Incidental Mutation 'IGL01448:Adamts6'
| ID |
84496 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts6
|
| Ensembl Gene |
ENSMUSG00000046169 |
| Gene Name |
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6 |
| Synonyms |
b2b2187.1Clo, b2b2182Clo, ADAM-TS6, b2b2029Clo, b2b1879.1Clo, b2b2228Clo, A930019D11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
IGL01448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104287835-104496695 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104297164 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 34
(E34K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065766
AA Change: E34K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: E34K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
43 |
191 |
4.2e-40 |
PFAM |
|
Pfam:Reprolysin_5
|
248 |
443 |
3.8e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
248 |
464 |
4.9e-12 |
PFAM |
|
Pfam:Reprolysin
|
250 |
468 |
1.6e-27 |
PFAM |
|
Pfam:Reprolysin_2
|
268 |
458 |
5.6e-15 |
PFAM |
|
Pfam:Reprolysin_3
|
272 |
414 |
2.6e-14 |
PFAM |
|
TSP1
|
561 |
613 |
3.98e-13 |
SMART |
|
Pfam:ADAM_spacer1
|
717 |
829 |
2.9e-41 |
PFAM |
|
TSP1
|
843 |
900 |
2.49e-5 |
SMART |
|
TSP1
|
902 |
960 |
2.87e-5 |
SMART |
|
TSP1
|
963 |
1018 |
1.36e-1 |
SMART |
|
TSP1
|
1021 |
1069 |
2.36e-6 |
SMART |
|
Pfam:PLAC
|
1083 |
1115 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223562
AA Change: E34K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224208
AA Change: E34K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224303
AA Change: E34K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224742
AA Change: E34K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224784
AA Change: E34K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
T |
2: 130,405,847 (GRCm38) |
E75D |
possibly damaging |
Het |
| 1700084J12Rik |
A |
G |
15: 33,405,633 (GRCm38) |
|
probably benign |
Het |
| 2610303G11Rik |
T |
A |
9: 98,186,709 (GRCm38) |
|
noncoding transcript |
Het |
| 4931414P19Rik |
T |
C |
14: 54,585,960 (GRCm38) |
D320G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,677,899 (GRCm38) |
N3142K |
possibly damaging |
Het |
| Anapc7 |
G |
A |
5: 122,428,213 (GRCm38) |
A62T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,520,422 (GRCm38) |
P1152L |
probably benign |
Het |
| Cc2d2a |
C |
T |
5: 43,684,185 (GRCm38) |
T181I |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,393,239 (GRCm38) |
L2835P |
probably damaging |
Het |
| Ctns |
A |
T |
11: 73,188,722 (GRCm38) |
V99D |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,771,927 (GRCm38) |
R429G |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,134,137 (GRCm38) |
V218A |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,865,563 (GRCm38) |
|
probably benign |
Het |
| Erich1 |
G |
T |
8: 14,078,853 (GRCm38) |
T29N |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,729,265 (GRCm38) |
E215G |
probably damaging |
Het |
| Fam184a |
G |
T |
10: 53,698,949 (GRCm38) |
A188E |
probably benign |
Het |
| Fign |
A |
G |
2: 63,979,688 (GRCm38) |
S413P |
probably damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,349,696 (GRCm38) |
S33P |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,450,677 (GRCm38) |
|
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,323,461 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
T |
C |
2: 181,233,977 (GRCm38) |
T1575A |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,474,730 (GRCm38) |
E32G |
probably damaging |
Het |
| Ints5 |
C |
T |
19: 8,895,487 (GRCm38) |
P270L |
possibly damaging |
Het |
| Itga7 |
G |
T |
10: 128,949,468 (GRCm38) |
E847* |
probably null |
Het |
| Kcns3 |
A |
C |
12: 11,091,643 (GRCm38) |
S352A |
possibly damaging |
Het |
| Kiz |
A |
G |
2: 146,863,801 (GRCm38) |
K94E |
probably benign |
Het |
| Lin7b |
C |
T |
7: 45,369,200 (GRCm38) |
V12M |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,811,704 (GRCm38) |
I1409N |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,644,090 (GRCm38) |
H407R |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 33,898,802 (GRCm38) |
T506A |
probably damaging |
Het |
| Olfr497 |
T |
A |
7: 108,423,028 (GRCm38) |
Y152* |
probably null |
Het |
| Olfr763 |
A |
G |
10: 129,011,860 (GRCm38) |
T192A |
probably damaging |
Het |
| Olfr816 |
A |
G |
10: 129,912,245 (GRCm38) |
I11T |
possibly damaging |
Het |
| Olfr984 |
A |
T |
9: 40,101,082 (GRCm38) |
M136K |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,676,394 (GRCm38) |
|
probably benign |
Het |
| Pes1 |
G |
A |
11: 3,977,979 (GRCm38) |
E544K |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,740,745 (GRCm38) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 79,068,937 (GRCm38) |
M1521V |
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 79,103,962 (GRCm38) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,040,405 (GRCm38) |
V735A |
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,945,076 (GRCm38) |
S316P |
possibly damaging |
Het |
| Smarce1 |
C |
T |
11: 99,210,187 (GRCm38) |
G373E |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,701,559 (GRCm38) |
R918S |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 35,052,331 (GRCm38) |
K227R |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,864,864 (GRCm38) |
|
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,215,979 (GRCm38) |
I425V |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,630,328 (GRCm38) |
T231A |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,552,609 (GRCm38) |
G442* |
probably null |
Het |
| Tnks |
A |
G |
8: 34,839,982 (GRCm38) |
Y1138H |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,996,857 (GRCm38) |
I231F |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,406,395 (GRCm38) |
N388K |
probably damaging |
Het |
| Zbed3 |
A |
G |
13: 95,336,634 (GRCm38) |
K189E |
possibly damaging |
Het |
| Zfp512b |
T |
C |
2: 181,587,785 (GRCm38) |
T625A |
possibly damaging |
Het |
| Zfp827 |
A |
T |
8: 79,060,733 (GRCm38) |
Q176L |
possibly damaging |
Het |
|
| Other mutations in Adamts6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Adamts6
|
APN |
13 |
104,429,790 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL00583:Adamts6
|
APN |
13 |
104,297,218 (GRCm38) |
nonsense |
probably null |
|
|
IGL01305:Adamts6
|
APN |
13 |
104,390,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01517:Adamts6
|
APN |
13 |
104,390,192 (GRCm38) |
splice site |
probably benign |
|
|
IGL01678:Adamts6
|
APN |
13 |
104,313,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01737:Adamts6
|
APN |
13 |
104,390,135 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02152:Adamts6
|
APN |
13 |
104,313,660 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL02217:Adamts6
|
APN |
13 |
104,462,365 (GRCm38) |
splice site |
probably benign |
|
|
IGL02828:Adamts6
|
APN |
13 |
104,297,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03067:Adamts6
|
APN |
13 |
104,297,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03081:Adamts6
|
APN |
13 |
104,444,956 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03159:Adamts6
|
APN |
13 |
104,444,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03411:Adamts6
|
APN |
13 |
104,314,334 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
De_vito
|
UTSW |
13 |
104,347,392 (GRCm38) |
critical splice donor site |
probably null |
|
|
festinator
|
UTSW |
13 |
104,479,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU22:Adamts6
|
UTSW |
13 |
104,390,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0007:Adamts6
|
UTSW |
13 |
104,297,491 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0362:Adamts6
|
UTSW |
13 |
104,390,076 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0504:Adamts6
|
UTSW |
13 |
104,426,930 (GRCm38) |
splice site |
probably benign |
|
|
R0549:Adamts6
|
UTSW |
13 |
104,297,255 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R0566:Adamts6
|
UTSW |
13 |
104,444,927 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0703:Adamts6
|
UTSW |
13 |
104,352,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0799:Adamts6
|
UTSW |
13 |
104,314,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0838:Adamts6
|
UTSW |
13 |
104,413,789 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1500:Adamts6
|
UTSW |
13 |
104,312,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1502:Adamts6
|
UTSW |
13 |
104,493,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1547:Adamts6
|
UTSW |
13 |
104,444,875 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1619:Adamts6
|
UTSW |
13 |
104,312,777 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1727:Adamts6
|
UTSW |
13 |
104,428,964 (GRCm38) |
splice site |
probably benign |
|
|
R1967:Adamts6
|
UTSW |
13 |
104,426,951 (GRCm38) |
nonsense |
probably null |
|
|
R2013:Adamts6
|
UTSW |
13 |
104,314,304 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2079:Adamts6
|
UTSW |
13 |
104,462,238 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2432:Adamts6
|
UTSW |
13 |
104,426,977 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3118:Adamts6
|
UTSW |
13 |
104,314,279 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4125:Adamts6
|
UTSW |
13 |
104,312,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4274:Adamts6
|
UTSW |
13 |
104,314,279 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4795:Adamts6
|
UTSW |
13 |
104,444,128 (GRCm38) |
nonsense |
probably null |
|
|
R4841:Adamts6
|
UTSW |
13 |
104,312,787 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4976:Adamts6
|
UTSW |
13 |
104,297,490 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5085:Adamts6
|
UTSW |
13 |
104,307,243 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5234:Adamts6
|
UTSW |
13 |
104,493,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5403:Adamts6
|
UTSW |
13 |
104,352,815 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5753:Adamts6
|
UTSW |
13 |
104,347,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6027:Adamts6
|
UTSW |
13 |
104,479,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6187:Adamts6
|
UTSW |
13 |
104,297,425 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6229:Adamts6
|
UTSW |
13 |
104,347,392 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6243:Adamts6
|
UTSW |
13 |
104,314,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6257:Adamts6
|
UTSW |
13 |
104,462,282 (GRCm38) |
missense |
probably benign |
|
|
R6743:Adamts6
|
UTSW |
13 |
104,428,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6775:Adamts6
|
UTSW |
13 |
104,313,652 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7113:Adamts6
|
UTSW |
13 |
104,312,759 (GRCm38) |
missense |
probably benign |
|
|
R7351:Adamts6
|
UTSW |
13 |
104,390,112 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7520:Adamts6
|
UTSW |
13 |
104,297,186 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7866:Adamts6
|
UTSW |
13 |
104,413,749 (GRCm38) |
nonsense |
probably null |
|
|
R8274:Adamts6
|
UTSW |
13 |
104,313,673 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8348:Adamts6
|
UTSW |
13 |
104,479,519 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8448:Adamts6
|
UTSW |
13 |
104,479,519 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8686:Adamts6
|
UTSW |
13 |
104,313,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8691:Adamts6
|
UTSW |
13 |
104,314,331 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8962:Adamts6
|
UTSW |
13 |
104,297,391 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8978:Adamts6
|
UTSW |
13 |
104,375,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9075:Adamts6
|
UTSW |
13 |
104,462,285 (GRCm38) |
missense |
probably benign |
|
|
R9080:Adamts6
|
UTSW |
13 |
104,312,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9152:Adamts6
|
UTSW |
13 |
104,476,767 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9213:Adamts6
|
UTSW |
13 |
104,444,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9536:Adamts6
|
UTSW |
13 |
104,352,805 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9674:Adamts6
|
UTSW |
13 |
104,426,940 (GRCm38) |
missense |
probably benign |
0.17 |
|
X0065:Adamts6
|
UTSW |
13 |
104,493,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation