Incidental Mutation 'R7226:Adam18'
| ID |
562160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
045298-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25137824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 339
(C339S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033957
AA Change: C339S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: C339S
| 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 damaging
Transcript: ENSMUST00000173833
AA Change: C339S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: C339S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025B11Rik |
C |
T |
15: 77,443,189 (GRCm39) |
V17I |
unknown |
Het |
| Acad8 |
T |
A |
9: 26,889,726 (GRCm39) |
K323* |
probably null |
Het |
| Anxa7 |
A |
G |
14: 20,510,263 (GRCm39) |
F396L |
probably damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,358,201 (GRCm39) |
V73D |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 80,862,340 (GRCm39) |
I270N |
probably damaging |
Het |
| Atrn |
T |
G |
2: 130,828,664 (GRCm39) |
C1070G |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,361,921 (GRCm39) |
N517S |
unknown |
Het |
| Bhmt1b |
A |
G |
18: 87,775,590 (GRCm39) |
D371G |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,644,503 (GRCm39) |
Q1181L |
probably benign |
Het |
| Cavin1 |
A |
C |
11: 100,861,284 (GRCm39) |
D3E |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,779,751 (GRCm39) |
L571P |
unknown |
Het |
| Ccbe1 |
A |
T |
18: 66,216,199 (GRCm39) |
C175S |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,013,995 (GRCm39) |
L5P |
unknown |
Het |
| Cd46 |
A |
G |
1: 194,724,314 (GRCm39) |
S362P |
possibly damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,863 (GRCm39) |
S198P |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,359 (GRCm39) |
R706G |
possibly damaging |
Het |
| Chd3 |
G |
T |
11: 69,260,037 (GRCm39) |
R61S |
unknown |
Het |
| Cpsf6 |
A |
C |
10: 117,197,727 (GRCm39) |
W253G |
unknown |
Het |
| Cyp27a1 |
G |
A |
1: 74,776,507 (GRCm39) |
G481D |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 36,002,039 (GRCm39) |
D218N |
possibly damaging |
Het |
| Dhx34 |
A |
T |
7: 15,932,801 (GRCm39) |
V1046D |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,341,423 (GRCm39) |
D608E |
probably benign |
Het |
| Dnajc6 |
C |
A |
4: 101,496,569 (GRCm39) |
A912E |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,694,794 (GRCm39) |
D1051G |
probably damaging |
Het |
| Fam217b |
C |
A |
2: 178,062,996 (GRCm39) |
A320E |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,590,689 (GRCm39) |
I169N |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,170,142 (GRCm39) |
C2210R |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,880,642 (GRCm39) |
S251T |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,462,384 (GRCm39) |
T813I |
probably benign |
Het |
| Ftl1-ps1 |
A |
T |
13: 74,555,114 (GRCm39) |
E131V |
probably damaging |
Het |
| Gins3 |
T |
A |
8: 96,364,499 (GRCm39) |
I83N |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,350 (GRCm39) |
T341A |
probably benign |
Het |
| Gja5 |
A |
G |
3: 96,958,174 (GRCm39) |
Y77C |
probably damaging |
Het |
| Gm7247 |
A |
G |
14: 51,602,808 (GRCm39) |
K48R |
probably damaging |
Het |
| Gsx2 |
C |
A |
5: 75,236,621 (GRCm39) |
S67* |
probably null |
Het |
| H2-Q5 |
T |
A |
17: 35,616,089 (GRCm39) |
L217Q |
|
Het |
| Impg2 |
T |
A |
16: 56,087,467 (GRCm39) |
C1095* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,776,801 (GRCm39) |
W222L |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,059,512 (GRCm39) |
D530V |
possibly damaging |
Het |
| Klhdc8a |
A |
T |
1: 132,230,344 (GRCm39) |
D153V |
probably damaging |
Het |
| Lin28a |
C |
T |
4: 133,733,619 (GRCm39) |
G143S |
probably damaging |
Het |
| Memo1 |
A |
G |
17: 74,509,338 (GRCm39) |
L227S |
probably damaging |
Het |
| Mettl27 |
T |
A |
5: 134,964,657 (GRCm39) |
V138E |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,708,328 (GRCm39) |
L474I |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,557,098 (GRCm39) |
N852S |
probably benign |
Het |
| Nfkbie |
T |
C |
17: 45,870,153 (GRCm39) |
V166A |
possibly damaging |
Het |
| Nktr |
T |
C |
9: 121,575,599 (GRCm39) |
M369T |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,149 (GRCm39) |
N589I |
probably benign |
Het |
| Nrn1 |
G |
A |
13: 36,914,577 (GRCm39) |
R8C |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,451 (GRCm39) |
I159T |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,503 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,441,324 (GRCm39) |
G253D |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,164 (GRCm39) |
D305E |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,406,584 (GRCm39) |
G20D |
probably benign |
Het |
| Osbp |
T |
A |
19: 11,956,031 (GRCm39) |
D385E |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,463,802 (GRCm39) |
N547K |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,892,464 (GRCm39) |
D109E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,499,292 (GRCm39) |
T1036K |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,590,671 (GRCm39) |
R485L |
probably damaging |
Het |
| Rps26 |
A |
T |
10: 128,461,087 (GRCm39) |
F101I |
unknown |
Het |
| Sdsl |
T |
C |
5: 120,598,702 (GRCm39) |
N138S |
probably benign |
Het |
| Slc28a2b |
C |
A |
2: 122,353,013 (GRCm39) |
R453S |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,717,084 (GRCm39) |
H649Q |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,965,273 (GRCm39) |
F226Y |
probably benign |
Het |
| Srrd |
T |
C |
5: 112,485,322 (GRCm39) |
T334A |
unknown |
Het |
| St14 |
C |
T |
9: 31,011,448 (GRCm39) |
D448N |
possibly damaging |
Het |
| Tmem270 |
T |
A |
5: 134,930,538 (GRCm39) |
Q241L |
probably benign |
Het |
| Tubb4b |
T |
C |
2: 25,114,180 (GRCm39) |
D41G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,040,368 (GRCm39) |
M1616T |
possibly damaging |
Het |
| Vmn2r95 |
A |
T |
17: 18,672,245 (GRCm39) |
I733F |
possibly damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,684 (GRCm39) |
C385* |
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 |
|
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 |
|
R9476:Adam18
|
UTSW |
8 |
25,115,807 (GRCm39) |
missense |
probably benign |
0.18 |
|
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'- GGAAGAATGTATGCACACTTAGTC -3'
(R):5'- GCAAAGATGTTCATCATTTGCC -3'
Sequencing Primer
(F):5'- CACACTTAGTCATGATTAGGGGC -3'
(R):5'- AAGATGTTCATCATTTGCCTTTGTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation