Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Ciita'

568951

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

045378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10297923-10346282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10330152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 812 (R812H)

Ref Sequence

ENSEMBL: ENSMUSP00000023147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023147] [ENSMUST00000184863] [ENSMUST00000230146] [ENSMUST00000230395] [ENSMUST00000230450]

AlphaFold

P79621

Predicted Effect

probably damaging
Transcript: ENSMUST00000023147
AA Change: R812H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: R812H

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Dexa_ind	1	95	4.6e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000230146
AA Change: R809H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230395
AA Change: R889H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230450
AA Change: R788H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	possibly damaging	Het

Other mutations in Ciita

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTTACCAGGTACCTGAAGCG -3'
(R):5'- GGCAATGGTTACCTTTCTCTGG -3'

Sequencing Primer
(F):5'- TACCTGAAGCGCCTGAAGCTG -3'
(R):5'- GCCCTCAGTATTGTCATCTTATAATG -3'

Posted On

2019-09-13