Incidental Mutation 'R1468:Ciita'
ID 197764
Institutional Source Beutler Lab
Gene Symbol Ciita
Ensembl Gene ENSMUSG00000022504
Gene Name class II transactivator
Synonyms C2ta, Gm9475
MMRRC Submission 039521-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1468 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10297923-10346282 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 10331152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023147] [ENSMUST00000184863] [ENSMUST00000230146] [ENSMUST00000230395] [ENSMUST00000230450]
AlphaFold P79621
Predicted Effect probably null
Transcript: ENSMUST00000023147
SMART Domains Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504

DomainStartEndE-ValueType
low complexity region 216 230 N/A INTRINSIC
Pfam:NACHT 362 533 1.8e-44 PFAM
low complexity region 847 861 N/A INTRINSIC
LRR 931 961 8.53e0 SMART
LRR 962 989 7.37e-4 SMART
LRR 991 1018 1.25e-6 SMART
LRR 1019 1046 2.36e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184863
SMART Domains Protein: ENSMUSP00000139108
Gene: ENSMUSG00000038055

DomainStartEndE-ValueType
Pfam:Dexa_ind 1 95 4.6e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229906
Predicted Effect probably null
Transcript: ENSMUST00000230146
Predicted Effect probably null
Transcript: ENSMUST00000230395
Predicted Effect probably null
Transcript: ENSMUST00000230450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230533
Meta Mutation Damage Score 0.9591 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 98% (106/108)
MGI Phenotype FUNCTION: This gene encodes a member of the NOD-like receptor protein family. This protein acts as a transcriptional coactivator and component of the enhanceosome complex to stimulate transcription of MHC class II genes in the adaptive immune response. This protein may also regulate the transcription of MHC class I genes. Mutations in the human gene have been linked to a rare immunodeficiency, bare lymphocyte syndrome, and homozygous knockout mice exhibit many features of this disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous targeted mutants are immunologically abnormal with extremely little MHC class II expression, greatly reduced serum IgG, and impaired T-dependent antigen responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T G 7: 12,246,507 (GRCm39) M1R probably null Het
4933440N22Rik C A 6: 117,884,540 (GRCm39) probably benign Het
5031439G07Rik G T 15: 84,837,345 (GRCm39) P280T probably damaging Het
Abca2 C T 2: 25,331,308 (GRCm39) S1267L probably damaging Het
Acsl3 A T 1: 78,684,126 (GRCm39) R719S probably benign Het
Adam1a A T 5: 121,657,839 (GRCm39) probably null Het
Adamts7 T C 9: 90,070,851 (GRCm39) probably benign Het
Adgrf3 G A 5: 30,407,227 (GRCm39) probably benign Het
Aldh6a1 T C 12: 84,488,544 (GRCm39) E89G possibly damaging Het
Ankrd36 A G 11: 5,525,752 (GRCm39) Y238C probably damaging Het
Ankrd65 G A 4: 155,877,362 (GRCm39) R291Q probably benign Het
Ano2 C T 6: 125,773,227 (GRCm39) R287W probably damaging Het
Ap1ar A G 3: 127,606,215 (GRCm39) I125T probably benign Het
Arid1b A G 17: 5,293,197 (GRCm39) D705G probably damaging Het
Asb18 T A 1: 89,924,005 (GRCm39) N86I probably damaging Het
Bicral A T 17: 47,135,519 (GRCm39) S564T probably benign Het
Bpifa6 A G 2: 153,831,192 (GRCm39) M253V probably benign Het
Braf T C 6: 39,642,017 (GRCm39) D194G probably damaging Het
Brinp3 C A 1: 146,777,700 (GRCm39) P716T probably benign Het
C7 T A 15: 5,041,631 (GRCm39) Y425F probably damaging Het
Ccdc102a T C 8: 95,632,714 (GRCm39) K421R probably benign Het
Cep89 G A 7: 35,120,388 (GRCm39) probably null Het
Chgb A T 2: 132,634,720 (GRCm39) M221L probably benign Het
Chst14 A G 2: 118,758,145 (GRCm39) Y313C probably damaging Het
Clec12b A T 6: 129,357,603 (GRCm39) I85N probably damaging Het
Clec2e G T 6: 129,070,459 (GRCm39) Y187* probably null Het
Crbn T C 6: 106,767,804 (GRCm39) K229E probably benign Het
Ctdspl2 A T 2: 121,811,762 (GRCm39) Q201L probably benign Het
Ctrb1 G T 8: 112,416,041 (GRCm39) probably benign Het
Cyp2c55 T A 19: 38,999,525 (GRCm39) V77E probably damaging Het
Cyp2c69 A C 19: 39,837,839 (GRCm39) D414E probably damaging Het
Ddx47 T C 6: 134,988,703 (GRCm39) probably benign Het
Dlg1 A G 16: 31,661,640 (GRCm39) probably null Het
Dnah5 C A 15: 28,230,609 (GRCm39) S169* probably null Het
Dock4 C A 12: 40,805,809 (GRCm39) T927K probably benign Het
Esrp2 T G 8: 106,860,453 (GRCm39) D259A probably damaging Het
Fam169a A G 13: 97,255,038 (GRCm39) K418R probably benign Het
Fancm A T 12: 65,146,067 (GRCm39) I597F probably damaging Het
Fastkd2 G T 1: 63,771,385 (GRCm39) probably benign Het
Fat1 G A 8: 45,463,582 (GRCm39) V1375M probably damaging Het
Fbxw10 A T 11: 62,753,464 (GRCm39) D486V probably damaging Het
Fech C T 18: 64,603,744 (GRCm39) probably benign Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Foxp1 T A 6: 98,955,181 (GRCm39) H195L possibly damaging Het
Gfra1 T A 19: 58,440,407 (GRCm39) I138L probably benign Het
Gm12185 T C 11: 48,806,501 (GRCm39) D230G possibly damaging Het
Gm14403 T A 2: 177,199,024 (GRCm39) probably benign Het
Gpd2 A C 2: 57,245,786 (GRCm39) T439P probably damaging Het
Gpm6a A T 8: 55,490,385 (GRCm39) K20N probably damaging Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hectd4 A T 5: 121,487,235 (GRCm39) D3410V possibly damaging Het
Il17b G A 18: 61,823,483 (GRCm39) probably null Het
Irx4 G T 13: 73,413,695 (GRCm39) R55L possibly damaging Het
Itgav A T 2: 83,596,245 (GRCm39) probably benign Het
Lama3 T C 18: 12,574,164 (GRCm39) V582A probably benign Het
Ldhd G T 8: 112,353,925 (GRCm39) A425E possibly damaging Het
Lrp1b C T 2: 40,817,841 (GRCm39) probably null Het
Lrp5 T C 19: 3,670,191 (GRCm39) T638A possibly damaging Het
Lrrk1 A C 7: 65,909,722 (GRCm39) F1996C probably damaging Het
Ly6h G A 15: 75,437,986 (GRCm39) S21L probably benign Het
Mctp1 T C 13: 76,973,392 (GRCm39) V431A probably benign Het
Metap2 C T 10: 93,707,345 (GRCm39) probably null Het
Mfsd2b T A 12: 4,920,536 (GRCm39) K94* probably null Het
Micall2 A G 5: 139,705,097 (GRCm39) L79P probably damaging Het
Mucl2 T C 15: 103,927,673 (GRCm39) T95A possibly damaging Het
Myo15a A T 11: 60,396,832 (GRCm39) T2634S probably damaging Het
Myo5b G T 18: 74,873,574 (GRCm39) V1467L probably damaging Het
Nfic G T 10: 81,256,414 (GRCm39) D105E probably damaging Het
Nrdc T A 4: 108,873,865 (GRCm39) F227Y probably benign Het
Nrp2 A T 1: 62,777,458 (GRCm39) I88F probably damaging Het
Nup160 A T 2: 90,530,887 (GRCm39) H515L probably benign Het
Nup205 G A 6: 35,202,917 (GRCm39) probably null Het
Oas1g G A 5: 121,020,069 (GRCm39) T179I probably benign Het
Ogfr A T 2: 180,236,543 (GRCm39) E376V probably damaging Het
Or2l13 T G 16: 19,306,378 (GRCm39) S263R probably benign Het
Or4a69 A T 2: 89,312,855 (GRCm39) V208D possibly damaging Het
Or4c107 T G 2: 88,789,387 (GRCm39) Y192* probably null Het
Or52d1 G T 7: 103,755,896 (GRCm39) V137F possibly damaging Het
Or5p6 C T 7: 107,631,595 (GRCm39) probably null Het
Pard3b T C 1: 62,384,188 (GRCm39) V851A probably benign Het
Pcdhb16 A T 18: 37,611,142 (GRCm39) Y34F probably damaging Het
Pikfyve T C 1: 65,290,825 (GRCm39) Y1215H probably damaging Het
Pkhd1 A T 1: 20,593,565 (GRCm39) V1516E probably damaging Het
Pla2g4a A T 1: 149,763,344 (GRCm39) probably benign Het
Ptprg A T 14: 12,190,767 (GRCm38) I818F probably benign Het
Ralgapb A G 2: 158,304,173 (GRCm39) E644G possibly damaging Het
Rbm45 A G 2: 76,202,459 (GRCm39) I127M probably damaging Het
Rtp2 T C 16: 23,746,220 (GRCm39) Y157C probably damaging Het
Sema3f A T 9: 107,564,771 (GRCm39) probably benign Het
Sf3b3 A T 8: 111,564,006 (GRCm39) Y329N probably damaging Het
Sfxn1 A G 13: 54,239,646 (GRCm39) probably null Het
Shkbp1 A T 7: 27,044,751 (GRCm39) C447S probably damaging Het
Sipa1l3 A G 7: 29,021,685 (GRCm39) S689P possibly damaging Het
Slc7a8 A G 14: 54,970,656 (GRCm39) S332P probably damaging Het
Slit1 C A 19: 41,596,823 (GRCm39) C1092F probably damaging Het
Slx9 A G 10: 77,333,360 (GRCm39) probably benign Het
Stard9 A G 2: 120,533,678 (GRCm39) I619V possibly damaging Het
Sycp3 T C 10: 88,305,454 (GRCm39) V185A possibly damaging Het
Taar9 A T 10: 23,985,382 (GRCm39) N17K possibly damaging Het
Tbkbp1 T C 11: 97,039,814 (GRCm39) E102G probably damaging Het
Tex44 A G 1: 86,354,834 (GRCm39) N248D probably benign Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Tnpo1 C T 13: 98,986,665 (GRCm39) V781I probably benign Het
Tonsl C T 15: 76,520,761 (GRCm39) probably null Het
Ttc6 A G 12: 57,721,463 (GRCm39) K984R possibly damaging Het
Usp34 A G 11: 23,391,171 (GRCm39) E2263G probably damaging Het
Usp8 A G 2: 126,596,847 (GRCm39) K875E probably damaging Het
Vapb C T 2: 173,603,905 (GRCm39) probably benign Het
Vmn1r223 A G 13: 23,434,038 (GRCm39) I211V possibly damaging Het
Vmn2r81 G A 10: 79,129,496 (GRCm39) V796I probably damaging Het
Wdr90 A T 17: 26,073,027 (GRCm39) V856D probably damaging Het
Wnk2 T A 13: 49,235,571 (GRCm39) T615S probably damaging Het
Other mutations in Ciita
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Ciita APN 16 10,328,591 (GRCm39) missense probably damaging 0.99
IGL01830:Ciita APN 16 10,338,915 (GRCm39) missense probably damaging 1.00
IGL02557:Ciita APN 16 10,329,879 (GRCm39) missense probably damaging 1.00
IGL02634:Ciita APN 16 10,326,577 (GRCm39) missense probably damaging 1.00
IGL03057:Ciita APN 16 10,338,823 (GRCm39) splice site probably benign
IGL03403:Ciita APN 16 10,321,736 (GRCm39) missense probably damaging 1.00
deshabille UTSW 16 10,327,071 (GRCm39) splice site probably null
oddball UTSW 16 10,321,812 (GRCm39) critical splice donor site probably null
sisal UTSW 16 10,331,152 (GRCm39) critical splice donor site probably null
R0001:Ciita UTSW 16 10,332,297 (GRCm39) splice site probably benign
R0138:Ciita UTSW 16 10,330,134 (GRCm39) missense probably damaging 1.00
R0583:Ciita UTSW 16 10,341,668 (GRCm39) critical splice donor site probably null
R1468:Ciita UTSW 16 10,331,152 (GRCm39) critical splice donor site probably null
R1470:Ciita UTSW 16 10,332,332 (GRCm39) missense possibly damaging 0.75
R1470:Ciita UTSW 16 10,332,332 (GRCm39) missense possibly damaging 0.75
R1888:Ciita UTSW 16 10,328,948 (GRCm39) missense probably damaging 1.00
R1888:Ciita UTSW 16 10,328,948 (GRCm39) missense probably damaging 1.00
R2017:Ciita UTSW 16 10,329,540 (GRCm39) missense probably damaging 1.00
R2072:Ciita UTSW 16 10,336,217 (GRCm39) missense probably benign 0.16
R2410:Ciita UTSW 16 10,328,568 (GRCm39) missense probably damaging 0.99
R4779:Ciita UTSW 16 10,329,230 (GRCm39) missense probably damaging 1.00
R5151:Ciita UTSW 16 10,341,594 (GRCm39) missense probably damaging 1.00
R5233:Ciita UTSW 16 10,327,265 (GRCm39) missense possibly damaging 0.95
R5363:Ciita UTSW 16 10,330,031 (GRCm39) missense probably damaging 1.00
R5431:Ciita UTSW 16 10,341,656 (GRCm39) missense probably damaging 1.00
R5821:Ciita UTSW 16 10,329,669 (GRCm39) missense possibly damaging 0.77
R6085:Ciita UTSW 16 10,330,029 (GRCm39) missense probably benign 0.08
R6088:Ciita UTSW 16 10,329,795 (GRCm39) missense probably damaging 1.00
R6241:Ciita UTSW 16 10,329,767 (GRCm39) missense probably damaging 1.00
R6354:Ciita UTSW 16 10,341,610 (GRCm39) missense probably damaging 1.00
R6502:Ciita UTSW 16 10,329,774 (GRCm39) missense probably damaging 1.00
R6553:Ciita UTSW 16 10,329,609 (GRCm39) missense probably benign 0.00
R6585:Ciita UTSW 16 10,329,609 (GRCm39) missense probably benign 0.00
R6916:Ciita UTSW 16 10,327,071 (GRCm39) splice site probably null
R6937:Ciita UTSW 16 10,330,355 (GRCm39) splice site probably null
R7007:Ciita UTSW 16 10,329,171 (GRCm39) missense probably damaging 1.00
R7219:Ciita UTSW 16 10,330,121 (GRCm39) missense probably benign 0.00
R7326:Ciita UTSW 16 10,330,152 (GRCm39) missense probably damaging 1.00
R8314:Ciita UTSW 16 10,328,852 (GRCm39) missense probably damaging 0.99
R8772:Ciita UTSW 16 10,298,026 (GRCm39) missense probably damaging 1.00
R9102:Ciita UTSW 16 10,324,565 (GRCm39) missense probably benign 0.00
R9213:Ciita UTSW 16 10,319,742 (GRCm39) missense probably damaging 1.00
R9290:Ciita UTSW 16 10,326,513 (GRCm39) missense probably damaging 1.00
R9296:Ciita UTSW 16 10,321,812 (GRCm39) critical splice donor site probably null
R9329:Ciita UTSW 16 10,324,571 (GRCm39) missense probably damaging 0.98
R9418:Ciita UTSW 16 10,319,765 (GRCm39) nonsense probably null
R9496:Ciita UTSW 16 10,298,009 (GRCm39) start codon destroyed probably null 1.00
R9529:Ciita UTSW 16 10,328,640 (GRCm39) missense probably benign 0.44
RF019:Ciita UTSW 16 10,324,611 (GRCm39) missense probably damaging 0.98
Z1176:Ciita UTSW 16 10,326,564 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGGCCTCCTTGAGTGATACAATG -3'
(R):5'- TCCCACCAGTTAGTAGGTGCAGAAG -3'

Sequencing Primer
(F):5'- TACAATGGCATTATGGGAGTCC -3'
(R):5'- CTTCAGCCGTGAAGAGACTG -3'
Posted On 2014-05-23