Incidental Mutation 'R1768:Tspear'
ID 194609
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 039799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1768 (G1)
Quality Score 213
Status Validated
Chromosome 10
Chromosomal Location 77522403-77722855 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 77710950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366]
AlphaFold J3S6Y1
Predicted Effect probably null
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 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
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 91% (107/117)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,623,470 (GRCm39) R60P possibly damaging Het
Aox1 T A 1: 58,393,354 (GRCm39) C1199S probably benign Het
Arhgap18 G A 10: 26,763,857 (GRCm39) M482I probably damaging Het
Arhgap18 G T 10: 26,763,858 (GRCm39) A483S probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
BC051019 T C 7: 109,322,381 (GRCm39) T38A probably benign Het
Bcam T C 7: 19,499,543 (GRCm39) N192S probably null Het
Bend5 A T 4: 111,311,438 (GRCm39) K351* probably null Het
Bicdl2 T A 17: 23,884,923 (GRCm39) M208K probably damaging Het
Ccp110 A T 7: 118,325,247 (GRCm39) probably null Het
Cdc6 A T 11: 98,803,043 (GRCm39) T328S probably damaging Het
Cdk5rap2 G T 4: 70,225,470 (GRCm39) N558K probably benign Het
Cdkn1c C T 7: 143,012,858 (GRCm39) R146K probably benign Het
Ceacam18 G A 7: 43,297,918 (GRCm39) C371Y probably benign Het
Cep95 T A 11: 106,697,177 (GRCm39) C233* probably null Het
Chrnd A G 1: 87,122,650 (GRCm39) I144V probably benign Het
Col6a4 T A 9: 105,957,299 (GRCm39) Q175L probably benign Het
Cym A T 3: 107,120,816 (GRCm39) V263E probably damaging Het
Cyp2a4 G T 7: 26,012,197 (GRCm39) V327F possibly damaging Het
Dhx29 T A 13: 113,084,774 (GRCm39) M664K probably damaging Het
Dlec1 T G 9: 118,975,075 (GRCm39) probably null Het
Dna2 T C 10: 62,792,863 (GRCm39) Y293H probably benign Het
Dnase1l3 T A 14: 7,974,104 (GRCm38) N196Y probably damaging Het
Eea1 T A 10: 95,832,822 (GRCm39) D222E probably damaging Het
Efcab14 A T 4: 115,610,116 (GRCm39) probably null Het
Entpd5 C T 12: 84,432,985 (GRCm39) R189H probably benign Het
Exoc4 A T 6: 33,734,985 (GRCm39) K534M probably damaging Het
Extl1 T A 4: 134,098,449 (GRCm39) Y194F probably benign Het
Eya1 A G 1: 14,323,299 (GRCm39) L161S possibly damaging Het
Fam163b T C 2: 27,002,874 (GRCm39) E41G possibly damaging Het
Fam180a A C 6: 35,292,287 (GRCm39) S40A probably benign Het
Fbxl4 T C 4: 22,385,950 (GRCm39) S186P probably benign Het
Fbxw19 A T 9: 109,323,840 (GRCm39) L45* probably null Het
Fgf14 G T 14: 124,913,924 (GRCm39) T69N probably benign Het
Flt1 A G 5: 147,609,519 (GRCm39) Y432H probably damaging Het
Frmd4b A T 6: 97,283,725 (GRCm39) L374Q possibly damaging Het
G6pc2 T A 2: 69,053,321 (GRCm39) V125D probably damaging Het
Gm10033 T C 8: 69,826,210 (GRCm39) I119M unknown Het
Gna15 A T 10: 81,347,954 (GRCm39) L164Q probably damaging Het
Gnaz C A 10: 74,827,702 (GRCm39) D151E possibly damaging Het
Has1 T C 17: 18,070,562 (GRCm39) T120A probably benign Het
Hectd4 T A 5: 121,496,366 (GRCm39) D3919E possibly damaging Het
Hs3st5 A G 10: 36,709,165 (GRCm39) I233M probably benign Het
Ilf3 T C 9: 21,314,438 (GRCm39) probably benign Het
Inpp5b T A 4: 124,687,069 (GRCm39) L765* probably null Het
Insr A T 8: 3,209,561 (GRCm39) I1174N probably damaging Het
Kash5 T A 7: 44,838,227 (GRCm39) probably null Het
Kcnq3 A G 15: 65,877,755 (GRCm39) L445P probably damaging Het
Kctd20 A T 17: 29,181,824 (GRCm39) N159Y probably damaging Het
Kctd20 A T 17: 29,185,755 (GRCm39) D366V probably damaging Het
Klk15 T C 7: 43,587,757 (GRCm39) probably benign Het
Lama4 T G 10: 38,979,497 (GRCm39) N1658K possibly damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mas1 T C 17: 13,060,586 (GRCm39) Y279C probably damaging Het
Mast2 G T 4: 116,164,156 (GRCm39) D1747E probably damaging Het
Mest G A 6: 30,745,138 (GRCm39) M235I probably benign Het
Mfsd6 A G 1: 52,699,964 (GRCm39) probably null Het
Mllt10 T A 2: 18,167,657 (GRCm39) S449R probably damaging Het
Mon2 T A 10: 122,849,668 (GRCm39) T1211S probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Myh15 A T 16: 48,983,498 (GRCm39) T1538S probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Npy1r A G 8: 67,157,177 (GRCm39) D199G possibly damaging Het
Numbl A G 7: 26,980,379 (GRCm39) T454A probably benign Het
Nutm2 T G 13: 50,627,152 (GRCm39) F436V probably damaging Het
Opa1 T C 16: 29,439,628 (GRCm39) S773P probably benign Het
Or12e1 T A 2: 87,022,042 (GRCm39) S4T probably benign Het
Or2d3 A T 7: 106,491,184 (GRCm39) probably null Het
Or2d3 G T 7: 106,491,185 (GRCm39) L44M probably damaging Het
Or2r11 A G 6: 42,437,611 (GRCm39) L114S probably damaging Het
Or2t48 A G 11: 58,420,602 (GRCm39) L70P probably damaging Het
Or51b17 A G 7: 103,542,484 (GRCm39) S153P probably benign Het
Or51m1 C T 7: 103,578,932 (GRCm39) R301* probably null Het
Or52e7 A G 7: 104,685,157 (GRCm39) S251G probably benign Het
Or52i2 A G 7: 102,319,508 (GRCm39) Y127C probably damaging Het
Or8b12c T A 9: 37,715,599 (GRCm39) Y131N probably damaging Het
Pde8a G C 7: 80,950,471 (GRCm39) probably null Het
Pgam1 T C 19: 41,906,144 (GRCm39) F232S probably damaging Het
Pgk1 T A X: 105,243,914 (GRCm39) V303E possibly damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Plxnc1 C T 10: 94,680,184 (GRCm39) V824I probably benign Het
Ppp6r1 A G 7: 4,636,691 (GRCm39) probably null Het
Rapgef4 C A 2: 72,056,131 (GRCm39) probably benign Het
Rars1 T A 11: 35,700,465 (GRCm39) T539S probably damaging Het
Rbm44 G T 1: 91,081,679 (GRCm39) probably null Het
Samd4b A G 7: 28,113,317 (GRCm39) I216T probably benign Het
Serpine2 A C 1: 79,794,532 (GRCm39) F134V probably damaging Het
Shmt1 A G 11: 60,683,790 (GRCm39) Y341H probably damaging Het
Slc23a2 C A 2: 131,917,561 (GRCm39) V226F probably benign Het
Slc23a4 A G 6: 34,933,896 (GRCm39) I69T probably damaging Het
Slc37a1 C A 17: 31,552,652 (GRCm39) T319K possibly damaging Het
Slc6a4 A T 11: 76,904,078 (GRCm39) T178S probably damaging Het
Smarca4 G A 9: 21,612,479 (GRCm39) A1588T possibly damaging Het
Spag17 A T 3: 99,934,668 (GRCm39) Y650F possibly damaging Het
Stab2 C T 10: 86,838,872 (GRCm39) G65S probably damaging Het
Stambpl1 C G 19: 34,204,121 (GRCm39) N70K probably damaging Het
Stip1 C A 19: 6,999,165 (GRCm39) C471F probably damaging Het
Taf1 T C X: 100,584,500 (GRCm39) S223P probably benign Het
Tchh C A 3: 93,350,882 (GRCm39) N107K possibly damaging Het
Tenm3 A C 8: 48,685,139 (GRCm39) H2432Q probably damaging Het
Tmem243 A G 5: 9,168,548 (GRCm39) N110S probably damaging Het
Toe1 A T 4: 116,662,076 (GRCm39) I306F probably benign Het
Trank1 G A 9: 111,221,995 (GRCm39) V2911M probably damaging Het
Trpm4 A G 7: 44,958,036 (GRCm39) I811T probably damaging Het
Ttc28 A T 5: 111,425,034 (GRCm39) I1589F possibly damaging Het
Tubgcp3 A G 8: 12,699,686 (GRCm39) probably benign Het
U2af2 C A 7: 5,070,544 (GRCm39) R78S probably benign Het
Wdr17 A T 8: 55,126,689 (GRCm39) D388E possibly damaging Het
Wdr3 A T 3: 100,061,186 (GRCm39) S261T probably benign Het
Zfp667 A G 7: 6,308,066 (GRCm39) N245D possibly damaging Het
Zfp692 A G 11: 58,201,002 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,370 (GRCm39) H953R probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCCAATCAGTCCATTGCCACGTC -3'
(R):5'- TGCAGTCTCGTTTGCTTCAAAGCTC -3'

Sequencing Primer
(F):5'- CATTGCCACGTCGGGTG -3'
(R):5'- CACAGCTTCATAGAACATATTCCCC -3'
Posted On 2014-05-23