Incidental Mutation 'R8548:Adam1a'
| ID |
659737 |
| 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 |
068513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8548 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121656667-121659758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121658165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 376
(L376Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031410]
[ENSMUST00000100757]
[ENSMUST00000111783]
[ENSMUST00000111795]
[ENSMUST00000125946]
[ENSMUST00000156080]
[ENSMUST00000200170]
|
| 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 damaging
Transcript: ENSMUST00000100757
AA Change: L376Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: L376Q
| 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 |
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: ENSMUST00000111795
|
| SMART Domains |
Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
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: 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin1 |
A |
G |
4: 123,631,831 (GRCm39) |
M179T |
possibly damaging |
Het |
| Ap5b1 |
G |
T |
19: 5,621,123 (GRCm39) |
V848L |
possibly damaging |
Het |
| Apoa2 |
T |
A |
1: 171,053,798 (GRCm39) |
M91K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cdc20 |
A |
C |
4: 118,293,535 (GRCm39) |
S160A |
possibly damaging |
Het |
| Cftr |
G |
T |
6: 18,273,698 (GRCm39) |
V839L |
possibly damaging |
Het |
| Ctf1 |
A |
T |
7: 127,316,564 (GRCm39) |
H171L |
probably benign |
Het |
| Dmac2 |
T |
A |
7: 25,324,217 (GRCm39) |
M225K |
probably damaging |
Het |
| Dmbx1 |
A |
T |
4: 115,777,512 (GRCm39) |
V112E |
probably damaging |
Het |
| Eloa |
T |
C |
4: 135,732,988 (GRCm39) |
K754R |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,777,062 (GRCm39) |
T286I |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,659 (GRCm39) |
D845G |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,421,542 (GRCm39) |
M232L |
possibly damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,400 (GRCm39) |
I125K |
probably damaging |
Het |
| Hoxa2 |
G |
A |
6: 52,140,098 (GRCm39) |
T296I |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,713,767 (GRCm39) |
M87V |
probably benign |
Het |
| Ilkap |
G |
T |
1: 91,318,882 (GRCm39) |
D31E |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Macc1 |
T |
A |
12: 119,414,091 (GRCm39) |
S756T |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,499 (GRCm39) |
D545G |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,854,572 (GRCm39) |
N1390D |
probably benign |
Het |
| Mgat5 |
G |
A |
1: 127,248,409 (GRCm39) |
V104M |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,827,916 (GRCm39) |
M1L |
possibly damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,052 (GRCm39) |
K64E |
possibly damaging |
Het |
| Nr6a1 |
C |
A |
2: 38,619,550 (GRCm39) |
Q448H |
probably damaging |
Het |
| Nr6a1 |
T |
G |
2: 38,619,551 (GRCm39) |
Q448P |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,783,526 (GRCm39) |
|
probably null |
Het |
| Or8g37 |
T |
A |
9: 39,731,537 (GRCm39) |
C201S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,566 (GRCm39) |
N476S |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,732,268 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
T |
6: 115,934,558 (GRCm39) |
D1792N |
probably damaging |
Het |
| Prdm11 |
C |
T |
2: 92,843,103 (GRCm39) |
V119M |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,416 (GRCm39) |
F218L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,913,047 (GRCm39) |
Y114H |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,946,581 (GRCm39) |
I101N |
unknown |
Het |
| Sp8 |
A |
C |
12: 118,812,910 (GRCm39) |
Y255S |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,621,463 (GRCm39) |
V175I |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,693,050 (GRCm39) |
D359N |
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,217,733 (GRCm39) |
I496V |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,908,653 (GRCm39) |
P1018S |
possibly damaging |
Het |
| Usp7 |
A |
T |
16: 8,529,939 (GRCm39) |
V142E |
possibly damaging |
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 |
|
R5199:Adam1a
|
UTSW |
5 |
121,659,215 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
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'- TCCCACAATTGGCAGCTCTG -3'
(R):5'- ACTCAGGAATTTCAACTTCTGGAG -3'
Sequencing Primer
(F):5'- TGTGGTCATGGAGGAAAC -3'
(R):5'- CAGGAGAAACTCGTGGGCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation