Incidental Mutation 'R2150:Themis'
ID 234205
Institutional Source Beutler Lab
Gene Symbol Themis
Ensembl Gene ENSMUSG00000049109
Gene Name thymocyte selection associated
Synonyms Tsepa, Gasp, E430004N04Rik
MMRRC Submission 040153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R2150 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 28544356-28759814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28544723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 23 (I23N)
Ref Sequence ENSEMBL: ENSMUSP00000101155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056097] [ENSMUST00000060409] [ENSMUST00000105516] [ENSMUST00000159927] [ENSMUST00000161345] [ENSMUST00000162202]
AlphaFold Q8BGW0
Predicted Effect probably damaging
Transcript: ENSMUST00000056097
AA Change: I23N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: I23N

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 damaging
Transcript: ENSMUST00000060409
AA Change: I23N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: I23N

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 damaging
Transcript: ENSMUST00000105516
AA Change: I23N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: I23N

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 damaging
Transcript: ENSMUST00000159927
AA Change: I23N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123919
Gene: ENSMUSG00000049109
AA Change: I23N

DomainStartEndE-ValueType
Pfam:CABIT 17 91 1.9e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000161345
AA Change: I23N
SMART Domains Protein: ENSMUSP00000123894
Gene: ENSMUSG00000049109
AA Change: I23N

DomainStartEndE-ValueType
Pfam:CABIT 17 86 1.9e-9 PFAM
Pfam:CABIT 129 203 5.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162202
AA Change: I23N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124451
Gene: ENSMUSG00000049109
AA Change: I23N

DomainStartEndE-ValueType
Pfam:CABIT 17 91 1.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162343
Meta Mutation Damage Score 0.9064 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 88,312,691 (GRCm39) Q159* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Anapc2 T C 2: 25,162,682 (GRCm39) L52P probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apoc4 T A 7: 19,412,560 (GRCm39) T62S probably damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Cdca2 T C 14: 67,952,258 (GRCm39) K38E probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Disp1 A G 1: 182,869,936 (GRCm39) F828S probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Dsel A T 1: 111,787,987 (GRCm39) N849K probably benign Het
Fah A T 7: 84,244,042 (GRCm39) I239N probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm6619 A G 6: 131,466,021 (GRCm39) I40V probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Hectd4 T C 5: 121,391,921 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,032,617 (GRCm39) I542V possibly damaging Het
Igsf9b T C 9: 27,245,633 (GRCm39) L1200P probably damaging Het
Itgb7 C T 15: 102,130,553 (GRCm39) V378M probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Man2a2 A G 7: 80,017,532 (GRCm39) W250R probably damaging Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat5 T C 1: 127,396,987 (GRCm39) V578A probably damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Or9g19 T C 2: 85,600,342 (GRCm39) S66P probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pecr T C 1: 72,316,517 (GRCm39) R63G possibly damaging Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Plekha5 T C 6: 140,516,129 (GRCm39) V270A probably damaging Het
Prr14l T C 5: 32,988,046 (GRCm39) D483G probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Senp1 C T 15: 97,956,196 (GRCm39) V408I possibly damaging Het
Stambpl1 T A 19: 34,204,104 (GRCm39) Y65N probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Thnsl1 T C 2: 21,217,344 (GRCm39) I366T probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,431,539 (GRCm39) noncoding transcript Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H probably damaging Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign Het
Other mutations in Themis
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Themis APN 10 28,544,749 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AAGTACCTCCCCACCTTAGG -3'
(R):5'- ACAACTTGCACTTTGTTTGCTG -3'

Sequencing Primer
(F):5'- CATTTCACATTCTGCCTGTGTGGG -3'
(R):5'- CTGGGTGTGTATATGTTTGAACTAAG -3'
Posted On 2014-10-01