Incidental Mutation 'R2079:Adamts6'
| ID |
229377 |
| 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 |
040084-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
R2079 (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 T
at 104598746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 862
(R862S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153359
(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: R862S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: R862S
| 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
AA Change: R862S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 97.4%
- 20x: 95.4%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoa |
T |
C |
7: 126,396,076 (GRCm39) |
D164G |
probably null |
Het |
| Ankle2 |
T |
C |
5: 110,392,371 (GRCm39) |
V459A |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,907,902 (GRCm39) |
Y482C |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,956,358 (GRCm39) |
R1074C |
probably benign |
Het |
| Ciart |
G |
T |
3: 95,786,350 (GRCm39) |
H242N |
probably damaging |
Het |
| Cidec |
T |
A |
6: 113,402,615 (GRCm39) |
M220L |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,713,534 (GRCm39) |
I699T |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,207 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp2j6 |
C |
A |
4: 96,419,962 (GRCm39) |
L256F |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,345 (GRCm39) |
Y148* |
probably null |
Het |
| Depdc5 |
T |
A |
5: 33,104,018 (GRCm39) |
I373N |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,360,721 (GRCm39) |
M268K |
probably damaging |
Het |
| Fam118b |
C |
A |
9: 35,134,960 (GRCm39) |
V216F |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,532,148 (GRCm39) |
V487A |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,718,513 (GRCm39) |
R147* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,291,893 (GRCm39) |
S544P |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,341,732 (GRCm39) |
Q1342K |
probably benign |
Het |
| Garin3 |
T |
G |
11: 46,295,934 (GRCm39) |
V102G |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,881 (GRCm39) |
M84T |
possibly damaging |
Het |
| Gm20481 |
T |
C |
17: 35,189,196 (GRCm39) |
K569R |
probably benign |
Het |
| Gm4871 |
A |
C |
5: 144,966,741 (GRCm39) |
D247E |
possibly damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,424 (GRCm39) |
N248K |
probably benign |
Het |
| Gulo |
A |
G |
14: 66,227,832 (GRCm39) |
Y367H |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,244,572 (GRCm39) |
E120G |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,868,404 (GRCm39) |
N51K |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,720 (GRCm39) |
D183G |
probably damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,342,806 (GRCm39) |
T439S |
probably benign |
Het |
| Hoxd3 |
A |
C |
2: 74,574,610 (GRCm39) |
E85D |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,690,660 (GRCm39) |
M694K |
probably damaging |
Het |
| Jag2 |
A |
G |
12: 112,883,997 (GRCm39) |
I194T |
probably damaging |
Het |
| Jrkl |
A |
T |
9: 13,244,864 (GRCm39) |
F266I |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,260 (GRCm39) |
I436V |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,936,570 (GRCm39) |
D284V |
probably damaging |
Het |
| Khdrbs2 |
A |
G |
1: 32,506,955 (GRCm39) |
T200A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,557,278 (GRCm39) |
D1143G |
possibly damaging |
Het |
| Kremen1 |
G |
GGGGT |
11: 5,151,794 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 27,245,049 (GRCm39) |
I244S |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,867,301 (GRCm39) |
P99S |
possibly damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,938,875 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Man2b2 |
C |
T |
5: 36,971,716 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mmp2 |
T |
A |
8: 93,576,817 (GRCm39) |
N77K |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,556,482 (GRCm39) |
E1009G |
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,828,581 (GRCm39) |
Y658H |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,524,835 (GRCm39) |
L215P |
possibly damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,408,417 (GRCm39) |
F526L |
probably benign |
Het |
| Or10p21 |
T |
C |
10: 128,847,898 (GRCm39) |
V248A |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,702 (GRCm39) |
F333L |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,660,507 (GRCm39) |
L329P |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,224 (GRCm39) |
Q250R |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,436,362 (GRCm39) |
L776Q |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,942,257 (GRCm39) |
M700K |
probably benign |
Het |
| Pla2g6 |
C |
T |
15: 79,197,194 (GRCm39) |
V127M |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,219,776 (GRCm39) |
S80P |
probably damaging |
Het |
| Sema3a |
C |
T |
5: 13,501,098 (GRCm39) |
T47I |
possibly damaging |
Het |
| Sik2 |
C |
T |
9: 50,818,706 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
C |
9: 56,996,807 (GRCm39) |
V112A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,736,257 (GRCm39) |
A472T |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,311,502 (GRCm39) |
V561A |
probably benign |
Het |
| Syt16 |
C |
T |
12: 74,285,073 (GRCm39) |
T422I |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,437 (GRCm39) |
H141L |
probably damaging |
Het |
| Tmem252 |
A |
T |
19: 24,655,017 (GRCm39) |
E131D |
probably benign |
Het |
| Trim55 |
T |
G |
3: 19,698,830 (GRCm39) |
L20V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,725,291 (GRCm39) |
V83D |
probably benign |
Het |
| Utf1 |
C |
T |
7: 139,524,808 (GRCm39) |
R309* |
probably null |
Het |
| Uxs1 |
T |
C |
1: 43,804,133 (GRCm39) |
T261A |
probably damaging |
Het |
| Vmn1r24 |
T |
C |
6: 57,932,655 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,121 (GRCm39) |
D77V |
probably damaging |
Het |
| Vmn2r74 |
T |
G |
7: 85,606,383 (GRCm39) |
H321P |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,930,371 (GRCm39) |
|
probably null |
Het |
| Zwilch |
T |
A |
9: 64,060,856 (GRCm39) |
Q332L |
probably damaging |
Het |
| Zwilch |
G |
T |
9: 64,060,857 (GRCm39) |
Q332K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACACTTCTGTCCTGTTTAGAG -3'
(R):5'- TTGTGTCTCACTCCACAGGAAC -3'
Sequencing Primer
(F):5'- GTCCTGTTTAGAGAACTAGACAAGTG -3'
(R):5'- CAATTTTACAAGAAGCAAGGTGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation