Incidental Mutation 'R9213:Adamts6'
ID |
699023 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.831)
|
Stock # |
R9213 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104581440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 852
(C852S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064570
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
AlphaFold |
D3Z1A5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065766
AA Change: C852S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064570 Gene: ENSMUSG00000046169 AA Change: C852S
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
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224208
AA Change: C852S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224784
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arf1 |
A |
G |
11: 59,104,186 (GRCm39) |
V43A |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,340,000 (GRCm39) |
M674K |
probably benign |
Het |
Asb1 |
A |
C |
1: 91,482,531 (GRCm39) |
K314N |
probably damaging |
Het |
Aste1 |
T |
C |
9: 105,274,294 (GRCm39) |
F178S |
probably damaging |
Het |
Avl9 |
T |
C |
6: 56,720,441 (GRCm39) |
F493S |
probably damaging |
Het |
BC024139 |
T |
C |
15: 76,009,422 (GRCm39) |
Y220C |
probably benign |
Het |
Ccdc60 |
T |
C |
5: 116,328,185 (GRCm39) |
E93G |
probably damaging |
Het |
Cep112 |
A |
G |
11: 108,377,779 (GRCm39) |
H295R |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,255,628 (GRCm39) |
K87E |
possibly damaging |
Het |
Chordc1 |
G |
T |
9: 18,223,789 (GRCm39) |
|
probably null |
Het |
Ciita |
A |
T |
16: 10,319,742 (GRCm39) |
D55V |
probably damaging |
Het |
Cklf |
T |
C |
8: 104,988,125 (GRCm39) |
V86A |
probably damaging |
Het |
Clock |
T |
A |
5: 76,393,376 (GRCm39) |
N189I |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,444,205 (GRCm39) |
|
probably null |
Het |
Dpep3 |
C |
G |
8: 106,700,245 (GRCm39) |
C487S |
probably benign |
Het |
Dtwd2 |
A |
G |
18: 49,856,799 (GRCm39) |
F163L |
probably benign |
Het |
Eln |
C |
T |
5: 134,735,456 (GRCm39) |
V776M |
unknown |
Het |
Fanci |
T |
A |
7: 79,055,971 (GRCm39) |
M201K |
possibly damaging |
Het |
Frmd4a |
A |
G |
2: 4,608,372 (GRCm39) |
T747A |
probably damaging |
Het |
Galnt9 |
T |
A |
5: 110,767,108 (GRCm39) |
C526* |
probably null |
Het |
Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
Gdpd5 |
T |
C |
7: 99,100,945 (GRCm39) |
S247P |
probably damaging |
Het |
Gm4846 |
C |
T |
1: 166,322,142 (GRCm39) |
D142N |
probably damaging |
Het |
Kbtbd2 |
T |
A |
6: 56,756,917 (GRCm39) |
E273V |
probably damaging |
Het |
Klk1b11 |
A |
G |
7: 43,648,428 (GRCm39) |
E145G |
possibly damaging |
Het |
Mmp1a |
G |
T |
9: 7,475,364 (GRCm39) |
V378F |
possibly damaging |
Het |
Mon2 |
G |
T |
10: 122,872,016 (GRCm39) |
S336* |
probably null |
Het |
Mrgprh |
T |
A |
17: 13,095,917 (GRCm39) |
N52K |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,772,922 (GRCm39) |
F985L |
probably benign |
Het |
Nek3 |
T |
C |
8: 22,638,677 (GRCm39) |
N207S |
probably benign |
Het |
Nkpd1 |
A |
G |
7: 19,258,009 (GRCm39) |
D596G |
probably damaging |
Het |
Oc90 |
C |
A |
15: 65,761,557 (GRCm39) |
E154* |
probably null |
Het |
Or8b101 |
T |
A |
9: 38,020,426 (GRCm39) |
M143K |
possibly damaging |
Het |
Or8b3 |
C |
A |
9: 38,315,047 (GRCm39) |
Y292* |
probably null |
Het |
Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,358,874 (GRCm39) |
Y361C |
probably damaging |
Het |
Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
Potefam1 |
T |
A |
2: 111,020,699 (GRCm39) |
R136S |
unknown |
Het |
Ppp1r26 |
A |
G |
2: 28,343,649 (GRCm39) |
N1093S |
probably benign |
Het |
Prex1 |
G |
T |
2: 166,417,669 (GRCm39) |
R1313S |
probably damaging |
Het |
Ptprh |
A |
T |
7: 4,583,911 (GRCm39) |
V227E |
probably damaging |
Het |
Pycr2 |
A |
G |
1: 180,733,473 (GRCm39) |
D58G |
probably benign |
Het |
Rad54b |
G |
T |
4: 11,609,321 (GRCm39) |
E591* |
probably null |
Het |
Rptor |
T |
C |
11: 119,494,765 (GRCm39) |
S44P |
probably benign |
Het |
Safb2 |
T |
A |
17: 56,882,602 (GRCm39) |
T344S |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,856 (GRCm39) |
E135G |
probably benign |
Het |
Sec23a |
A |
T |
12: 59,048,708 (GRCm39) |
I167N |
probably damaging |
Het |
Shoc2 |
C |
T |
19: 54,016,231 (GRCm39) |
T415I |
probably benign |
Het |
Sobp |
T |
C |
10: 42,898,374 (GRCm39) |
I404V |
probably benign |
Het |
Ssbp4 |
G |
T |
8: 71,052,395 (GRCm39) |
L147I |
probably benign |
Het |
Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
Syt14 |
A |
G |
1: 192,612,814 (GRCm39) |
V379A |
probably damaging |
Het |
Tat |
T |
G |
8: 110,722,820 (GRCm39) |
I294S |
probably damaging |
Het |
Tcf19 |
A |
G |
17: 35,825,899 (GRCm39) |
V86A |
probably damaging |
Het |
Tfap2a |
T |
A |
13: 40,870,875 (GRCm39) |
I338F |
possibly damaging |
Het |
Tmco6 |
C |
A |
18: 36,872,384 (GRCm39) |
N365K |
probably damaging |
Het |
Tmub2 |
G |
A |
11: 102,178,475 (GRCm39) |
R164K |
|
Het |
Togaram1 |
A |
G |
12: 65,065,906 (GRCm39) |
I1637V |
possibly damaging |
Het |
Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
Ybx1 |
T |
A |
4: 119,138,794 (GRCm39) |
Y236F |
possibly damaging |
Het |
Zfhx3 |
T |
A |
8: 109,676,756 (GRCm39) |
I2602N |
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 |
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 |
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'- CTGAAAAGACTTGCTCTATGGC -3'
(R):5'- GCAGAGATACTCATTGTGCCAAG -3'
Sequencing Primer
(F):5'- AAGACTTGCTCTATGGCATTTTTC -3'
(R):5'- CTCATTGTGCCAAGATGTATTTACC -3'
|
Posted On |
2022-02-07 |