Incidental Mutation 'R7169:Adamts14'
ID |
558138 |
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 |
045229-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7169 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
61032891-61109217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61040707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 870
(V870A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092486]
[ENSMUST00000120336]
|
AlphaFold |
E9PX39 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092486
AA Change: V870A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000090143 Gene: ENSMUSG00000059901 AA Change: V870A
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: V873A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112723 Gene: ENSMUSG00000059901 AA Change: V873A
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: 99.7%
- 20x: 98.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
G |
10: 20,930,918 (GRCm39) |
D919E |
probably damaging |
Het |
Angptl6 |
T |
A |
9: 20,786,475 (GRCm39) |
R390S |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,634,755 (GRCm39) |
I873V |
possibly damaging |
Het |
BC024063 |
T |
C |
10: 81,946,293 (GRCm39) |
Y638H |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,718,403 (GRCm39) |
S751P |
probably benign |
Het |
Calhm5 |
T |
A |
10: 33,968,160 (GRCm39) |
T298S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,875,078 (GRCm39) |
A287T |
possibly damaging |
Het |
Clic3 |
G |
A |
2: 25,348,731 (GRCm39) |
R237H |
probably benign |
Het |
Cog6 |
G |
T |
3: 52,897,387 (GRCm39) |
P562H |
possibly damaging |
Het |
Csnk2a2 |
A |
G |
8: 96,215,006 (GRCm39) |
Y24H |
|
Het |
Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
Cyria |
A |
G |
12: 12,409,233 (GRCm39) |
D71G |
possibly damaging |
Het |
Dennd6b |
A |
T |
15: 89,073,055 (GRCm39) |
F161I |
possibly damaging |
Het |
Dnah14 |
G |
T |
1: 181,529,930 (GRCm39) |
V2235L |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,015,729 (GRCm39) |
V3636D |
probably damaging |
Het |
Dpm1 |
A |
T |
2: 168,053,343 (GRCm39) |
Y207* |
probably null |
Het |
Eml3 |
A |
G |
19: 8,910,828 (GRCm39) |
T227A |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Eppk1 |
C |
A |
15: 75,990,114 (GRCm39) |
A2256S |
probably benign |
Het |
Etnppl |
A |
T |
3: 130,414,345 (GRCm39) |
N80I |
probably damaging |
Het |
Eya4 |
A |
T |
10: 23,031,845 (GRCm39) |
N236K |
probably benign |
Het |
Gm12886 |
T |
G |
4: 121,273,948 (GRCm39) |
Q89H |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,204,358 (GRCm39) |
T200A |
probably benign |
Het |
Hipk1 |
C |
T |
3: 103,651,533 (GRCm39) |
A1122T |
probably benign |
Het |
Icos |
A |
G |
1: 61,034,705 (GRCm39) |
D176G |
probably damaging |
Het |
Igkv5-43 |
T |
A |
6: 69,800,519 (GRCm39) |
Y56F |
probably damaging |
Het |
Il1r1 |
T |
C |
1: 40,332,519 (GRCm39) |
|
probably null |
Het |
Ildr2 |
G |
A |
1: 166,135,503 (GRCm39) |
|
probably null |
Het |
Ilf3 |
T |
A |
9: 21,306,722 (GRCm39) |
H305Q |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,715,901 (GRCm39) |
H532R |
probably benign |
Het |
Lmbr1l |
CACTACATACTACATACTACATACTACATACTACATACTACATAC |
CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC |
15: 98,807,039 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
ACTACAT |
ACTACATGCTACAT |
15: 98,807,075 (GRCm39) |
|
probably benign |
Het |
Lratd1 |
A |
G |
12: 14,200,619 (GRCm39) |
F36S |
probably damaging |
Het |
Lrrc25 |
T |
G |
8: 71,070,437 (GRCm39) |
S73A |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,544,565 (GRCm39) |
L121P |
probably damaging |
Het |
Ly6c1 |
C |
A |
15: 74,916,495 (GRCm39) |
V116L |
probably benign |
Het |
Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,836 (GRCm39) |
D1009V |
probably damaging |
Het |
Mybpc3 |
T |
C |
2: 90,948,524 (GRCm39) |
V4A |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,497,636 (GRCm39) |
S979P |
possibly damaging |
Het |
Ntn5 |
C |
T |
7: 45,336,198 (GRCm39) |
R210* |
probably null |
Het |
Nuak1 |
T |
C |
10: 84,210,609 (GRCm39) |
D493G |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,659,304 (GRCm39) |
D11E |
probably benign |
Het |
Or13a1 |
G |
T |
6: 116,471,025 (GRCm39) |
A152S |
probably benign |
Het |
Or4f14 |
A |
G |
2: 111,742,939 (GRCm39) |
M112T |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,943 (GRCm39) |
Y60N |
probably damaging |
Het |
Or56a41 |
T |
C |
7: 104,740,397 (GRCm39) |
I150V |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
Pkm |
A |
G |
9: 59,578,908 (GRCm39) |
D296G |
possibly damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Pop5 |
T |
A |
5: 115,378,287 (GRCm39) |
V77E |
possibly damaging |
Het |
Ppp1r10 |
T |
C |
17: 36,240,365 (GRCm39) |
S552P |
probably damaging |
Het |
Rabggta |
C |
G |
14: 55,958,358 (GRCm39) |
R101P |
probably damaging |
Het |
Rorc |
A |
T |
3: 94,296,487 (GRCm39) |
E243V |
probably benign |
Het |
Setmar |
C |
A |
6: 108,042,049 (GRCm39) |
A3E |
possibly damaging |
Het |
Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
Slc12a7 |
G |
A |
13: 73,932,679 (GRCm39) |
V56M |
probably benign |
Het |
Snph |
T |
A |
2: 151,436,307 (GRCm39) |
N207I |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,280,362 (GRCm39) |
V531A |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tlr3 |
A |
T |
8: 45,850,056 (GRCm39) |
M871K |
probably damaging |
Het |
Tnfrsf11a |
A |
T |
1: 105,772,421 (GRCm39) |
R569S |
possibly damaging |
Het |
Trim66 |
A |
G |
7: 109,054,328 (GRCm39) |
V1294A |
probably benign |
Het |
Vldlr |
G |
A |
19: 27,221,728 (GRCm39) |
V698I |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,663 (GRCm39) |
Q550* |
probably null |
Het |
Zdhhc5 |
A |
T |
2: 84,532,675 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
A |
8: 109,678,030 (GRCm39) |
Y3027N |
possibly damaging |
Het |
Zfp663 |
C |
T |
2: 165,194,359 (GRCm39) |
S620N |
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 |
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'- TTTGGCGTAAGGAAGTGCTAC -3'
(R):5'- CAAAGTCACTTCTCCACTGGTG -3'
Sequencing Primer
(F):5'- TTTGGCGTAAGGAAGTGCTACAGTAG -3'
(R):5'- CCTGTAGAAAGTTACTTGCCCAGG -3'
|
Posted On |
2019-06-26 |