Incidental Mutation 'R2848:Adamts14'
| ID |
251860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts14
|
| Ensembl Gene |
ENSMUSG00000059901 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 14 |
| Synonyms |
TS14, Adamts-14 |
| MMRRC Submission |
040441-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2848 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61032891-61109217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61054214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 606
(Q606L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092486]
[ENSMUST00000120336]
|
| AlphaFold |
E9PX39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092486
AA Change: Q603L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: Q603L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
38 |
194 |
6.3e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
245 |
424 |
6e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
246 |
432 |
2.5e-7 |
PFAM |
|
Pfam:Reprolysin
|
246 |
447 |
1.9e-21 |
PFAM |
|
Pfam:Reprolysin_2
|
264 |
437 |
9.2e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
268 |
396 |
2.5e-12 |
PFAM |
|
TSP1
|
542 |
594 |
5.9e-16 |
SMART |
|
Pfam:ADAM_spacer1
|
701 |
816 |
1.8e-24 |
PFAM |
|
TSP1
|
837 |
894 |
2.1e-2 |
SMART |
|
TSP1
|
897 |
956 |
3.42e-3 |
SMART |
|
TSP1
|
959 |
1009 |
4.48e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120336
AA Change: Q606L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: Q606L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
194 |
1.6e-38 |
PFAM |
|
Pfam:Reprolysin_5
|
245 |
427 |
5.9e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
246 |
435 |
1.1e-7 |
PFAM |
|
Pfam:Reprolysin
|
246 |
450 |
3.2e-20 |
PFAM |
|
Pfam:Reprolysin_2
|
264 |
441 |
5.5e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
268 |
399 |
1.5e-13 |
PFAM |
|
TSP1
|
545 |
597 |
5.9e-16 |
SMART |
|
Pfam:ADAM_spacer1
|
704 |
819 |
8e-25 |
PFAM |
|
TSP1
|
840 |
897 |
2.1e-2 |
SMART |
|
TSP1
|
900 |
959 |
3.42e-3 |
SMART |
|
TSP1
|
962 |
1012 |
4.48e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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 motif) 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. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
A |
T |
7: 126,429,894 (GRCm39) |
F101Y |
possibly damaging |
Het |
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Adgrf5 |
C |
A |
17: 43,733,531 (GRCm39) |
N118K |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,755,010 (GRCm39) |
Y1073N |
possibly damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,936 (GRCm39) |
R282G |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,183,387 (GRCm39) |
D31V |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,328,342 (GRCm39) |
L81P |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,051 (GRCm39) |
L209Q |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,746,067 (GRCm39) |
A1684V |
probably damaging |
Het |
| Cyp4f37 |
T |
A |
17: 32,848,099 (GRCm39) |
C206S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,567,161 (GRCm39) |
V2355A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,106,314 (GRCm39) |
K1756E |
probably benign |
Het |
| Fis1 |
T |
C |
5: 136,991,971 (GRCm39) |
I55T |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,469,831 (GRCm39) |
P98S |
probably damaging |
Het |
| Gpr37 |
C |
T |
6: 25,666,945 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,579,829 (GRCm39) |
F145L |
possibly damaging |
Het |
| Htr4 |
T |
C |
18: 62,561,197 (GRCm39) |
S153P |
probably damaging |
Het |
| Igkv9-120 |
T |
A |
6: 68,027,128 (GRCm39) |
|
probably benign |
Het |
| Il12rb1 |
G |
A |
8: 71,268,446 (GRCm39) |
W396* |
probably null |
Het |
| Itga8 |
A |
T |
2: 12,165,215 (GRCm39) |
V798D |
probably damaging |
Het |
| Lfng |
T |
A |
5: 140,597,622 (GRCm39) |
D149E |
probably damaging |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mgam |
C |
A |
6: 40,629,649 (GRCm39) |
A86E |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,139,459 (GRCm39) |
N592S |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,573,323 (GRCm39) |
C816R |
probably damaging |
Het |
| Nek8 |
A |
G |
11: 78,058,967 (GRCm39) |
S513P |
probably damaging |
Het |
| Ociad1 |
A |
G |
5: 73,451,694 (GRCm39) |
|
probably null |
Het |
| Or1j4 |
A |
G |
2: 36,740,811 (GRCm39) |
Y251C |
probably damaging |
Het |
| Or2t35 |
C |
T |
14: 14,407,398 (GRCm38) |
P57S |
probably damaging |
Het |
| Or4g7 |
T |
C |
2: 111,309,699 (GRCm39) |
M190T |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdh7 |
G |
A |
5: 57,877,618 (GRCm39) |
G391E |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,253 (GRCm39) |
V338E |
possibly damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,756,912 (GRCm39) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
| Ppargc1a |
A |
G |
5: 51,631,151 (GRCm39) |
F493L |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,386,919 (GRCm39) |
H603Q |
probably benign |
Het |
| Rnf10 |
T |
C |
5: 115,387,171 (GRCm39) |
D439G |
probably benign |
Het |
| Shfl |
A |
T |
9: 20,784,868 (GRCm39) |
H225L |
probably damaging |
Het |
| Syt3 |
G |
A |
7: 44,042,866 (GRCm39) |
V383I |
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Try5 |
C |
T |
6: 41,290,410 (GRCm39) |
V25I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,749,551 (GRCm39) |
Q3833K |
probably benign |
Het |
| Usp53 |
G |
A |
3: 122,728,140 (GRCm39) |
P814L |
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,810,759 (GRCm39) |
N81K |
probably benign |
Het |
| Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,509,948 (GRCm39) |
M844K |
probably benign |
Het |
| Vwa8 |
G |
T |
14: 79,184,582 (GRCm39) |
R360L |
probably benign |
Het |
| Xlr4b |
A |
T |
X: 72,258,938 (GRCm39) |
Q25L |
probably null |
Het |
| Zfp532 |
T |
A |
18: 65,789,697 (GRCm39) |
H1045Q |
possibly damaging |
Het |
| Zfp985 |
G |
A |
4: 147,667,468 (GRCm39) |
W112* |
probably null |
Het |
|
| Other mutations in Adamts14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Adamts14
|
APN |
10 |
61,065,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00800:Adamts14
|
APN |
10 |
61,041,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01021:Adamts14
|
APN |
10 |
61,061,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01022:Adamts14
|
APN |
10 |
61,038,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01335:Adamts14
|
APN |
10 |
61,034,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01419:Adamts14
|
APN |
10 |
61,041,321 (GRCm39) |
splice site |
probably benign |
|
|
IGL01595:Adamts14
|
APN |
10 |
61,041,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Adamts14
|
UTSW |
10 |
61,038,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Adamts14
|
UTSW |
10 |
61,047,403 (GRCm39) |
nonsense |
probably null |
|
|
R1459:Adamts14
|
UTSW |
10 |
61,034,583 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1565:Adamts14
|
UTSW |
10 |
61,106,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Adamts14
|
UTSW |
10 |
61,034,439 (GRCm39) |
missense |
probably benign |
|
|
R1792:Adamts14
|
UTSW |
10 |
61,054,277 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1876:Adamts14
|
UTSW |
10 |
61,036,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1992:Adamts14
|
UTSW |
10 |
61,034,439 (GRCm39) |
missense |
probably benign |
|
|
R2064:Adamts14
|
UTSW |
10 |
61,041,301 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2495:Adamts14
|
UTSW |
10 |
61,034,749 (GRCm39) |
splice site |
probably null |
|
|
R2897:Adamts14
|
UTSW |
10 |
61,040,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3428:Adamts14
|
UTSW |
10 |
61,060,153 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4006:Adamts14
|
UTSW |
10 |
61,038,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5129:Adamts14
|
UTSW |
10 |
61,085,397 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5327:Adamts14
|
UTSW |
10 |
61,034,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5524:Adamts14
|
UTSW |
10 |
61,066,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Adamts14
|
UTSW |
10 |
61,062,880 (GRCm39) |
splice site |
probably null |
|
|
R5694:Adamts14
|
UTSW |
10 |
61,065,431 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5801:Adamts14
|
UTSW |
10 |
61,038,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5941:Adamts14
|
UTSW |
10 |
61,057,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Adamts14
|
UTSW |
10 |
61,043,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6778:Adamts14
|
UTSW |
10 |
61,061,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7169:Adamts14
|
UTSW |
10 |
61,040,707 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7215:Adamts14
|
UTSW |
10 |
61,047,375 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7337:Adamts14
|
UTSW |
10 |
61,043,239 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7511:Adamts14
|
UTSW |
10 |
61,054,307 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7640:Adamts14
|
UTSW |
10 |
61,081,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7798:Adamts14
|
UTSW |
10 |
61,106,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7902:Adamts14
|
UTSW |
10 |
61,041,176 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8062:Adamts14
|
UTSW |
10 |
61,036,140 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8284:Adamts14
|
UTSW |
10 |
61,034,438 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8319:Adamts14
|
UTSW |
10 |
61,057,706 (GRCm39) |
missense |
probably benign |
|
|
R8475:Adamts14
|
UTSW |
10 |
61,038,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Adamts14
|
UTSW |
10 |
61,038,708 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8519:Adamts14
|
UTSW |
10 |
61,038,619 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8547:Adamts14
|
UTSW |
10 |
61,106,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Adamts14
|
UTSW |
10 |
61,106,781 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8978:Adamts14
|
UTSW |
10 |
61,038,795 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9023:Adamts14
|
UTSW |
10 |
61,038,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:Adamts14
|
UTSW |
10 |
61,085,439 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9326:Adamts14
|
UTSW |
10 |
61,036,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9641:Adamts14
|
UTSW |
10 |
61,106,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9785:Adamts14
|
UTSW |
10 |
61,049,427 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1088:Adamts14
|
UTSW |
10 |
61,054,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adamts14
|
UTSW |
10 |
61,034,622 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACAGTGACTCCACAAGTG -3'
(R):5'- GTCTCATGTGGGAAGCTCTC -3'
Sequencing Primer
(F):5'- GTGACTCCACAAGTGCATGAC -3'
(R):5'- ATGTGGGAAGCTCTCCTCTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation