Incidental Mutation 'IGL01609:Themis'
ID 91920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Themis
Ensembl Gene ENSMUSG00000049109
Gene Name thymocyte selection associated
Synonyms Tsepa, Gasp, E430004N04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL01609
Quality Score
Status
Chromosome 10
Chromosomal Location 28544356-28759814 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 28544749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056097] [ENSMUST00000060409] [ENSMUST00000105516] [ENSMUST00000159927] [ENSMUST00000161345] [ENSMUST00000162202]
AlphaFold Q8BGW0
Predicted Effect probably benign
Transcript: ENSMUST00000056097
SMART Domains Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109

DomainStartEndE-ValueType
Pfam:CABIT 17 266 5.2e-59 PFAM
Pfam:CABIT 282 530 3.7e-48 PFAM
low complexity region 550 564 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060409
SMART Domains Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109

DomainStartEndE-ValueType
Pfam:CABIT 17 272 9.3e-52 PFAM
Pfam:CABIT 282 532 5e-62 PFAM
low complexity region 550 564 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105516
SMART Domains Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109

DomainStartEndE-ValueType
Pfam:CABIT 17 272 9e-52 PFAM
Pfam:CABIT 282 532 4.9e-62 PFAM
low complexity region 550 564 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159927
SMART Domains Protein: ENSMUSP00000123919
Gene: ENSMUSG00000049109

DomainStartEndE-ValueType
Pfam:CABIT 17 91 1.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161345
SMART Domains Protein: ENSMUSP00000123894
Gene: ENSMUSG00000049109

DomainStartEndE-ValueType
Pfam:CABIT 17 86 1.9e-9 PFAM
Pfam:CABIT 129 203 5.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162202
SMART Domains Protein: ENSMUSP00000124451
Gene: ENSMUSG00000049109

DomainStartEndE-ValueType
Pfam:CABIT 17 91 1.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162343
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous null mice have defects in T cell positive selection that leads to very few alpha-beta T cells being found in the periphery. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,955,092 (GRCm39) V299A probably benign Het
Actr5 T C 2: 158,478,722 (GRCm39) probably null Het
Arhgap18 A G 10: 26,756,744 (GRCm39) D448G possibly damaging Het
Bcl9 T C 3: 97,116,291 (GRCm39) E801G probably benign Het
Bin1 A G 18: 32,552,978 (GRCm39) N232S probably damaging Het
Brf1 A C 12: 112,927,211 (GRCm39) Y459D probably damaging Het
Clca4a T A 3: 144,659,541 (GRCm39) I772F probably damaging Het
Cyp2a4 G A 7: 26,008,088 (GRCm39) probably null Het
Dync1i2 T A 2: 71,077,352 (GRCm39) probably benign Het
Frem3 T A 8: 81,339,333 (GRCm39) M542K probably benign Het
Gpbp1 T C 13: 111,575,736 (GRCm39) T256A possibly damaging Het
Ighm T C 12: 113,384,854 (GRCm39) probably benign Het
Igkv3-12 A G 6: 70,495,232 (GRCm39) probably benign Het
Kdm4d A G 9: 14,375,714 (GRCm39) V48A probably damaging Het
Lama2 T C 10: 27,220,417 (GRCm39) S483G probably benign Het
Lbp A C 2: 158,170,332 (GRCm39) Q464P probably damaging Het
Lipo4 T C 19: 33,476,654 (GRCm39) T365A probably benign Het
Mark3 T C 12: 111,593,956 (GRCm39) F274S probably damaging Het
Mcm3 A T 1: 20,884,904 (GRCm39) probably benign Het
Mrpl9 T A 3: 94,352,001 (GRCm39) F137I probably damaging Het
Msh4 G T 3: 153,603,034 (GRCm39) A93E probably damaging Het
Mthfd1l T A 10: 3,968,567 (GRCm39) D407E probably benign Het
Or10j7 G A 1: 173,011,843 (GRCm39) H53Y probably benign Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or1i2 A C 10: 78,447,960 (GRCm39) S172A probably benign Het
Pcsk2 G T 2: 143,643,078 (GRCm39) V452L possibly damaging Het
Pcsk6 G A 7: 65,685,021 (GRCm39) probably null Het
Pmfbp1 A G 8: 110,254,348 (GRCm39) E461G probably benign Het
Pole2 A G 12: 69,254,631 (GRCm39) probably null Het
Postn T C 3: 54,276,649 (GRCm39) M176T probably damaging Het
Prss12 T A 3: 123,276,483 (GRCm39) C371S probably damaging Het
Rnf11 T A 4: 109,314,173 (GRCm39) Q72L possibly damaging Het
Rrad A G 8: 105,356,456 (GRCm39) probably null Het
Slitrk3 T A 3: 72,957,570 (GRCm39) I401F probably damaging Het
Tmem45a A G 16: 56,631,928 (GRCm39) I230T probably benign Het
Tnni1 C A 1: 135,733,234 (GRCm39) probably null Het
Trpa1 A T 1: 14,982,607 (GRCm39) I83N probably damaging Het
Uggt1 T C 1: 36,221,555 (GRCm39) Y54C probably damaging Het
Umodl1 C T 17: 31,217,800 (GRCm39) T1202I possibly damaging Het
Unc93a2 A G 17: 7,637,138 (GRCm39) V130A probably damaging Het
Usp37 G A 1: 74,514,199 (GRCm39) A324V probably benign Het
Zfp808 T A 13: 62,321,023 (GRCm39) C751S probably damaging Het
Other mutations in Themis
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Themis APN 10 28,637,587 (GRCm39) nonsense probably null
IGL01833:Themis APN 10 28,658,307 (GRCm39) nonsense probably null
IGL02582:Themis APN 10 28,637,543 (GRCm39) missense probably benign 0.00
IGL02835:Themis APN 10 28,637,616 (GRCm39) intron probably benign
cloudies UTSW 10 28,637,195 (GRCm39) nonsense probably null
currant UTSW 10 28,658,007 (GRCm39) missense probably damaging 1.00
death_valley UTSW 10 28,544,723 (GRCm39) missense probably damaging 1.00
Meteor UTSW 10 28,657,828 (GRCm39) missense possibly damaging 0.90
six_flags UTSW 10 28,657,903 (GRCm39) missense probably damaging 1.00
R0445:Themis UTSW 10 28,658,007 (GRCm39) missense probably damaging 1.00
R0507:Themis UTSW 10 28,657,828 (GRCm39) missense possibly damaging 0.90
R0709:Themis UTSW 10 28,637,570 (GRCm39) missense probably benign 0.00
R1170:Themis UTSW 10 28,544,744 (GRCm39) missense possibly damaging 0.80
R1442:Themis UTSW 10 28,658,131 (GRCm39) missense probably damaging 0.96
R1844:Themis UTSW 10 28,657,753 (GRCm39) missense probably damaging 1.00
R2004:Themis UTSW 10 28,658,720 (GRCm39) missense probably benign 0.28
R2150:Themis UTSW 10 28,544,723 (GRCm39) missense probably damaging 1.00
R2358:Themis UTSW 10 28,739,376 (GRCm39) missense possibly damaging 0.57
R4529:Themis UTSW 10 28,658,331 (GRCm39) missense possibly damaging 0.92
R4693:Themis UTSW 10 28,658,647 (GRCm39) missense probably damaging 1.00
R4717:Themis UTSW 10 28,665,748 (GRCm39) missense probably benign
R4801:Themis UTSW 10 28,637,507 (GRCm39) missense probably benign 0.21
R4802:Themis UTSW 10 28,637,507 (GRCm39) missense probably benign 0.21
R5249:Themis UTSW 10 28,637,195 (GRCm39) nonsense probably null
R5557:Themis UTSW 10 28,657,882 (GRCm39) missense possibly damaging 0.90
R5569:Themis UTSW 10 28,657,887 (GRCm39) missense possibly damaging 0.95
R5640:Themis UTSW 10 28,739,372 (GRCm39) missense probably damaging 0.99
R5735:Themis UTSW 10 28,598,530 (GRCm39) missense probably benign 0.09
R6467:Themis UTSW 10 28,657,762 (GRCm39) missense possibly damaging 0.47
R6523:Themis UTSW 10 28,657,894 (GRCm39) missense possibly damaging 0.65
R6727:Themis UTSW 10 28,657,903 (GRCm39) missense probably damaging 1.00
R7014:Themis UTSW 10 28,665,703 (GRCm39) missense probably benign
R7101:Themis UTSW 10 28,637,422 (GRCm39) nonsense probably null
R7185:Themis UTSW 10 28,657,873 (GRCm39) missense probably benign 0.00
R7323:Themis UTSW 10 28,609,497 (GRCm39) missense probably benign
R7386:Themis UTSW 10 28,665,743 (GRCm39) missense probably benign 0.00
R7472:Themis UTSW 10 28,637,415 (GRCm39) missense possibly damaging 0.69
R7555:Themis UTSW 10 28,657,698 (GRCm39) missense possibly damaging 0.67
R7715:Themis UTSW 10 28,739,305 (GRCm39) missense probably benign 0.02
R7825:Themis UTSW 10 28,658,470 (GRCm39) missense probably benign 0.11
R7992:Themis UTSW 10 28,637,342 (GRCm39) missense probably benign 0.02
R8112:Themis UTSW 10 28,673,502 (GRCm39) makesense probably null
R8850:Themis UTSW 10 28,673,492 (GRCm39) missense possibly damaging 0.83
R8954:Themis UTSW 10 28,665,709 (GRCm39) missense probably benign 0.00
R9038:Themis UTSW 10 28,657,749 (GRCm39) missense probably damaging 0.99
R9081:Themis UTSW 10 28,544,582 (GRCm39) unclassified probably benign
R9168:Themis UTSW 10 28,658,233 (GRCm39) missense probably benign 0.01
R9169:Themis UTSW 10 28,658,233 (GRCm39) missense probably benign 0.01
R9170:Themis UTSW 10 28,658,233 (GRCm39) missense probably benign 0.01
R9171:Themis UTSW 10 28,658,233 (GRCm39) missense probably benign 0.01
R9269:Themis UTSW 10 28,739,390 (GRCm39) missense probably benign 0.10
R9404:Themis UTSW 10 28,665,743 (GRCm39) missense probably benign 0.00
R9518:Themis UTSW 10 28,544,748 (GRCm39) critical splice donor site probably null
Posted On 2013-12-09