Incidental Mutation 'R1502:Adamts6'
| ID |
169393 |
| 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 |
039552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
R1502 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104630145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1096
(L1096P)
|
| 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: L1096P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: L1096P
| 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: L1096P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
G |
11: 109,865,471 (GRCm39) |
T329P |
probably damaging |
Het |
| Adamts4 |
C |
A |
1: 171,086,559 (GRCm39) |
P784T |
probably damaging |
Het |
| Ap1b1 |
A |
G |
11: 4,990,290 (GRCm39) |
S849G |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,761,747 (GRCm39) |
S1660G |
probably benign |
Het |
| Atp10b |
A |
C |
11: 43,121,174 (GRCm39) |
T946P |
probably damaging |
Het |
| Brpf1 |
A |
G |
6: 113,299,381 (GRCm39) |
D1103G |
probably damaging |
Het |
| Bub1 |
A |
G |
2: 127,669,339 (GRCm39) |
Y102H |
probably damaging |
Het |
| Ccdc182 |
A |
G |
11: 88,185,193 (GRCm39) |
E91G |
probably benign |
Het |
| Cd200r4 |
C |
T |
16: 44,653,803 (GRCm39) |
T154M |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,881,755 (GRCm39) |
T407A |
probably benign |
Het |
| Col6a2 |
T |
C |
10: 76,450,512 (GRCm39) |
I140V |
probably benign |
Het |
| Csn3 |
C |
A |
5: 88,077,983 (GRCm39) |
T163K |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 160,874,375 (GRCm39) |
L438* |
probably null |
Het |
| Dbr1 |
T |
C |
9: 99,464,440 (GRCm39) |
L289P |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,811,122 (GRCm39) |
R573G |
possibly damaging |
Het |
| Defb10 |
T |
C |
8: 22,348,972 (GRCm39) |
I10T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,233,069 (GRCm39) |
E136G |
possibly damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,668 (GRCm39) |
Q136R |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,214 (GRCm39) |
S625R |
probably damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,209 (GRCm39) |
D94G |
probably damaging |
Het |
| Dynlt2a2 |
A |
G |
17: 15,187,876 (GRCm39) |
F133L |
probably benign |
Het |
| E130311K13Rik |
A |
C |
3: 63,822,968 (GRCm39) |
Y225* |
probably null |
Het |
| Etnppl |
A |
G |
3: 130,422,438 (GRCm39) |
I222V |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,550,440 (GRCm39) |
L818P |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,205,626 (GRCm39) |
C1083* |
probably null |
Het |
| Flnc |
G |
A |
6: 29,438,693 (GRCm39) |
V196I |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,435,622 (GRCm39) |
D415G |
probably benign |
Het |
| Gm4861 |
A |
C |
3: 137,256,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,155,399 (GRCm39) |
T345S |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,432,169 (GRCm39) |
S943G |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,502,743 (GRCm39) |
R460Q |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,556,872 (GRCm39) |
L629R |
possibly damaging |
Het |
| Ift52 |
G |
A |
2: 162,871,782 (GRCm39) |
|
probably null |
Het |
| Insl3 |
A |
G |
8: 72,142,876 (GRCm39) |
D79G |
probably damaging |
Het |
| Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
| Lag3 |
T |
C |
6: 124,886,206 (GRCm39) |
Y249C |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,097,572 (GRCm39) |
N124D |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,791,906 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,294,235 (GRCm39) |
Y299H |
probably benign |
Het |
| Lypd4 |
T |
C |
7: 24,566,253 (GRCm39) |
T24A |
probably benign |
Het |
| Magi1 |
T |
A |
6: 93,671,151 (GRCm39) |
I805F |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,418,975 (GRCm39) |
L45P |
probably benign |
Het |
| Nbea |
G |
A |
3: 55,912,310 (GRCm39) |
P1159L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,231,407 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,374,335 (GRCm39) |
N229K |
possibly damaging |
Het |
| Nova1 |
A |
G |
12: 46,767,615 (GRCm39) |
I102T |
unknown |
Het |
| Npepps |
T |
C |
11: 97,109,401 (GRCm39) |
E725G |
possibly damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,234 (GRCm39) |
M122L |
possibly damaging |
Het |
| Or13a1 |
T |
C |
6: 116,471,242 (GRCm39) |
I224T |
probably damaging |
Het |
| Or5l14 |
T |
C |
2: 87,792,379 (GRCm39) |
N286D |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,910,741 (GRCm39) |
I154T |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,784,858 (GRCm39) |
W51R |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,942,007 (GRCm39) |
S149P |
probably damaging |
Het |
| Pgap6 |
A |
G |
17: 26,339,290 (GRCm39) |
T535A |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,785,968 (GRCm39) |
L1052Q |
possibly damaging |
Het |
| Pou5f2 |
T |
A |
13: 78,173,370 (GRCm39) |
L104Q |
probably benign |
Het |
| Pramel32 |
T |
A |
4: 88,546,269 (GRCm39) |
I358F |
probably benign |
Het |
| Psme2b |
A |
T |
11: 48,836,576 (GRCm39) |
W124R |
probably damaging |
Het |
| Ptk2b |
G |
A |
14: 66,400,529 (GRCm39) |
S762L |
possibly damaging |
Het |
| Ptprs |
T |
C |
17: 56,744,992 (GRCm39) |
N248S |
probably benign |
Het |
| Rgs22 |
G |
A |
15: 36,080,997 (GRCm39) |
T705I |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,945,709 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
A |
T |
2: 140,231,515 (GRCm39) |
I13N |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,500,793 (GRCm39) |
T57A |
probably benign |
Het |
| Smpdl3a |
T |
G |
10: 57,685,187 (GRCm39) |
V319G |
probably damaging |
Het |
| Syt9 |
T |
C |
7: 107,035,694 (GRCm39) |
L237P |
probably damaging |
Het |
| Tbc1d16 |
G |
T |
11: 119,044,830 (GRCm39) |
A536E |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,777 (GRCm39) |
D558G |
probably damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,453 (GRCm39) |
M173K |
probably benign |
Het |
| Tek |
A |
G |
4: 94,669,339 (GRCm39) |
I113M |
probably damaging |
Het |
| Tmem50a |
A |
T |
4: 134,636,980 (GRCm39) |
D50E |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,983,862 (GRCm39) |
V10E |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,681 (GRCm39) |
R189* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,578,015 (GRCm39) |
D174E |
possibly damaging |
Het |
| Zc3h10 |
A |
T |
10: 128,380,151 (GRCm39) |
M402K |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,588 (GRCm39) |
H615R |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,126 (GRCm39) |
H161P |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,917,992 (GRCm39) |
F85L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATTCTTTCAAGACACAGTGGGC -3'
(R):5'- AGGACATCCATCCACTTCCTCTGG -3'
Sequencing Primer
(F):5'- CCAAAAGAATGTTTCTGGTAGGCTG -3'
(R):5'- CACTTCCTCTGGGTGGTTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation