Incidental Mutation 'R0799:Adamts6'
| ID |
76542 |
| 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 |
038979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
R0799 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104450779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 321
(S321P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224504]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065766
AA Change: S321P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: S321P
| 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: ENSMUST00000223562
AA Change: S321P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224208
AA Change: S321P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224784
AA Change: S321P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5033 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
G |
A |
4: 103,100,101 (GRCm39) |
T33I |
possibly damaging |
Het |
| 4930555F03Rik |
A |
G |
8: 49,948,474 (GRCm39) |
|
noncoding transcript |
Het |
| Abcf3 |
T |
C |
16: 20,378,084 (GRCm39) |
L538P |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,602,523 (GRCm39) |
R362H |
probably damaging |
Het |
| AI597479 |
T |
G |
1: 43,150,330 (GRCm39) |
S147A |
probably benign |
Het |
| Ajm1 |
A |
G |
2: 25,468,574 (GRCm39) |
S446P |
possibly damaging |
Het |
| Ampd3 |
T |
C |
7: 110,399,904 (GRCm39) |
F340L |
probably damaging |
Het |
| Atad3a |
A |
G |
4: 155,831,927 (GRCm39) |
V449A |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,724,751 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,834,192 (GRCm39) |
D328V |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,483,658 (GRCm39) |
S2903P |
probably damaging |
Het |
| Cct3 |
A |
T |
3: 88,206,652 (GRCm39) |
|
probably null |
Het |
| Cdk4 |
A |
G |
10: 126,900,863 (GRCm39) |
T172A |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,468,616 (GRCm39) |
D1760G |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,801,310 (GRCm39) |
|
probably benign |
Het |
| Crybb2 |
T |
C |
5: 113,210,037 (GRCm39) |
I109V |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,048,780 (GRCm39) |
|
probably benign |
Het |
| Dach1 |
G |
T |
14: 98,406,051 (GRCm39) |
T232K |
possibly damaging |
Het |
| Dnlz |
A |
G |
2: 26,241,485 (GRCm39) |
V81A |
possibly damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
| Eps15l1 |
C |
T |
8: 73,099,929 (GRCm39) |
D821N |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,839,893 (GRCm39) |
P2117L |
probably damaging |
Het |
| Fam83d |
T |
A |
2: 158,621,808 (GRCm39) |
F173Y |
probably damaging |
Het |
| Gm9116 |
A |
T |
3: 93,817,772 (GRCm39) |
R214S |
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,600,401 (GRCm39) |
I445V |
probably damaging |
Het |
| H2-M2 |
G |
A |
17: 37,793,640 (GRCm39) |
T122I |
probably damaging |
Het |
| Hgd |
C |
T |
16: 37,448,971 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,135,004 (GRCm39) |
Y380C |
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,715,137 (GRCm39) |
G389R |
probably damaging |
Het |
| Htt |
C |
A |
5: 34,975,097 (GRCm39) |
D622E |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kdm4a |
A |
G |
4: 118,004,189 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
G |
A |
12: 81,769,043 (GRCm39) |
P1025S |
probably benign |
Het |
| Or8b47 |
G |
A |
9: 38,435,437 (GRCm39) |
M136I |
probably benign |
Het |
| Pabpc1l |
C |
A |
2: 163,873,134 (GRCm39) |
H135N |
probably benign |
Het |
| Pacsin2 |
A |
T |
15: 83,263,998 (GRCm39) |
S346R |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,938 (GRCm39) |
Y488C |
probably damaging |
Het |
| Pkdcc |
G |
A |
17: 83,531,347 (GRCm39) |
C452Y |
probably damaging |
Het |
| Poglut1 |
T |
C |
16: 38,355,083 (GRCm39) |
|
probably null |
Het |
| Prss59 |
A |
G |
6: 40,905,533 (GRCm39) |
M41T |
probably damaging |
Het |
| Pxk |
T |
C |
14: 8,148,123 (GRCm38) |
F409L |
probably benign |
Het |
| Pygm |
G |
A |
19: 6,436,048 (GRCm39) |
|
probably benign |
Het |
| Rabep2 |
T |
C |
7: 126,037,896 (GRCm39) |
S223P |
probably damaging |
Het |
| Rpp40 |
C |
T |
13: 36,086,034 (GRCm39) |
R109H |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,940,562 (GRCm39) |
Y1266C |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,012,368 (GRCm39) |
V346A |
probably benign |
Het |
| Smpd3 |
G |
T |
8: 106,991,421 (GRCm39) |
H377Q |
possibly damaging |
Het |
| Sppl2a |
C |
A |
2: 126,762,227 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,385 (GRCm39) |
I288T |
probably benign |
Het |
| Trim35 |
T |
A |
14: 66,546,650 (GRCm39) |
H472Q |
probably damaging |
Het |
| Trpm5 |
C |
A |
7: 142,632,088 (GRCm39) |
R907L |
probably damaging |
Het |
| Ube2e2 |
G |
T |
14: 18,630,393 (GRCm38) |
S56* |
probably null |
Het |
| Vmn2r88 |
A |
C |
14: 51,651,959 (GRCm39) |
R432S |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,102 (GRCm39) |
Y279C |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,871,818 (GRCm39) |
N385K |
probably benign |
Het |
| Zfp28 |
T |
A |
7: 6,387,182 (GRCm39) |
S73T |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,314,271 (GRCm39) |
E422G |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,684,709 (GRCm39) |
E26G |
probably benign |
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 |
|
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 |
|
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'- GGAAGTGCAAGGAAAGTCTGTTCAGTAA -3'
(R):5'- AATGCACAACGAATCTCCTCTTCCC -3'
Sequencing Primer
(F):5'- GTCAGATGTTCTGGAGATAAAAATCG -3'
(R):5'- CCCTTATTACCTGAAAGAGGTGTAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation