Mutagenetix > Incidental Mutation

Incidental Mutation 'R5821:Ciita'

449954

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

043401-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10480059-10528418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10511805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 648 (E648V)

Ref Sequence

ENSEMBL: ENSMUSP00000154946 (fasta)

Gene Model

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

AlphaFold

P79621

Predicted Effect

probably benign
Transcript: ENSMUST00000023147
AA Change: E651V

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: E651V

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

possibly damaging
Transcript: ENSMUST00000230146
AA Change: E648V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230395
AA Change: E728V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230450
AA Change: E627V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230533

Meta Mutation Damage Score

0.1382

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

100% (55/55)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,796,446	V278D	possibly damaging	Het
Acacb	A	G	5: 114,184,106	D227G	possibly damaging	Het
Akap9	A	G	5: 4,046,064	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,528,848	E564D	probably damaging	Het
Cers2	G	A	3: 95,321,697		probably benign	Het
Cfap161	A	G	7: 83,775,980	I301T	probably benign	Het
Cir1	C	T	2: 73,312,460	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,590,484	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,682	F415L	probably benign	Het
Dnah7b	A	G	1: 46,142,132	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,084,728	P809H	probably damaging	Het
Fuca1	T	A	4: 135,922,962		probably null	Het
Gm20388	A	T	8: 122,900,633	*98R	probably null	Het
Gm26796	G	A	12: 80,758,790	R237C	unknown	Het
Idua	A	G	5: 108,679,734	Y138C	probably benign	Het
Ighd	A	T	12: 113,409,633	L240H	probably benign	Het
Ing2	C	G	8: 47,668,826	C229S	probably benign	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kctd8	A	T	5: 69,110,485	N427K	probably benign	Het
Kif16b	T	C	2: 142,702,666	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,289,845		probably benign	Het
Krt82	T	A	15: 101,548,385	R187*	probably null	Het
Lrrk2	T	C	15: 91,709,390		probably null	Het
M1ap	T	C	6: 82,968,102	Y126H	probably benign	Het
Mmel1	A	G	4: 154,885,587	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,167,869	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,491,220	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,708,499	F95L	probably damaging	Het
Nutm2	A	G	13: 50,469,855	Y196C	probably benign	Het
Oxtr	A	G	6: 112,489,496	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,749,115		probably null	Het
Pde5a	T	C	3: 122,817,955	I514T	probably benign	Het
Pign	A	G	1: 105,589,063	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,155,736	S407G	probably benign	Het
Ppfia3	G	A	7: 45,353,616	T372I	probably damaging	Het
Prrc2b	A	T	2: 32,212,132	E739V	probably damaging	Het
Scn7a	T	C	2: 66,743,703	E192G	probably damaging	Het
Slmap	T	C	14: 26,462,280	D316G	probably damaging	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259		probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tgm2	T	A	2: 158,143,054	Y44F	possibly damaging	Het
Tmc8	C	A	11: 117,792,629	S670*	probably null	Het
Tmem145	A	G	7: 25,315,521	D523G	probably benign	Het
Trove2	A	G	1: 143,766,765	V209A	probably benign	Het
Vmn2r115	G	A	17: 23,347,963	G483E	probably 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
R2017:Ciita	UTSW	16	10511676	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
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'- AGCTACCTTGTACACTTACAGG -3'
(R):5'- CTCGAGGCTGGAAAACTAATCC -3'

Sequencing Primer
(F):5'- GACTCTATGTCAGCCTGCTAGG -3'
(R):5'- TCCAGCCAGAAAGCGTGGTAC -3'

Posted On

2016-12-20