Incidental Mutation 'R5431:Ciita'
ID 428072
Institutional Source Beutler Lab
Gene Symbol Ciita
Ensembl Gene ENSMUSG00000022504
Gene Name class II transactivator
Synonyms C2ta, Gm9475
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 10297923-10346282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10341656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1020 (R1020C)
Ref Sequence ENSEMBL: ENSMUSP00000154946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023147] [ENSMUST00000184863] [ENSMUST00000230146] [ENSMUST00000230395] [ENSMUST00000230450]
AlphaFold P79621
Predicted Effect probably damaging
Transcript: ENSMUST00000023147
AA Change: R1023C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: R1023C

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 damaging
Transcript: ENSMUST00000230146
AA Change: R1020C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230395
AA Change: R1100C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000230450
AA Change: R999C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly 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
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
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'- AACTTACTGCCCATGCTGTTG -3'
(R):5'- ACCTGAGGGCACTTCTGAAG -3'

Sequencing Primer
(F):5'- AAGTAGTGGCCTCAACATTCTGG -3'
(R):5'- ACTTCTGAAGGCTGGAGGC -3'
Posted On 2016-09-01