Incidental Mutation 'R7866:Adamts6'
| ID |
607796 |
| 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 |
045918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
R7866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 104550257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 624
(C624*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065766
AA Change: C624*
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: C624*
| 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 null
Transcript: ENSMUST00000224208
AA Change: C624*
|
| 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: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,317,269 (GRCm39) |
R194* |
probably null |
Het |
| Actl6a |
A |
G |
3: 32,766,262 (GRCm39) |
T39A |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,664,564 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
A |
G |
8: 23,289,674 (GRCm39) |
V143A |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Aqp5 |
T |
A |
15: 99,489,424 (GRCm39) |
V91E |
probably damaging |
Het |
| Atp6v0b |
A |
T |
4: 117,742,350 (GRCm39) |
I181N |
probably damaging |
Het |
| Ccp110 |
T |
A |
7: 118,322,241 (GRCm39) |
M632K |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,672,604 (GRCm39) |
|
probably null |
Het |
| Cidea |
G |
A |
18: 67,491,854 (GRCm39) |
R38Q |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,042 (GRCm39) |
I86T |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,252,016 (GRCm39) |
D557E |
unknown |
Het |
| Col6a6 |
T |
C |
9: 105,566,760 (GRCm39) |
Y2245C |
probably damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,725,092 (GRCm39) |
N196Y |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,093,901 (GRCm39) |
V4665A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,716,113 (GRCm39) |
T267A |
|
Het |
| Dtx3l |
T |
A |
16: 35,759,120 (GRCm39) |
Q43L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,738 (GRCm39) |
S59P |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,758,126 (GRCm39) |
T435A |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,333,925 (GRCm39) |
F1090I |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Fnip1 |
T |
G |
11: 54,356,228 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
C |
T |
11: 42,378,050 (GRCm39) |
Q89* |
probably null |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,063 (GRCm39) |
V882E |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,532,804 (GRCm39) |
M1K |
probably null |
Het |
| Ift70b |
A |
G |
2: 75,766,963 (GRCm39) |
S597P |
possibly damaging |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,025 (GRCm39) |
D90V |
possibly damaging |
Het |
| Igkv4-54 |
G |
A |
6: 69,608,740 (GRCm39) |
R60C |
probably benign |
Het |
| Igkv7-33 |
G |
T |
6: 70,035,847 (GRCm39) |
A45D |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,762,168 (GRCm39) |
I15F |
possibly damaging |
Het |
| Lamp3 |
T |
A |
16: 19,518,490 (GRCm39) |
D249V |
probably benign |
Het |
| Lrrfip2 |
T |
C |
9: 111,022,149 (GRCm39) |
V125A |
possibly damaging |
Het |
| Mprip |
G |
A |
11: 59,643,756 (GRCm39) |
R638H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,349,589 (GRCm39) |
M501V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,111,034 (GRCm39) |
P1509S |
probably damaging |
Het |
| Ngdn |
A |
G |
14: 55,258,554 (GRCm39) |
Y63C |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,259,852 (GRCm39) |
V517A |
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,906,027 (GRCm39) |
S235T |
not run |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,512 (GRCm39) |
F281I |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,809,881 (GRCm39) |
Q3520K |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,525 (GRCm39) |
I127N |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,655,390 (GRCm39) |
N319I |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,686,665 (GRCm39) |
S386P |
possibly damaging |
Het |
| Ralgps2 |
C |
T |
1: 156,714,738 (GRCm39) |
V104I |
probably benign |
Het |
| Rp1 |
C |
T |
1: 4,417,924 (GRCm39) |
V1063I |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,532 (GRCm39) |
F376Y |
probably damaging |
Het |
| Snd1 |
T |
A |
6: 28,527,724 (GRCm39) |
I277N |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,406 (GRCm39) |
|
probably null |
Het |
| Tex29 |
A |
G |
8: 11,894,055 (GRCm39) |
N6D |
unknown |
Het |
| Top6bl |
T |
A |
19: 4,748,514 (GRCm39) |
R61S |
unknown |
Het |
| Ttc6 |
G |
A |
12: 57,721,435 (GRCm39) |
A975T |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,320,560 (GRCm39) |
E13G |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,211,927 (GRCm39) |
C98G |
possibly damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,240,190 (GRCm39) |
D65V |
probably damaging |
Het |
| Unc93b1 |
A |
T |
19: 3,985,243 (GRCm39) |
D17V |
not run |
Het |
| Usf1 |
G |
T |
1: 171,245,462 (GRCm39) |
W291C |
unknown |
Het |
| Vps29 |
T |
C |
5: 122,500,180 (GRCm39) |
W97R |
possibly damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,577 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,629 (GRCm39) |
D191A |
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 |
|
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'- CGTGTGAAGTTCCATGGCAAC -3'
(R):5'- GCTTTGACTAGCAAACACTAACTC -3'
Sequencing Primer
(F):5'- AGTTCCATGGCAACTGCTAG -3'
(R):5'- AGCAAACACTAACTCTAACTAACATG -3'
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| Posted On |
2019-12-20 |
Incidental Mutation