Incidental Mutation 'R0507:Themis'
ID 47673
Institutional Source Beutler Lab
Gene Symbol Themis
Ensembl Gene ENSMUSG00000049109
Gene Name thymocyte selection associated
Synonyms Tsepa, Gasp, E430004N04Rik
MMRRC Submission 038702-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R0507 (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 28657828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 132 (V132E)
Ref Sequence ENSEMBL: ENSMUSP00000123894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056097] [ENSMUST00000060409] [ENSMUST00000105516] [ENSMUST00000159927] [ENSMUST00000161345]
AlphaFold Q8BGW0
Predicted Effect probably benign
Transcript: ENSMUST00000056097
AA Change: V285E

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: V285E

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
AA Change: V285E

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: V285E

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
AA Change: V285E

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: V285E

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 possibly damaging
Transcript: ENSMUST00000161345
AA Change: V132E

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123894
Gene: ENSMUSG00000049109
AA Change: V132E

DomainStartEndE-ValueType
Pfam:CABIT 17 86 1.9e-9 PFAM
Pfam:CABIT 129 203 5.1e-18 PFAM
Meta Mutation Damage Score 0.1152 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,838,655 (GRCm39) probably benign Het
Adamts16 T C 13: 70,916,766 (GRCm39) D742G probably benign Het
Akap9 G A 5: 4,119,043 (GRCm39) E3517K probably benign Het
Arfgef3 T C 10: 18,467,369 (GRCm39) T1944A probably damaging Het
Bsx A G 9: 40,787,796 (GRCm39) probably benign Het
Cct2 A T 10: 116,891,151 (GRCm39) probably null Het
Cdkl4 T C 17: 80,851,237 (GRCm39) D155G probably benign Het
Cep250 C T 2: 155,834,452 (GRCm39) R2126C possibly damaging Het
Cep97 A T 16: 55,726,245 (GRCm39) probably benign Het
Cpne3 C T 4: 19,532,544 (GRCm39) probably benign Het
Csmd1 T C 8: 16,235,358 (GRCm39) probably benign Het
Cx3cr1 C A 9: 119,881,022 (GRCm39) D127Y probably damaging Het
Dcdc2a A G 13: 25,286,572 (GRCm39) Q165R probably damaging Het
Ddx17 A G 15: 79,421,758 (GRCm39) probably benign Het
Dicer1 A G 12: 104,657,917 (GRCm39) S1886P probably damaging Het
Egf T C 3: 129,474,828 (GRCm39) D571G possibly damaging Het
Fyb1 A G 15: 6,664,297 (GRCm39) D460G probably benign Het
Gbp2 G T 3: 142,335,794 (GRCm39) D165Y probably damaging Het
Gm14412 A T 2: 177,006,325 (GRCm39) N523K possibly damaging Het
Gsap C T 5: 21,474,961 (GRCm39) T540I possibly damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Icam4 C A 9: 20,940,799 (GRCm39) P17Q possibly damaging Het
Lyz1 A T 10: 117,125,022 (GRCm39) probably null Het
Matcap1 T C 8: 106,011,351 (GRCm39) N261S probably damaging Het
Mbd6 A G 10: 127,119,389 (GRCm39) probably benign Het
Mroh3 A T 1: 136,118,718 (GRCm39) I533N probably damaging Het
Muc4 A T 16: 32,569,887 (GRCm39) M316L probably benign Het
Myof A G 19: 37,889,725 (GRCm39) I1282T possibly damaging Het
Ncald T G 15: 37,397,528 (GRCm39) I51L probably benign Het
Negr1 T A 3: 156,267,862 (GRCm39) S11T probably damaging Het
Obscn T C 11: 58,920,167 (GRCm39) N6735D probably damaging Het
Or52n4b T C 7: 108,144,292 (GRCm39) S185P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6c1b A T 10: 129,273,157 (GRCm39) M159L probably benign Het
Or9q1 T A 19: 13,805,140 (GRCm39) I207F possibly damaging Het
Otogl A G 10: 107,702,601 (GRCm39) V684A possibly damaging Het
Palm3 A G 8: 84,754,958 (GRCm39) T157A probably benign Het
Pard3 T A 8: 128,097,967 (GRCm39) probably benign Het
Pcdh15 A G 10: 74,457,129 (GRCm39) D1302G probably damaging Het
Pi16 G A 17: 29,546,826 (GRCm39) E467K possibly damaging Het
Plec A T 15: 76,056,983 (GRCm39) I4183N probably damaging Het
Ppp1r13l T C 7: 19,109,739 (GRCm39) L720P possibly damaging Het
Prag1 A G 8: 36,571,277 (GRCm39) E620G probably damaging Het
Ralbp1 G A 17: 66,156,955 (GRCm39) T646M probably benign Het
Rnf182 T G 13: 43,821,823 (GRCm39) S125A probably benign Het
Rpe C T 1: 66,754,300 (GRCm39) T124I probably benign Het
Rufy4 T C 1: 74,185,875 (GRCm39) I514T probably benign Het
Sec13 A T 6: 113,712,080 (GRCm39) I85N probably damaging Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Skint5 T C 4: 113,425,127 (GRCm39) probably null Het
Slc4a3 T A 1: 75,532,725 (GRCm39) I995K probably damaging Het
Smyd4 T A 11: 75,290,534 (GRCm39) S545T possibly damaging Het
Steap3 C T 1: 120,169,313 (GRCm39) R328H possibly damaging Het
Tgm6 G A 2: 129,980,751 (GRCm39) E183K possibly damaging Het
Thsd1 T A 8: 22,748,695 (GRCm39) I461N probably damaging Het
Ttk T G 9: 83,750,120 (GRCm39) S692A probably damaging Het
Twf1 A G 15: 94,483,411 (GRCm39) M99T probably damaging Het
Uchl3 T A 14: 101,904,443 (GRCm39) L89* probably null Het
Uhmk1 A G 1: 170,034,760 (GRCm39) V316A probably damaging Het
Unc80 A G 1: 66,567,052 (GRCm39) N886S possibly damaging Het
Vash2 G T 1: 190,699,115 (GRCm39) probably benign Het
Vmn1r200 G A 13: 22,579,718 (GRCm39) E174K probably benign Het
Vps16 T C 2: 130,279,632 (GRCm39) probably null Het
Wdr73 T C 7: 80,541,594 (GRCm39) E316G possibly damaging Het
Xpo1 T C 11: 23,244,682 (GRCm39) V1020A possibly damaging Het
Ylpm1 T A 12: 85,075,886 (GRCm39) N870K probably benign Het
Zfhx4 C T 3: 5,466,048 (GRCm39) Q2069* probably null Het
Zfp1005 T A 2: 150,110,044 (GRCm39) C245S possibly damaging Het
Zfp512b C A 2: 181,226,757 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GCATTTAAGTCAGGAGAGTGCTTACCA -3'
(R):5'- GACAGCTCCTTGTGAAGTGTATGGAAA -3'

Sequencing Primer
(F):5'- TTGGAAGATTATCTCTACCCAGACAC -3'
(R):5'- TCATAGGCCGTGGGGAAC -3'
Posted On 2013-06-12