Incidental Mutation 'R1619:Adamts6'
ID |
174561 |
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 |
039656-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.847)
|
Stock # |
R1619 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 104449285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 36
(P36S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224504]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
AlphaFold |
D3Z1A5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065766
AA Change: P232S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000064570 Gene: ENSMUSG00000046169 AA Change: P232S
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: P232S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224208
AA Change: P232S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
AA Change: P232S
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224504
AA Change: P36S
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
AA Change: P232S
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
AA Change: P232S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
T |
10: 79,844,889 (GRCm39) |
H1537L |
probably damaging |
Het |
Actg2 |
T |
A |
6: 83,500,169 (GRCm39) |
N116I |
probably damaging |
Het |
Actn1 |
G |
A |
12: 80,219,796 (GRCm39) |
H692Y |
probably damaging |
Het |
Agr3 |
G |
A |
12: 35,997,858 (GRCm39) |
|
probably null |
Het |
Ank3 |
T |
C |
10: 69,715,805 (GRCm39) |
V500A |
probably damaging |
Het |
BC051019 |
T |
A |
7: 109,317,269 (GRCm39) |
D141V |
probably damaging |
Het |
Bco1 |
T |
C |
8: 117,835,454 (GRCm39) |
F135S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Ccdc42 |
A |
G |
11: 68,485,115 (GRCm39) |
K210E |
probably damaging |
Het |
Cckar |
A |
T |
5: 53,857,409 (GRCm39) |
W263R |
probably damaging |
Het |
Cela2a |
A |
G |
4: 141,553,252 (GRCm39) |
|
probably null |
Het |
Cep97 |
A |
T |
16: 55,748,159 (GRCm39) |
N90K |
probably damaging |
Het |
Ces2g |
A |
T |
8: 105,693,984 (GRCm39) |
Q440L |
probably damaging |
Het |
Chchd6 |
G |
T |
6: 89,396,736 (GRCm39) |
T225K |
possibly damaging |
Het |
Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
Chrna5 |
A |
G |
9: 54,911,649 (GRCm39) |
T46A |
probably benign |
Het |
Col16a1 |
G |
A |
4: 129,992,733 (GRCm39) |
G1531S |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,573,172 (GRCm39) |
V200E |
unknown |
Het |
Csf2rb |
A |
G |
15: 78,219,411 (GRCm39) |
D2G |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,813,346 (GRCm39) |
S1062L |
probably damaging |
Het |
Cul5 |
G |
T |
9: 53,569,893 (GRCm39) |
Q113K |
probably benign |
Het |
Dmwd |
TAGCCTGGGAA |
TAGCCTGGGAAGCCTGGGAA |
7: 18,814,959 (GRCm39) |
|
probably benign |
Het |
Dse |
T |
C |
10: 34,029,230 (GRCm39) |
D620G |
probably damaging |
Het |
Dsg1c |
A |
G |
18: 20,397,899 (GRCm39) |
N33S |
probably benign |
Het |
Epc2 |
G |
A |
2: 49,439,990 (GRCm39) |
V803I |
probably damaging |
Het |
Erap1 |
T |
A |
13: 74,819,500 (GRCm39) |
H171Q |
probably damaging |
Het |
Esrrb |
T |
C |
12: 86,561,274 (GRCm39) |
V336A |
possibly damaging |
Het |
Fech |
A |
T |
18: 64,595,189 (GRCm39) |
W300R |
probably damaging |
Het |
Fgd4 |
T |
C |
16: 16,241,920 (GRCm39) |
I635V |
possibly damaging |
Het |
Galc |
A |
T |
12: 98,200,563 (GRCm39) |
N282K |
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,270,637 (GRCm39) |
Y95C |
probably benign |
Het |
Grm2 |
T |
A |
9: 106,524,670 (GRCm39) |
I682F |
probably damaging |
Het |
Hdac10 |
G |
T |
15: 89,010,878 (GRCm39) |
A241D |
probably damaging |
Het |
Helz |
T |
A |
11: 107,527,105 (GRCm39) |
C182* |
probably null |
Het |
Ift140 |
A |
G |
17: 25,307,839 (GRCm39) |
Y978C |
probably damaging |
Het |
Intu |
T |
A |
3: 40,652,061 (GRCm39) |
C839* |
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,055,654 (GRCm39) |
V358A |
probably benign |
Het |
Kif26b |
A |
G |
1: 178,744,043 (GRCm39) |
S1380G |
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,587,601 (GRCm39) |
S116P |
unknown |
Het |
Lrrc2 |
T |
A |
9: 110,790,041 (GRCm39) |
S99R |
probably benign |
Het |
Mrpl48 |
G |
A |
7: 100,195,482 (GRCm39) |
|
probably benign |
Het |
Mup9 |
A |
G |
4: 60,377,878 (GRCm39) |
|
probably benign |
Het |
Nap1l1 |
G |
A |
10: 111,329,240 (GRCm39) |
V285I |
possibly damaging |
Het |
Nepro |
A |
G |
16: 44,547,391 (GRCm39) |
D36G |
probably benign |
Het |
Nkain4 |
A |
G |
2: 180,577,794 (GRCm39) |
F187L |
probably damaging |
Het |
Nobox |
A |
T |
6: 43,284,401 (GRCm39) |
C82S |
possibly damaging |
Het |
Ntn4 |
C |
A |
10: 93,480,596 (GRCm39) |
Q70K |
probably damaging |
Het |
Or13j1 |
A |
G |
4: 43,706,292 (GRCm39) |
I92T |
probably damaging |
Het |
Or1e26 |
A |
T |
11: 73,480,118 (GRCm39) |
W149R |
probably damaging |
Het |
Or4k37 |
A |
G |
2: 111,159,306 (GRCm39) |
I181V |
probably benign |
Het |
Or51a43 |
T |
C |
7: 103,717,738 (GRCm39) |
R167G |
probably damaging |
Het |
Or5b122 |
T |
A |
19: 13,562,978 (GRCm39) |
F103L |
probably benign |
Het |
Or9r3 |
A |
G |
10: 129,948,548 (GRCm39) |
I37T |
possibly damaging |
Het |
Pappa |
A |
G |
4: 65,094,466 (GRCm39) |
E497G |
probably damaging |
Het |
Pard3 |
C |
A |
8: 128,106,983 (GRCm39) |
T569K |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,334,747 (GRCm39) |
N354D |
possibly damaging |
Het |
Pdgfc |
T |
C |
3: 81,082,194 (GRCm39) |
V129A |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Phf20l1 |
A |
T |
15: 66,487,108 (GRCm39) |
H407L |
possibly damaging |
Het |
Phip |
A |
T |
9: 82,753,502 (GRCm39) |
D1747E |
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,900,413 (GRCm39) |
S43P |
probably damaging |
Het |
Plekhg2 |
T |
C |
7: 28,067,846 (GRCm39) |
E202G |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,873,504 (GRCm39) |
D270G |
possibly damaging |
Het |
Rims2 |
A |
C |
15: 39,370,382 (GRCm39) |
S939R |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,822,765 (GRCm39) |
D932G |
probably damaging |
Het |
Rtp2 |
A |
T |
16: 23,749,421 (GRCm39) |
W30R |
probably damaging |
Het |
Scgb2b27 |
A |
T |
7: 33,711,557 (GRCm39) |
D97E |
probably benign |
Het |
Slc25a46 |
T |
C |
18: 31,716,542 (GRCm39) |
N320S |
probably benign |
Het |
Slc9b1 |
A |
G |
3: 135,060,765 (GRCm39) |
|
probably null |
Het |
Socs4 |
T |
A |
14: 47,527,740 (GRCm39) |
M225K |
possibly damaging |
Het |
Spata31d1a |
A |
T |
13: 59,850,247 (GRCm39) |
L627* |
probably null |
Het |
Srcin1 |
A |
G |
11: 97,416,307 (GRCm39) |
L975P |
probably damaging |
Het |
Stard3 |
T |
A |
11: 98,267,435 (GRCm39) |
|
probably null |
Het |
Susd2 |
G |
T |
10: 75,473,878 (GRCm39) |
S572R |
possibly damaging |
Het |
Tll1 |
C |
A |
8: 64,509,307 (GRCm39) |
A568S |
probably benign |
Het |
Tmem132a |
C |
G |
19: 10,839,062 (GRCm39) |
G460A |
probably damaging |
Het |
Trim62 |
A |
G |
4: 128,803,281 (GRCm39) |
K444E |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,689,271 (GRCm39) |
T67A |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,784,454 (GRCm39) |
M1841T |
possibly damaging |
Het |
Ulk2 |
A |
T |
11: 61,672,572 (GRCm39) |
V922D |
probably damaging |
Het |
Vmn2r38 |
C |
A |
7: 9,078,532 (GRCm39) |
V617L |
probably damaging |
Het |
Xkr6 |
G |
A |
14: 64,056,766 (GRCm39) |
V226M |
probably benign |
Het |
Zfp940 |
G |
A |
7: 29,544,962 (GRCm39) |
A315V |
possibly damaging |
Het |
Zfr |
C |
A |
15: 12,150,473 (GRCm39) |
T480K |
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 |
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'- accagagcccTCTAACTAAGGCATT -3'
(R):5'- GCAAATTGTAGACTCAATCCCAAGCAGA -3'
Sequencing Primer
(F):5'- GCTGCTTTTTCACATGAGGAATAG -3'
(R):5'- CTACCTTAATATAAAACACAG -3'
|
Posted On |
2014-04-24 |