Incidental Mutation 'R4836:Tespa1'
ID 373253
Institutional Source Beutler Lab
Gene Symbol Tespa1
Ensembl Gene ENSMUSG00000034833
Gene Name thymocyte expressed, positive selection associated 1
Synonyms A430001F24Rik, Itprid3, 5830405N20Rik
MMRRC Submission 042451-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4836 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 130158696-130199338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130198028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 350 (T350I)
Ref Sequence ENSEMBL: ENSMUSP00000047284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042586] [ENSMUST00000217702]
AlphaFold Q3U132
Predicted Effect probably benign
Transcript: ENSMUST00000042586
AA Change: T350I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833
AA Change: T350I

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
KRAP_IP3R_bind 128 292 2.24e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217702
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 98% (87/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 A T 11: 116,066,152 (GRCm39) S453T probably benign Het
Ahnak2 A T 12: 112,740,550 (GRCm39) V368D probably damaging Het
Ankrd53 A T 6: 83,745,134 (GRCm39) Y448F probably damaging Het
Arhgef15 A T 11: 68,840,751 (GRCm39) probably benign Het
Atg2b T C 12: 105,613,073 (GRCm39) N1166S probably benign Het
Atl3 C T 19: 7,486,910 (GRCm39) R77* probably null Het
Bend6 T C 1: 33,922,654 (GRCm39) probably benign Het
Ccnt1 C A 15: 98,465,444 (GRCm39) R25L probably damaging Het
Cct4 A G 11: 22,952,898 (GRCm39) T525A probably benign Het
Cep350 T C 1: 155,804,579 (GRCm39) I835V probably damaging Het
Cimap2 T A 4: 106,467,724 (GRCm39) probably null Het
Clcn1 G T 6: 42,286,898 (GRCm39) V652L probably damaging Het
Cntln T A 4: 84,967,957 (GRCm39) Y725* probably null Het
Cog5 T C 12: 31,969,732 (GRCm39) F21L probably benign Het
D6Ertd527e GGCAGCAGCAGCA GGCAGCAGCAGCAGCA 6: 87,088,406 (GRCm39) probably benign Het
Dnm2 A T 9: 21,402,626 (GRCm39) probably benign Het
Dnmt1 C T 9: 20,819,854 (GRCm39) V1430I probably damaging Het
Dpep1 A G 8: 123,927,106 (GRCm39) D285G probably damaging Het
Eef2kmt C T 16: 5,066,867 (GRCm39) V129M probably damaging Het
Epha3 A T 16: 63,403,920 (GRCm39) M726K probably damaging Het
Fat3 A G 9: 16,289,019 (GRCm39) L168P probably damaging Het
Frem3 T A 8: 81,390,026 (GRCm39) F1759Y probably damaging Het
Fubp3 T A 2: 31,498,153 (GRCm39) S56R possibly damaging Het
Gm1965 T C 6: 89,122,392 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,864,958 (GRCm39) probably benign Het
H1f9 T A 11: 94,858,843 (GRCm39) L46* probably null Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Isl1 A G 13: 116,439,619 (GRCm39) M243T probably benign Het
Itpr1 A T 6: 108,366,498 (GRCm39) I142F probably damaging Het
Jak1 T C 4: 101,012,263 (GRCm39) T1069A probably damaging Het
Jmjd1c T C 10: 67,069,225 (GRCm39) V1848A probably benign Het
Kdm5a T C 6: 120,389,363 (GRCm39) V930A probably damaging Het
Kdm5b C A 1: 134,521,053 (GRCm39) probably null Het
Lilra5 T C 7: 4,241,713 (GRCm39) F171L possibly damaging Het
Map1b A G 13: 99,567,562 (GRCm39) S1720P unknown Het
Mcpt1 A T 14: 56,257,017 (GRCm39) Q185L probably damaging Het
Mmp20 T A 9: 7,644,027 (GRCm39) D238E possibly damaging Het
Mov10l1 A T 15: 88,904,472 (GRCm39) I784F possibly damaging Het
Mroh2b C T 15: 4,933,752 (GRCm39) P101S probably damaging Het
Myh3 G T 11: 66,987,765 (GRCm39) A1413S probably benign Het
Naa80 A T 9: 107,460,738 (GRCm39) Y211F probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or12j4 A G 7: 140,046,989 (GRCm39) R292G probably damaging Het
Or2t48 A C 11: 58,420,308 (GRCm39) M168R probably damaging Het
Or4a66 A G 2: 88,531,544 (GRCm39) I43T probably damaging Het
Or5g9 A G 2: 85,551,793 (GRCm39) I15V probably benign Het
Or8k22 A T 2: 86,163,571 (GRCm39) M43K probably benign Het
Or8k23 G A 2: 86,186,094 (GRCm39) L211F probably benign Het
Palld T A 8: 62,140,415 (GRCm39) T531S probably benign Het
Parp4 A G 14: 56,823,195 (GRCm39) E105G probably benign Het
Phf11a A T 14: 59,525,028 (GRCm39) S59T probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Rad50 A T 11: 53,541,480 (GRCm39) I1252N probably damaging Het
Ramp3 A G 11: 6,624,761 (GRCm39) probably null Het
Rrbp1 G A 2: 143,830,337 (GRCm39) T610I possibly damaging Het
Scart2 T C 7: 139,879,021 (GRCm39) I1051T probably benign Het
Semp2l2a C T 8: 13,888,007 (GRCm39) S28N probably benign Het
Slc4a10 A G 2: 62,098,531 (GRCm39) Y555C probably damaging Het
Slc5a2 A G 7: 127,866,677 (GRCm39) probably null Het
Smoc1 T A 12: 81,226,322 (GRCm39) D371E probably damaging Het
Stmn1 T A 4: 134,197,495 (GRCm39) probably benign Het
Sulf1 C T 1: 12,912,910 (GRCm39) L715F probably benign Het
Surf1 T C 2: 26,804,255 (GRCm39) T180A possibly damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A T 3: 93,352,455 (GRCm39) R632W unknown Het
Tchh A T 3: 93,354,895 (GRCm39) D1445V unknown Het
Tctn1 A T 5: 122,383,568 (GRCm39) M505K probably benign Het
Tdrkh T A 3: 94,332,897 (GRCm39) I150N probably damaging Het
Thbs1 A G 2: 117,945,499 (GRCm39) Y326C possibly damaging Het
Tmem208 C T 8: 106,055,296 (GRCm39) S119F probably damaging Het
Tmprss6 G C 15: 78,329,588 (GRCm39) A91G probably damaging Het
Trp53bp2 C T 1: 182,259,147 (GRCm39) R67W probably damaging Het
Ttn A G 2: 76,541,541 (GRCm39) I25488T possibly damaging Het
Txnl4a A G 18: 80,265,468 (GRCm39) E111G probably damaging Het
Unc13b T G 4: 43,237,137 (GRCm39) I3402M probably damaging Het
Vmn1r188 A C 13: 22,272,291 (GRCm39) I82L probably benign Het
Zfp65 A G 13: 67,856,994 (GRCm39) V95A probably benign Het
Zfp985 T A 4: 147,668,612 (GRCm39) S493R probably damaging 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
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
R8048:Tespa1 UTSW 10 130,183,208 (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'- GTATACAGGTTCCCGAGATCG -3'
(R):5'- CTTGTCCACAGGAACCCTTTG -3'

Sequencing Primer
(F):5'- GAGATCGGCTATCATCATCTTACAAC -3'
(R):5'- ATTCTCAGCTGAACGTGGC -3'
Posted On 2016-03-01