Incidental Mutation 'IGL01893:Themis3'
ID179296
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 #IGL01893
Quality Score
Status
Chromosome17
Chromosomal Location66555252-66594621 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66559627 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 206 (L206P)
Ref Sequence ENSEMBL: ENSMUSP00000024914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024914]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024914
AA Change: L206P

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024914
Gene: ENSMUSG00000024105
AA Change: L206P

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,788,549 I275F probably damaging Het
Avil G A 10: 127,020,546 E815K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Car9 T A 4: 43,510,252 I278N probably damaging Het
Cast T A 13: 74,727,289 K480* probably null Het
Cenpj A G 14: 56,553,474 F373L probably damaging Het
Cspp1 T C 1: 10,134,141 probably null Het
Diaph3 G A 14: 86,918,852 T675I possibly damaging Het
Dip2b A T 15: 100,171,220 probably benign Het
Dnah1 T C 14: 31,266,470 D3425G probably damaging Het
Dolk A G 2: 30,285,914 Y40H probably benign Het
Drosha T C 15: 12,866,650 probably benign Het
Dusp15 A G 2: 152,949,036 probably null Het
Edrf1 T C 7: 133,657,102 F770L probably benign Het
Gabra1 T C 11: 42,133,759 K363R possibly damaging Het
Glipr1l1 A C 10: 112,076,169 T203P probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-Q10 T C 17: 35,473,271 S270P probably damaging Het
Hipk2 A T 6: 38,818,395 M313K probably benign Het
Htt T A 5: 34,876,830 I1920N probably damaging Het
Lsr A T 7: 30,962,232 V210E possibly damaging Het
Mbtd1 A T 11: 93,921,412 I181L probably null Het
Mettl16 A T 11: 74,805,271 T273S possibly damaging Het
Mlst8 T C 17: 24,477,987 N74D probably benign Het
Nek9 A G 12: 85,336,400 I102T probably damaging Het
Nme7 C T 1: 164,345,281 A187V probably damaging Het
Nphp1 A T 2: 127,769,644 W261R probably damaging Het
Olfr1148 G T 2: 87,833,863 G275* probably null Het
Olfr1306 A T 2: 111,912,244 S229T possibly damaging Het
Olfr90 A G 17: 37,085,868 L99P probably damaging Het
Orc6 A G 8: 85,307,643 D165G probably damaging Het
Ovca2 A G 11: 75,178,307 S89P probably benign Het
Pcdhb12 T G 18: 37,437,210 S470A probably benign Het
Phactr2 T C 10: 13,247,188 T397A probably benign Het
Pms2 T C 5: 143,923,519 L50P probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Serpinb11 C A 1: 107,377,657 S254R probably benign Het
Serpinb11 C A 1: 107,377,658 Q255K probably benign Het
Skap2 T C 6: 51,874,576 T79A probably damaging Het
Tbx19 A T 1: 165,140,198 S327T possibly damaging Het
Tmem132c T A 5: 127,463,029 L373Q possibly damaging Het
Unc13c G T 9: 73,693,366 N1365K probably benign Het
Vmn2r106 A T 17: 20,277,468 M503K probably benign Het
Vmn2r33 A G 7: 7,563,777 I112T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13a A C 19: 16,663,775 W2328G probably damaging Het
Other mutations in Themis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Themis3 APN 17 66556097 missense probably benign 0.02
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 On2014-05-07