Mutagenetix > Incidental Mutation

Incidental Mutation 'R2017:Ciita'

223285

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

040026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2017 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10480059-10528418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10511676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 584 (L584P)

Ref Sequence

ENSEMBL: ENSMUSP00000155002 (fasta)

Gene Model

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

AlphaFold

P79621

Predicted Effect

probably damaging
Transcript: ENSMUST00000023147
AA Change: L608P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: L608P

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

noncoding transcript
Transcript: ENSMUST00000229906

Predicted Effect

probably damaging
Transcript: ENSMUST00000230146
AA Change: L605P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230395
AA Change: L685P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230450
AA Change: L584P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230533

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 165,079,026	D29G	unknown	Het
Abca13	A	T	11: 9,290,619	L827F	probably damaging	Het
Abcc1	T	A	16: 14,461,204	V1126E	probably damaging	Het
Abcc12	A	G	8: 86,563,988	L41S	probably damaging	Het
Adgrg7	T	C	16: 56,732,806	T643A	probably benign	Het
Angpt2	T	C	8: 18,705,731	N240S	probably damaging	Het
Apc	A	G	18: 34,313,602	T1150A	probably benign	Het
Apob	G	A	12: 8,007,751	D2078N	possibly damaging	Het
Apool	T	A	X: 112,364,561	S234T	probably benign	Het
Ascc3	C	T	10: 50,690,211	P751S	probably benign	Het
Astn2	G	A	4: 65,540,941	T1079I	probably damaging	Het
Atp8b1	T	C	18: 64,540,334	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,836,621	D189G	probably damaging	Het
Bcas1	A	C	2: 170,348,161		probably null	Het
Btk	T	C	X: 134,547,601	D355G	probably benign	Het
C2cd4c	A	G	10: 79,612,989	V108A	possibly damaging	Het
Cbfa2t2	T	C	2: 154,517,807	L264P	probably damaging	Het
Cd22	A	T	7: 30,872,780	L423Q	probably damaging	Het
Cep128	T	C	12: 91,366,464	D9G	probably damaging	Het
Cer1	A	T	4: 82,882,883	V181D	probably damaging	Het
Cmss1	T	C	16: 57,316,278	D77G	probably damaging	Het
Col4a2	T	C	8: 11,445,086	F1515L	probably benign	Het
Dcaf1	T	A	9: 106,839,088	D360E	probably benign	Het
Dcaf1	A	G	9: 106,847,923	E536G	probably damaging	Het
Dnah2	T	A	11: 69,437,070	I3370F	probably damaging	Het
Dsg1c	T	C	18: 20,266,196	V119A	possibly damaging	Het
Edn3	A	G	2: 174,778,662	E103G	probably benign	Het
Efemp1	G	T	11: 28,921,613	R376L	probably damaging	Het
Eid1	A	G	2: 125,673,201	M4V	probably benign	Het
Emilin3	G	A	2: 160,909,610	R170C	possibly damaging	Het
Epx	T	C	11: 87,874,337	D178G	probably damaging	Het
Fam208b	A	T	13: 3,576,770	I1060K	probably benign	Het
Fam49a	T	A	12: 12,362,361	V208D	probably damaging	Het
Fkbp10	G	A	11: 100,421,673	V252I	possibly damaging	Het
Flnc	G	A	6: 29,443,797		probably null	Het
Fsip2	A	G	2: 82,982,732	K3132E	possibly damaging	Het
Gla	C	T	X: 134,596,322	A39T	probably damaging	Het
H2-Ke6	A	T	17: 34,026,213	M259K	probably damaging	Het
Hivep2	C	T	10: 14,130,757	T1033M	probably damaging	Het
Ikzf4	C	T	10: 128,634,157	G498D	probably damaging	Het
Impg1	T	C	9: 80,440,667	Y95C	probably damaging	Het
Ino80c	T	A	18: 24,111,753	K136*	probably null	Het
Iqsec1	A	C	6: 90,689,930	H508Q	probably benign	Het
Itgb3	A	G	11: 104,637,962	H305R	possibly damaging	Het
Jup	T	A	11: 100,386,341	T14S	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klf12	T	C	14: 100,022,637	R219G	possibly damaging	Het
Klhl42	G	T	6: 147,107,793	V377L	probably benign	Het
Large1	A	G	8: 72,852,197	F460S	probably damaging	Het
Loxl3	A	T	6: 83,048,977	D402V	probably damaging	Het
Lrrc37a	T	A	11: 103,501,125	Y1158F	probably benign	Het
Map2	T	A	1: 66,412,799	S365T	probably damaging	Het
Mapk8ip1	A	G	2: 92,391,034		probably null	Het
Med26	A	G	8: 72,496,947	S103P	probably damaging	Het
Muc4	T	C	16: 32,751,303	S394P	possibly damaging	Het
Nle1	G	T	11: 82,905,547	P166Q	probably damaging	Het
Obox5	T	C	7: 15,758,882	I254T	probably benign	Het
Olfr1288	G	T	2: 111,479,187	M134I	probably benign	Het
Olfr371	T	C	8: 85,230,744	L83P	possibly damaging	Het
Olfr406	T	A	11: 74,270,333	W315R	probably benign	Het
Olfr592	T	C	7: 103,186,930	F110L	probably benign	Het
Pacs2	A	T	12: 113,062,457	N545Y	probably damaging	Het
Palld	T	C	8: 61,684,765	E652G	probably damaging	Het
Pgm5	T	C	19: 24,824,312	N184S	probably benign	Het
Pitpnm1	T	C	19: 4,111,873	V955A	probably benign	Het
Plcb1	T	A	2: 135,362,420	I898N	possibly damaging	Het
Pramef12	A	G	4: 144,394,674	V260A	possibly damaging	Het
Prr36	T	A	8: 4,215,205	T182S	probably benign	Het
Prss35	A	G	9: 86,755,512	S112G	probably benign	Het
Ptprj	C	T	2: 90,464,614	V417M	probably damaging	Het
Ptprm	G	T	17: 66,957,153		probably null	Het
Rasgrp2	T	C	19: 6,413,165	V498A	probably benign	Het
Rfx6	A	G	10: 51,721,604	N513S	possibly damaging	Het
Rhbdf1	A	G	11: 32,210,471	I693T	probably damaging	Het
Scn9a	T	C	2: 66,515,321	T1143A	probably damaging	Het
Spata17	A	G	1: 187,048,453	S366P	possibly damaging	Het
Svep1	A	G	4: 58,070,568	L2406P	probably benign	Het
Tgfb2	A	T	1: 186,630,765	Y287*	probably null	Het
Trip11	A	T	12: 101,885,360	V815E	probably benign	Het
Trp53bp2	G	T	1: 182,449,015	V854L	probably benign	Het
Ttc30a1	A	G	2: 75,981,457	L94P	probably benign	Het
Vmn1r78	T	C	7: 12,153,343	S294P	possibly damaging	Het
Vmn2r86	T	C	10: 130,446,713	K678R	probably benign	Het
Yeats2	T	A	16: 20,159,181	N138K	probably benign	Het
Zufsp	A	T	10: 33,927,464	N541K	possibly damaging	Het

Other mutations in Ciita

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Ciita	APN	16	10510727	missense	probably damaging	0.99
IGL01830:Ciita	APN	16	10521051	missense	probably damaging	1.00
IGL02557:Ciita	APN	16	10512015	missense	probably damaging	1.00
IGL02634:Ciita	APN	16	10508713	missense	probably damaging	1.00
IGL03057:Ciita	APN	16	10520959	splice site	probably benign
IGL03403:Ciita	APN	16	10503872	missense	probably damaging	1.00
deshabille	UTSW	16	10509207	splice site	probably null
oddball	UTSW	16	10503948	critical splice donor site	probably null
sisal	UTSW	16	10513288	critical splice donor site	probably null
R0001:Ciita	UTSW	16	10514433	splice site	probably benign
R0138:Ciita	UTSW	16	10512270	missense	probably damaging	1.00
R0583:Ciita	UTSW	16	10523804	critical splice donor site	probably null
R1468:Ciita	UTSW	16	10513288	critical splice donor site	probably null
R1468:Ciita	UTSW	16	10513288	critical splice donor site	probably null
R1470:Ciita	UTSW	16	10514468	missense	possibly damaging	0.75
R1470:Ciita	UTSW	16	10514468	missense	possibly damaging	0.75
R1888:Ciita	UTSW	16	10511084	missense	probably damaging	1.00
R1888:Ciita	UTSW	16	10511084	missense	probably damaging	1.00
R2072:Ciita	UTSW	16	10518353	missense	probably benign	0.16
R2410:Ciita	UTSW	16	10510704	missense	probably damaging	0.99
R4779:Ciita	UTSW	16	10511366	missense	probably damaging	1.00
R5151:Ciita	UTSW	16	10523730	missense	probably damaging	1.00
R5233:Ciita	UTSW	16	10509401	missense	possibly damaging	0.95
R5363:Ciita	UTSW	16	10512167	missense	probably damaging	1.00
R5431:Ciita	UTSW	16	10523792	missense	probably damaging	1.00
R5821:Ciita	UTSW	16	10511805	missense	possibly damaging	0.77
R6085:Ciita	UTSW	16	10512165	missense	probably benign	0.08
R6088:Ciita	UTSW	16	10511931	missense	probably damaging	1.00
R6241:Ciita	UTSW	16	10511903	missense	probably damaging	1.00
R6354:Ciita	UTSW	16	10523746	missense	probably damaging	1.00
R6502:Ciita	UTSW	16	10511910	missense	probably damaging	1.00
R6553:Ciita	UTSW	16	10511745	missense	probably benign	0.00
R6585:Ciita	UTSW	16	10511745	missense	probably benign	0.00
R6916:Ciita	UTSW	16	10509207	splice site	probably null
R6937:Ciita	UTSW	16	10512491	splice site	probably null
R7007:Ciita	UTSW	16	10511307	missense	probably damaging	1.00
R7219:Ciita	UTSW	16	10512257	missense	probably benign	0.00
R7326:Ciita	UTSW	16	10512288	missense	probably damaging	1.00
R8314:Ciita	UTSW	16	10510988	missense	probably damaging	0.99
R8772:Ciita	UTSW	16	10480162	missense	probably damaging	1.00
R9102:Ciita	UTSW	16	10506701	missense	probably benign	0.00
R9213:Ciita	UTSW	16	10501878	missense	probably damaging	1.00
R9290:Ciita	UTSW	16	10508649	missense	probably damaging	1.00
R9296:Ciita	UTSW	16	10503948	critical splice donor site	probably null
R9329:Ciita	UTSW	16	10506707	missense	probably damaging	0.98
R9418:Ciita	UTSW	16	10501901	nonsense	probably null
R9496:Ciita	UTSW	16	10480145	start codon destroyed	probably null	1.00
R9529:Ciita	UTSW	16	10510776	missense	probably benign	0.44
RF019:Ciita	UTSW	16	10506747	missense	probably damaging	0.98
Z1176:Ciita	UTSW	16	10508700	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGAACTCAGGGACAGCG -3'
(R):5'- CCCAGGAAACACTGTAGCAG -3'

Sequencing Primer
(F):5'- AGGGCCAGCCTCTTCTCTG -3'
(R):5'- CCAGGAAACACTGTAGCAGAAAACTG -3'

Posted On

2014-08-25