Incidental Mutation 'IGL03081:Adamts6'
| ID |
417892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts6
|
| Ensembl Gene |
ENSMUSG00000046169 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 6 |
| Synonyms |
b2b2029Clo, b2b2182Clo, b2b2187.1Clo, b2b1879.1Clo, A930019D11Rik, ADAM-TS6, b2b2228Clo |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
IGL03081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 104581464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065766
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
| 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 benign
Transcript: ENSMUST00000223562
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
C |
A |
19: 43,770,841 (GRCm39) |
|
probably benign |
Het |
| Acan |
T |
G |
7: 78,748,291 (GRCm39) |
S1021A |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,086 (GRCm39) |
K1018E |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
T |
C |
10: 98,830,675 (GRCm39) |
|
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,654,995 (GRCm39) |
L20* |
probably null |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,368 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
T |
G |
18: 34,769,757 (GRCm39) |
K454T |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,982 (GRCm39) |
I158F |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 4,999,527 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clec2i |
A |
T |
6: 128,871,728 (GRCm39) |
Y113F |
probably damaging |
Het |
| Dmpk |
T |
A |
7: 18,821,458 (GRCm39) |
S239T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,905,347 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,084,885 (GRCm39) |
Y359H |
probably benign |
Het |
| Eya1 |
A |
T |
1: 14,253,415 (GRCm39) |
F520L |
possibly damaging |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,817 (GRCm39) |
I217F |
probably damaging |
Het |
| Gm12258 |
A |
G |
11: 58,749,085 (GRCm39) |
N87D |
probably benign |
Het |
| Gp6 |
A |
G |
7: 4,374,647 (GRCm39) |
S225P |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,696,187 (GRCm39) |
Y619C |
probably damaging |
Het |
| Lars1 |
A |
G |
18: 42,343,156 (GRCm39) |
I1087T |
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,347,421 (GRCm39) |
H3091Q |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,306,150 (GRCm39) |
S88P |
possibly damaging |
Het |
| Mrps23 |
G |
A |
11: 88,101,043 (GRCm39) |
R117Q |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,987,339 (GRCm39) |
S384G |
probably damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,373 (GRCm39) |
I135N |
possibly damaging |
Het |
| Noto |
T |
C |
6: 85,401,091 (GRCm39) |
F40S |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,600,544 (GRCm39) |
V41D |
possibly damaging |
Het |
| Or8b50 |
C |
T |
9: 38,518,166 (GRCm39) |
A135V |
probably benign |
Het |
| Papola |
T |
A |
12: 105,785,114 (GRCm39) |
H415Q |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,728,097 (GRCm39) |
T557I |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,906,274 (GRCm39) |
|
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
| Pygm |
T |
C |
19: 6,438,851 (GRCm39) |
S226P |
possibly damaging |
Het |
| Rnf17 |
T |
A |
14: 56,671,828 (GRCm39) |
S273R |
probably benign |
Het |
| Scamp2 |
T |
C |
9: 57,494,410 (GRCm39) |
V261A |
possibly damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,546,315 (GRCm39) |
F153L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,667,186 (GRCm39) |
D1735E |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,017,507 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
C |
T |
6: 132,732,497 (GRCm39) |
L269F |
possibly damaging |
Het |
| Tmem260 |
A |
C |
14: 48,733,750 (GRCm39) |
I216L |
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,791,637 (GRCm39) |
A116S |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,102,193 (GRCm39) |
K991R |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,138 (GRCm39) |
Y89C |
probably benign |
Het |
| Vps13b |
A |
C |
15: 35,875,966 (GRCm39) |
I2784L |
probably damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,326,612 (GRCm39) |
K141N |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,552,126 (GRCm39) |
M259K |
probably damaging |
Het |
|
| Other mutations in Adamts6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Adamts6
|
APN |
13 |
104,566,298 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL00583:Adamts6
|
APN |
13 |
104,433,726 (GRCm39) |
nonsense |
probably null |
|
|
IGL01305:Adamts6
|
APN |
13 |
104,526,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01448:Adamts6
|
APN |
13 |
104,433,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Adamts6
|
APN |
13 |
104,526,700 (GRCm39) |
splice site |
probably benign |
|
|
IGL01678:Adamts6
|
APN |
13 |
104,450,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01737:Adamts6
|
APN |
13 |
104,526,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02152:Adamts6
|
APN |
13 |
104,450,168 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02217:Adamts6
|
APN |
13 |
104,598,873 (GRCm39) |
splice site |
probably benign |
|
|
IGL02828:Adamts6
|
APN |
13 |
104,433,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03067:Adamts6
|
APN |
13 |
104,433,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03159:Adamts6
|
APN |
13 |
104,580,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Adamts6
|
APN |
13 |
104,450,842 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
De_vito
|
UTSW |
13 |
104,483,900 (GRCm39) |
critical splice donor site |
probably null |
|
|
festinator
|
UTSW |
13 |
104,616,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU22:Adamts6
|
UTSW |
13 |
104,526,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0007:Adamts6
|
UTSW |
13 |
104,433,999 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0362:Adamts6
|
UTSW |
13 |
104,526,584 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0504:Adamts6
|
UTSW |
13 |
104,563,438 (GRCm39) |
splice site |
probably benign |
|
|
R0549:Adamts6
|
UTSW |
13 |
104,433,763 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0566:Adamts6
|
UTSW |
13 |
104,581,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0703:Adamts6
|
UTSW |
13 |
104,489,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Adamts6
|
UTSW |
13 |
104,450,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Adamts6
|
UTSW |
13 |
104,550,297 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1500:Adamts6
|
UTSW |
13 |
104,449,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Adamts6
|
UTSW |
13 |
104,630,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Adamts6
|
UTSW |
13 |
104,581,383 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1619:Adamts6
|
UTSW |
13 |
104,449,285 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1727:Adamts6
|
UTSW |
13 |
104,565,472 (GRCm39) |
splice site |
probably benign |
|
|
R1967:Adamts6
|
UTSW |
13 |
104,563,459 (GRCm39) |
nonsense |
probably null |
|
|
R2013:Adamts6
|
UTSW |
13 |
104,450,812 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2079:Adamts6
|
UTSW |
13 |
104,598,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2432:Adamts6
|
UTSW |
13 |
104,563,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3118:Adamts6
|
UTSW |
13 |
104,450,787 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4125:Adamts6
|
UTSW |
13 |
104,449,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Adamts6
|
UTSW |
13 |
104,450,787 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4795:Adamts6
|
UTSW |
13 |
104,580,636 (GRCm39) |
nonsense |
probably null |
|
|
R4841:Adamts6
|
UTSW |
13 |
104,449,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4976:Adamts6
|
UTSW |
13 |
104,433,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5085:Adamts6
|
UTSW |
13 |
104,443,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5234:Adamts6
|
UTSW |
13 |
104,630,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Adamts6
|
UTSW |
13 |
104,489,323 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5753:Adamts6
|
UTSW |
13 |
104,483,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Adamts6
|
UTSW |
13 |
104,616,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Adamts6
|
UTSW |
13 |
104,433,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Adamts6
|
UTSW |
13 |
104,483,900 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6243:Adamts6
|
UTSW |
13 |
104,450,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6257:Adamts6
|
UTSW |
13 |
104,598,790 (GRCm39) |
missense |
probably benign |
|
|
R6743:Adamts6
|
UTSW |
13 |
104,565,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Adamts6
|
UTSW |
13 |
104,450,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7113:Adamts6
|
UTSW |
13 |
104,449,267 (GRCm39) |
missense |
probably benign |
|
|
R7351:Adamts6
|
UTSW |
13 |
104,526,620 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7520:Adamts6
|
UTSW |
13 |
104,433,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7866:Adamts6
|
UTSW |
13 |
104,550,257 (GRCm39) |
nonsense |
probably null |
|
|
R8274:Adamts6
|
UTSW |
13 |
104,450,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8348:Adamts6
|
UTSW |
13 |
104,616,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8448:Adamts6
|
UTSW |
13 |
104,616,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8686:Adamts6
|
UTSW |
13 |
104,450,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8691:Adamts6
|
UTSW |
13 |
104,450,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8962:Adamts6
|
UTSW |
13 |
104,433,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8978:Adamts6
|
UTSW |
13 |
104,512,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Adamts6
|
UTSW |
13 |
104,598,793 (GRCm39) |
missense |
probably benign |
|
|
R9080:Adamts6
|
UTSW |
13 |
104,449,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9152:Adamts6
|
UTSW |
13 |
104,613,275 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9213:Adamts6
|
UTSW |
13 |
104,581,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Adamts6
|
UTSW |
13 |
104,489,313 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9674:Adamts6
|
UTSW |
13 |
104,563,448 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0065:Adamts6
|
UTSW |
13 |
104,630,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation