Incidental Mutation 'R5753:Adamts6'
| ID |
499959 |
| 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 |
043358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
R5753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104483858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 359
(Y359C)
|
| 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: Y359C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: Y359C
| 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: Y359C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224208
AA Change: Y359C
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: Y359C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1553 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (58/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,120,374 (GRCm39) |
T377I |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,773,160 (GRCm39) |
D796G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,595 (GRCm39) |
|
probably null |
Het |
| Ada |
A |
T |
2: 163,577,318 (GRCm39) |
S57T |
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,080,300 (GRCm39) |
I348F |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,622,043 (GRCm39) |
E603G |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,712,910 (GRCm39) |
|
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,181,871 (GRCm39) |
V113L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,872,037 (GRCm39) |
T540A |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,896,875 (GRCm39) |
F109S |
probably damaging |
Het |
| F13a1 |
G |
A |
13: 37,082,082 (GRCm39) |
Q541* |
probably null |
Het |
| Fam124a |
T |
C |
14: 62,843,988 (GRCm39) |
S499P |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,428,416 (GRCm39) |
E486V |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,433,488 (GRCm39) |
S11P |
probably benign |
Het |
| Gm12508 |
C |
A |
4: 55,254,787 (GRCm39) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,439,837 (GRCm39) |
M131T |
probably damaging |
Het |
| H4c4 |
G |
A |
13: 23,765,587 (GRCm39) |
M1I |
probably null |
Het |
| Itpripl2 |
A |
G |
7: 118,090,232 (GRCm39) |
V109A |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,692,181 (GRCm39) |
E585G |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,404 (GRCm39) |
I593F |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 109,832,857 (GRCm39) |
Q316* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,049,993 (GRCm39) |
F305S |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or4c3 |
T |
C |
2: 89,851,847 (GRCm39) |
T188A |
possibly damaging |
Het |
| Or4k51 |
T |
A |
2: 111,585,146 (GRCm39) |
I184K |
possibly damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,045 (GRCm39) |
T285S |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,408 (GRCm39) |
L178P |
probably damaging |
Het |
| Or5d18 |
G |
A |
2: 87,864,920 (GRCm39) |
L188F |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,596 (GRCm39) |
M288L |
probably benign |
Het |
| Or7a40 |
A |
T |
16: 16,491,484 (GRCm39) |
Y120* |
probably null |
Het |
| Pcdh9 |
T |
A |
14: 94,125,597 (GRCm39) |
D191V |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 109,909,256 (GRCm39) |
|
probably benign |
Het |
| Phkb |
C |
T |
8: 86,604,859 (GRCm39) |
A88V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,620 (GRCm39) |
S4128P |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,482,730 (GRCm39) |
|
probably null |
Het |
| Rgs13 |
A |
C |
1: 144,016,478 (GRCm39) |
N88K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,448 (GRCm39) |
I104N |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,637,138 (GRCm39) |
|
probably benign |
Het |
| Saxo5 |
A |
T |
8: 3,534,112 (GRCm39) |
I350L |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,251,928 (GRCm39) |
|
probably null |
Het |
| Slc39a7 |
C |
T |
17: 34,249,150 (GRCm39) |
R246K |
probably damaging |
Het |
| Sort1 |
G |
C |
3: 108,253,090 (GRCm39) |
G510A |
probably damaging |
Het |
| Spag6l |
A |
G |
16: 16,584,831 (GRCm39) |
|
probably null |
Het |
| Sync |
T |
A |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
| Timm8a2 |
T |
C |
14: 122,272,289 (GRCm39) |
V64A |
probably benign |
Het |
| Tnfrsf11b |
C |
A |
15: 54,117,455 (GRCm39) |
V267L |
possibly damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,544 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tusc3 |
T |
C |
8: 39,564,100 (GRCm39) |
S244P |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,279,787 (GRCm39) |
Y746N |
probably damaging |
Het |
| Vax1 |
G |
T |
19: 59,154,814 (GRCm39) |
H274Q |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,179 (GRCm39) |
V675A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,670 (GRCm39) |
W298R |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,156 (GRCm39) |
N116S |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,923 (GRCm39) |
V678A |
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 |
|
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 |
|
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'- AGCTGTTGCATGCAGTCTG -3'
(R):5'- TCATACCATTTGCCAGGGAAC -3'
Sequencing Primer
(F):5'- AGTCTGCCTTTCTGCATGG -3'
(R):5'- GAAAGATCATGTCTCGTACATCAG -3'
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| Posted On |
2017-11-30 |
Incidental Mutation