Incidental Mutation 'IGL02828:Adamts6'
| ID |
361319 |
| 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 # |
IGL02828
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104433978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 136
(Y136H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065766
AA Change: Y136H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: Y136H
| 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
AA Change: Y136H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224208
AA Change: Y136H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224303
AA Change: Y136H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224742
AA Change: Y136H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
AA Change: Y136H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,871,720 (GRCm39) |
T86I |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,884,319 (GRCm39) |
S93N |
possibly damaging |
Het |
| Ahdc1 |
A |
T |
4: 132,790,232 (GRCm39) |
K491I |
possibly damaging |
Het |
| Alb |
C |
A |
5: 90,615,247 (GRCm39) |
A253E |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,923,932 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,718 (GRCm39) |
N1909K |
possibly damaging |
Het |
| Atosa |
G |
T |
9: 74,913,714 (GRCm39) |
A123S |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,613,599 (GRCm39) |
V457D |
possibly damaging |
Het |
| Atxn7 |
G |
T |
14: 14,090,056 (GRCm38) |
G334W |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Clec2h |
T |
A |
6: 128,652,885 (GRCm39) |
H217Q |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,281 (GRCm39) |
E1416G |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,721,501 (GRCm39) |
|
probably benign |
Het |
| Ddr2 |
C |
T |
1: 169,816,082 (GRCm39) |
A542T |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,909,247 (GRCm39) |
N174S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,875,512 (GRCm39) |
S151P |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,461 (GRCm39) |
I206T |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,041 (GRCm39) |
I131N |
possibly damaging |
Het |
| Fdxacb1 |
G |
A |
9: 50,682,864 (GRCm39) |
V276I |
possibly damaging |
Het |
| Gpr146 |
A |
T |
5: 139,378,576 (GRCm39) |
Y126F |
probably damaging |
Het |
| Hivep3 |
A |
T |
4: 119,954,929 (GRCm39) |
K1082* |
probably null |
Het |
| Ifnar1 |
T |
A |
16: 91,302,304 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,829,057 (GRCm39) |
V25A |
probably benign |
Het |
| Klhl2 |
C |
A |
8: 65,232,791 (GRCm39) |
R162L |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,244 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,305,639 (GRCm39) |
N303S |
probably benign |
Het |
| Mtpap |
A |
T |
18: 4,386,207 (GRCm39) |
N276Y |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,120,885 (GRCm39) |
G684S |
possibly damaging |
Het |
| Or10g3b |
T |
C |
14: 52,586,799 (GRCm39) |
R235G |
probably benign |
Het |
| Or14a256 |
A |
T |
7: 86,265,277 (GRCm39) |
V192E |
possibly damaging |
Het |
| Pak2 |
A |
T |
16: 31,840,674 (GRCm39) |
L469H |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,903 (GRCm39) |
L45Q |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,098,575 (GRCm39) |
|
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,709 (GRCm39) |
T386A |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,756,298 (GRCm39) |
T1645A |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,356,941 (GRCm39) |
V754E |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,521,695 (GRCm39) |
D437V |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,041,384 (GRCm39) |
E81V |
probably damaging |
Het |
| Rbp4 |
C |
A |
19: 38,106,717 (GRCm39) |
|
probably null |
Het |
| Rdh12 |
T |
C |
12: 79,265,459 (GRCm39) |
V211A |
probably damaging |
Het |
| Ret |
G |
A |
6: 118,153,168 (GRCm39) |
A500V |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,103,118 (GRCm39) |
F469S |
possibly damaging |
Het |
| Rmc1 |
C |
A |
18: 12,322,278 (GRCm39) |
A577D |
possibly damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,411,479 (GRCm39) |
P478T |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,390,282 (GRCm39) |
Y1579F |
probably benign |
Het |
| Sh3bp5 |
A |
T |
14: 31,156,106 (GRCm39) |
|
probably benign |
Het |
| Slc22a13 |
G |
T |
9: 119,024,773 (GRCm39) |
L235I |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,111,948 (GRCm39) |
T172S |
possibly damaging |
Het |
| Slitrk1 |
G |
T |
14: 109,149,048 (GRCm39) |
S554R |
possibly damaging |
Het |
| Tg |
G |
A |
15: 66,554,243 (GRCm39) |
G553S |
probably damaging |
Het |
| Tmem26 |
G |
A |
10: 68,611,215 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,754,820 (GRCm39) |
L1222Q |
probably benign |
Het |
| Vdac2 |
T |
C |
14: 21,893,957 (GRCm39) |
V249A |
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,943 (GRCm39) |
V115A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,429,345 (GRCm39) |
V577A |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,232,593 (GRCm39) |
E371G |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,362,178 (GRCm39) |
H980Q |
possibly 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 |
|
|
IGL03067:Adamts6
|
APN |
13 |
104,433,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Adamts6
|
APN |
13 |
104,581,464 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation