Incidental Mutation 'IGL02743:Themis2'
ID305985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Themis2
Ensembl Gene ENSMUSG00000037731
Gene Namethymocyte selection associated family member 2
SynonymsICB-1, BC013712
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02743
Quality Score
Status
Chromosome4
Chromosomal Location132781843-132796387 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132783484 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 582 (E582D)
Ref Sequence ENSEMBL: ENSMUSP00000036945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045154] [ENSMUST00000102561]
Predicted Effect probably benign
Transcript: ENSMUST00000045154
AA Change: E582D

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036945
Gene: ENSMUSG00000037731
AA Change: E582D

DomainStartEndE-ValueType
Pfam:CABIT 18 242 1.1e-23 PFAM
Pfam:CABIT 267 524 5.3e-50 PFAM
low complexity region 648 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102561
SMART Domains Protein: ENSMUSP00000099621
Gene: ENSMUSG00000028884

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:RPA_C 166 262 1.7e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal B cell development, activation, and antibody responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn A C 5: 88,464,484 D188A probably damaging Het
Arfgef1 T C 1: 10,199,829 E365G probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
AW554918 C T 18: 25,289,944 Q151* probably null Het
Chd6 T C 2: 160,960,263 D2217G probably damaging Het
Cntn5 T A 9: 9,984,110 E166V probably damaging Het
Cyp4f15 T C 17: 32,699,952 S319P possibly damaging Het
Dna2 G A 10: 62,957,042 V279I possibly damaging Het
Edrf1 A G 7: 133,656,491 probably benign Het
Fmo3 A T 1: 162,958,483 F313I probably damaging Het
Kcnj10 A G 1: 172,369,654 D245G possibly damaging Het
Lrsam1 T C 2: 32,928,649 probably null Het
Mfn1 A T 3: 32,574,290 H690L probably benign Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4a T G 7: 26,459,815 probably benign Het
Olfr1295 T A 2: 111,564,543 R300S possibly damaging Het
Olfr1424 A G 19: 12,059,447 F102L probably damaging Het
Olfr314 T A 11: 58,786,780 L182* probably null Het
Olfr561 T A 7: 102,775,298 I258N probably damaging Het
Olfr668 T C 7: 104,924,868 T299A probably damaging Het
Olfr955 G A 9: 39,470,246 T160I probably benign Het
Plcxd3 G A 15: 4,574,803 V298I possibly damaging Het
Prrc2b C T 2: 32,194,429 S302F probably damaging Het
Serpine2 A T 1: 79,801,555 F149I probably damaging Het
Slc24a5 T C 2: 125,088,234 L485P probably damaging Het
Spg11 T A 2: 122,059,507 H2118L probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stxbp1 T C 2: 32,819,901 D60G probably damaging Het
Tmem131 T G 1: 36,793,151 I1802L probably benign Het
Tnrc6a A G 7: 123,171,473 K829E probably damaging Het
Usp8 T C 2: 126,734,023 M213T probably damaging Het
Wnk2 A G 13: 49,095,444 V377A probably damaging Het
Wwox T G 8: 115,351,704 Y375D probably damaging Het
Other mutations in Themis2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02009:Themis2 APN 4 132785442 missense probably damaging 1.00
IGL02192:Themis2 APN 4 132783347 critical splice donor site probably null
IGL02934:Themis2 APN 4 132789551 missense probably damaging 0.99
R0111:Themis2 UTSW 4 132789925 missense probably benign 0.17
R0598:Themis2 UTSW 4 132789683 missense possibly damaging 0.93
R1445:Themis2 UTSW 4 132782901 missense possibly damaging 0.53
R1484:Themis2 UTSW 4 132792485 missense possibly damaging 0.94
R1719:Themis2 UTSW 4 132789649 missense possibly damaging 0.95
R2076:Themis2 UTSW 4 132785802 missense probably damaging 1.00
R3522:Themis2 UTSW 4 132785595 missense probably damaging 1.00
R4620:Themis2 UTSW 4 132786022 missense probably damaging 1.00
R4653:Themis2 UTSW 4 132782976 missense probably benign 0.40
R4891:Themis2 UTSW 4 132783357 missense probably benign 0.14
R5331:Themis2 UTSW 4 132782933 missense possibly damaging 0.85
R5660:Themis2 UTSW 4 132796256 splice site probably null
R6014:Themis2 UTSW 4 132785980 missense probably benign 0.01
R6747:Themis2 UTSW 4 132796262 missense possibly damaging 0.80
R6863:Themis2 UTSW 4 132789596 missense probably damaging 1.00
R7380:Themis2 UTSW 4 132786217 missense possibly damaging 0.93
R7890:Themis2 UTSW 4 132789643 missense probably damaging 1.00
R7973:Themis2 UTSW 4 132789643 missense probably damaging 1.00
R7998:Themis2 UTSW 4 132792564 missense probably damaging 0.99
Posted On2015-04-16