Incidental Mutation 'IGL02393:Tspear'
ID |
293902 |
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 # |
IGL02393
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
77522403-77722855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 77672407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 202
(R202H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151569
(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 |
probably damaging
Transcript: ENSMUST00000218843
AA Change: R192H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220393
AA Change: R202H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
probably 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 |
|
IGL02244:Tspear
|
APN |
10 |
77,688,690 (GRCm39) |
unclassified |
probably benign |
|
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 |