Incidental Mutation 'IGL02653:Tspear'
ID302253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspear
Ensembl Gene ENSMUSG00000069581
Gene Namethrombospondin type laminin G domain and EAR repeats
SynonymsC330046G03Rik, ORF65
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02653
Quality Score
Status
Chromosome10
Chromosomal Location77686569-77887021 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 77706965 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092371]
Predicted Effect probably benign
Transcript: ENSMUST00000075421
SMART Domains Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 2.6e-8 PFAM
Pfam:Keratin_B2_2 29 74 9.2e-10 PFAM
low complexity region 92 105 N/A INTRINSIC
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: ENSMUST00000092371
SMART Domains Protein: ENSMUSP00000090025
Gene: ENSMUSG00000069584

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 1.8e-7 PFAM
Pfam:Keratin_B2_2 40 83 3.7e-7 PFAM
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,115,767 probably benign Het
Alox5 T A 6: 116,415,477 H361L probably benign Het
Arid2 A G 15: 96,287,702 N3S probably damaging Het
Atp1a4 T A 1: 172,251,406 I182F possibly damaging Het
Ctnna2 A T 6: 76,980,777 D496E probably benign Het
Cyp3a25 G T 5: 146,003,110 S29Y possibly damaging Het
Dglucy G A 12: 100,871,431 G611D probably benign Het
Efcab5 T C 11: 77,132,022 K622E probably damaging Het
Esyt1 T A 10: 128,511,008 I1071L probably benign Het
Fbn2 T C 18: 58,076,705 K1035E probably benign Het
Frem1 T G 4: 82,959,334 E1335D probably benign Het
Gm5900 A G 7: 104,950,133 noncoding transcript Het
Ikbke T A 1: 131,271,835 Q283L possibly damaging Het
Lepr A T 4: 101,764,944 I358F probably benign Het
Lnpk A G 2: 74,548,048 V123A probably damaging Het
Mis12 A G 11: 71,025,531 K130R probably damaging Het
Ncapg2 T A 12: 116,425,906 probably null Het
Npy6r T C 18: 44,276,627 *372Q probably null Het
Polr3d T C 14: 70,440,117 D273G probably damaging Het
Ppp2r3a A G 9: 101,211,693 V477A probably benign Het
Prpf19 T A 19: 10,902,964 probably benign Het
Pwwp2a A G 11: 43,706,035 T676A possibly damaging Het
Ralgapb T A 2: 158,443,309 I242N probably damaging Het
Scn3a A T 2: 65,461,187 S1738R probably damaging Het
Snapc1 C A 12: 73,982,487 P348Q probably benign Het
Spert T C 14: 75,583,157 D385G probably damaging Het
Tbc1d7 T C 13: 43,165,398 I88V probably benign Het
Tnks2 T C 19: 36,872,451 S220P probably damaging Het
Trim56 A T 5: 137,112,906 S585R probably damaging Het
Trpm2 T G 10: 77,912,669 E1389A probably benign Het
Vmn1r180 T C 7: 23,953,075 I221T probably damaging Het
Vmn1r204 A C 13: 22,556,630 I144L probably benign Het
Vmn2r20 A T 6: 123,385,365 I820N probably damaging Het
Vwa3b T A 1: 37,175,565 probably benign Het
Wnt1 G A 15: 98,792,455 G222R probably damaging Het
Zadh2 T C 18: 84,095,318 V373A possibly damaging Het
Other mutations in Tspear
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Tspear APN 10 77873236 missense probably benign 0.30
IGL01726:Tspear APN 10 77881287 intron probably benign
IGL02244:Tspear APN 10 77852856 unclassified probably benign
IGL02393:Tspear APN 10 77836573 missense probably damaging 1.00
IGL02502:Tspear APN 10 77852958 intron probably benign
IGL03345:Tspear APN 10 77874882 splice site probably null
R0058:Tspear UTSW 10 77869631 missense probably benign 0.07
R0058:Tspear UTSW 10 77869631 missense probably benign 0.07
R0542:Tspear UTSW 10 77881087 missense probably benign 0.14
R1384:Tspear UTSW 10 77866332 missense probably benign 0.44
R1467:Tspear UTSW 10 77881192 missense probably damaging 1.00
R1467:Tspear UTSW 10 77881192 missense probably damaging 1.00
R1545:Tspear UTSW 10 77870419 missense possibly damaging 0.48
R1625:Tspear UTSW 10 77870499 missense probably benign 0.20
R1635:Tspear UTSW 10 77870419 missense possibly damaging 0.48
R1636:Tspear UTSW 10 77870419 missense possibly damaging 0.48
R1637:Tspear UTSW 10 77870419 missense possibly damaging 0.48
R1744:Tspear UTSW 10 77864884 unclassified probably null
R1749:Tspear UTSW 10 77869673 missense probably benign 0.00
R1768:Tspear UTSW 10 77875116 critical splice donor site probably null
R1774:Tspear UTSW 10 77873185 missense probably benign 0.01
R1791:Tspear UTSW 10 77870419 missense possibly damaging 0.48
R1892:Tspear UTSW 10 77870474 missense probably benign 0.00
R2014:Tspear UTSW 10 77875120 splice site probably benign
R2108:Tspear UTSW 10 77870419 missense possibly damaging 0.48
R2248:Tspear UTSW 10 77873269 missense probably damaging 1.00
R3038:Tspear UTSW 10 77886439 nonsense probably null
R4010:Tspear UTSW 10 77836476 intron probably benign
R4661:Tspear UTSW 10 77866329 missense probably benign 0.24
R4734:Tspear UTSW 10 77864695 missense probably damaging 0.99
R4789:Tspear UTSW 10 77866365 missense possibly damaging 0.63
R4804:Tspear UTSW 10 77776957 unclassified probably null
R4904:Tspear UTSW 10 77869655 missense possibly damaging 0.93
R4937:Tspear UTSW 10 77875043 missense probably damaging 0.98
R4956:Tspear UTSW 10 77864767 missense possibly damaging 0.86
R5590:Tspear UTSW 10 77870365 missense probably benign
R6344:Tspear UTSW 10 77875013 missense possibly damaging 0.95
R6629:Tspear UTSW 10 77870509 missense probably benign 0.08
R7611:Tspear UTSW 10 77881215 missense probably benign 0.01
Posted On2015-04-16