Incidental Mutation 'R7520:Adamts6'
ID |
582643 |
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 |
045592-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.831)
|
Stock # |
R7520 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104433694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 41
(H41R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064570
(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: H41R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000064570 Gene: ENSMUSG00000046169 AA Change: H41R
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
AA Change: H41R
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224208
AA Change: H41R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224303
AA Change: H41R
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224742
AA Change: H41R
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
AA Change: H41R
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
C |
4: 144,281,859 (GRCm39) |
Y311C |
probably damaging |
Het |
Abca1 |
A |
T |
4: 53,078,114 (GRCm39) |
I886N |
probably benign |
Het |
Adck1 |
T |
C |
12: 88,425,975 (GRCm39) |
|
probably null |
Het |
Atat1 |
G |
T |
17: 36,208,706 (GRCm39) |
T398K |
probably benign |
Het |
Bahcc1 |
A |
G |
11: 120,167,031 (GRCm39) |
E1144G |
possibly damaging |
Het |
Cand2 |
G |
T |
6: 115,762,212 (GRCm39) |
E213* |
probably null |
Het |
Cep350 |
A |
G |
1: 155,791,375 (GRCm39) |
S1250P |
probably benign |
Het |
Cln3 |
A |
G |
7: 126,180,852 (GRCm39) |
L63P |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,484,808 (GRCm39) |
C486* |
probably null |
Het |
Ctnnal1 |
A |
T |
4: 56,837,838 (GRCm39) |
M264K |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,812,008 (GRCm39) |
D738V |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,104,887 (GRCm39) |
M1901V |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,345,255 (GRCm39) |
T2200A |
probably benign |
Het |
Dolk |
A |
G |
2: 30,174,555 (GRCm39) |
Y497H |
probably benign |
Het |
Drd5 |
T |
C |
5: 38,478,195 (GRCm39) |
V396A |
probably benign |
Het |
Epsti1 |
A |
T |
14: 78,200,883 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
G |
3: 154,468,763 (GRCm39) |
T1072A |
unknown |
Het |
Ero1a |
A |
T |
14: 45,544,032 (GRCm39) |
N57K |
probably damaging |
Het |
Exph5 |
T |
C |
9: 53,278,514 (GRCm39) |
|
probably null |
Het |
Frmd5 |
C |
T |
2: 121,384,745 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
A |
G |
17: 35,661,686 (GRCm39) |
T310A |
probably benign |
Het |
Hecw2 |
G |
T |
1: 53,965,215 (GRCm39) |
A537E |
probably benign |
Het |
Itga4 |
A |
T |
2: 79,131,333 (GRCm39) |
D567V |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,375,368 (GRCm39) |
N361Y |
probably damaging |
Het |
Keap1 |
A |
G |
9: 21,144,787 (GRCm39) |
S408P |
probably benign |
Het |
Mamdc4 |
T |
A |
2: 25,455,360 (GRCm39) |
I928F |
possibly damaging |
Het |
Mboat4 |
T |
C |
8: 34,591,028 (GRCm39) |
F155S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,440,742 (GRCm39) |
|
probably benign |
Het |
Nmi |
T |
G |
2: 51,842,492 (GRCm39) |
K200T |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,331 (GRCm39) |
C223Y |
probably benign |
Het |
Or8g19 |
G |
T |
9: 39,055,414 (GRCm39) |
R6L |
probably benign |
Het |
Pcdha7 |
G |
A |
18: 37,108,366 (GRCm39) |
V464M |
probably damaging |
Het |
Peg10 |
T |
A |
6: 4,756,796 (GRCm39) |
N457K |
unknown |
Het |
Plekha7 |
A |
T |
7: 115,736,519 (GRCm39) |
I944N |
possibly damaging |
Het |
Plpp1 |
T |
A |
13: 112,937,781 (GRCm39) |
D13E |
possibly damaging |
Het |
Pnpla6 |
G |
T |
8: 3,587,508 (GRCm39) |
V1070F |
probably damaging |
Het |
Riox1 |
T |
A |
12: 83,998,545 (GRCm39) |
Y360* |
probably null |
Het |
Sdhb |
A |
G |
4: 140,693,882 (GRCm39) |
D50G |
possibly damaging |
Het |
Slc35f2 |
T |
A |
9: 53,708,385 (GRCm39) |
V126D |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,148,575 (GRCm39) |
V612A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,702 (GRCm39) |
I46F |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Taar7b |
T |
C |
10: 23,876,381 (GRCm39) |
L182P |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,776,542 (GRCm39) |
M606L |
probably damaging |
Het |
Trpm8 |
T |
A |
1: 88,271,043 (GRCm39) |
D444E |
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,711,797 (GRCm39) |
T405A |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,946,245 (GRCm39) |
W492R |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,728,123 (GRCm39) |
T5566S |
unknown |
Het |
Utp20 |
A |
T |
10: 88,654,457 (GRCm39) |
M210K |
probably damaging |
Het |
Zfand1 |
A |
G |
3: 10,411,009 (GRCm39) |
V115A |
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 |
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'- GGAAAGAAGACTAGTCCCTCAC -3'
(R):5'- TAGGTGAAAGTGCTTGCCATAGG -3'
Sequencing Primer
(F):5'- CACTCACACCTTGCATAGA -3'
(R):5'- AAGGTCCATACTCCGTCT -3'
|
Posted On |
2019-10-17 |