Incidental Mutation 'R5979:Adam3'
| ID |
481315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam3
|
| Ensembl Gene |
ENSMUSG00000031553 |
| Gene Name |
ADAM metallopeptidase domain 3 |
| Synonyms |
Taz83, tMDC, Taz83, Cyrn1, ADAM3 |
| MMRRC Submission |
044161-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25167241-25215868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25167383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 36
(N36S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000033958]
[ENSMUST00000167431]
[ENSMUST00000170318]
[ENSMUST00000171438]
[ENSMUST00000173833]
|
| AlphaFold |
F8VQ03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
15 |
140 |
1.7e-25 |
PFAM |
|
Pfam:Reprolysin
|
180 |
377 |
1.1e-57 |
PFAM |
|
DISIN
|
396 |
474 |
1.03e-35 |
SMART |
|
ACR
|
475 |
613 |
1.12e-51 |
SMART |
|
transmembrane domain
|
684 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033958
|
| SMART Domains |
Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
| 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 |
noncoding transcript
Transcript: ENSMUST00000158677
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167431
AA Change: N36S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127479
Gene: ENSMUSG00000031553
AA Change: N36S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170318
|
| SMART Domains |
Protein: ENSMUSP00000132620
Gene: ENSMUSG00000031553
| 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 benign
Transcript: ENSMUST00000171438
|
| SMART Domains |
Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
| 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 benign
Transcript: ENSMUST00000173833
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
15 |
140 |
9.5e-35 |
PFAM |
|
Pfam:Reprolysin
|
180 |
378 |
7.7e-56 |
PFAM |
|
DISIN
|
396 |
474 |
1.03e-35 |
SMART |
|
ACR
|
475 |
613 |
1.12e-51 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (87/87) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,364,029 (GRCm39) |
I103V |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 90,009,528 (GRCm39) |
V45A |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,681,860 (GRCm39) |
L69* |
probably null |
Het |
| Alkbh5 |
T |
A |
11: 60,429,517 (GRCm39) |
I90N |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,858,120 (GRCm39) |
Y193C |
probably damaging |
Het |
| Ankrd11 |
T |
G |
8: 123,619,139 (GRCm39) |
D1571A |
probably damaging |
Het |
| Brd4 |
T |
C |
17: 32,417,700 (GRCm39) |
D124G |
probably benign |
Het |
| C2cd2 |
G |
A |
16: 97,676,418 (GRCm39) |
T443I |
probably benign |
Het |
| Casp8 |
A |
T |
1: 58,868,071 (GRCm39) |
M171L |
probably benign |
Het |
| Cd200r4 |
G |
A |
16: 44,653,295 (GRCm39) |
V22I |
probably benign |
Het |
| Cdcp2 |
A |
G |
4: 106,962,478 (GRCm39) |
Y217C |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,046,409 (GRCm39) |
V556F |
possibly damaging |
Het |
| Chka |
T |
G |
19: 3,934,513 (GRCm39) |
I182M |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,755,193 (GRCm39) |
|
probably null |
Het |
| Coq10b |
T |
C |
1: 55,092,077 (GRCm39) |
V15A |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,270,710 (GRCm39) |
S309T |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,766,232 (GRCm39) |
H992L |
possibly damaging |
Het |
| Dctn3 |
T |
C |
4: 41,715,393 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
G |
T |
2: 158,684,789 (GRCm39) |
R536L |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 31,034,638 (GRCm39) |
E4186* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,725,307 (GRCm39) |
L4282P |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,312,012 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,199,453 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,101,887 (GRCm39) |
V214L |
probably benign |
Het |
| Fam131b |
T |
C |
6: 42,298,905 (GRCm39) |
D25G |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,787,089 (GRCm39) |
I283F |
probably damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,254,931 (GRCm39) |
N205K |
possibly damaging |
Het |
| Got1l1 |
C |
T |
8: 27,687,951 (GRCm39) |
|
probably null |
Het |
| Gprin1 |
G |
A |
13: 54,887,791 (GRCm39) |
A161V |
probably benign |
Het |
| Hepacam2 |
A |
T |
6: 3,476,149 (GRCm39) |
F183I |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,156,279 (GRCm39) |
T82A |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,243,894 (GRCm39) |
E147K |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,519,740 (GRCm39) |
A1700T |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,899,841 (GRCm39) |
V514A |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 27,111,728 (GRCm39) |
D764G |
probably damaging |
Het |
| Lgi3 |
G |
A |
14: 70,773,900 (GRCm39) |
R358H |
probably damaging |
Het |
| Limd1 |
G |
T |
9: 123,308,479 (GRCm39) |
Q59H |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,657,148 (GRCm39) |
Y1814C |
possibly damaging |
Het |
| Lysmd3 |
G |
A |
13: 81,813,393 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
T |
C |
4: 106,578,123 (GRCm39) |
N185S |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,143 (GRCm39) |
G149D |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,283,493 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
T |
C |
11: 59,439,797 (GRCm39) |
F458S |
probably benign |
Het |
| Nop58 |
A |
T |
1: 59,741,990 (GRCm39) |
D173V |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,631 (GRCm39) |
R175H |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,307,862 (GRCm39) |
N322S |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,239,467 (GRCm39) |
S240P |
probably damaging |
Het |
| Or10a5 |
G |
A |
7: 106,635,543 (GRCm39) |
M60I |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,616,083 (GRCm39) |
K90E |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,666 (GRCm39) |
H242R |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,393,595 (GRCm39) |
T177I |
possibly damaging |
Het |
| Parn |
A |
C |
16: 13,424,035 (GRCm39) |
L454R |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,044 (GRCm39) |
L730Q |
possibly damaging |
Het |
| Phf3 |
G |
T |
1: 30,844,827 (GRCm39) |
F1377L |
probably damaging |
Het |
| Pign |
G |
T |
1: 105,516,999 (GRCm39) |
S542R |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,202,596 (GRCm39) |
V502F |
probably damaging |
Het |
| Psmd1 |
A |
T |
1: 86,017,775 (GRCm39) |
I529F |
possibly damaging |
Het |
| Ptafr |
A |
G |
4: 132,306,616 (GRCm39) |
E2G |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,138,960 (GRCm39) |
N380S |
probably benign |
Het |
| Rbm12 |
A |
C |
2: 155,939,679 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,433,244 (GRCm39) |
Y174H |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,632 (GRCm39) |
S457P |
probably damaging |
Het |
| Sall4 |
A |
T |
2: 168,592,263 (GRCm39) |
S964T |
probably benign |
Het |
| Sart1 |
T |
A |
19: 5,431,251 (GRCm39) |
I681F |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,797,644 (GRCm39) |
L49P |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,036 (GRCm39) |
V154A |
probably benign |
Het |
| Skic2 |
A |
T |
17: 35,060,439 (GRCm39) |
N851K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,358,334 (GRCm39) |
V136I |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,440,627 (GRCm39) |
T1747I |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,283,339 (GRCm39) |
D339E |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,911,060 (GRCm39) |
L195P |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,843 (GRCm39) |
G414W |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,454,024 (GRCm39) |
T79I |
probably damaging |
Het |
| Tmem39a |
A |
T |
16: 38,396,106 (GRCm39) |
N113I |
probably damaging |
Het |
| Trim14 |
C |
T |
4: 46,507,239 (GRCm39) |
V326M |
probably damaging |
Het |
| Trim58 |
A |
G |
11: 58,536,909 (GRCm39) |
E234G |
probably damaging |
Het |
| Ttr |
T |
C |
18: 20,803,059 (GRCm39) |
L75P |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,776,863 (GRCm39) |
V293I |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,990 (GRCm39) |
V303E |
probably benign |
Het |
| Vmn2r30 |
A |
C |
7: 7,315,334 (GRCm39) |
I833S |
probably damaging |
Het |
| Zfp131 |
G |
T |
13: 120,237,982 (GRCm39) |
N125K |
probably benign |
Het |
| Zfp169 |
A |
T |
13: 48,644,516 (GRCm39) |
|
probably benign |
Het |
| Zfp213 |
C |
A |
17: 23,776,885 (GRCm39) |
E386* |
probably null |
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 |
|
|
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 |
|
R9125:Adam3
|
UTSW |
8 |
25,213,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACAGAGCTGGGATGTGATTG -3'
(R):5'- AATCATAGGCACAGAAGGCC -3'
Sequencing Primer
(F):5'- AGCTTAGAATGCTGATCTCCCTGG -3'
(R):5'- GAGAATGTAGCCTTTCTACTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation