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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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