Incidental Mutation 'R0058:Tspear'
ID 16864
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 038352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0058 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 77522403-77722855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77705465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 288 (F288L)
Ref Sequence ENSEMBL: ENSMUSP00000090020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366]
AlphaFold J3S6Y1
Predicted Effect probably benign
Transcript: ENSMUST00000092366
AA Change: F288L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: F288L

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 noncoding transcript
Transcript: ENSMUST00000092368
SMART Domains Protein: ENSMUSP00000090022
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
TSPN 3 174 2.24e-5 SMART
LamG 34 173 1.09e-1 SMART
low complexity region 293 303 N/A INTRINSIC
Pfam:EPTP 311 357 3.4e-20 PFAM
Pfam:EPTP 362 409 4.9e-23 PFAM
Pfam:EPTP 414 461 3.1e-15 PFAM
Pfam:EPTP 464 519 2.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125241
Meta Mutation Damage Score 0.1355 question?
Coding Region Coverage
  • 1x: 87.4%
  • 3x: 82.9%
  • 10x: 66.9%
  • 20x: 41.4%
Validation Efficiency 85% (62/73)
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
Adgrv1 A G 13: 81,330,791 (GRCm39) V6088A possibly damaging Het
Ankrd36 A G 11: 5,580,691 (GRCm39) probably benign Het
Anxa1 A T 19: 20,361,141 (GRCm39) Y84N probably damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Avpr1b A G 1: 131,527,524 (GRCm39) T16A probably benign Het
Cables1 A G 18: 12,056,470 (GRCm39) E316G possibly damaging Het
Cadm1 A T 9: 47,761,629 (GRCm39) I427L probably damaging Het
Dazap1 T C 10: 80,097,415 (GRCm39) probably benign Het
Dip2b A G 15: 100,113,121 (GRCm39) E1512G probably benign Het
Dock1 G A 7: 134,710,490 (GRCm39) V1171M possibly damaging Het
Dock5 A T 14: 68,018,485 (GRCm39) F1230Y probably benign Het
Dst T C 1: 34,045,305 (GRCm39) S13P possibly damaging Het
Dym G A 18: 75,176,243 (GRCm39) E15K possibly damaging Het
Faf1 A G 4: 109,593,821 (GRCm39) Q133R probably benign Het
Fcer2a T C 8: 3,738,111 (GRCm39) probably benign Het
Fmo2 A T 1: 162,713,893 (GRCm39) S204R probably benign Het
Ghitm A G 14: 36,853,549 (GRCm39) L97P probably damaging Het
Gins4 A G 8: 23,719,526 (GRCm39) probably benign Het
Gm10573 G A 4: 121,754,005 (GRCm39) Het
Golga3 T A 5: 110,350,643 (GRCm39) F766Y possibly damaging Het
Hapln1 T C 13: 89,755,997 (GRCm39) I267T probably benign Het
Helz A T 11: 107,563,384 (GRCm39) probably benign Het
Igll1 A T 16: 16,681,740 (GRCm39) V5E probably benign Het
Kif16b A G 2: 142,699,225 (GRCm39) probably null Het
Limk1 A T 5: 134,688,725 (GRCm39) W507R probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mtif3 C A 5: 146,893,731 (GRCm39) V159F probably benign Het
Ncoa7 T A 10: 30,523,537 (GRCm39) D887V probably damaging Het
Pkd1 G C 17: 24,783,677 (GRCm39) A162P probably benign Het
Plce1 A G 19: 38,513,628 (GRCm39) D309G possibly damaging Het
Plk4 T C 3: 40,760,307 (GRCm39) V401A probably benign Het
Prrc2c C T 1: 162,526,453 (GRCm39) V253I unknown Het
Ranbp2 T A 10: 58,316,353 (GRCm39) S2358T probably damaging Het
Setd2 T A 9: 110,423,494 (GRCm39) V2183E probably damaging Het
Sgsm1 T A 5: 113,432,953 (GRCm39) S232C probably damaging Het
Skint6 A T 4: 112,904,012 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,574,909 (GRCm39) I531T probably benign Het
Slc36a1 C T 11: 55,112,820 (GRCm39) probably benign Het
Sptan1 T C 2: 29,883,708 (GRCm39) probably null Het
Tex15 C T 8: 34,071,530 (GRCm39) probably benign Het
Tlr9 T G 9: 106,102,164 (GRCm39) L485R possibly damaging Het
Tmem207 A G 16: 26,343,579 (GRCm39) probably benign Het
Triml2 T C 8: 43,638,306 (GRCm39) probably benign Het
Zfp644 A T 5: 106,784,869 (GRCm39) S559R 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
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
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 2013-01-20