Incidental Mutation 'IGL02111:Tespa1'
ID 280165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tespa1
Ensembl Gene ENSMUSG00000034833
Gene Name thymocyte expressed, positive selection associated 1
Synonyms A430001F24Rik, Itprid3, 5830405N20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02111
Quality Score
Status
Chromosome 10
Chromosomal Location 130158696-130199338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130191353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 99 (D99G)
Ref Sequence ENSEMBL: ENSMUSP00000152009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042586] [ENSMUST00000217702]
AlphaFold Q3U132
Predicted Effect probably damaging
Transcript: ENSMUST00000042586
AA Change: D99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833
AA Change: D99G

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: D99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 G A 8: 95,761,627 (GRCm39) R130Q probably damaging Het
Adipor2 A T 6: 119,347,157 (GRCm39) L42* probably null Het
Ankrd45 A G 1: 160,990,921 (GRCm39) K259E probably damaging Het
Apoc3 T C 9: 46,145,772 (GRCm39) K79R possibly damaging Het
Arhgap40 T C 2: 158,381,764 (GRCm39) Y416H probably damaging Het
Armc5 A G 7: 127,843,255 (GRCm39) T683A probably benign Het
Bora T C 14: 99,284,813 (GRCm39) V21A probably damaging Het
Cacna1b C T 2: 24,497,003 (GRCm39) S2189N probably damaging Het
Cct2 G A 10: 116,889,017 (GRCm39) T57I probably damaging Het
Cd200r1 A T 16: 44,609,144 (GRCm39) N34Y probably damaging Het
Cd300ld2 T A 11: 114,903,219 (GRCm39) probably benign Het
Cntnap5a G A 1: 116,017,082 (GRCm39) R225H probably benign Het
Cntnap5c A T 17: 58,409,103 (GRCm39) D447V probably damaging Het
Cpne7 T C 8: 123,852,392 (GRCm39) probably benign Het
Dap3 G A 3: 88,836,725 (GRCm39) T92I probably benign Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Egfem1 G A 3: 29,705,045 (GRCm39) probably null Het
Fam120b T C 17: 15,622,847 (GRCm39) L275P possibly damaging Het
Fam161a A T 11: 22,970,026 (GRCm39) H68L probably benign Het
Fam193a A G 5: 34,568,001 (GRCm39) E100G possibly damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gm10136 T C 19: 28,981,122 (GRCm39) K41E probably benign Het
Gm10797 C T 10: 67,408,397 (GRCm39) noncoding transcript Het
Hsf1 A G 15: 76,380,281 (GRCm39) probably benign Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Itfg2 T C 6: 128,387,344 (GRCm39) H422R probably benign Het
Lrp4 G T 2: 91,336,404 (GRCm39) L1738F probably damaging Het
Matcap2 T C 9: 22,335,475 (GRCm39) I31T probably benign Het
Mettl17 A G 14: 52,128,843 (GRCm39) E371G probably damaging Het
Mfsd6 A T 1: 52,747,503 (GRCm39) L454Q probably damaging Het
Myh10 A T 11: 68,680,938 (GRCm39) E956V probably damaging Het
Ncoa1 A T 12: 4,324,944 (GRCm39) M1K probably null Het
Or2d3c A C 7: 106,525,823 (GRCm39) V281G probably damaging Het
Or52e4 A G 7: 104,706,152 (GRCm39) D233G probably benign Het
Or5d36 T A 2: 87,901,571 (GRCm39) N52Y probably benign Het
Otop1 T A 5: 38,435,045 (GRCm39) C89S probably benign Het
Pitrm1 G T 13: 6,623,181 (GRCm39) R775L probably benign Het
Prpf19 A G 19: 10,882,458 (GRCm39) T512A probably benign Het
Prpf4b T A 13: 35,067,944 (GRCm39) S258T probably benign Het
Rhbdl2 T C 4: 123,716,630 (GRCm39) Y196H probably damaging Het
Rnf187 T C 11: 58,828,006 (GRCm39) D148G probably damaging Het
Sbds A G 5: 130,279,782 (GRCm39) I74T probably damaging Het
Sec63 T C 10: 42,686,884 (GRCm39) V468A probably damaging Het
Slc35b3 A T 13: 39,139,758 (GRCm39) M23K probably damaging Het
Slc6a9 A T 4: 117,721,210 (GRCm39) Y208F probably benign Het
Slfn8 A T 11: 82,895,324 (GRCm39) L494Q probably damaging Het
Sorcs1 T G 19: 50,218,683 (GRCm39) M600L probably benign Het
Supt7l T C 5: 31,673,022 (GRCm39) probably null Het
Tecrl T A 5: 83,502,639 (GRCm39) Q70L probably damaging Het
Tedc2 A T 17: 24,437,140 (GRCm39) probably benign Het
Tmem126b G T 7: 90,118,269 (GRCm39) Q204K probably damaging Het
Tmem181c-ps A T 17: 6,887,766 (GRCm39) noncoding transcript Het
Tmem184a G T 5: 139,798,856 (GRCm39) T31K possibly damaging Het
Tmprss11e T A 5: 86,867,660 (GRCm39) I137F possibly damaging Het
Tmprss13 C T 9: 45,247,403 (GRCm39) T255I probably damaging Het
Top1mt G A 15: 75,537,555 (GRCm39) probably benign Het
Treh C T 9: 44,594,258 (GRCm39) T168I probably benign Het
Ttn A T 2: 76,597,672 (GRCm39) I11420N probably benign Het
Zp2 T C 7: 119,731,641 (GRCm39) K705E possibly damaging Het
Zw10 T C 9: 48,980,054 (GRCm39) I395T probably damaging Het
Other mutations in Tespa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16