Incidental Mutation 'IGL03162:Adam5'
| ID |
411461 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25271620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 596
(T596A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
| AlphaFold |
Q3TTE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050300
AA Change: T596A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: T596A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
16 |
142 |
1.6e-19 |
PFAM |
|
Pfam:Reprolysin
|
185 |
378 |
7.7e-59 |
PFAM |
|
DISIN
|
397 |
474 |
9.1e-42 |
SMART |
|
ACR
|
475 |
618 |
6.9e-58 |
SMART |
|
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118419
AA Change: T596A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: T596A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
16 |
142 |
4.7e-30 |
PFAM |
|
Pfam:Reprolysin
|
185 |
378 |
7.9e-56 |
PFAM |
|
DISIN
|
397 |
474 |
1.78e-39 |
SMART |
|
ACR
|
475 |
618 |
2.06e-55 |
SMART |
|
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130939
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132180
AA Change: T513A
|
| SMART Domains |
Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: T513A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
1 |
60 |
6.7e-14 |
PFAM |
|
Pfam:Reprolysin
|
103 |
296 |
2.5e-61 |
PFAM |
|
DISIN
|
315 |
392 |
1.78e-39 |
SMART |
|
ACR
|
393 |
536 |
2.06e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209935
AA Change: T596A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| Coding Region Coverage |
|
| 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. 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. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
| Acsl3 |
T |
C |
1: 78,676,887 (GRCm39) |
|
probably null |
Het |
| Adh6a |
T |
A |
3: 138,034,880 (GRCm39) |
Y336* |
probably null |
Het |
| Ak3 |
A |
T |
19: 29,000,236 (GRCm39) |
V225D |
possibly damaging |
Het |
| Aldh1a7 |
T |
A |
19: 20,685,645 (GRCm39) |
I302F |
probably benign |
Het |
| Amdhd1 |
T |
C |
10: 93,367,337 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
G |
A |
8: 3,491,301 (GRCm39) |
|
probably null |
Het |
| Caap1 |
A |
T |
4: 94,389,261 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
G |
A |
9: 107,875,210 (GRCm39) |
G70D |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,719,757 (GRCm39) |
F2445S |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,185,764 (GRCm39) |
V249A |
possibly damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,512,177 (GRCm39) |
V80F |
probably damaging |
Het |
| Col6a1 |
T |
A |
10: 76,553,885 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
T |
A |
18: 47,220,117 (GRCm39) |
L198Q |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,243 (GRCm39) |
L294P |
unknown |
Het |
| E2f6 |
T |
A |
12: 16,868,909 (GRCm39) |
D77E |
probably benign |
Het |
| Elf5 |
T |
A |
2: 103,260,751 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Entrep1 |
T |
G |
19: 23,965,824 (GRCm39) |
H225P |
probably damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,820 (GRCm39) |
V227A |
probably damaging |
Het |
| Fhip2b |
G |
T |
14: 70,824,994 (GRCm39) |
D447E |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
| Gm3543 |
A |
G |
14: 41,802,022 (GRCm39) |
I154T |
possibly damaging |
Het |
| Gpr150 |
T |
A |
13: 76,204,950 (GRCm39) |
|
probably benign |
Het |
| Gstp3 |
A |
G |
19: 4,109,255 (GRCm39) |
|
probably benign |
Het |
| Gzmm |
C |
T |
10: 79,528,790 (GRCm39) |
T64I |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,771,792 (GRCm39) |
K284* |
probably null |
Het |
| Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,131,055 (GRCm39) |
I94N |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,744,497 (GRCm39) |
N1531S |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,459,021 (GRCm39) |
S937G |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,207,426 (GRCm39) |
V311A |
probably damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,892 (GRCm39) |
Q109L |
probably null |
Het |
| Lrig2 |
A |
G |
3: 104,371,613 (GRCm39) |
F697L |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,764,725 (GRCm39) |
R773G |
probably benign |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,815 (GRCm39) |
V306I |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,368,463 (GRCm39) |
H1127R |
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,944,213 (GRCm39) |
D816V |
probably damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,530,783 (GRCm39) |
I219L |
probably damaging |
Het |
| Or10a3 |
T |
C |
7: 108,480,811 (GRCm39) |
M1V |
probably null |
Het |
| Or5w19 |
A |
C |
2: 87,698,484 (GRCm39) |
M50L |
probably benign |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,281 (GRCm39) |
L350P |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,905,301 (GRCm39) |
|
probably benign |
Het |
| Ppan |
T |
G |
9: 20,802,608 (GRCm39) |
L283R |
probably damaging |
Het |
| Rbfox3 |
A |
C |
11: 118,387,257 (GRCm39) |
S286A |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,812,330 (GRCm39) |
T273A |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,590,296 (GRCm39) |
|
probably null |
Het |
| Slc22a26 |
T |
A |
19: 7,779,466 (GRCm39) |
M117L |
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,822 (GRCm39) |
I96K |
probably damaging |
Het |
| Tcf15 |
G |
A |
2: 151,990,626 (GRCm39) |
R175H |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,247,037 (GRCm39) |
V320D |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,286 (GRCm39) |
N617S |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,785,133 (GRCm39) |
Y77C |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,978,930 (GRCm39) |
|
probably benign |
Het |
| Zfand6 |
A |
T |
7: 84,283,185 (GRCm39) |
S57R |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,151,500 (GRCm39) |
I462V |
probably benign |
Het |
|
| Other mutations in Adam5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Adam5
|
APN |
8 |
25,308,758 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01285:Adam5
|
APN |
8 |
25,271,610 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01310:Adam5
|
APN |
8 |
25,232,150 (GRCm39) |
intron |
probably benign |
|
|
IGL01510:Adam5
|
APN |
8 |
25,294,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01570:Adam5
|
APN |
8 |
25,300,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Adam5
|
APN |
8 |
25,271,775 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02191:Adam5
|
APN |
8 |
25,302,439 (GRCm39) |
nonsense |
probably null |
|
|
IGL02397:Adam5
|
APN |
8 |
25,234,149 (GRCm39) |
intron |
probably benign |
|
|
IGL02488:Adam5
|
APN |
8 |
25,282,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02490:Adam5
|
APN |
8 |
25,271,720 (GRCm39) |
nonsense |
probably null |
|
|
IGL02499:Adam5
|
APN |
8 |
25,271,581 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02539:Adam5
|
APN |
8 |
25,276,229 (GRCm39) |
nonsense |
probably null |
|
|
IGL02590:Adam5
|
APN |
8 |
25,234,151 (GRCm39) |
intron |
probably benign |
|
|
IGL02677:Adam5
|
APN |
8 |
25,302,395 (GRCm39) |
splice site |
probably benign |
|
|
IGL02679:Adam5
|
APN |
8 |
25,296,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Adam5
|
APN |
8 |
25,294,447 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03146:Adam5
|
APN |
8 |
25,294,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03284:Adam5
|
APN |
8 |
25,276,354 (GRCm39) |
splice site |
probably benign |
|
|
R0081:Adam5
|
UTSW |
8 |
25,271,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Adam5
|
UTSW |
8 |
25,237,557 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0398:Adam5
|
UTSW |
8 |
25,303,448 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0771:Adam5
|
UTSW |
8 |
25,276,315 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0925:Adam5
|
UTSW |
8 |
25,302,441 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1547:Adam5
|
UTSW |
8 |
25,300,729 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1985:Adam5
|
UTSW |
8 |
25,236,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2115:Adam5
|
UTSW |
8 |
25,234,161 (GRCm39) |
intron |
probably benign |
|
|
R2125:Adam5
|
UTSW |
8 |
25,305,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Adam5
|
UTSW |
8 |
25,305,496 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3151:Adam5
|
UTSW |
8 |
25,271,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3612:Adam5
|
UTSW |
8 |
25,308,105 (GRCm39) |
splice site |
probably benign |
|
|
R3844:Adam5
|
UTSW |
8 |
25,303,426 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3873:Adam5
|
UTSW |
8 |
25,305,125 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4514:Adam5
|
UTSW |
8 |
25,308,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4843:Adam5
|
UTSW |
8 |
25,303,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4866:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
|
R4900:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
|
R4900:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4903:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Adam5
|
UTSW |
8 |
25,276,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5259:Adam5
|
UTSW |
8 |
25,300,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5293:Adam5
|
UTSW |
8 |
25,300,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5724:Adam5
|
UTSW |
8 |
25,294,511 (GRCm39) |
nonsense |
probably null |
|
|
R5859:Adam5
|
UTSW |
8 |
25,303,477 (GRCm39) |
missense |
probably benign |
|
|
R6004:Adam5
|
UTSW |
8 |
25,271,685 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6175:Adam5
|
UTSW |
8 |
25,276,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6539:Adam5
|
UTSW |
8 |
25,272,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6994:Adam5
|
UTSW |
8 |
25,276,262 (GRCm39) |
nonsense |
probably null |
|
|
R6996:Adam5
|
UTSW |
8 |
25,296,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Adam5
|
UTSW |
8 |
25,296,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7115:Adam5
|
UTSW |
8 |
25,271,712 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7127:Adam5
|
UTSW |
8 |
25,300,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Adam5
|
UTSW |
8 |
25,305,541 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7780:Adam5
|
UTSW |
8 |
25,294,432 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8027:Adam5
|
UTSW |
8 |
25,272,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Adam5
|
UTSW |
8 |
25,303,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Adam5
|
UTSW |
8 |
25,271,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Adam5
|
UTSW |
8 |
25,300,719 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8359:Adam5
|
UTSW |
8 |
25,296,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Adam5
|
UTSW |
8 |
25,294,475 (GRCm39) |
nonsense |
probably null |
|
|
R8743:Adam5
|
UTSW |
8 |
25,276,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Adam5
|
UTSW |
8 |
25,294,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9442:Adam5
|
UTSW |
8 |
25,296,510 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9474:Adam5
|
UTSW |
8 |
25,237,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9602:Adam5
|
UTSW |
8 |
25,303,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9748:Adam5
|
UTSW |
8 |
25,301,068 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0019:Adam5
|
UTSW |
8 |
25,302,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Adam5
|
UTSW |
8 |
25,303,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0027:Adam5
|
UTSW |
8 |
25,308,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation