Incidental Mutation 'R4006:Adamts14'
ID |
311485 |
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 |
040845-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4006 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
61032891-61109217 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 61038600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112723
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092486]
[ENSMUST00000092486]
[ENSMUST00000120336]
[ENSMUST00000120336]
|
AlphaFold |
E9PX39 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092486
|
SMART Domains |
Protein: ENSMUSP00000090143 Gene: ENSMUSG00000059901
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 null
Transcript: ENSMUST00000092486
|
SMART Domains |
Protein: ENSMUSP00000090143 Gene: ENSMUSG00000059901
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 null
Transcript: ENSMUST00000120336
|
SMART Domains |
Protein: ENSMUSP00000112723 Gene: ENSMUSG00000059901
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120336
|
SMART Domains |
Protein: ENSMUSP00000112723 Gene: ENSMUSG00000059901
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
C |
A |
10: 88,924,125 (GRCm39) |
V329L |
probably benign |
Het |
Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
Lrrn2 |
A |
T |
1: 132,865,478 (GRCm39) |
D181V |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,468 (GRCm39) |
T135I |
probably damaging |
Het |
Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
Ppp1r37 |
A |
G |
7: 19,268,994 (GRCm39) |
S169P |
probably damaging |
Het |
Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
Zfp317 |
T |
G |
9: 19,559,333 (GRCm39) |
W516G |
possibly damaging |
Het |
Zfp974 |
G |
A |
7: 27,611,677 (GRCm39) |
T16I |
possibly 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 |
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'- ATGCATAGCACACTGGTGGG -3'
(R):5'- ATTCCGAAGCACGCACCTTC -3'
Sequencing Primer
(F):5'- TCATATTGCCCCCAAGAG -3'
(R):5'- AAGCACGCACCTTCTCTGG -3'
|
Posted On |
2015-04-29 |