR
|
483 |
614 |
4.1e-50 |
SMART |
|
EGF
|
622 |
653 |
1.66e1 |
SMART |
|
transmembrane domain
|
689 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050300
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
16 |
142 |
1.6e-19 |
PFAM |
|
Pfam:Reprolysin
|
185 |
378 |
7.7e-59 |
PFAM |
|
DISIN
|
397 |
474 |
9.1e-42 |
SMART |
|
ACR
|
475 |
618 |
6.9e-58 |
SMART |
|
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132180
|
| SMART Domains |
Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
1 |
60 |
6.7e-14 |
PFAM |
|
Pfam:Reprolysin
|
103 |
296 |
2.5e-61 |
PFAM |
|
DISIN
|
315 |
392 |
1.78e-39 |
SMART |
|
ACR
|
393 |
536 |
2.06e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167703
|
| SMART Domains |
Protein: ENSMUSP00000132634
Gene: ENSMUSG00000031553
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169598
AA Change: L61P
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130818
Gene: ENSMUSG00000031553
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
90 |
3.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170318
AA Change: L61P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132620
Gene: ENSMUSG00000031553
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
118 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171438
AA Change: L61P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
23 |
144 |
2.4e-22 |
PFAM |
|
Pfam:Reprolysin_5
|
185 |
361 |
7.8e-9 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
4.1e-64 |
PFAM |
|
Pfam:Reprolysin_3
|
211 |
321 |
1e-8 |
PFAM |
|
DISIN
|
404 |
482 |
5.58e-32 |
SMART |
|
ACR
|
483 |
614 |
4.1e-50 |
SMART |
|
EGF
|
622 |
653 |
1.66e1 |
SMART |
|
transmembrane domain
|
689 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171611
AA Change: L61P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126617
Gene: ENSMUSG00000031553
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
144 |
2.5e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
185 |
352 |
6.5e-9 |
PFAM |
|
Pfam:Reprolysin
|
187 |
352 |
2.1e-54 |
PFAM |
|
Pfam:Reprolysin_3
|
211 |
335 |
7.1e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (64/66) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are male infertile, due to the inability of the sperm to bind to the zona pellucida. If the zona pellucida is removed sperm-egg membrane fusion happens as expected. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
G |
A |
17: 84,976,425 (GRCm39) |
H471Y |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,733,744 (GRCm39) |
D622V |
probably damaging |
Het |
| Antxr2 |
G |
A |
5: 98,151,973 (GRCm39) |
S166F |
probably damaging |
Het |
| Asph |
C |
T |
4: 9,474,928 (GRCm39) |
G682D |
possibly damaging |
Het |
| Asz1 |
T |
C |
6: 18,054,561 (GRCm39) |
E414G |
probably benign |
Het |
| Cabp2 |
G |
A |
19: 4,135,597 (GRCm39) |
D96N |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,860,563 (GRCm39) |
D546E |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,917,762 (GRCm39) |
R545S |
probably benign |
Het |
| Chrna7 |
G |
A |
7: 62,757,357 (GRCm39) |
Q181* |
probably null |
Het |
| Cib1 |
T |
C |
7: 79,877,751 (GRCm39) |
D182G |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,655,477 (GRCm39) |
H76R |
probably benign |
Het |
| Cop1 |
T |
G |
1: 159,067,187 (GRCm39) |
F157V |
probably damaging |
Het |
| Cspg4b |
C |
T |
13: 113,505,374 (GRCm39) |
P2168S |
|
Het |
| Dap3 |
T |
A |
3: 88,837,861 (GRCm39) |
T130S |
probably benign |
Het |
| Ddb2 |
T |
A |
2: 91,064,593 (GRCm39) |
K106* |
probably null |
Het |
| Derl3 |
G |
A |
10: 75,730,443 (GRCm39) |
V169I |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,102,074 (GRCm39) |
C353* |
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,736,360 (GRCm39) |
D2110V |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,525 (GRCm39) |
N217S |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,482,693 (GRCm39) |
T184A |
probably damaging |
Het |
| Gfpt1 |
G |
A |
6: 87,053,248 (GRCm39) |
V403I |
probably benign |
Het |
| Gm7276 |
A |
G |
18: 77,273,147 (GRCm39) |
S196P |
unknown |
Het |
| Grik1 |
T |
A |
16: 87,852,956 (GRCm39) |
T76S |
|
Het |
| Hrnr |
A |
G |
3: 93,238,863 (GRCm39) |
N3034D |
unknown |
Het |
| Kmt2c |
T |
C |
5: 25,489,194 (GRCm39) |
T4582A |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,875,412 (GRCm39) |
I496V |
probably benign |
Het |
| Muc3a |
A |
G |
5: 137,245,210 (GRCm39) |
L115P |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,157,871 (GRCm39) |
L40P |
probably damaging |
Het |
| Nipsnap3b |
A |
T |
4: 53,021,177 (GRCm39) |
D216V |
probably damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,294 (GRCm39) |
V225M |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,506,108 (GRCm39) |
I197K |
probably damaging |
Het |
| Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,178,589 (GRCm39) |
I1776T |
probably benign |
Het |
| Pira12 |
T |
A |
7: 3,900,021 (GRCm39) |
I194L |
possibly damaging |
Het |
| Ppp1r37 |
T |
C |
7: 19,269,014 (GRCm39) |
D162G |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,386,739 (GRCm39) |
E116V |
probably damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,073 (GRCm39) |
V270A |
probably benign |
Het |
| Prorp |
A |
T |
12: 55,355,611 (GRCm39) |
D372V |
possibly damaging |
Het |
| Psme2 |
T |
A |
14: 55,828,302 (GRCm39) |
K15N |
possibly damaging |
Het |
| Retreg1 |
C |
T |
15: 25,968,618 (GRCm39) |
R125C |
probably damaging |
Het |
| Rgs16 |
A |
G |
1: 153,617,874 (GRCm39) |
E128G |
probably null |
Het |
| Rnf145 |
G |
T |
11: 44,450,819 (GRCm39) |
R381L |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,347,433 (GRCm39) |
K289E |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,669,292 (GRCm39) |
V3504A |
probably benign |
Het |
| Selp |
T |
A |
1: 163,951,356 (GRCm39) |
I30N |
probably benign |
Het |
| Serpinb5 |
C |
T |
1: 106,798,137 (GRCm39) |
A42V |
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,915,633 (GRCm39) |
G142S |
unknown |
Het |
| Sh2d1b2 |
T |
C |
1: 170,075,751 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,086,656 (GRCm39) |
E645K |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,878,598 (GRCm39) |
T372S |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,693,583 (GRCm39) |
D1262E |
possibly damaging |
Het |
| Speer4a3 |
T |
C |
5: 26,156,596 (GRCm39) |
M128V |
possibly damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,784,241 (GRCm39) |
Q661L |
probably benign |
Het |
| Tarbp1 |
G |
T |
8: 127,174,202 (GRCm39) |
T868K |
possibly damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,023,531 (GRCm39) |
S101P |
probably damaging |
Het |
| Tnfsf10 |
A |
C |
3: 27,380,028 (GRCm39) |
|
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,823,802 (GRCm39) |
R1001K |
probably null |
Het |
| Unc80 |
T |
A |
1: 66,718,740 (GRCm39) |
S2988T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,335 (GRCm39) |
I268M |
possibly damaging |
Het |
| Vmn1r27 |
G |
A |
6: 58,192,416 (GRCm39) |
T196I |
probably benign |
Het |
| Vmn2r80 |
T |
A |
10: 78,984,760 (GRCm39) |
D37E |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,996,047 (GRCm39) |
H200Q |
|
Het |
| Washc5 |
T |
C |
15: 59,209,134 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,526,106 (GRCm39) |
F210L |
probably damaging |
Het |
| Wscd2 |
C |
A |
5: 113,715,417 (GRCm39) |
A419E |
probably benign |
Het |
|
| Other mutations in Adam3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Adam3
|
APN |
8 |
25,184,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01792:Adam3
|
APN |
8 |
25,187,219 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01894:Adam3
|
APN |
8 |
25,177,954 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01941:Adam3
|
APN |
8 |
25,171,462 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02355:Adam3
|
APN |
8 |
25,187,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Adam3
|
APN |
8 |
25,187,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Adam3
|
APN |
8 |
25,185,192 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03070:Adam3
|
APN |
8 |
25,193,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03106:Adam3
|
APN |
8 |
25,205,135 (GRCm39) |
splice site |
probably benign |
|
|
IGL03238:Adam3
|
APN |
8 |
25,177,981 (GRCm39) |
splice site |
probably null |
|
|
I2288:Adam3
|
UTSW |
8 |
25,174,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Adam3
|
UTSW |
8 |
25,185,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1103:Adam3
|
UTSW |
8 |
25,204,287 (GRCm39) |
splice site |
probably benign |
|
|
R1104:Adam3
|
UTSW |
8 |
25,171,545 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1430:Adam3
|
UTSW |
8 |
25,204,287 (GRCm39) |
splice site |
probably benign |
|
|
R1599:Adam3
|
UTSW |
8 |
25,215,377 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1663:Adam3
|
UTSW |
8 |
25,177,949 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2023:Adam3
|
UTSW |
8 |
25,179,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2278:Adam3
|
UTSW |
8 |
25,201,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3033:Adam3
|
UTSW |
8 |
25,184,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3440:Adam3
|
UTSW |
8 |
25,170,759 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3441:Adam3
|
UTSW |
8 |
25,170,759 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3688:Adam3
|
UTSW |
8 |
25,193,864 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4478:Adam3
|
UTSW |
8 |
25,185,171 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4654:Adam3
|
UTSW |
8 |
25,193,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Adam3
|
UTSW |
8 |
25,201,740 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4910:Adam3
|
UTSW |
8 |
25,184,321 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4921:Adam3
|
UTSW |
8 |
25,174,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4941:Adam3
|
UTSW |
8 |
25,167,332 (GRCm39) |
unclassified |
probably benign |
|
|
R5239:Adam3
|
UTSW |
8 |
25,184,207 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5771:Adam3
|
UTSW |
8 |
25,197,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5897:Adam3
|
UTSW |
8 |
25,187,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5916:Adam3
|
UTSW |
8 |
25,174,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5979:Adam3
|
UTSW |
8 |
25,167,383 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6168:Adam3
|
UTSW |
8 |
25,171,630 (GRCm39) |
splice site |
probably null |
|
|
R6189:Adam3
|
UTSW |
8 |
25,201,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6801:Adam3
|
UTSW |
8 |
25,174,680 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6997:Adam3
|
UTSW |
8 |
25,171,539 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7065:Adam3
|
UTSW |
8 |
25,201,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7074:Adam3
|
UTSW |
8 |
25,184,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7151:Adam3
|
UTSW |
8 |
25,185,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Adam3
|
UTSW |
8 |
25,201,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7341:Adam3
|
UTSW |
8 |
25,177,996 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7528:Adam3
|
UTSW |
8 |
25,167,279 (GRCm39) |
missense |
unknown |
|
|
R7797:Adam3
|
UTSW |
8 |
25,184,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7891:Adam3
|
UTSW |
8 |
25,197,513 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8064:Adam3
|
UTSW |
8 |
25,171,566 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8157:Adam3
|
UTSW |
8 |
25,197,453 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8229:Adam3
|
UTSW |
8 |
25,201,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9007:Adam3
|
UTSW |
8 |
25,205,127 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9018:Adam3
|
UTSW |
8 |
25,184,292 (GRCm39) |
nonsense |
probably null |
|
|
R9098:Adam3
|
UTSW |
8 |
25,179,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Adam3
|
UTSW |
8 |
25,193,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9211:Adam3
|
UTSW |
8 |
25,177,910 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9267:Adam3
|
UTSW |
8 |
25,171,605 (GRCm39) |
missense |
probably benign |
|
|
R9331:Adam3
|
UTSW |
8 |
25,177,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9432:Adam3
|
UTSW |
8 |
25,193,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Adam3
|
UTSW |
8 |
25,204,274 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0063:Adam3
|
UTSW |
8 |
25,201,722 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Adam3
|
UTSW |
8 |
25,171,447 (GRCm39) |
utr 3 prime |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACACTGTGAAGGCAGAG -3'
(R):5'- GACATAGTAGAGACTGTTGTGAGGTC -3'
Sequencing Primer
(F):5'- GAGCTGCTTTAAGGCTTTTGATAATC -3'
(R):5'- CATTTGTGTTTGAGAATATGTAGGC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation