Mutagenetix > Incidental Mutation

Incidental Mutation 'R1888:Ciita'

211932

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

039909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10297923-10346282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10328948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 411 (Y411H)

Ref Sequence

ENSEMBL: ENSMUSP00000023147 (fasta)

Gene Model

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

AlphaFold

P79621

Predicted Effect

probably damaging
Transcript: ENSMUST00000023147
AA Change: Y411H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: Y411H

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: Y408H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230395
AA Change: Y488H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230450
AA Change: Y387H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230533

Meta Mutation Damage Score

0.2656

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,960,030 (GRCm39)	M80T	unknown	Het
4930578I06Rik	A	G	14: 64,223,632 (GRCm39)	L48P	probably damaging	Het
Abcc9	A	G	6: 142,625,040 (GRCm39)	S452P	probably benign	Het
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Adgrf5	T	G	17: 43,737,896 (GRCm39)		probably null	Het
Adgrl4	A	G	3: 151,144,914 (GRCm39)	N21S	probably benign	Het
Adss2	A	T	1: 177,612,517 (GRCm39)	Y77*	probably null	Het
Ahnak	A	T	19: 8,984,452 (GRCm39)	D1912V	probably damaging	Het
Ahnak2	A	G	12: 112,740,325 (GRCm39)	M1249T	possibly damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Bbs12	C	A	3: 37,374,712 (GRCm39)	L387I	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clec9a	G	A	6: 129,387,249 (GRCm39)	V35I	probably benign	Het
Cntn5	T	A	9: 9,984,082 (GRCm39)	Q382L	possibly damaging	Het
Cracdl	T	C	1: 37,663,364 (GRCm39)	K845E	possibly damaging	Het
Dock2	A	T	11: 34,598,169 (GRCm39)	I334N	probably damaging	Het
Dock9	G	T	14: 121,862,617 (GRCm39)	T833K	probably benign	Het
Drd2	G	A	9: 49,313,442 (GRCm39)	V204I	probably benign	Het
Fam120a	A	T	13: 49,039,342 (GRCm39)	I938N	possibly damaging	Het
Fndc1	T	C	17: 7,990,621 (GRCm39)	E1025G	unknown	Het
Fsip2	G	A	2: 82,774,504 (GRCm39)	D64N	probably benign	Het
Gm14496	T	A	2: 181,641,989 (GRCm39)	C553*	probably null	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Hmcn1	C	G	1: 150,695,251 (GRCm39)	A218P	possibly damaging	Het
Hpgds	A	G	6: 65,115,217 (GRCm39)	F22S	probably damaging	Het
Il5ra	T	A	6: 106,708,874 (GRCm39)	N289Y	probably damaging	Het
Irf2	A	T	8: 47,260,388 (GRCm39)	R107*	probably null	Het
Kcnk6	T	C	7: 28,925,075 (GRCm39)	I180M	probably benign	Het
Krtap5-3	G	A	7: 141,755,979 (GRCm39)		probably benign	Het
Lrig1	C	T	6: 94,631,859 (GRCm39)	A114T	probably benign	Het
Lrrc37a	A	G	11: 103,389,587 (GRCm39)	V1946A	probably benign	Het
Lrrc8b	T	C	5: 105,629,217 (GRCm39)	V521A	probably benign	Het
Macf1	T	G	4: 123,348,835 (GRCm39)	I2154L	possibly damaging	Het
Macf1	C	A	4: 123,368,505 (GRCm39)	E2085D	probably benign	Het
Maml1	C	T	11: 50,157,468 (GRCm39)	A236T	probably benign	Het
Mdc1	C	A	17: 36,165,117 (GRCm39)	T1481K	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Mfap3l	T	C	8: 61,124,424 (GRCm39)	V222A	possibly damaging	Het
Mis18bp1	A	G	12: 65,196,102 (GRCm39)	I554T	probably benign	Het
Mpped2	T	C	2: 106,529,790 (GRCm39)	I13T	probably benign	Het
Mthfd1l	C	A	10: 4,056,528 (GRCm39)	T948K	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mtx3	A	G	13: 92,984,191 (GRCm39)	E156G	probably benign	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myh2	G	A	11: 67,071,676 (GRCm39)	V498M	probably damaging	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Myo1b	T	A	1: 51,799,562 (GRCm39)		probably null	Het
Ndufa2	T	A	18: 36,877,573 (GRCm39)		probably benign	Het
Nipal2	T	C	15: 34,625,167 (GRCm39)	I129M	possibly damaging	Het
Nt5dc3	A	G	10: 86,669,926 (GRCm39)	N507S	possibly damaging	Het
Or4b12	A	G	2: 90,095,913 (GRCm39)	L287P	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pcdhb17	G	A	18: 37,620,438 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,508,677 (GRCm39)	M1T	probably null	Het
Pla2g2d	T	C	4: 138,503,126 (GRCm39)	M1T	probably null	Het
Plekhg6	T	C	6: 125,340,306 (GRCm39)	T685A	probably damaging	Het
Pramel19	T	A	4: 101,798,335 (GRCm39)	V102E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pxk	T	C	14: 8,151,540 (GRCm38)	S452P	probably damaging	Het
Rab42	A	T	4: 132,030,529 (GRCm39)	D40E	probably benign	Het
Rapgef6	A	C	11: 54,551,654 (GRCm39)	T836P	probably damaging	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Sntb1	T	A	15: 55,612,745 (GRCm39)	R278*	probably null	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Stk40	T	A	4: 126,019,538 (GRCm39)	L90Q	probably damaging	Het
Syk	A	G	13: 52,794,826 (GRCm39)	Y520C	probably damaging	Het
Syngr2	G	A	11: 117,704,224 (GRCm39)	V170M	possibly damaging	Het
Tcf12	A	T	9: 71,765,816 (GRCm39)	D541E	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tlr4	T	C	4: 66,759,409 (GRCm39)	V734A	probably damaging	Het
Tmem132a	T	C	19: 10,840,863 (GRCm39)	E389G	probably damaging	Het
Tmem150b	A	G	7: 4,712,044 (GRCm39)	I112T	probably benign	Het
Tril	A	G	6: 53,796,577 (GRCm39)	L215P	probably damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Ttn	G	A	2: 76,623,151 (GRCm39)	P15429S	probably damaging	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Tubgcp2	A	G	7: 139,579,183 (GRCm39)	V701A	probably damaging	Het
Tubgcp2	A	G	7: 139,586,069 (GRCm39)	F407L	probably damaging	Het
Vmn1r30	A	C	6: 58,412,475 (GRCm39)	L119R	possibly damaging	Het
Washc5	A	C	15: 59,231,174 (GRCm39)	L363R	probably damaging	Het
Zan	T	C	5: 137,387,590 (GRCm39)	T4874A	unknown	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	Het
Zfp512b	C	A	2: 181,230,235 (GRCm39)	R497L	probably damaging	Het
Zmat4	A	G	8: 24,505,177 (GRCm39)	N139S	probably damaging	Het
Zng1	A	T	19: 24,932,769 (GRCm39)	V88D	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
R0001:Ciita	UTSW	16	10,332,297 (GRCm39)	splice site	probably benign
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
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'- AGGTTGTCAGTGACTGCAG -3'
(R):5'- GGCACCTCAAAGATGGCATC -3'

Sequencing Primer
(F):5'- TGTCAGTGACTGCAGGCGAC -3'
(R):5'- TGGAAGATCCCAGCCAGCAG -3'

Posted On

2014-06-30