Incidental Mutation 'R5916:Adam3'
| ID |
461332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam3
|
| Ensembl Gene |
ENSMUSG00000031553 |
| Gene Name |
ADAM metallopeptidase domain 3 |
| Synonyms |
Taz83, tMDC, Taz83, Cyrn1, ADAM3 |
| MMRRC Submission |
044113-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5916 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25167241-25215868 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 25174555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033958]
[ENSMUST00000167431]
[ENSMUST00000170318]
[ENSMUST00000171438]
[ENSMUST00000171438]
|
| AlphaFold |
F8VQ03 |
| Predicted Effect |
probably null
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
|
| SMART Domains |
Protein: ENSMUSP00000127479
Gene: ENSMUSG00000031553
| 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 null
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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,349,550 (GRCm39) |
N269I |
possibly damaging |
Het |
| Abcc1 |
G |
T |
16: 14,283,006 (GRCm39) |
V1161F |
possibly damaging |
Het |
| Agt |
A |
T |
8: 125,290,597 (GRCm39) |
S237T |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,512,181 (GRCm39) |
F674L |
probably benign |
Het |
| Asb2 |
G |
T |
12: 103,290,135 (GRCm39) |
A504E |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,748 (GRCm39) |
I1113N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,112,978 (GRCm39) |
|
probably null |
Het |
| Bambi |
A |
G |
18: 3,511,463 (GRCm39) |
T95A |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,619,806 (GRCm39) |
M1K |
probably null |
Het |
| Clrn1 |
T |
C |
3: 58,753,783 (GRCm39) |
T193A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,379,873 (GRCm39) |
D437E |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,408,373 (GRCm39) |
A1820S |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,073 (GRCm39) |
I233N |
possibly damaging |
Het |
| Dsc3 |
T |
C |
18: 20,120,077 (GRCm39) |
N194D |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,102,309 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,401,460 (GRCm39) |
R36S |
probably damaging |
Het |
| Fam243 |
T |
A |
16: 92,117,559 (GRCm39) |
E243V |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,219,709 (GRCm39) |
C680S |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,275,778 (GRCm39) |
L1129P |
unknown |
Het |
| Fzd3 |
G |
A |
14: 65,440,178 (GRCm39) |
T664I |
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,766,032 (GRCm39) |
I129V |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,449,352 (GRCm39) |
F1950S |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,623,188 (GRCm39) |
G597E |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,286,151 (GRCm39) |
V2101D |
probably damaging |
Het |
| Il17re |
T |
A |
6: 113,447,084 (GRCm39) |
C612S |
probably damaging |
Het |
| Il36g |
T |
G |
2: 24,082,806 (GRCm39) |
*194E |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,505 (GRCm39) |
Y185C |
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,057,243 (GRCm39) |
Q186* |
probably null |
Het |
| Lrrn2 |
T |
A |
1: 132,865,538 (GRCm39) |
V201E |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,323,027 (GRCm39) |
T68S |
probably benign |
Het |
| Marchf1 |
G |
T |
8: 66,839,763 (GRCm39) |
R182L |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,333,882 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,794,793 (GRCm39) |
S2708T |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,252,933 (GRCm39) |
T396A |
probably benign |
Het |
| Naip5 |
A |
C |
13: 100,359,209 (GRCm39) |
S676A |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,963,337 (GRCm39) |
W456C |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 58,956,543 (GRCm39) |
M1V |
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,372,340 (GRCm39) |
*485Q |
probably null |
Het |
| Ocln |
T |
G |
13: 100,642,687 (GRCm39) |
D216A |
possibly damaging |
Het |
| Or10x1 |
A |
T |
1: 174,196,698 (GRCm39) |
T72S |
probably damaging |
Het |
| Or1o11 |
C |
T |
17: 37,756,570 (GRCm39) |
L53F |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,791,175 (GRCm39) |
M81T |
probably damaging |
Het |
| Or55b4 |
G |
A |
7: 102,133,586 (GRCm39) |
S247F |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,359,374 (GRCm39) |
M2243K |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,727,779 (GRCm39) |
Y182C |
probably benign |
Het |
| Rpgrip1l |
C |
A |
8: 91,979,541 (GRCm39) |
R967L |
possibly damaging |
Het |
| Scube2 |
A |
G |
7: 109,430,931 (GRCm39) |
Y423H |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,312 (GRCm39) |
Y809N |
probably damaging |
Het |
| Slc35f1 |
C |
A |
10: 52,809,317 (GRCm39) |
Y101* |
probably null |
Het |
| Tbc1d22a |
A |
G |
15: 86,098,809 (GRCm39) |
K12E |
possibly damaging |
Het |
| Tent2 |
T |
C |
13: 93,312,055 (GRCm39) |
D215G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,285,429 (GRCm39) |
V646M |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,587 (GRCm39) |
M243K |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,741,513 (GRCm39) |
L732P |
probably damaging |
Het |
| U2af2 |
A |
T |
7: 5,082,179 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,540,795 (GRCm39) |
N1877Y |
probably damaging |
Het |
| Vsir |
C |
T |
10: 60,193,816 (GRCm39) |
T93I |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,142,112 (GRCm39) |
M3K |
possibly damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
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 |
|
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 |
|
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'- TCCAATTGTCCTTGGCACATCAG -3'
(R):5'- TGATTTTCAAGCGGCATGGC -3'
Sequencing Primer
(F):5'- AAGGACGCTGTAGCTGGTC -3'
(R):5'- GGCTGTTAAGCGGATGAT -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation