Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Ciita'

422954

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10480059-10528418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10512167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 769 (H769Y)

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: H772Y

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: H772Y

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: H769Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230395
AA Change: H849Y

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230450
AA Change: H748Y

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230533

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	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
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

Posted On

2016-08-04