Incidental Mutation 'R5403:Adamts6'
| ID |
430131 |
| 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 |
042974-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
R5403 (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 104489323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 392
(D392G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224504]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065766
AA Change: D392G
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: D392G
| 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 |
possibly damaging
Transcript: ENSMUST00000223562
AA Change: D392G
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224208
AA Change: D392G
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224784
AA Change: D392G
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
| Alkbh8 |
A |
G |
9: 3,385,318 (GRCm39) |
K537E |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
| Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
| Bpifb4 |
A |
T |
2: 153,785,912 (GRCm39) |
I17F |
probably damaging |
Het |
| Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
| Ccdc88b |
T |
A |
19: 6,835,108 (GRCm39) |
T38S |
unknown |
Het |
| Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
| Cdr2 |
G |
A |
7: 120,557,968 (GRCm39) |
Q186* |
probably null |
Het |
| Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 64,909,792 (GRCm39) |
T771I |
possibly damaging |
Het |
| Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
| Ddx50 |
A |
G |
10: 62,482,809 (GRCm39) |
S87P |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,112 (GRCm39) |
S213P |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,080,210 (GRCm39) |
T598A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,595,933 (GRCm39) |
D919E |
probably damaging |
Het |
| Fndc9 |
C |
T |
11: 46,128,541 (GRCm39) |
S20L |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,501,813 (GRCm39) |
E145G |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,947,446 (GRCm39) |
Y23H |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
| Jmy |
G |
T |
13: 93,577,904 (GRCm39) |
Q755K |
probably benign |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,540 (GRCm39) |
S108T |
unknown |
Het |
| Mgat5b |
T |
G |
11: 116,839,483 (GRCm39) |
I333S |
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,218,877 (GRCm39) |
T519A |
probably damaging |
Het |
| Naip6 |
G |
A |
13: 100,436,585 (GRCm39) |
A646V |
probably benign |
Het |
| Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
| Or8g22 |
G |
T |
9: 38,957,999 (GRCm39) |
P239T |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,644,617 (GRCm39) |
M1210L |
probably benign |
Het |
| Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
| Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,586,108 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
C |
A |
11: 121,451,569 (GRCm39) |
N546K |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,538,034 (GRCm39) |
D1832G |
probably damaging |
Het |
| Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
| Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
| Ube2o |
A |
T |
11: 116,439,633 (GRCm39) |
I179N |
possibly damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,441 (GRCm39) |
I234V |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,365,262 (GRCm39) |
T382A |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,744 (GRCm39) |
K605E |
possibly damaging |
Het |
| Zmynd10 |
T |
A |
9: 107,427,785 (GRCm39) |
L363H |
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 |
|
R5234:Adamts6
|
UTSW |
13 |
104,630,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCCAGTGATTTTGCAAACGACTAG -3'
(R):5'- TTGGATTTACCCCAACACCC -3'
Sequencing Primer
(F):5'- GAAAGTTAACCTTTTGCCAACTGCTC -3'
(R):5'- CCAACACCCAAAATTATAACAGTCTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation