Incidental Mutation 'R9476:Adam18'
| ID |
715786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9476 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25115807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 629
(N629S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000138232]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: N629S
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: N629S
| 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: ENSMUST00000138232
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173833
AA Change: N629S
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: N629S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during early stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with that of controls. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
G |
4: 42,760,998 (GRCm39) |
W6G |
unknown |
Het |
| Aatk |
A |
T |
11: 119,901,094 (GRCm39) |
C1101S |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,977,790 (GRCm39) |
D456V |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,819,270 (GRCm39) |
E186G |
possibly damaging |
Het |
| Angpt2 |
T |
G |
8: 18,764,143 (GRCm39) |
N133T |
probably benign |
Het |
| Ankrd13c |
T |
A |
3: 157,697,396 (GRCm39) |
S334T |
probably benign |
Het |
| Ankrd13d |
A |
T |
19: 4,320,289 (GRCm39) |
S151T |
unknown |
Het |
| Ap3d1 |
G |
A |
10: 80,545,655 (GRCm39) |
P1025S |
probably benign |
Het |
| Bhlhe41 |
G |
A |
6: 145,808,948 (GRCm39) |
A288V |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,540,058 (GRCm39) |
E1467G |
probably damaging |
Het |
| Cacna1h |
T |
A |
17: 25,611,524 (GRCm39) |
T425S |
probably damaging |
Het |
| Cdk13 |
A |
C |
13: 17,902,747 (GRCm39) |
C934W |
probably damaging |
Het |
| Ces1b |
T |
A |
8: 93,799,890 (GRCm39) |
N162I |
probably damaging |
Het |
| Clec9a |
T |
A |
6: 129,398,023 (GRCm39) |
I187K |
possibly damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,350,080 (GRCm39) |
I266M |
probably damaging |
Het |
| Cr2 |
G |
T |
1: 194,840,416 (GRCm39) |
L509M |
probably damaging |
Het |
| Creb3l2 |
C |
A |
6: 37,311,446 (GRCm39) |
G448W |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,981,215 (GRCm39) |
|
probably null |
Het |
| Cul9 |
G |
A |
17: 46,821,833 (GRCm39) |
R1881W |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,076,206 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,352,889 (GRCm39) |
N2681Y |
possibly damaging |
Het |
| Dnm1 |
T |
C |
2: 32,213,739 (GRCm39) |
M476V |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,957,707 (GRCm39) |
H896R |
probably damaging |
Het |
| Dock1 |
T |
G |
7: 134,592,279 (GRCm39) |
I938S |
probably benign |
Het |
| Dock6 |
G |
A |
9: 21,724,821 (GRCm39) |
L1515F |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,226 (GRCm39) |
H535R |
probably benign |
Het |
| Fancd2os |
T |
A |
6: 113,574,994 (GRCm39) |
Y4F |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,886 (GRCm39) |
Q3846L |
probably benign |
Het |
| Fbxw10 |
A |
C |
11: 62,743,814 (GRCm39) |
H240P |
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,324 (GRCm39) |
T731A |
probably benign |
Het |
| Gm44501 |
T |
A |
17: 40,889,820 (GRCm39) |
H111Q |
possibly damaging |
Het |
| Gsdmc |
T |
C |
15: 63,650,551 (GRCm39) |
M277V |
probably benign |
Het |
| Hira |
A |
G |
16: 18,772,789 (GRCm39) |
D867G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,462,127 (GRCm39) |
S5184P |
probably benign |
Het |
| Ighv1-26 |
A |
C |
12: 114,752,407 (GRCm39) |
F7V |
probably benign |
Het |
| Igkv4-81 |
C |
T |
6: 68,967,796 (GRCm39) |
E102K |
possibly damaging |
Het |
| Inmt |
G |
T |
6: 55,147,990 (GRCm39) |
S213Y |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,135,335 (GRCm39) |
M360L |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,631,416 (GRCm39) |
S827P |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnk12 |
C |
A |
17: 88,054,122 (GRCm39) |
R180L |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,510,031 (GRCm39) |
S1291N |
probably benign |
Het |
| Mettl21a |
T |
C |
1: 64,647,285 (GRCm39) |
T91A |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,407 (GRCm39) |
I426V |
possibly damaging |
Het |
| Mrpl21 |
T |
G |
19: 3,337,704 (GRCm39) |
V137G |
probably damaging |
Het |
| Nrbp2 |
T |
C |
15: 75,961,626 (GRCm39) |
N218S |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,820 (GRCm39) |
N579S |
probably benign |
Het |
| Nsf |
T |
C |
11: 103,763,988 (GRCm39) |
N365S |
probably damaging |
Het |
| Or6c5 |
A |
G |
10: 129,074,656 (GRCm39) |
I213V |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,272,383 (GRCm39) |
D89E |
probably benign |
Het |
| Osbpl3 |
C |
T |
6: 50,313,194 (GRCm39) |
|
probably null |
Het |
| Oscar |
T |
A |
7: 3,614,843 (GRCm39) |
H43L |
probably benign |
Het |
| Pam |
C |
T |
1: 97,826,065 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
T |
16: 13,358,942 (GRCm39) |
M600K |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,532 (GRCm39) |
T387N |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,096,706 (GRCm39) |
Y737N |
possibly damaging |
Het |
| Ptch1 |
G |
A |
13: 63,681,448 (GRCm39) |
P613L |
probably benign |
Het |
| Ptprt |
A |
C |
2: 161,397,381 (GRCm39) |
C1129G |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,860,983 (GRCm39) |
S157L |
probably benign |
Het |
| Rest |
T |
A |
5: 77,416,098 (GRCm39) |
M104K |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,437,142 (GRCm39) |
S513P |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,201,808 (GRCm39) |
I1000N |
probably damaging |
Het |
| Scube2 |
C |
T |
7: 109,430,969 (GRCm39) |
G410E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,304,089 (GRCm39) |
E264G |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Smc4 |
T |
G |
3: 68,914,662 (GRCm39) |
S92A |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,467 (GRCm39) |
D205G |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,856,149 (GRCm39) |
T596A |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,203 (GRCm39) |
R390G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,377,768 (GRCm39) |
F842S |
probably damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,898 (GRCm39) |
H290N |
probably damaging |
Het |
| Stpg3 |
A |
T |
2: 25,103,516 (GRCm39) |
V191D |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,120,290 (GRCm39) |
R350H |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,380,935 (GRCm39) |
E411G |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,381,808 (GRCm39) |
|
probably null |
Het |
| Tns3 |
A |
G |
11: 8,395,702 (GRCm39) |
I1234T |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,503 (GRCm39) |
E197G |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,531 (GRCm39) |
T1143K |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,593 (GRCm39) |
V671E |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,049,529 (GRCm39) |
V29A |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,080,735 (GRCm39) |
M2450I |
probably benign |
Het |
| Zfp869 |
A |
T |
8: 70,159,849 (GRCm39) |
C241* |
probably null |
Het |
|
| Other mutations in Adam18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Adam18
|
APN |
8 |
25,118,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01649:Adam18
|
APN |
8 |
25,104,912 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02212:Adam18
|
APN |
8 |
25,127,195 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02455:Adam18
|
APN |
8 |
25,141,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02525:Adam18
|
APN |
8 |
25,131,783 (GRCm39) |
splice site |
probably benign |
|
|
IGL02525:Adam18
|
APN |
8 |
25,101,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02966:Adam18
|
APN |
8 |
25,101,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL03136:Adam18
|
APN |
8 |
25,131,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G5030:Adam18
|
UTSW |
8 |
25,141,872 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0135:Adam18
|
UTSW |
8 |
25,155,558 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0280:Adam18
|
UTSW |
8 |
25,164,070 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0389:Adam18
|
UTSW |
8 |
25,119,653 (GRCm39) |
splice site |
probably null |
|
|
R0390:Adam18
|
UTSW |
8 |
25,164,070 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0443:Adam18
|
UTSW |
8 |
25,119,653 (GRCm39) |
splice site |
probably null |
|
|
R0479:Adam18
|
UTSW |
8 |
25,141,838 (GRCm39) |
missense |
probably benign |
|
|
R0578:Adam18
|
UTSW |
8 |
25,131,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0645:Adam18
|
UTSW |
8 |
25,162,136 (GRCm39) |
nonsense |
probably null |
|
|
R0881:Adam18
|
UTSW |
8 |
25,162,159 (GRCm39) |
splice site |
probably benign |
|
|
R0885:Adam18
|
UTSW |
8 |
25,141,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Adam18
|
UTSW |
8 |
25,137,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0973:Adam18
|
UTSW |
8 |
25,137,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0974:Adam18
|
UTSW |
8 |
25,137,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1005:Adam18
|
UTSW |
8 |
25,155,530 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1356:Adam18
|
UTSW |
8 |
25,158,611 (GRCm39) |
splice site |
probably benign |
|
|
R1510:Adam18
|
UTSW |
8 |
25,115,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1552:Adam18
|
UTSW |
8 |
25,136,377 (GRCm39) |
missense |
probably benign |
|
|
R1568:Adam18
|
UTSW |
8 |
25,137,799 (GRCm39) |
splice site |
probably null |
|
|
R1639:Adam18
|
UTSW |
8 |
25,142,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1968:Adam18
|
UTSW |
8 |
25,136,463 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2029:Adam18
|
UTSW |
8 |
25,140,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Adam18
|
UTSW |
8 |
25,162,082 (GRCm39) |
splice site |
probably benign |
|
|
R2211:Adam18
|
UTSW |
8 |
25,118,171 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2237:Adam18
|
UTSW |
8 |
25,136,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2238:Adam18
|
UTSW |
8 |
25,136,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2239:Adam18
|
UTSW |
8 |
25,136,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2518:Adam18
|
UTSW |
8 |
25,127,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Adam18
|
UTSW |
8 |
25,118,248 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3426:Adam18
|
UTSW |
8 |
25,157,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3428:Adam18
|
UTSW |
8 |
25,157,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3967:Adam18
|
UTSW |
8 |
25,119,726 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4833:Adam18
|
UTSW |
8 |
25,164,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4965:Adam18
|
UTSW |
8 |
25,131,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Adam18
|
UTSW |
8 |
25,115,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5534:Adam18
|
UTSW |
8 |
25,155,530 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5920:Adam18
|
UTSW |
8 |
25,164,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Adam18
|
UTSW |
8 |
25,104,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Adam18
|
UTSW |
8 |
25,119,691 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6479:Adam18
|
UTSW |
8 |
25,119,681 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6516:Adam18
|
UTSW |
8 |
25,164,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Adam18
|
UTSW |
8 |
25,155,518 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7194:Adam18
|
UTSW |
8 |
25,141,868 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7226:Adam18
|
UTSW |
8 |
25,137,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Adam18
|
UTSW |
8 |
25,157,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7397:Adam18
|
UTSW |
8 |
25,136,321 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7575:Adam18
|
UTSW |
8 |
25,115,873 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7786:Adam18
|
UTSW |
8 |
25,101,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7872:Adam18
|
UTSW |
8 |
25,101,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8069:Adam18
|
UTSW |
8 |
25,118,246 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8411:Adam18
|
UTSW |
8 |
25,142,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Adam18
|
UTSW |
8 |
25,142,189 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8785:Adam18
|
UTSW |
8 |
25,140,911 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8803:Adam18
|
UTSW |
8 |
25,137,878 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8882:Adam18
|
UTSW |
8 |
25,136,438 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8944:Adam18
|
UTSW |
8 |
25,164,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Adam18
|
UTSW |
8 |
25,127,162 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9184:Adam18
|
UTSW |
8 |
25,137,847 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9258:Adam18
|
UTSW |
8 |
25,158,574 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9306:Adam18
|
UTSW |
8 |
25,136,420 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9377:Adam18
|
UTSW |
8 |
25,104,859 (GRCm39) |
nonsense |
probably null |
|
|
R9472:Adam18
|
UTSW |
8 |
25,127,248 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9508:Adam18
|
UTSW |
8 |
25,143,778 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9567:Adam18
|
UTSW |
8 |
25,118,210 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9603:Adam18
|
UTSW |
8 |
25,118,147 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCCAGTTCACTTCATAGC -3'
(R):5'- AGCTCTGAACAAACACTGCTATTG -3'
Sequencing Primer
(F):5'- CATAGCATCAGAGTAGCTCACTTGG -3'
(R):5'- CTGAACAAACACTGCTATTGCTTTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation