Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Ciita'

197764

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10480059-10528418 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 10513288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155002 (fasta)

Gene Model

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

AlphaFold

P79621

Predicted Effect

probably null
Transcript: ENSMUST00000023147

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504

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 null
Transcript: ENSMUST00000230146

Predicted Effect

probably null
Transcript: ENSMUST00000230395

Predicted Effect

probably null
Transcript: ENSMUST00000230450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230533

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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
2900092C05Rik	T	G	7: 12,512,580 (GRCm38)	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579 (GRCm38)		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144 (GRCm38)	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296 (GRCm38)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409 (GRCm38)	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776 (GRCm38)		probably null	Het
Adamts7	T	C	9: 90,188,798 (GRCm38)		probably benign	Het
Adgrf3	G	A	5: 30,202,229 (GRCm38)		probably benign	Het
Aldh6a1	T	C	12: 84,441,770 (GRCm38)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752 (GRCm38)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905 (GRCm38)	R291Q	probably benign	Het
Ano2	C	T	6: 125,796,264 (GRCm38)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,812,566 (GRCm38)	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922 (GRCm38)	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283 (GRCm38)	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593 (GRCm38)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272 (GRCm38)	M253V	probably benign	Het
Braf	T	C	6: 39,665,083 (GRCm38)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,901,962 (GRCm38)	P716T	probably benign	Het
C7	T	A	15: 5,012,149 (GRCm38)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086 (GRCm38)	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963 (GRCm38)		probably null	Het
Chgb	A	T	2: 132,792,800 (GRCm38)	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664 (GRCm38)	Y313C	probably damaging	Het
Clec12b	A	T	6: 129,380,640 (GRCm38)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496 (GRCm38)	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843 (GRCm38)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281 (GRCm38)	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409 (GRCm38)		probably benign	Het
Cyp2c55	T	A	19: 39,011,081 (GRCm38)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395 (GRCm38)	D414E	probably damaging	Het
Ddx47	T	C	6: 135,011,740 (GRCm38)		probably benign	Het
Dlg1	A	G	16: 31,842,822 (GRCm38)		probably null	Het
Dnah5	C	A	15: 28,230,463 (GRCm38)	S169*	probably null	Het
Dock4	C	A	12: 40,755,810 (GRCm38)	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821 (GRCm38)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530 (GRCm38)	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526 (GRCm38)		probably benign	Het
Fancm	A	T	12: 65,099,293 (GRCm38)	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,732,226 (GRCm38)		probably benign	Het
Fat1	G	A	8: 45,010,545 (GRCm38)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638 (GRCm38)	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673 (GRCm38)		probably benign	Het
Fermt1	C	T	2: 132,925,022 (GRCm38)	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220 (GRCm38)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975 (GRCm38)	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674 (GRCm38)	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231 (GRCm38)		probably benign	Het
Gpd2	A	C	2: 57,355,774 (GRCm38)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350 (GRCm38)	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807 (GRCm38)	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172 (GRCm38)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412 (GRCm38)		probably null	Het
Irx4	G	T	13: 73,265,576 (GRCm38)	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901 (GRCm38)		probably benign	Het
Lama3	T	C	18: 12,441,107 (GRCm38)	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293 (GRCm38)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829 (GRCm38)		probably null	Het
Lrp5	T	C	19: 3,620,191 (GRCm38)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974 (GRCm38)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137 (GRCm38)	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273 (GRCm38)	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483 (GRCm38)		probably null	Het
Mfsd2b	T	A	12: 4,870,536 (GRCm38)	K94*	probably null	Het
Micall2	A	G	5: 139,719,342 (GRCm38)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,897,407 (GRCm38)	T95A	possibly damaging	Het
Myo15	A	T	11: 60,506,006 (GRCm38)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503 (GRCm38)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580 (GRCm38)	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668 (GRCm38)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299 (GRCm38)	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543 (GRCm38)	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982 (GRCm38)		probably null	Het
Oas1g	G	A	5: 120,882,006 (GRCm38)	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750 (GRCm38)	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043 (GRCm38)	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511 (GRCm38)	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628 (GRCm38)	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388 (GRCm38)		probably null	Het
Olfr646	G	T	7: 104,106,689 (GRCm38)	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029 (GRCm38)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089 (GRCm38)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666 (GRCm38)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341 (GRCm38)	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593 (GRCm38)		probably benign	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253 (GRCm38)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115 (GRCm38)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470 (GRCm38)	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572 (GRCm38)		probably benign	Het
Sf3b3	A	T	8: 110,837,374 (GRCm38)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627 (GRCm38)		probably null	Het
Shkbp1	A	T	7: 27,345,326 (GRCm38)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260 (GRCm38)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199 (GRCm38)	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384 (GRCm38)	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197 (GRCm38)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592 (GRCm38)	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484 (GRCm38)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988 (GRCm38)	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112 (GRCm38)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978 (GRCm38)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157 (GRCm38)	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561 (GRCm38)		probably null	Het
Ttc6	A	G	12: 57,674,677 (GRCm38)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171 (GRCm38)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927 (GRCm38)	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112 (GRCm38)		probably benign	Het
Vmn1r223	A	G	13: 23,249,868 (GRCm38)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662 (GRCm38)	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053 (GRCm38)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,082,095 (GRCm38)	T615S	probably damaging	Het

Other mutations in Ciita

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Ciita	APN	16	10,510,727 (GRCm38)	missense	probably damaging	0.99
IGL01830:Ciita	APN	16	10,521,051 (GRCm38)	missense	probably damaging	1.00
IGL02557:Ciita	APN	16	10,512,015 (GRCm38)	missense	probably damaging	1.00
IGL02634:Ciita	APN	16	10,508,713 (GRCm38)	missense	probably damaging	1.00
IGL03057:Ciita	APN	16	10,520,959 (GRCm38)	splice site	probably benign
IGL03403:Ciita	APN	16	10,503,872 (GRCm38)	missense	probably damaging	1.00
deshabille	UTSW	16	10,509,207 (GRCm38)	splice site	probably null
oddball	UTSW	16	10,503,948 (GRCm38)	critical splice donor site	probably null
sisal	UTSW	16	10,513,288 (GRCm38)	critical splice donor site	probably null
R0001:Ciita	UTSW	16	10,514,433 (GRCm38)	splice site	probably benign
R0138:Ciita	UTSW	16	10,512,270 (GRCm38)	missense	probably damaging	1.00
R0583:Ciita	UTSW	16	10,523,804 (GRCm38)	critical splice donor site	probably null
R1468:Ciita	UTSW	16	10,513,288 (GRCm38)	critical splice donor site	probably null
R1470:Ciita	UTSW	16	10,514,468 (GRCm38)	missense	possibly damaging	0.75
R1470:Ciita	UTSW	16	10,514,468 (GRCm38)	missense	possibly damaging	0.75
R1888:Ciita	UTSW	16	10,511,084 (GRCm38)	missense	probably damaging	1.00
R1888:Ciita	UTSW	16	10,511,084 (GRCm38)	missense	probably damaging	1.00
R2017:Ciita	UTSW	16	10,511,676 (GRCm38)	missense	probably damaging	1.00
R2072:Ciita	UTSW	16	10,518,353 (GRCm38)	missense	probably benign	0.16
R2410:Ciita	UTSW	16	10,510,704 (GRCm38)	missense	probably damaging	0.99
R4779:Ciita	UTSW	16	10,511,366 (GRCm38)	missense	probably damaging	1.00
R5151:Ciita	UTSW	16	10,523,730 (GRCm38)	missense	probably damaging	1.00
R5233:Ciita	UTSW	16	10,509,401 (GRCm38)	missense	possibly damaging	0.95
R5363:Ciita	UTSW	16	10,512,167 (GRCm38)	missense	probably damaging	1.00
R5431:Ciita	UTSW	16	10,523,792 (GRCm38)	missense	probably damaging	1.00
R5821:Ciita	UTSW	16	10,511,805 (GRCm38)	missense	possibly damaging	0.77
R6085:Ciita	UTSW	16	10,512,165 (GRCm38)	missense	probably benign	0.08
R6088:Ciita	UTSW	16	10,511,931 (GRCm38)	missense	probably damaging	1.00
R6241:Ciita	UTSW	16	10,511,903 (GRCm38)	missense	probably damaging	1.00
R6354:Ciita	UTSW	16	10,523,746 (GRCm38)	missense	probably damaging	1.00
R6502:Ciita	UTSW	16	10,511,910 (GRCm38)	missense	probably damaging	1.00
R6553:Ciita	UTSW	16	10,511,745 (GRCm38)	missense	probably benign	0.00
R6585:Ciita	UTSW	16	10,511,745 (GRCm38)	missense	probably benign	0.00
R6916:Ciita	UTSW	16	10,509,207 (GRCm38)	splice site	probably null
R6937:Ciita	UTSW	16	10,512,491 (GRCm38)	splice site	probably null
R7007:Ciita	UTSW	16	10,511,307 (GRCm38)	missense	probably damaging	1.00
R7219:Ciita	UTSW	16	10,512,257 (GRCm38)	missense	probably benign	0.00
R7326:Ciita	UTSW	16	10,512,288 (GRCm38)	missense	probably damaging	1.00
R8314:Ciita	UTSW	16	10,510,988 (GRCm38)	missense	probably damaging	0.99
R8772:Ciita	UTSW	16	10,480,162 (GRCm38)	missense	probably damaging	1.00
R9102:Ciita	UTSW	16	10,506,701 (GRCm38)	missense	probably benign	0.00
R9213:Ciita	UTSW	16	10,501,878 (GRCm38)	missense	probably damaging	1.00
R9290:Ciita	UTSW	16	10,508,649 (GRCm38)	missense	probably damaging	1.00
R9296:Ciita	UTSW	16	10,503,948 (GRCm38)	critical splice donor site	probably null
R9329:Ciita	UTSW	16	10,506,707 (GRCm38)	missense	probably damaging	0.98
R9418:Ciita	UTSW	16	10,501,901 (GRCm38)	nonsense	probably null
R9496:Ciita	UTSW	16	10,480,145 (GRCm38)	start codon destroyed	probably null	1.00
R9529:Ciita	UTSW	16	10,510,776 (GRCm38)	missense	probably benign	0.44
RF019:Ciita	UTSW	16	10,506,747 (GRCm38)	missense	probably damaging	0.98
Z1176:Ciita	UTSW	16	10,508,700 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGCCTCCTTGAGTGATACAATG -3'
(R):5'- TCCCACCAGTTAGTAGGTGCAGAAG -3'

Sequencing Primer
(F):5'- TACAATGGCATTATGGGAGTCC -3'
(R):5'- CTTCAGCCGTGAAGAGACTG -3'

Posted On

2014-05-23