Incidental Mutation 'R1744:Tspear'
| ID |
200597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspear
|
| Ensembl Gene |
ENSMUSG00000069581 |
| Gene Name |
thrombospondin type laminin G domain and EAR repeats |
| Synonyms |
C330046G03Rik, ORF65 |
| MMRRC Submission |
039776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1744 (G1)
|
| Quality Score |
140 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77522403-77722855 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2002 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 77700718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092366]
[ENSMUST00000092366]
[ENSMUST00000092366]
[ENSMUST00000218443]
|
| AlphaFold |
J3S6Y1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092366
|
| SMART Domains |
Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TSPN
|
1 |
71 |
8e-40 |
BLAST |
|
SCOP:d1c4ra_
|
2 |
67 |
2e-7 |
SMART |
|
low complexity region
|
190 |
200 |
N/A |
INTRINSIC |
|
Pfam:EPTP
|
208 |
255 |
2.6e-22 |
PFAM |
|
Pfam:EPTP
|
260 |
307 |
1.4e-21 |
PFAM |
|
Pfam:EPTP
|
312 |
359 |
8.9e-14 |
PFAM |
|
Pfam:EPTP
|
362 |
417 |
6.2e-13 |
PFAM |
|
Pfam:EPTP
|
422 |
469 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092366
|
| SMART Domains |
Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TSPN
|
1 |
71 |
8e-40 |
BLAST |
|
SCOP:d1c4ra_
|
2 |
67 |
2e-7 |
SMART |
|
low complexity region
|
190 |
200 |
N/A |
INTRINSIC |
|
Pfam:EPTP
|
208 |
255 |
2.6e-22 |
PFAM |
|
Pfam:EPTP
|
260 |
307 |
1.4e-21 |
PFAM |
|
Pfam:EPTP
|
312 |
359 |
8.9e-14 |
PFAM |
|
Pfam:EPTP
|
362 |
417 |
6.2e-13 |
PFAM |
|
Pfam:EPTP
|
422 |
469 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092366
|
| SMART Domains |
Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TSPN
|
1 |
71 |
8e-40 |
BLAST |
|
SCOP:d1c4ra_
|
2 |
67 |
2e-7 |
SMART |
|
low complexity region
|
190 |
200 |
N/A |
INTRINSIC |
|
Pfam:EPTP
|
208 |
255 |
2.6e-22 |
PFAM |
|
Pfam:EPTP
|
260 |
307 |
1.4e-21 |
PFAM |
|
Pfam:EPTP
|
312 |
359 |
8.9e-14 |
PFAM |
|
Pfam:EPTP
|
362 |
417 |
6.2e-13 |
PFAM |
|
Pfam:EPTP
|
422 |
469 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000092368
|
| SMART Domains |
Protein: ENSMUSP00000090022
Gene: ENSMUSG00000069581
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
3 |
174 |
2.24e-5 |
SMART |
|
LamG
|
34 |
173 |
1.09e-1 |
SMART |
|
low complexity region
|
293 |
303 |
N/A |
INTRINSIC |
|
Pfam:EPTP
|
311 |
357 |
3.4e-20 |
PFAM |
|
Pfam:EPTP
|
362 |
409 |
4.9e-23 |
PFAM |
|
Pfam:EPTP
|
414 |
461 |
3.1e-15 |
PFAM |
|
Pfam:EPTP
|
464 |
519 |
2.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125241
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218443
|
| Meta Mutation Damage Score |
0.9488 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,942,267 (GRCm39) |
E1247G |
probably damaging |
Het |
| Bcl2l15 |
T |
A |
3: 103,745,856 (GRCm39) |
L165Q |
probably damaging |
Het |
| Cd163 |
C |
A |
6: 124,283,987 (GRCm39) |
A53E |
possibly damaging |
Het |
| Cemip2 |
C |
A |
19: 21,809,501 (GRCm39) |
Y960* |
probably null |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,452,596 (GRCm39) |
A629D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,957,631 (GRCm39) |
S463R |
probably benign |
Het |
| Cth |
C |
G |
3: 157,611,905 (GRCm39) |
R304P |
probably damaging |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,142 (GRCm39) |
V177A |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,216,396 (GRCm39) |
R189W |
probably damaging |
Het |
| Dennd2a |
A |
T |
6: 39,457,185 (GRCm39) |
F752L |
probably benign |
Het |
| Gabrp |
A |
T |
11: 33,522,462 (GRCm39) |
V28E |
probably benign |
Het |
| Gpam |
T |
C |
19: 55,063,023 (GRCm39) |
E763G |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,903,885 (GRCm39) |
R266C |
probably benign |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,762,928 (GRCm39) |
K281E |
probably damaging |
Het |
| Lbx1 |
T |
C |
19: 45,222,652 (GRCm39) |
K124E |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 34,019,911 (GRCm39) |
|
probably null |
Het |
| Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,646 (GRCm39) |
I140K |
probably damaging |
Het |
| Mcemp1 |
G |
A |
8: 3,716,054 (GRCm39) |
A20T |
probably damaging |
Het |
| Met |
T |
C |
6: 17,540,645 (GRCm39) |
V137A |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,407,206 (GRCm39) |
F624S |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,623,390 (GRCm39) |
I29T |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,458,062 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
G |
A |
5: 124,252,219 (GRCm39) |
|
probably null |
Het |
| Or6c69 |
A |
C |
10: 129,747,262 (GRCm39) |
V295G |
probably damaging |
Het |
| Or8g4 |
A |
C |
9: 39,661,711 (GRCm39) |
T10P |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,726,999 (GRCm39) |
|
probably benign |
Het |
| Otud3 |
A |
C |
4: 138,623,059 (GRCm39) |
L394R |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,541,546 (GRCm39) |
V12A |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,906 (GRCm39) |
I173V |
possibly damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,278 (GRCm39) |
C263R |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 66,996,361 (GRCm39) |
Y1242C |
probably damaging |
Het |
| Retsat |
C |
T |
6: 72,583,558 (GRCm39) |
R84* |
probably null |
Het |
| Rif1 |
G |
A |
2: 52,002,404 (GRCm39) |
V1953I |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 51,999,475 (GRCm39) |
N1137K |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,152,620 (GRCm39) |
H787R |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,329,198 (GRCm39) |
E939G |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,783,807 (GRCm39) |
G247D |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,923,219 (GRCm39) |
S509P |
probably damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,000,770 (GRCm39) |
I278T |
probably damaging |
Het |
| Slc6a20a |
C |
T |
9: 123,492,058 (GRCm39) |
V104I |
probably benign |
Het |
| Sp110 |
G |
C |
1: 85,522,093 (GRCm39) |
T70S |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stxbp1 |
A |
G |
2: 32,696,731 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
C |
5: 125,855,908 (GRCm39) |
|
probably null |
Het |
| Tnfsf13b |
G |
A |
8: 10,081,661 (GRCm39) |
|
probably null |
Het |
| Trappc6a |
A |
G |
7: 19,248,154 (GRCm39) |
E38G |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,609 (GRCm39) |
D857G |
probably damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,910 (GRCm39) |
N289K |
possibly damaging |
Het |
| Zcchc8 |
G |
A |
5: 123,838,436 (GRCm39) |
Q701* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,004,871 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tspear |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Tspear
|
APN |
10 |
77,709,070 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01726:Tspear
|
APN |
10 |
77,717,121 (GRCm39) |
intron |
probably benign |
|
|
IGL02244:Tspear
|
APN |
10 |
77,688,690 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02393:Tspear
|
APN |
10 |
77,672,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02502:Tspear
|
APN |
10 |
77,688,792 (GRCm39) |
intron |
probably benign |
|
|
IGL02653:Tspear
|
APN |
10 |
77,542,799 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03345:Tspear
|
APN |
10 |
77,710,716 (GRCm39) |
splice site |
probably null |
|
|
R0058:Tspear
|
UTSW |
10 |
77,705,465 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0058:Tspear
|
UTSW |
10 |
77,705,465 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0542:Tspear
|
UTSW |
10 |
77,716,921 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1384:Tspear
|
UTSW |
10 |
77,702,166 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1467:Tspear
|
UTSW |
10 |
77,717,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Tspear
|
UTSW |
10 |
77,717,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1625:Tspear
|
UTSW |
10 |
77,706,333 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1635:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1636:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1637:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1749:Tspear
|
UTSW |
10 |
77,705,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1768:Tspear
|
UTSW |
10 |
77,710,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1774:Tspear
|
UTSW |
10 |
77,709,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1791:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1892:Tspear
|
UTSW |
10 |
77,706,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2014:Tspear
|
UTSW |
10 |
77,710,954 (GRCm39) |
splice site |
probably benign |
|
|
R2108:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2248:Tspear
|
UTSW |
10 |
77,709,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Tspear
|
UTSW |
10 |
77,722,273 (GRCm39) |
nonsense |
probably null |
|
|
R4010:Tspear
|
UTSW |
10 |
77,672,310 (GRCm39) |
intron |
probably benign |
|
|
R4661:Tspear
|
UTSW |
10 |
77,702,163 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4734:Tspear
|
UTSW |
10 |
77,700,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4789:Tspear
|
UTSW |
10 |
77,702,199 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4804:Tspear
|
UTSW |
10 |
77,612,791 (GRCm39) |
splice site |
probably null |
|
|
R4904:Tspear
|
UTSW |
10 |
77,705,489 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4937:Tspear
|
UTSW |
10 |
77,710,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4956:Tspear
|
UTSW |
10 |
77,700,601 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5590:Tspear
|
UTSW |
10 |
77,706,199 (GRCm39) |
missense |
probably benign |
|
|
R6344:Tspear
|
UTSW |
10 |
77,710,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6629:Tspear
|
UTSW |
10 |
77,706,343 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7611:Tspear
|
UTSW |
10 |
77,717,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8507:Tspear
|
UTSW |
10 |
77,710,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8811:Tspear
|
UTSW |
10 |
77,665,463 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8856:Tspear
|
UTSW |
10 |
77,665,471 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTCCTGTTTCTCAGCGAGGAC -3'
(R):5'- TCCAAGTAGGTGGTTTGTGACCCC -3'
Sequencing Primer
(F):5'- CTCAGCGAGGACCTGGC -3'
(R):5'- GACTTGATAATAGAAGCCTGTCTCCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation