Incidental Mutation 'IGL01729:Themis'
ID 105417
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 # IGL01729
Quality Score
Status
Chromosome 10
Chromosomal Location 28544356-28759814 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 28637587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 230 (Y230*)
Ref Sequence ENSEMBL: ENSMUSP00000101155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056097] [ENSMUST00000060409] [ENSMUST00000105516] [ENSMUST00000159927] [ENSMUST00000161345]
AlphaFold Q8BGW0
Predicted Effect probably null
Transcript: ENSMUST00000056097
AA Change: Y230*
SMART Domains Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: Y230*

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 null
Transcript: ENSMUST00000060409
AA Change: Y230*
SMART Domains Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: Y230*

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 null
Transcript: ENSMUST00000105516
AA Change: Y230*
SMART Domains Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: Y230*

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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,526 (GRCm39) F86L probably damaging Het
Acer3 A G 7: 97,866,072 (GRCm39) V217A probably benign Het
Adcy10 T C 1: 165,340,737 (GRCm39) probably null Het
Adcy8 C T 15: 64,678,511 (GRCm39) V481I probably damaging Het
Ano3 C T 2: 110,611,739 (GRCm39) probably null Het
Arhgap23 C T 11: 97,344,787 (GRCm39) T583I probably damaging Het
Atp2a1 A G 7: 126,057,106 (GRCm39) L173P probably damaging Het
Clgn T C 8: 84,124,279 (GRCm39) W74R probably damaging Het
Clstn3 T C 6: 124,426,753 (GRCm39) S523G probably benign Het
Dnah10 A C 5: 124,864,529 (GRCm39) K2245Q probably benign Het
Dsg1b G T 18: 20,538,295 (GRCm39) V634L possibly damaging Het
Dzip3 A T 16: 48,748,726 (GRCm39) V864E possibly damaging Het
Ear2 A T 14: 44,340,701 (GRCm39) R120* probably null Het
Fam171b T C 2: 83,685,881 (GRCm39) probably benign Het
Fam186b G A 15: 99,178,132 (GRCm39) S398L probably benign Het
Gabrp T C 11: 33,502,689 (GRCm39) K392E probably damaging Het
Gm10355 G A 3: 101,213,999 (GRCm39) noncoding transcript Het
Gm3424 T C 14: 17,337,188 (GRCm39) Y90C probably damaging Het
Gm8165 A G 14: 43,910,186 (GRCm39) V212A unknown Het
Grm7 G A 6: 111,223,145 (GRCm39) R395Q probably benign Het
Il1r1 T A 1: 40,333,986 (GRCm39) N185K probably damaging Het
Jam3 A G 9: 27,016,821 (GRCm39) F80L probably damaging Het
Map1s T C 8: 71,365,712 (GRCm39) Y206H probably damaging Het
Mroh7 A G 4: 106,561,402 (GRCm39) Y614H possibly damaging Het
Ntmt2 T A 1: 163,552,572 (GRCm39) D18V probably damaging Het
Pate2 T C 9: 35,581,888 (GRCm39) Y61H probably damaging Het
Prox1 T A 1: 189,893,372 (GRCm39) T358S probably benign Het
Prpf6 T A 2: 181,296,710 (GRCm39) D876E probably damaging Het
Rpf1 G A 3: 146,212,904 (GRCm39) R311C probably damaging Het
Rpusd2 T A 2: 118,865,837 (GRCm39) V178D probably damaging Het
Stx2 A G 5: 129,068,042 (GRCm39) F222L probably benign Het
Tmem132e T C 11: 82,325,942 (GRCm39) L314P possibly damaging Het
Tmtc3 T C 10: 100,283,017 (GRCm39) E846G probably benign Het
Trem1 T C 17: 48,551,603 (GRCm39) V88A possibly damaging Het
Trim21 G A 7: 102,213,100 (GRCm39) A66V probably damaging Het
Trip4 A C 9: 65,782,174 (GRCm39) V186G probably benign Het
Vps9d1 T C 8: 123,973,739 (GRCm39) E348G probably damaging Het
Xrn2 T C 2: 146,878,717 (GRCm39) probably null Het
Zfp36 A G 7: 28,077,888 (GRCm39) S7P probably damaging Het
Other mutations in Themis
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Themis APN 10 28,544,749 (GRCm39) splice site probably benign
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 2014-01-21