Incidental Mutation 'R8348:Adamts6'
| ID |
645385 |
| 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 |
067732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
R8348 (G1)
|
| Quality Score |
179.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104616027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1030
(C1030S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065766
AA Change: C1030S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: C1030S
| 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: C1030S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,461,022 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
C |
A |
7: 82,253,007 (GRCm39) |
T1527K |
possibly damaging |
Het |
| Akap9 |
G |
A |
5: 3,998,897 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
C |
A |
5: 110,389,909 (GRCm39) |
P457T |
possibly damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,868,007 (GRCm39) |
N91S |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,494,173 (GRCm39) |
Q203K |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,742,137 (GRCm39) |
D61E |
|
Het |
| Bmpr1a |
T |
A |
14: 34,136,759 (GRCm39) |
K477N |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,824,364 (GRCm39) |
I1040V |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,166,955 (GRCm39) |
F304L |
possibly damaging |
Het |
| Cdkn2a |
C |
A |
4: 89,200,291 (GRCm39) |
V20L |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,173 (GRCm39) |
S385G |
probably damaging |
Het |
| Cntrob |
A |
G |
11: 69,190,679 (GRCm39) |
F46L |
unknown |
Het |
| Cth |
T |
C |
3: 157,630,657 (GRCm39) |
D4G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,456,197 (GRCm39) |
H416Y |
probably damaging |
Het |
| Dennd6a |
C |
A |
14: 26,328,098 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,015,682 (GRCm39) |
Y1672C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,892,814 (GRCm39) |
I800V |
probably benign |
Het |
| Esrp2 |
A |
G |
8: 106,858,853 (GRCm39) |
Y595H |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,566,301 (GRCm39) |
Y497F |
probably benign |
Het |
| Fggy |
A |
G |
4: 95,732,427 (GRCm39) |
T473A |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,984,569 (GRCm39) |
L18Q |
probably damaging |
Het |
| Gm21103 |
C |
A |
14: 17,482,861 (GRCm39) |
R180L |
probably benign |
Het |
| Gstt2 |
C |
A |
10: 75,668,526 (GRCm39) |
R107L |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,358,319 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
G |
10: 119,938,791 (GRCm39) |
F561S |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,146,249 (GRCm39) |
T120A |
probably benign |
Het |
| Kdm5d |
G |
A |
Y: 914,056 (GRCm39) |
R331H |
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,586,455 (GRCm39) |
Y345H |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,159,825 (GRCm39) |
K418E |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,511,726 (GRCm39) |
T81S |
unknown |
Het |
| Med17 |
C |
T |
9: 15,173,735 (GRCm39) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,571,799 (GRCm39) |
I1373F |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,894 (GRCm39) |
Q543L |
possibly damaging |
Het |
| Nat9 |
T |
C |
11: 115,075,902 (GRCm39) |
T40A |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,292,619 (GRCm39) |
N455S |
probably damaging |
Het |
| Or52k2 |
C |
A |
7: 102,254,207 (GRCm39) |
F215L |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,117,534 (GRCm39) |
F599L |
probably benign |
Het |
| Pga5 |
T |
C |
19: 10,649,173 (GRCm39) |
Y249C |
probably damaging |
Het |
| Plekha8 |
A |
T |
6: 54,607,539 (GRCm39) |
K382M |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,753,149 (GRCm39) |
E119V |
probably damaging |
Het |
| Pnp |
A |
T |
14: 51,185,356 (GRCm39) |
H20L |
probably benign |
Het |
| Polq |
A |
T |
16: 36,837,559 (GRCm39) |
|
probably null |
Het |
| Psma3 |
T |
G |
12: 71,035,250 (GRCm39) |
I177R |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,240,784 (GRCm39) |
|
probably null |
Het |
| Ptprt |
A |
T |
2: 161,400,806 (GRCm39) |
L1077Q |
probably damaging |
Het |
| Rbm47 |
A |
T |
5: 66,184,573 (GRCm39) |
M10K |
possibly damaging |
Het |
| Rere |
A |
G |
4: 150,703,653 (GRCm39) |
D186G |
probably damaging |
Het |
| Rpl24 |
T |
C |
16: 55,787,453 (GRCm39) |
S38P |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,885,787 (GRCm39) |
F79L |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,903,041 (GRCm39) |
D1551V |
probably benign |
Het |
| Sos1 |
C |
A |
17: 80,741,548 (GRCm39) |
M412I |
probably benign |
Het |
| Spast |
G |
A |
17: 74,666,293 (GRCm39) |
V209I |
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,335,769 (GRCm39) |
Q340K |
possibly damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,185 (GRCm39) |
Y574C |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,791,346 (GRCm39) |
N1748S |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,098,474 (GRCm39) |
K16N |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ubc |
C |
T |
5: 125,465,095 (GRCm39) |
M77I |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,225,933 (GRCm39) |
D659G |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,656,253 (GRCm39) |
C821S |
probably damaging |
Het |
| Whamm |
T |
A |
7: 81,224,295 (GRCm39) |
V197D |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,006,101 (GRCm39) |
F431S |
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 |
|
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 |
|
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'- TCTGAGTACTCACTATATGGCCTTTG -3'
(R):5'- GTCACATAATCAAGCTCTTTGGG -3'
Sequencing Primer
(F):5'- GTACTCACTATATGGCCTTTGTTTTC -3'
(R):5'- GGTACTCACCTTCAGTACTGGAGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation