Incidental Mutation 'IGL02244:Tspear'
ID |
286129 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tspear
|
Ensembl Gene |
ENSMUSG00000069581 |
Gene Name |
thrombospondin type laminin G domain and EAR repeats |
Synonyms |
C330046G03Rik, ORF65 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL02244
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
77522403-77722855 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 77688690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151667
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092366]
[ENSMUST00000186874]
[ENSMUST00000217996]
|
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 |
probably benign
Transcript: ENSMUST00000186874
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217996
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
G |
T |
16: 90,853,085 (GRCm39) |
T17K |
probably benign |
Het |
Agbl1 |
T |
C |
7: 76,416,120 (GRCm39) |
S714P |
probably damaging |
Het |
Araf |
A |
G |
X: 20,719,835 (GRCm39) |
|
probably benign |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Armc8 |
A |
T |
9: 99,365,227 (GRCm39) |
D638E |
probably benign |
Het |
Bpifb5 |
C |
T |
2: 154,067,068 (GRCm39) |
T107I |
possibly damaging |
Het |
Ces1e |
A |
C |
8: 93,938,977 (GRCm39) |
|
probably null |
Het |
Col4a3 |
C |
A |
1: 82,647,492 (GRCm39) |
|
probably benign |
Het |
Col4a5 |
A |
G |
X: 140,382,669 (GRCm39) |
|
probably benign |
Het |
Crocc |
T |
C |
4: 140,765,231 (GRCm39) |
H477R |
probably benign |
Het |
Dgkd |
C |
A |
1: 87,842,863 (GRCm39) |
N130K |
probably benign |
Het |
Dock1 |
C |
T |
7: 134,379,174 (GRCm39) |
Q634* |
probably null |
Het |
Dzip3 |
C |
T |
16: 48,801,351 (GRCm39) |
V58I |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,793,807 (GRCm39) |
|
probably benign |
Het |
Glp2r |
C |
T |
11: 67,612,817 (GRCm39) |
R379H |
probably damaging |
Het |
Kctd12b |
T |
A |
X: 152,472,330 (GRCm39) |
M120L |
probably benign |
Het |
Krt33b |
A |
G |
11: 99,916,189 (GRCm39) |
V258A |
probably benign |
Het |
Lpin1 |
T |
A |
12: 16,591,770 (GRCm39) |
N819I |
probably damaging |
Het |
Lurap1l |
T |
C |
4: 80,871,866 (GRCm39) |
S120P |
probably damaging |
Het |
Lysmd4 |
T |
C |
7: 66,875,672 (GRCm39) |
S112P |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,274,971 (GRCm39) |
K708R |
probably benign |
Het |
Nr3c1 |
T |
A |
18: 39,554,610 (GRCm39) |
|
probably benign |
Het |
Nup62cl |
G |
T |
X: 138,922,780 (GRCm39) |
N239K |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,434,210 (GRCm39) |
E1269V |
probably damaging |
Het |
Or52e7 |
C |
T |
7: 104,685,152 (GRCm39) |
T249M |
probably damaging |
Het |
Pcdh9 |
A |
C |
14: 93,564,204 (GRCm39) |
L1084R |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,955,218 (GRCm39) |
M543T |
probably benign |
Het |
Prss53 |
T |
A |
7: 127,487,964 (GRCm39) |
T173S |
possibly damaging |
Het |
Reep2 |
C |
A |
18: 34,973,807 (GRCm39) |
|
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,003 (GRCm39) |
D703G |
probably benign |
Het |
Sbf2 |
T |
G |
7: 110,159,502 (GRCm39) |
D36A |
probably damaging |
Het |
Sh3kbp1 |
C |
T |
X: 158,586,724 (GRCm39) |
R99W |
probably damaging |
Het |
Sis |
T |
A |
3: 72,863,523 (GRCm39) |
R238S |
probably benign |
Het |
Slc35e2 |
T |
A |
4: 155,703,019 (GRCm39) |
V344D |
probably damaging |
Het |
Specc1 |
G |
A |
11: 62,019,194 (GRCm39) |
V678I |
probably benign |
Het |
Supt6 |
T |
C |
11: 78,123,623 (GRCm39) |
D49G |
possibly damaging |
Het |
Tecpr1 |
G |
A |
5: 144,146,821 (GRCm39) |
A515V |
probably benign |
Het |
Tlr4 |
G |
A |
4: 66,752,298 (GRCm39) |
|
probably null |
Het |
Tmco5b |
A |
G |
2: 113,118,619 (GRCm39) |
E114G |
probably damaging |
Het |
Txlnb |
T |
A |
10: 17,719,116 (GRCm39) |
V649E |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,651,818 (GRCm39) |
|
probably benign |
Het |
Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
Het |
Vmn2r70 |
T |
A |
7: 85,214,211 (GRCm39) |
T314S |
probably benign |
Het |
Zfp938 |
G |
T |
10: 82,061,906 (GRCm39) |
T238K |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
Posted On |
2015-04-16 |