Incidental Mutation 'R7511:Adamts14'
| ID |
582102 |
| 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 |
045584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
61032891-61109217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61054307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 572
(A572V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092486]
[ENSMUST00000120336]
|
| AlphaFold |
E9PX39 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092486
AA Change: A572V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: A572V
| 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: A575V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: A575V
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,189,954 (GRCm39) |
K327E |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,075,597 (GRCm39) |
N249D |
probably benign |
Het |
| Adgrb2 |
A |
T |
4: 129,915,904 (GRCm39) |
M1503L |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,586,407 (GRCm39) |
K421E |
unknown |
Het |
| B3galt5 |
A |
G |
16: 96,116,916 (GRCm39) |
K183R |
possibly damaging |
Het |
| Braf |
T |
C |
6: 39,665,187 (GRCm39) |
I94M |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,294,311 (GRCm39) |
E1158G |
possibly damaging |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| Ccdc38 |
C |
A |
10: 93,398,662 (GRCm39) |
L147I |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,886,130 (GRCm39) |
N210D |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,925,583 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,202,525 (GRCm39) |
Y338N |
probably damaging |
Het |
| Crlf3 |
A |
C |
11: 79,954,812 (GRCm39) |
|
probably null |
Het |
| Crnn |
A |
T |
3: 93,056,723 (GRCm39) |
K503M |
probably damaging |
Het |
| Cul5 |
T |
A |
9: 53,537,269 (GRCm39) |
N521I |
probably damaging |
Het |
| Cyp2c50 |
T |
A |
19: 40,080,634 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,337,042 (GRCm39) |
H23R |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,949,519 (GRCm39) |
L441H |
|
Het |
| Dock7 |
C |
A |
4: 98,967,992 (GRCm39) |
E162* |
probably null |
Het |
| Dpp9 |
A |
T |
17: 56,512,611 (GRCm39) |
M174K |
possibly damaging |
Het |
| Dtd1 |
A |
G |
2: 144,459,147 (GRCm39) |
D57G |
probably benign |
Het |
| F3 |
A |
G |
3: 121,525,206 (GRCm39) |
E149G |
probably damaging |
Het |
| Glp2r |
C |
T |
11: 67,648,417 (GRCm39) |
R95K |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,358 (GRCm39) |
F273L |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,174,451 (GRCm39) |
I647F |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,926,217 (GRCm39) |
I1878S |
possibly damaging |
Het |
| Hsf2 |
G |
T |
10: 57,380,653 (GRCm39) |
C230F |
probably benign |
Het |
| Igfbp2 |
T |
G |
1: 72,891,164 (GRCm39) |
M254R |
probably damaging |
Het |
| Kifc2 |
C |
A |
15: 76,545,537 (GRCm39) |
Q95K |
possibly damaging |
Het |
| Lnx1 |
T |
G |
5: 74,780,972 (GRCm39) |
N183T |
probably benign |
Het |
| Ltn1 |
G |
T |
16: 87,205,716 (GRCm39) |
T983K |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,367,093 (GRCm39) |
V2556D |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
| Mtmr12 |
T |
G |
15: 12,265,681 (GRCm39) |
Y466D |
possibly damaging |
Het |
| Musk |
A |
G |
4: 58,333,672 (GRCm39) |
I256V |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,452,338 (GRCm39) |
F43S |
probably damaging |
Het |
| Or10g9b |
A |
T |
9: 39,918,229 (GRCm39) |
S5R |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,713 (GRCm39) |
L206P |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,390,249 (GRCm39) |
A132T |
probably damaging |
Het |
| Pak5 |
G |
A |
2: 135,925,244 (GRCm39) |
S686F |
possibly damaging |
Het |
| Pi4kb |
T |
C |
3: 94,896,623 (GRCm39) |
S307P |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,318,889 (GRCm39) |
T645A |
possibly damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,614 (GRCm39) |
R124K |
possibly damaging |
Het |
| Pramel27 |
T |
A |
4: 143,573,116 (GRCm39) |
I3N |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,289,777 (GRCm39) |
Y1153H |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,391,693 (GRCm39) |
N947S |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,578,956 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
A |
G |
10: 81,335,623 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,432,269 (GRCm39) |
K760E |
probably benign |
Het |
| Sergef |
T |
A |
7: 46,264,170 (GRCm39) |
N239I |
probably damaging |
Het |
| Serpinb9 |
C |
A |
13: 33,192,054 (GRCm39) |
N78K |
probably benign |
Het |
| Sntb1 |
G |
T |
15: 55,511,347 (GRCm39) |
F412L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,032,108 (GRCm39) |
F294L |
probably damaging |
Het |
| Ttll11 |
G |
A |
2: 35,793,046 (GRCm39) |
R266C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,624,882 (GRCm39) |
M15232K |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,584,793 (GRCm39) |
I547M |
probably benign |
Het |
| Vgf |
C |
A |
5: 137,060,245 (GRCm39) |
P136T |
unknown |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,914 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,901,405 (GRCm39) |
S511P |
probably damaging |
Het |
| Wdr27 |
C |
T |
17: 15,103,965 (GRCm39) |
V714I |
probably benign |
Het |
| Zbed6 |
T |
A |
1: 133,586,981 (GRCm39) |
I119L |
probably benign |
Het |
| Zfp229 |
A |
G |
17: 21,964,045 (GRCm39) |
S92G |
probably benign |
Het |
| Zfp710 |
C |
T |
7: 79,732,250 (GRCm39) |
Q476* |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,320,637 (GRCm39) |
N622S |
probably benign |
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 |
|
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'- ACAAGAACATGCCCAAGAGTTG -3'
(R):5'- TTCCTATGGGTGAAATAGTCAGGG -3'
Sequencing Primer
(F):5'- GAGCCACTCACCACTGTCG -3'
(R):5'- CTGTAGTCCCAATACTCAGGAGGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation