Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Ciita'

32270

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

038297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0001 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

10297923-10346282 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 10332297 bp (GRCm39)

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 benign
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 benign
Transcript: ENSMUST00000230146

Predicted Effect

probably benign
Transcript: ENSMUST00000230395

Predicted Effect

probably benign
Transcript: ENSMUST00000230450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230533

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,288,534 (GRCm39)		probably benign	Het
A4galt	A	G	15: 83,112,490 (GRCm39)	F98L	probably benign	Het
Abca4	T	G	3: 121,874,660 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,342,894 (GRCm39)		probably benign	Het
Agbl1	A	T	7: 76,069,611 (GRCm39)	H367L	probably damaging	Het
Apoa4	C	A	9: 46,154,190 (GRCm39)	Q264K	probably benign	Het
Camsap2	A	T	1: 136,210,626 (GRCm39)		probably benign	Het
Cdan1	C	A	2: 120,554,232 (GRCm39)	R939L	probably benign	Het
Ceacam18	G	A	7: 43,286,300 (GRCm39)	V58I	possibly damaging	Het
Clk4	T	A	11: 51,159,592 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,507,105 (GRCm39)	D215G	probably benign	Het
Col11a2	T	C	17: 34,280,586 (GRCm39)	S1218P	probably benign	Het
Col20a1	T	C	2: 180,626,205 (GRCm39)		probably benign	Het
Ctsb	A	G	14: 63,373,071 (GRCm39)	E76G	probably benign	Het
Ctu2	T	C	8: 123,205,659 (GRCm39)	C161R	probably benign	Het
Dhx29	T	C	13: 113,101,090 (GRCm39)	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,338,382 (GRCm39)	T759K	probably damaging	Het
Dmxl1	T	C	18: 50,021,964 (GRCm39)		probably benign	Het
Dpysl3	C	T	18: 43,491,440 (GRCm39)	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,095,864 (GRCm39)	K453*	probably null	Het
Epha7	T	C	4: 28,961,279 (GRCm39)		probably benign	Het
Fat3	T	C	9: 16,289,169 (GRCm39)	D118G	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Foxn4	T	A	5: 114,398,931 (GRCm39)	Q159L	probably damaging	Het
Frs2	G	T	10: 116,910,781 (GRCm39)	H194N	possibly damaging	Het
Fut8	A	T	12: 77,522,089 (GRCm39)	*576L	probably null	Het
Galns	T	C	8: 123,322,622 (GRCm39)		probably benign	Het
Gamt	G	A	10: 80,094,895 (GRCm39)		probably benign	Het
Gpn1	T	A	5: 31,652,961 (GRCm39)		probably benign	Het
Ipcef1	G	T	10: 6,850,600 (GRCm39)	H330Q	probably damaging	Het
Itga4	A	C	2: 79,156,931 (GRCm39)	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,259,787 (GRCm39)	I229V	probably benign	Het
Katnal1	A	G	5: 148,858,085 (GRCm39)	S42P	probably damaging	Het
Kcnu1	A	T	8: 26,349,298 (GRCm39)	D142V	probably damaging	Het
Lig3	C	T	11: 82,681,417 (GRCm39)	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,224,817 (GRCm39)	S344G	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,507,625 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,300,901 (GRCm39)	V1378M	probably damaging	Het
Mki67	T	A	7: 135,302,748 (GRCm39)	D762V	probably damaging	Het
Mmp9	A	G	2: 164,790,303 (GRCm39)	T43A	probably benign	Het
Muc6	T	C	7: 141,227,841 (GRCm39)	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,351,158 (GRCm39)		probably null	Het
Naip5	C	A	13: 100,359,622 (GRCm39)	S538I	probably benign	Het
Nek3	A	T	8: 22,648,628 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,052,585 (GRCm39)	S948P	probably damaging	Het
Nyap2	A	T	1: 81,169,822 (GRCm39)	H193L	probably benign	Het
Or52h1	T	A	7: 103,828,680 (GRCm39)	K312*	probably null	Het
Or9s23	A	G	1: 92,501,183 (GRCm39)	K97E	possibly damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pcdhb11	A	T	18: 37,557,042 (GRCm39)	R791W	probably benign	Het
Pkd1l3	C	A	8: 110,355,265 (GRCm39)		probably benign	Het
Pkn2	A	T	3: 142,534,749 (GRCm39)	V73D	probably benign	Het
Pknox1	A	T	17: 31,818,610 (GRCm39)	H281L	probably damaging	Het
Polr3a	A	G	14: 24,502,257 (GRCm39)		probably benign	Het
Prss38	A	G	11: 59,264,006 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,585,416 (GRCm39)	F783S	probably damaging	Het
Rbm5	T	C	9: 107,619,623 (GRCm39)	R125G	probably damaging	Het
Rnpep	A	G	1: 135,200,223 (GRCm39)		probably benign	Het
Slc1a5	T	A	7: 16,527,562 (GRCm39)		probably null	Het
Slc22a4	G	A	11: 53,918,829 (GRCm39)		probably benign	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Spmip5	G	A	19: 58,777,603 (GRCm39)	A61V	probably damaging	Het
Svep1	G	A	4: 58,066,460 (GRCm39)	T3208I	possibly damaging	Het
Tgm5	G	T	2: 120,908,127 (GRCm39)	D16E	probably damaging	Het
Tpp2	A	G	1: 44,010,886 (GRCm39)	N558D	probably benign	Het
Trappc9	A	T	15: 72,835,511 (GRCm39)	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,692,695 (GRCm39)	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,607,316 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,662,433 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,179,099 (GRCm39)	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,216,448 (GRCm39)	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps39	A	G	2: 120,148,534 (GRCm39)	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,485,112 (GRCm39)	D149G	probably benign	Het
Zfp648	C	T	1: 154,081,032 (GRCm39)	T397M	probably damaging	Het
Zic2	C	A	14: 122,716,369 (GRCm39)	T435K	probably 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
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
R7326:Ciita	UTSW	16	10,330,152 (GRCm39)	missense	probably damaging	1.00
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'- TCCATGAGTCAGACACAGATAGAACCC -3'
(R):5'- GCTCACCTTGTCACTGCCCCAA -3'

Sequencing Primer
(F):5'- tttatcatcctcctgcctcatc -3'
(R):5'- TTGTCACTGCCCCAAGATCAG -3'

Posted On

2013-05-09