Incidental Mutation 'R8048:Tespa1'
ID 618888
Institutional Source Beutler Lab
Gene Symbol Tespa1
Ensembl Gene ENSMUSG00000034833
Gene Name thymocyte expressed, positive selection associated 1
Synonyms A430001F24Rik, Itprid3, 5830405N20Rik
MMRRC Submission 067485-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8048 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 130158696-130199338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130183208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 51 (V51D)
Ref Sequence ENSEMBL: ENSMUSP00000047284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042586] [ENSMUST00000217702] [ENSMUST00000218605]
AlphaFold Q3U132
Predicted Effect probably damaging
Transcript: ENSMUST00000042586
AA Change: V51D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833
AA Change: V51D

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
KRAP_IP3R_bind 128 292 2.24e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217702
AA Change: V51D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218605
Meta Mutation Damage Score 0.4711 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (65/65)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired late thymocyte development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,228,708 (GRCm39) L318F probably damaging Het
Alms1 T A 6: 85,618,316 (GRCm39) S2318R probably benign Het
Arhgap12 G A 18: 6,052,883 (GRCm39) T443I probably benign Het
Arhgap29 C T 3: 121,786,550 (GRCm39) R372W probably damaging Het
Astn1 T C 1: 158,516,208 (GRCm39) I1266T probably benign Het
Bsg T C 10: 79,545,580 (GRCm39) V164A probably benign Het
C1qa G T 4: 136,623,921 (GRCm39) S94R probably benign Het
Cadps2 A G 6: 23,838,862 (GRCm39) V92A probably benign Het
Ccdc187 T A 2: 26,183,526 (GRCm39) D158V possibly damaging Het
Cngb1 T A 8: 95,989,838 (GRCm39) Y758F possibly damaging Het
Ddx4 G A 13: 112,758,706 (GRCm39) A285V probably null Het
Dsg1c A T 18: 20,407,824 (GRCm39) K390M probably damaging Het
Dst T C 1: 34,229,717 (GRCm39) F2437L probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Fam227a CATTGTCTTGA CA 15: 79,533,959 (GRCm39) probably null Het
Fez2 T C 17: 78,694,482 (GRCm39) I303V probably benign Het
Ffar1 A T 7: 30,560,003 (GRCm39) I298N probably benign Het
Hpx C T 7: 105,244,685 (GRCm39) V228I probably benign Het
Igkv1-117 T G 6: 68,098,786 (GRCm39) C112G probably damaging Het
Il3ra A G 14: 14,348,903 (GRCm38) D99G probably benign Het
Ivl T A 3: 92,479,231 (GRCm39) K278M probably damaging Het
Lyst A G 13: 13,862,230 (GRCm39) T2589A probably benign Het
Madd A T 2: 90,984,793 (GRCm39) M1359K probably damaging Het
Nav3 T C 10: 109,600,779 (GRCm39) T1283A probably benign Het
Ncapd2 G T 6: 125,156,661 (GRCm39) C439* probably null Het
Nebl T C 2: 17,429,333 (GRCm39) D266G probably benign Het
Oas1f G T 5: 120,985,602 (GRCm39) G49V probably damaging Het
Oas1f A T 5: 120,986,479 (GRCm39) Q144L possibly damaging Het
Or11g7 T C 14: 50,691,373 (GRCm39) L288P possibly damaging Het
Or2ab1 A G 11: 58,488,233 (GRCm39) I6V unknown Het
Or2n1 T C 17: 38,486,419 (GRCm39) V148A probably benign Het
Or5an6 A G 19: 12,371,719 (GRCm39) I31V not run Het
Or5j3 C T 2: 86,128,672 (GRCm39) P171S probably benign Het
Or5m3 T G 2: 85,838,524 (GRCm39) S135A probably damaging Het
Or5t18 T A 2: 86,636,515 (GRCm39) Y276F probably damaging Het
Or6b6 C T 7: 106,571,671 (GRCm39) probably benign Het
Or8b52 C T 9: 38,577,108 (GRCm39) E11K probably benign Het
Or8j3c T A 2: 86,253,651 (GRCm39) Y123F probably damaging Het
Pard3b T A 1: 62,193,148 (GRCm39) V217E probably damaging Het
Pcdha2 T A 18: 37,072,513 (GRCm39) I48N probably damaging Het
Pi4ka A G 16: 17,120,991 (GRCm39) F1248L Het
Plekha2 A T 8: 25,554,005 (GRCm39) probably benign Het
Plpp4 C T 7: 128,981,201 (GRCm39) R151C unknown Het
Pramel14 T A 4: 143,718,177 (GRCm39) Y422F probably benign Het
Prdm16 A G 4: 154,405,339 (GRCm39) L1245P probably damaging Het
Prob1 G A 18: 35,786,604 (GRCm39) A550V probably benign Het
Prok1 T C 3: 107,144,408 (GRCm39) H65R probably benign Het
Ptcd1 A G 5: 145,091,887 (GRCm39) V404A probably benign Het
Sbf2 T C 7: 109,914,289 (GRCm39) E1631G probably benign Het
Sdad1 C A 5: 92,447,948 (GRCm39) K262N probably benign Het
Sh3bp1 G T 15: 78,794,272 (GRCm39) A547S probably benign Het
Sptb T C 12: 76,675,333 (GRCm39) D227G probably benign Het
Tbx1 A G 16: 18,406,769 (GRCm39) M1T probably null Het
Tmc7 T C 7: 118,165,468 (GRCm39) N82S probably benign Het
Tmem8b A G 4: 43,689,476 (GRCm39) D290G possibly damaging Het
Trbv13-2 A T 6: 41,098,493 (GRCm39) T23S probably damaging Het
Trib3 A T 2: 152,180,553 (GRCm39) D213E probably damaging Het
Tubgcp4 T C 2: 121,013,981 (GRCm39) V178A probably benign Het
Virma T A 4: 11,539,918 (GRCm39) C1412* probably null Het
Vmn2r108 T C 17: 20,691,762 (GRCm39) T254A probably benign Het
Vps13d A G 4: 144,882,137 (GRCm39) V1152A Het
Wdr47 T C 3: 108,526,284 (GRCm39) V269A probably damaging Het
Zc3h13 T A 14: 75,561,977 (GRCm39) D676E unknown Het
Zc3h6 T A 2: 128,858,934 (GRCm39) S988R probably benign Het
Other mutations in Tespa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Tespa1 APN 10 130,191,353 (GRCm39) missense probably damaging 1.00
R0081:Tespa1 UTSW 10 130,196,719 (GRCm39) missense probably damaging 1.00
R0544:Tespa1 UTSW 10 130,196,680 (GRCm39) missense probably damaging 1.00
R1381:Tespa1 UTSW 10 130,196,560 (GRCm39) missense probably benign 0.45
R1781:Tespa1 UTSW 10 130,184,119 (GRCm39) missense probably benign 0.37
R1912:Tespa1 UTSW 10 130,190,592 (GRCm39) missense probably benign 0.37
R1927:Tespa1 UTSW 10 130,184,108 (GRCm39) missense probably benign 0.01
R2428:Tespa1 UTSW 10 130,197,944 (GRCm39) missense probably damaging 0.99
R3907:Tespa1 UTSW 10 130,192,666 (GRCm39) splice site probably benign
R4439:Tespa1 UTSW 10 130,197,826 (GRCm39) missense probably damaging 1.00
R4440:Tespa1 UTSW 10 130,197,826 (GRCm39) missense probably damaging 1.00
R4441:Tespa1 UTSW 10 130,197,826 (GRCm39) missense probably damaging 1.00
R4836:Tespa1 UTSW 10 130,198,028 (GRCm39) missense probably benign 0.00
R5045:Tespa1 UTSW 10 130,197,904 (GRCm39) nonsense probably null
R5566:Tespa1 UTSW 10 130,191,356 (GRCm39) nonsense probably null
R5670:Tespa1 UTSW 10 130,190,624 (GRCm39) missense probably damaging 0.96
R5691:Tespa1 UTSW 10 130,190,638 (GRCm39) critical splice donor site probably null
R6173:Tespa1 UTSW 10 130,183,172 (GRCm39) missense probably benign 0.08
R7325:Tespa1 UTSW 10 130,197,910 (GRCm39) missense probably damaging 1.00
R7455:Tespa1 UTSW 10 130,196,559 (GRCm39) missense probably benign 0.00
R7577:Tespa1 UTSW 10 130,190,624 (GRCm39) missense probably damaging 0.96
R7783:Tespa1 UTSW 10 130,192,752 (GRCm39) missense probably damaging 1.00
R8719:Tespa1 UTSW 10 130,184,108 (GRCm39) missense probably benign 0.01
R8768:Tespa1 UTSW 10 130,198,027 (GRCm39) missense probably benign 0.19
R8885:Tespa1 UTSW 10 130,198,316 (GRCm39) missense probably benign 0.03
R9393:Tespa1 UTSW 10 130,183,066 (GRCm39) missense probably damaging 1.00
R9695:Tespa1 UTSW 10 130,198,285 (GRCm39) missense probably benign 0.02
Z1176:Tespa1 UTSW 10 130,197,764 (GRCm39) missense probably damaging 0.99
Z1177:Tespa1 UTSW 10 130,198,299 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCATCAGTTTGATAGGAAGGCC -3'
(R):5'- AGTTTCTCATGAAAGGTGTCCC -3'

Sequencing Primer
(F):5'- CCTGAAAGTGGGCTCGAAC -3'
(R):5'- ACCATATATGCCTATAGCTGCC -3'
Posted On 2020-01-23