Incidental Mutation 'R1892:Tspear'
ID 211621
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 039912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1892 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 77522403-77722855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77706308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 359 (D359E)
Ref Sequence ENSEMBL: ENSMUSP00000090020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366]
AlphaFold J3S6Y1
Predicted Effect probably benign
Transcript: ENSMUST00000092366
AA Change: D359E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: D359E

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Adat3 T C 10: 80,442,249 (GRCm39) L29P probably damaging Het
AI987944 A T 7: 41,024,020 (GRCm39) C320S probably damaging Het
Asic4 C T 1: 75,446,126 (GRCm39) R285W probably damaging Het
Asic5 A T 3: 81,928,293 (GRCm39) I419L probably damaging Het
Batf A G 12: 85,736,102 (GRCm39) K42E probably damaging Het
Bcar3 A G 3: 122,301,785 (GRCm39) N160S probably benign Het
Bco2 C A 9: 50,461,863 (GRCm39) G47V probably damaging Het
Bicc1 T G 10: 70,794,614 (GRCm39) K181T probably damaging Het
Brinp2 A G 1: 158,082,542 (GRCm39) probably null Het
Cacng8 A G 7: 3,463,568 (GRCm39) D240G possibly damaging Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cdh1 A T 8: 107,390,882 (GRCm39) K666I possibly damaging Het
Cdh16 A T 8: 105,344,631 (GRCm39) I500N possibly damaging Het
Chst14 A G 2: 118,757,830 (GRCm39) Y208C probably damaging Het
Chst9 T C 18: 15,586,017 (GRCm39) H182R probably damaging Het
Clk2 A G 3: 89,082,502 (GRCm39) I367M possibly damaging Het
Cobl G C 11: 12,203,258 (GRCm39) S1066W probably damaging Het
Ctcfl A G 2: 172,960,478 (GRCm39) V35A probably benign Het
Dchs1 G T 7: 105,413,363 (GRCm39) H1151N probably benign Het
Dennd1c T C 17: 57,374,083 (GRCm39) T529A probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dync1h1 A G 12: 110,612,738 (GRCm39) Y2871C probably damaging Het
Dytn T C 1: 63,716,420 (GRCm39) E51G probably benign Het
Esd C T 14: 74,987,113 (GRCm39) A266V probably damaging Het
Gli1 T C 10: 127,165,975 (GRCm39) M1093V possibly damaging Het
Gm15446 A G 5: 110,091,253 (GRCm39) K502E probably damaging Het
Gm4076 T A 13: 85,275,447 (GRCm39) noncoding transcript Het
Gm9830 A G 9: 44,375,825 (GRCm39) noncoding transcript Het
Gm9938 G A 19: 23,701,955 (GRCm39) probably benign Het
Grhl1 G A 12: 24,634,909 (GRCm39) R245H probably damaging Het
Hnrnpul1 A T 7: 25,426,191 (GRCm39) D553E probably benign Het
Hpn G A 7: 30,798,468 (GRCm39) Q415* probably null Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il1rl2 A G 1: 40,366,694 (GRCm39) H76R probably damaging Het
Insrr G A 3: 87,721,184 (GRCm39) V1112M probably damaging Het
Ints9 T C 14: 65,257,872 (GRCm39) S351P probably benign Het
Itgav T A 2: 83,601,680 (GRCm39) N350K probably damaging Het
Kdm4d C A 9: 14,375,613 (GRCm39) V82L probably benign Het
Klc1 T C 12: 111,748,261 (GRCm39) probably null Het
Kmt5c T A 7: 4,745,714 (GRCm39) C69* probably null Het
Lgals3 T G 14: 47,622,164 (GRCm39) N193K possibly damaging Het
Morc2b T A 17: 33,354,748 (GRCm39) D1008V probably damaging Het
Mpg C T 11: 32,181,720 (GRCm39) Q243* probably null Het
Muc15 C T 2: 110,567,697 (GRCm39) R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nek5 A G 8: 22,597,745 (GRCm39) M278T probably benign Het
Npas2 A G 1: 39,384,503 (GRCm39) T599A probably benign Het
Nrf1 A G 6: 30,144,787 (GRCm39) D519G probably null Het
Nup43 A G 10: 7,549,373 (GRCm39) H176R probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or10j3 T C 1: 173,031,795 (GRCm39) Y291H probably damaging Het
Or5p72 A T 7: 108,022,147 (GRCm39) Y123F possibly damaging Het
Or6c75 A C 10: 129,336,902 (GRCm39) I50L probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Pik3ip1 G T 11: 3,283,304 (GRCm39) A135S probably damaging Het
Pira13 A C 7: 3,827,573 (GRCm39) C195G probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Prepl A G 17: 85,395,878 (GRCm39) Y35H possibly damaging Het
Ptpn13 A G 5: 103,649,545 (GRCm39) Y316C possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Ranbp2 T C 10: 58,299,921 (GRCm39) V491A probably benign Het
Ranbp9 C A 13: 43,569,933 (GRCm39) C495F possibly damaging Het
Rfx8 A T 1: 39,709,746 (GRCm39) probably null Het
Rnf111 T A 9: 70,383,656 (GRCm39) K92N probably damaging Het
Rtn1 A G 12: 72,259,337 (GRCm39) I772T probably damaging Het
Ryr2 T A 13: 11,673,844 (GRCm39) K72* probably null Het
Sergef A T 7: 46,264,040 (GRCm39) probably null Het
Sez6l T C 5: 112,620,665 (GRCm39) N305S probably damaging Het
Slc40a1 A T 1: 45,950,302 (GRCm39) C383* probably null Het
Stab2 C T 10: 86,773,913 (GRCm39) C806Y probably damaging Het
Stard9 A G 2: 120,524,189 (GRCm39) T795A probably benign Het
Stk31 T C 6: 49,415,408 (GRCm39) I536T probably damaging Het
Stox1 T A 10: 62,501,178 (GRCm39) T461S possibly damaging Het
Suv39h2 T C 2: 3,460,805 (GRCm39) Y219C probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Tbc1d2b T A 9: 90,100,996 (GRCm39) I665F probably damaging Het
Tdrd6 T C 17: 43,935,696 (GRCm39) N1784S probably benign Het
Tmem14c T C 13: 41,174,633 (GRCm39) F81L possibly damaging Het
Tnrc6c A G 11: 117,605,188 (GRCm39) N108D probably benign Het
Tox3 A T 8: 90,996,869 (GRCm39) N131K probably benign Het
Ttc9 A G 12: 81,678,551 (GRCm39) I125V probably benign Het
Ttn A T 2: 76,728,531 (GRCm39) probably benign Het
Ubn2 C T 6: 38,468,226 (GRCm39) S980F probably damaging Het
Vcf1 G T 11: 113,554,212 (GRCm39) P161H probably damaging Het
Zfp362 T A 4: 128,684,057 (GRCm39) T30S probably benign Het
Zfp385c A C 11: 100,528,630 (GRCm39) H32Q probably damaging Het
Zfp870 A T 17: 33,102,863 (GRCm39) H156Q possibly damaging Het
Zfp873 T C 10: 81,897,080 (GRCm39) C641R probably damaging Het
Zfp950 A T 19: 61,107,549 (GRCm39) H511Q 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
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
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'- CCTATGCACACTGACTAGGTCC -3'
(R):5'- ACAGTCATCCCTCCTAGCAAGG -3'

Sequencing Primer
(F):5'- ACTGACTAGGTCCCCATCC -3'
(R):5'- AAGCCCAAGAGATGCTTTGACTTG -3'
Posted On 2014-06-30