Incidental Mutation 'R8797:Adamts14'
| ID |
671316 |
| 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 |
068638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
61032891-61109217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61106781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 113
(R113K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092486]
[ENSMUST00000120336]
|
| AlphaFold |
E9PX39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092486
AA Change: R113K
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: R113K
| 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: R113K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: R113K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
C |
A |
7: 119,137,374 (GRCm39) |
P397T |
probably damaging |
Het |
| Baiap2 |
G |
A |
11: 119,897,201 (GRCm39) |
V519I |
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,953,069 (GRCm39) |
A233T |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,389,931 (GRCm39) |
Y862H |
probably damaging |
Het |
| Crygc |
C |
T |
1: 65,111,030 (GRCm39) |
A86T |
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,669,662 (GRCm39) |
N232T |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,465,412 (GRCm39) |
H1193N |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,992,201 (GRCm39) |
E1170A |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,162,806 (GRCm39) |
Y384C |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,053,278 (GRCm39) |
V4091I |
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,050,441 (GRCm39) |
Y22C |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,828 (GRCm39) |
Q181L |
possibly damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,552 (GRCm39) |
S113L |
probably damaging |
Het |
| Hhatl |
A |
T |
9: 121,619,965 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,841,738 (GRCm39) |
S75R |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,573 (GRCm39) |
I375F |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,618,529 (GRCm39) |
I647V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,060,616 (GRCm39) |
C703S |
probably benign |
Het |
| L3mbtl2 |
C |
T |
15: 81,569,615 (GRCm39) |
T619I |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,684 (GRCm39) |
T722A |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,567,686 (GRCm39) |
Q827* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,986 (GRCm39) |
S386G |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,071,876 (GRCm39) |
D543V |
probably damaging |
Het |
| Ms4a13 |
C |
T |
19: 11,161,200 (GRCm39) |
R113H |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,325 (GRCm39) |
Y826C |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,366,711 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
A |
C |
14: 38,093,243 (GRCm39) |
L542R |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,706,455 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2y8 |
T |
A |
11: 52,036,340 (GRCm39) |
T6S |
probably benign |
Het |
| Or6c65 |
T |
A |
10: 129,603,674 (GRCm39) |
I103K |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,978 (GRCm39) |
N1212S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,443,472 (GRCm39) |
T1229I |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,374,946 (GRCm39) |
H1483L |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,532,879 (GRCm39) |
L840* |
probably null |
Het |
| Psd4 |
A |
T |
2: 24,287,440 (GRCm39) |
R457S |
probably benign |
Het |
| Relch |
T |
C |
1: 105,678,121 (GRCm39) |
S1149P |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,186,915 (GRCm39) |
S194G |
|
Het |
| Rps3 |
A |
G |
7: 99,132,797 (GRCm39) |
|
probably null |
Het |
| Saxo4 |
T |
C |
19: 10,455,602 (GRCm39) |
I216V |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,036 (GRCm39) |
N255K |
probably benign |
Het |
| Sla2 |
A |
G |
2: 156,717,799 (GRCm39) |
Y158H |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,823 (GRCm39) |
Q150* |
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,012,455 (GRCm39) |
Y193N |
possibly damaging |
Het |
| Supt16 |
G |
T |
14: 52,409,960 (GRCm39) |
T749K |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,239,500 (GRCm39) |
E104G |
probably damaging |
Het |
| Vasp |
T |
C |
7: 18,994,563 (GRCm39) |
N251S |
unknown |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,965 (GRCm39) |
M161T |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,906 (GRCm39) |
L20* |
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 |
|
|
R2848:Adamts14
|
UTSW |
10 |
61,054,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACAGGAGTAAAAGTGGTGTCCC -3'
(R):5'- CCTCTCTGGGAAACTTCACG -3'
Sequencing Primer
(F):5'- GAGTAAAAGTGGTGTCCCTTACC -3'
(R):5'- TTGCAGCACAGATTTCCAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation