Incidental Mutation 'IGL01413:Themis3'
ID80119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Themis3
Ensembl Gene ENSMUSG00000024105
Gene Namethymocyte selection associated family member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #IGL01413
Quality Score
Status
Chromosome17
Chromosomal Location66555252-66594621 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66556097 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 289 (Y289H)
Ref Sequence ENSEMBL: ENSMUSP00000024914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024914]
Predicted Effect probably benign
Transcript: ENSMUST00000024914
AA Change: Y289H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000024914
Gene: ENSMUSG00000024105
AA Change: Y289H

DomainStartEndE-ValueType
Pfam:CABIT 17 262 2e-48 PFAM
Pfam:CABIT 272 533 3.5e-49 PFAM
low complexity region 556 566 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,612,306 A1160V possibly damaging Het
Acaa2 A T 18: 74,805,944 probably benign Het
Adgrl1 T A 8: 83,929,857 I268N probably damaging Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ass1 A G 2: 31,476,922 Y11C probably damaging Het
Casc1 A T 6: 145,175,086 M669K probably damaging Het
Cd44 T C 2: 102,814,287 E448G probably damaging Het
Cdca2 A G 14: 67,677,894 S639P probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cmtr1 T C 17: 29,697,982 S618P probably benign Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Col4a4 C T 1: 82,471,248 G1207E unknown Het
Cthrc1 T A 15: 39,080,499 L58Q possibly damaging Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dlgap1 C A 17: 70,516,074 A18E probably benign Het
Dnah2 G A 11: 69,432,964 L3707F probably damaging Het
Duox1 A G 2: 122,320,710 N289D probably benign Het
Fbrsl1 T A 5: 110,378,248 E443D probably damaging Het
Fgfr1 T A 8: 25,562,223 C288* probably null Het
Gabbr1 A G 17: 37,062,706 N498S possibly damaging Het
Gja10 T C 4: 32,602,070 K105E probably damaging Het
Glra4 C T X: 136,762,744 R352H probably benign Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Gm19402 G T 10: 77,690,489 probably benign Het
Hadha T A 5: 30,141,027 M200L probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Huwe1 A T X: 151,882,680 Q1231L possibly damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Il1rl1 A T 1: 40,446,169 K260N possibly damaging Het
Lhx6 C A 2: 36,103,516 A57S probably benign Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Met T C 6: 17,558,896 probably benign Het
Mgam A G 6: 40,661,277 D387G probably damaging Het
Myo3a T C 2: 22,297,600 S287P probably benign Het
Nol8 T G 13: 49,659,952 N140K possibly damaging Het
Nrap C A 19: 56,389,391 A56S probably damaging Het
Nuggc A G 14: 65,638,581 T548A probably benign Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Olfr94 A T 17: 37,197,663 F102I possibly damaging Het
Pcdh11x A G X: 120,399,585 T242A probably benign Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Pdzph1 T C 17: 58,879,152 I1215V possibly damaging Het
Plekha8 C T 6: 54,622,276 T265I probably benign Het
Pou4f2 T A 8: 78,435,105 I290F probably damaging Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rab28 A T 5: 41,698,447 D68E probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Samd4 A G 14: 47,016,792 T137A probably benign Het
Serpinb1b T G 13: 33,093,859 D358E probably damaging Het
Serpinb9c G A 13: 33,151,804 L222F probably damaging Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Spef2 T A 15: 9,676,290 I732L probably benign Het
Srrm2 T C 17: 23,816,025 probably benign Het
Ssx9 A G X: 8,749,453 E75G probably benign Het
Stmnd1 A T 13: 46,299,681 I278L probably benign Het
Strap C A 6: 137,745,504 probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Tcf4 A C 18: 69,655,019 E160D probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trappc10 A G 10: 78,197,844 V963A possibly damaging Het
Trav19 G T 14: 53,845,615 C49F probably damaging Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Usp9x A G X: 13,151,340 S1696G probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Vmn1r185 A T 7: 26,611,621 V153E probably damaging Het
Vmn2r124 A G 17: 18,062,565 T174A probably benign Het
Wdr59 T A 8: 111,501,074 S124C probably benign Het
Xirp2 A T 2: 67,509,926 D837V probably damaging Het
Zfp185 A G X: 73,018,391 D403G possibly damaging Het
Zfp516 A T 18: 82,987,670 K900* probably null Het
Other mutations in Themis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:Themis3 APN 17 66559627 missense possibly damaging 0.52
IGL02065:Themis3 APN 17 66555905 missense probably benign 0.02
R0345:Themis3 UTSW 17 66559545 critical splice donor site probably null
R0538:Themis3 UTSW 17 66593270 missense possibly damaging 0.95
R0583:Themis3 UTSW 17 66559753 missense probably benign 0.01
R1494:Themis3 UTSW 17 66559954 missense probably benign 0.18
R1713:Themis3 UTSW 17 66555853 missense probably benign 0.00
R2271:Themis3 UTSW 17 66555704 missense possibly damaging 0.57
R4214:Themis3 UTSW 17 66560017 missense probably benign 0.09
R5575:Themis3 UTSW 17 66555326 missense possibly damaging 0.85
R5815:Themis3 UTSW 17 66555704 missense possibly damaging 0.57
R6018:Themis3 UTSW 17 66593209 missense probably damaging 0.99
Posted On2013-11-05