Incidental Mutation 'R5234:Adamts6'
ID |
398239 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
042806-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.847)
|
Stock # |
R5234 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104630130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1091
(Y1091C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
AlphaFold |
D3Z1A5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065766
AA Change: Y1091C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064570 Gene: ENSMUSG00000046169 AA Change: Y1091C
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: ENSMUST00000224208
AA Change: Y1091C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
Bcan |
A |
T |
3: 87,903,453 (GRCm39) |
D246E |
probably damaging |
Het |
Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
Espnl |
A |
G |
1: 91,272,515 (GRCm39) |
D581G |
probably benign |
Het |
Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,265,407 (GRCm39) |
I121V |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,185,839 (GRCm39) |
Y54* |
probably null |
Het |
Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,892,145 (GRCm39) |
S238C |
probably damaging |
Het |
Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
Ttll11 |
A |
C |
2: 35,830,745 (GRCm39) |
Y209D |
probably damaging |
Het |
Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
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 |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTGGGAGAAAAGCCTTG -3'
(R):5'- GTAAGGACATCCATCCACTTCC -3'
Sequencing Primer
(F):5'- CCAAAAGAATGTTTCTGGTAGGCTG -3'
(R):5'- ATCCACTTCCTCTGGGTGG -3'
|
Posted On |
2016-07-06 |