Incidental Mutation 'R4010:Tspear'
ID |
311647 |
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 |
040947-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R4010 (G1)
|
Quality Score |
94 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
77522403-77722855 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 77672310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092366]
[ENSMUST00000218843]
[ENSMUST00000220393]
|
AlphaFold |
J3S6Y1 |
Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000177672
AA Change: S170P
|
SMART Domains |
Protein: ENSMUSP00000137532 Gene: ENSMUSG00000096131 AA Change: S170P
Domain | Start | End | E-Value | Type |
Pfam:Keratin_B2_2
|
5 |
60 |
2.5e-8 |
PFAM |
Pfam:Keratin_B2_2
|
47 |
88 |
8.8e-11 |
PFAM |
Pfam:Keratin_B2_2
|
83 |
132 |
1.1e-8 |
PFAM |
internal_repeat_1
|
189 |
206 |
3.07e-7 |
PROSPERO |
internal_repeat_1
|
204 |
221 |
3.07e-7 |
PROSPERO |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218843
AA Change: S160P
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220393
AA Change: S170P
|
Meta Mutation Damage Score |
0.1502 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (43/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
C |
5: 88,120,136 (GRCm39) |
S298P |
probably damaging |
Het |
Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,818,303 (GRCm39) |
N1263S |
possibly damaging |
Het |
Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,286,169 (GRCm39) |
T793A |
possibly damaging |
Het |
Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,407,569 (GRCm39) |
D360V |
possibly damaging |
Het |
Ddx60 |
A |
T |
8: 62,409,178 (GRCm39) |
M405L |
probably benign |
Het |
Frmd6 |
A |
G |
12: 70,946,327 (GRCm39) |
N585S |
probably benign |
Het |
Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
Ggt7 |
G |
A |
2: 155,342,652 (GRCm39) |
T358M |
probably benign |
Het |
Gm5435 |
G |
A |
12: 82,543,089 (GRCm39) |
|
noncoding transcript |
Het |
Gm5592 |
C |
T |
7: 40,936,052 (GRCm39) |
H185Y |
probably benign |
Het |
Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
Itgae |
T |
A |
11: 73,002,165 (GRCm39) |
C90S |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,950,131 (GRCm39) |
S1424F |
probably benign |
Het |
Map2k2 |
T |
C |
10: 80,944,769 (GRCm39) |
S94P |
probably damaging |
Het |
Marveld2 |
C |
A |
13: 100,747,936 (GRCm39) |
|
probably null |
Het |
Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
Pdcl |
T |
C |
2: 37,242,123 (GRCm39) |
Y209C |
probably damaging |
Het |
Pde6c |
A |
G |
19: 38,157,884 (GRCm39) |
E636G |
probably damaging |
Het |
Pggt1b |
A |
G |
18: 46,382,003 (GRCm39) |
Y260H |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,496 (GRCm39) |
S1610R |
possibly damaging |
Het |
Rel |
C |
T |
11: 23,711,138 (GRCm39) |
V10I |
probably benign |
Het |
Rpa2 |
T |
A |
4: 132,497,960 (GRCm39) |
|
probably null |
Het |
Rpain |
T |
G |
11: 70,863,833 (GRCm39) |
|
probably benign |
Het |
Rpl35rt |
T |
C |
1: 156,193,724 (GRCm39) |
V26A |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,794,549 (GRCm39) |
T1237A |
probably benign |
Het |
Safb |
T |
C |
17: 56,910,765 (GRCm39) |
|
probably benign |
Het |
Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,428,263 (GRCm39) |
Q2320R |
probably null |
Het |
Sh2d4a |
C |
T |
8: 68,787,799 (GRCm39) |
R302C |
probably damaging |
Het |
Slc19a2 |
T |
G |
1: 164,088,451 (GRCm39) |
S300A |
probably damaging |
Het |
Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
Strip2 |
A |
G |
6: 29,955,584 (GRCm39) |
I717V |
possibly damaging |
Het |
Supt16 |
A |
C |
14: 52,401,898 (GRCm39) |
F924C |
probably damaging |
Het |
Tekt4 |
T |
G |
17: 25,695,460 (GRCm39) |
M431R |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,317,526 (GRCm39) |
|
probably benign |
Het |
Usp39 |
C |
A |
6: 72,313,468 (GRCm39) |
A241S |
probably benign |
Het |
Vmn1r185 |
T |
A |
7: 26,311,450 (GRCm39) |
L18F |
possibly damaging |
Het |
Zfp213 |
T |
C |
17: 23,777,064 (GRCm39) |
H326R |
possibly damaging |
Het |
Zfp354c |
T |
A |
11: 50,705,771 (GRCm39) |
I435F |
probably damaging |
Het |
Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
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 |
R1744:Tspear
|
UTSW |
10 |
77,700,718 (GRCm39) |
splice site |
probably null |
|
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 |
|
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'- GTTTGCTCTGATGCTCGCAC -3'
(R):5'- GCACCTGGGGAATTCTAAAGC -3'
Sequencing Primer
(F):5'- ATGACTGCCCAGAGAGCTG -3'
(R):5'- CCTGGGGAATTCTAAAGCATGGG -3'
|
Posted On |
2015-04-29 |