Incidental Mutation 'R8547:Adamts14'
| ID |
659694 |
| 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 |
068512-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61032891-61109217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 61106998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 41
(T41P)
|
| 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: T41P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: T41P
| 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: T41P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: T41P
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,474 (GRCm39) |
V972A |
probably benign |
Het |
| Adamtsl3 |
C |
T |
7: 82,077,621 (GRCm39) |
T102I |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,264,109 (GRCm39) |
I366V |
probably null |
Het |
| Aldh1a7 |
A |
G |
19: 20,692,067 (GRCm39) |
V242A |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,655,829 (GRCm39) |
S1280P |
probably benign |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,412,305 (GRCm39) |
W131R |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,345,725 (GRCm39) |
E957G |
probably damaging |
Het |
| Ccn6 |
T |
A |
10: 39,027,194 (GRCm39) |
D346V |
probably damaging |
Het |
| Cd28 |
G |
A |
1: 60,785,681 (GRCm39) |
V17I |
probably benign |
Het |
| Cfl2 |
A |
T |
12: 54,908,398 (GRCm39) |
L75* |
probably null |
Het |
| Clspn |
T |
A |
4: 126,455,609 (GRCm39) |
L45H |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,479,305 (GRCm39) |
|
probably null |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
T |
10: 128,556,881 (GRCm39) |
I663N |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,993,249 (GRCm39) |
V1211I |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,698,117 (GRCm39) |
S280P |
probably damaging |
Het |
| Fgd2 |
C |
T |
17: 29,583,934 (GRCm39) |
A116V |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,558,811 (GRCm39) |
Q424K |
probably benign |
Het |
| Fn3k |
T |
C |
11: 121,340,987 (GRCm39) |
L214P |
probably damaging |
Het |
| Gm3404 |
A |
T |
5: 146,465,108 (GRCm39) |
R283W |
possibly damaging |
Het |
| Gtdc1 |
A |
G |
2: 44,678,993 (GRCm39) |
|
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,279,049 (GRCm39) |
I26T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,152,291 (GRCm39) |
F596L |
probably damaging |
Het |
| Ipo7 |
T |
G |
7: 109,652,000 (GRCm39) |
D926E |
probably benign |
Het |
| Krt16 |
G |
A |
11: 100,137,083 (GRCm39) |
Q463* |
probably null |
Het |
| Lats1 |
T |
C |
10: 7,588,613 (GRCm39) |
F1077L |
probably damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,704,014 (GRCm39) |
I269V |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,446 (GRCm39) |
C23S |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,184,811 (GRCm39) |
C962R |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,391 (GRCm39) |
L435P |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,798 (GRCm39) |
Q259* |
probably null |
Het |
| Or1e23 |
T |
C |
11: 73,407,440 (GRCm39) |
N195S |
probably damaging |
Het |
| Potegl |
A |
T |
2: 23,120,135 (GRCm39) |
Y177F |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,761,630 (GRCm39) |
V144A |
possibly damaging |
Het |
| Psmg2 |
T |
A |
18: 67,779,077 (GRCm39) |
S82T |
possibly damaging |
Het |
| Ptcd2 |
A |
C |
13: 99,469,462 (GRCm39) |
F154V |
probably damaging |
Het |
| Ptchd4 |
A |
C |
17: 42,813,512 (GRCm39) |
D471A |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,315,674 (GRCm39) |
T309I |
possibly damaging |
Het |
| Runx3 |
T |
C |
4: 134,898,455 (GRCm39) |
F209L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,676 (GRCm39) |
|
probably benign |
Het |
| Slc35g3 |
T |
C |
11: 69,652,446 (GRCm39) |
E22G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,013,647 (GRCm39) |
M1303K |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,340,533 (GRCm39) |
S562T |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,453,798 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
C |
T |
9: 103,213,264 (GRCm39) |
P1028L |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,975,840 (GRCm39) |
L833Q |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,311 (GRCm39) |
Y342C |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,161 (GRCm39) |
C460Y |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,852,848 (GRCm39) |
I2376N |
probably damaging |
Het |
| Zbtb21 |
C |
A |
16: 97,753,315 (GRCm39) |
A351S |
possibly damaging |
Het |
| Zzef1 |
T |
G |
11: 72,735,267 (GRCm39) |
Y623D |
probably damaging |
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 |
|
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'- GCCTCAAGTGAAGCAGCTTC -3'
(R):5'- GTACTTGAACTTGAGGCTAAGGG -3'
Sequencing Primer
(F):5'- AGTGAAGCAGCTTCCCAAAG -3'
(R):5'- GACCTGTGATAAGTGATGCTCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation