Incidental Mutation 'R2495:Adamts14'
| ID |
250990 |
| 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 |
040409-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2495 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
61032891-61109217 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 61034749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092486]
[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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,536,109 (GRCm39) |
F125S |
unknown |
Het |
| Abhd17c |
C |
T |
7: 83,759,884 (GRCm39) |
W290* |
probably null |
Het |
| Acsl5 |
A |
T |
19: 55,282,031 (GRCm39) |
K536* |
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,823,699 (GRCm39) |
H788R |
probably damaging |
Het |
| Agrp |
T |
C |
8: 106,293,408 (GRCm39) |
N126D |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,615,663 (GRCm39) |
I349T |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,622,280 (GRCm39) |
W1610R |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,227,567 (GRCm39) |
L1224P |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,881,706 (GRCm39) |
H798Y |
possibly damaging |
Het |
| Capn11 |
T |
A |
17: 45,949,689 (GRCm39) |
M426L |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,700,108 (GRCm39) |
K290E |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,991,201 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 18,860,579 (GRCm39) |
M389K |
probably damaging |
Het |
| Cnksr1 |
A |
T |
4: 133,959,473 (GRCm39) |
L387Q |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,749 (GRCm39) |
P14T |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,403,441 (GRCm39) |
|
probably null |
Het |
| Dido1 |
A |
G |
2: 180,331,181 (GRCm39) |
V89A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,645,040 (GRCm39) |
I999F |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,377,453 (GRCm39) |
L1746Q |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,238,454 (GRCm39) |
S3897P |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,040,545 (GRCm39) |
F887L |
probably benign |
Het |
| Gm21961 |
T |
A |
15: 64,886,722 (GRCm39) |
H11L |
unknown |
Het |
| Gm4559 |
A |
T |
7: 141,827,557 (GRCm39) |
C182S |
unknown |
Het |
| Golga3 |
T |
A |
5: 110,355,462 (GRCm39) |
S939T |
probably damaging |
Het |
| Got2 |
A |
G |
8: 96,614,918 (GRCm39) |
S6P |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,307 (GRCm39) |
H1410Q |
probably damaging |
Het |
| Gpx5 |
T |
A |
13: 21,475,610 (GRCm39) |
T39S |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,710,180 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Gsn |
A |
C |
2: 35,193,205 (GRCm39) |
N538T |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,874,705 (GRCm39) |
S1930P |
probably damaging |
Het |
| Krt6b |
A |
T |
15: 101,586,757 (GRCm39) |
F286Y |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 103,038,242 (GRCm39) |
R854C |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,507,776 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,626,819 (GRCm39) |
|
probably benign |
Het |
| Msc |
T |
G |
1: 14,825,473 (GRCm39) |
Y167S |
probably benign |
Het |
| Mycbp2 |
T |
G |
14: 103,437,554 (GRCm39) |
K2103Q |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,023,421 (GRCm39) |
D1586Y |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,427 (GRCm39) |
D791E |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,746,616 (GRCm39) |
T1272A |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,247,105 (GRCm39) |
L15P |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,351,074 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,203,320 (GRCm39) |
D1091E |
possibly damaging |
Het |
| Rbbp8nl |
C |
A |
2: 179,920,895 (GRCm39) |
K496N |
probably null |
Het |
| Rbm26 |
T |
C |
14: 105,388,748 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
C |
10: 51,602,771 (GRCm39) |
|
probably benign |
Het |
| Rras |
G |
A |
7: 44,667,488 (GRCm39) |
G17R |
probably damaging |
Het |
| Shisa6 |
G |
A |
11: 66,108,459 (GRCm39) |
P473S |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,822 (GRCm39) |
K316E |
probably damaging |
Het |
| Slco1a7 |
C |
A |
6: 141,711,503 (GRCm39) |
M69I |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,849,807 (GRCm39) |
S774P |
possibly damaging |
Het |
| Spsb4 |
T |
C |
9: 96,877,840 (GRCm39) |
Y161C |
probably damaging |
Het |
| Taf3 |
G |
T |
2: 9,957,644 (GRCm39) |
N174K |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,750,330 (GRCm39) |
V78E |
possibly damaging |
Het |
| Ubox5 |
A |
T |
2: 130,441,441 (GRCm39) |
C415* |
probably null |
Het |
| Ucn2 |
C |
T |
9: 108,815,477 (GRCm39) |
P80S |
possibly damaging |
Het |
| Vmn2r10 |
G |
A |
5: 109,143,961 (GRCm39) |
T663I |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,222 (GRCm39) |
F337L |
probably null |
Het |
| Zfp287 |
A |
T |
11: 62,605,459 (GRCm39) |
C483S |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,101,921 (GRCm39) |
|
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 |
|
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 |
|
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'- TGTAGACTTCACATCCTCCAGG -3'
(R):5'- TCCTACGCACTGGAAGTTG -3'
Sequencing Primer
(F):5'- TGCTGGCAAGAGACTCCCAG -3'
(R):5'- AACAGTTTTGCCCCATCGTAGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation