Mutagenetix > Incidental Mutation

Incidental Mutation 'R7219:Ciita'

561691

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

045291-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10297923-10346282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10330121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 802 (T802A)

Ref Sequence

ENSEMBL: ENSMUSP00000023147 (fasta)

Gene Model

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

AlphaFold

P79621

Predicted Effect

probably benign
Transcript: ENSMUST00000023147
AA Change: T802A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: T802A

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

probably benign
Transcript: ENSMUST00000230146
AA Change: T799A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000230395
AA Change: T879A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230450
AA Change: T778A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,508 (GRCm39)	S300P	unknown	Het
Abhd17a	T	A	10: 80,420,008 (GRCm39)	K226*	probably null	Het
Alkbh7	T	A	17: 57,305,508 (GRCm39)	H108Q	probably damaging	Het
Ankrd44	A	C	1: 54,806,069 (GRCm39)	H112Q	probably damaging	Het
Capn3	A	G	2: 120,333,935 (GRCm39)	E790G	probably damaging	Het
Cd47	C	A	16: 49,728,440 (GRCm39)	N330K	possibly damaging	Het
Cd55	A	G	1: 130,390,343 (GRCm39)	S22P	possibly damaging	Het
Cdc25a	A	G	9: 109,718,154 (GRCm39)	I373V	probably damaging	Het
Cfap43	T	C	19: 47,779,912 (GRCm39)	I514V	probably benign	Het
Cfap73	A	T	5: 120,768,200 (GRCm39)	M186K	probably benign	Het
Chd9	A	G	8: 91,728,394 (GRCm39)	D1270G	unknown	Het
Dlgap2	A	G	8: 14,793,296 (GRCm39)	E430G	probably benign	Het
Dlx1	C	A	2: 71,360,513 (GRCm39)	S59*	probably null	Het
Dnaaf3	T	C	7: 4,531,076 (GRCm39)	N119S	probably damaging	Het
Dnah11	T	G	12: 118,004,830 (GRCm39)	I2164L	possibly damaging	Het
Dnah11	T	C	12: 118,090,624 (GRCm39)	K1079R	probably benign	Het
Dnah12	C	T	14: 26,576,837 (GRCm39)	T3029I	probably damaging	Het
Dppa3	A	T	6: 122,606,918 (GRCm39)	Y136F	probably damaging	Het
Enox1	T	A	14: 77,958,284 (GRCm39)	M611K	probably benign	Het
Fam149a	A	T	8: 45,803,600 (GRCm39)	I378N	possibly damaging	Het
Farp2	T	C	1: 93,488,040 (GRCm39)	F89S	probably damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Frs3	A	G	17: 48,013,620 (GRCm39)	T181A	probably damaging	Het
Heatr4	T	A	12: 84,004,644 (GRCm39)	I726F	possibly damaging	Het
Ighg1	T	G	12: 113,290,216 (GRCm39)	E375A		Het
Ikzf4	G	T	10: 128,470,252 (GRCm39)	Q476K	possibly damaging	Het
Kcnh1	G	T	1: 192,187,945 (GRCm39)	C829F	probably benign	Het
Krtap19-4	T	C	16: 88,681,797 (GRCm39)	Y53C	unknown	Het
Loricrin	C	A	3: 91,988,705 (GRCm39)	G194C	unknown	Het
Lrp1	A	C	10: 127,393,097 (GRCm39)	D2720E	probably benign	Het
Lrp4	A	G	2: 91,322,368 (GRCm39)	Y1068C	probably damaging	Het
Mbnl1	A	G	3: 60,511,244 (GRCm39)	N67D	probably benign	Het
Mrpl21	A	G	19: 3,336,998 (GRCm39)	E123G	probably benign	Het
Mst1	A	T	9: 107,958,485 (GRCm39)	D65V	probably damaging	Het
Myo15b	T	A	11: 115,767,921 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,028,052 (GRCm39)	Y79C	probably damaging	Het
Oas1c	A	T	5: 120,940,957 (GRCm39)	W279R	probably damaging	Het
Or4f4-ps1	A	T	2: 111,330,532 (GRCm39)	M312L	probably benign	Het
Or4k77	A	T	2: 111,199,882 (GRCm39)	I302L	probably benign	Het
Or51f5	A	G	7: 102,430,913 (GRCm39)	I77V	probably benign	Het
Pcdh9	C	T	14: 93,253,216 (GRCm39)	G1149D	possibly damaging	Het
Pcid2	G	A	8: 13,129,907 (GRCm39)	T283I	probably benign	Het
Pdhx	A	G	2: 102,858,760 (GRCm39)	V348A	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmb3	T	A	11: 97,602,023 (GRCm39)	M131K	probably null	Het
Raph1	A	G	1: 60,542,032 (GRCm39)	Y309H	unknown	Het
Rasgrf1	A	G	9: 89,866,341 (GRCm39)	N593S	probably damaging	Het
Rbm38	A	C	2: 172,863,990 (GRCm39)	E53A	possibly damaging	Het
Rufy3	A	G	5: 88,797,715 (GRCm39)	T631A	probably benign	Het
Sbno1	A	T	5: 124,543,722 (GRCm39)	D272E	probably benign	Het
Scamp1	T	A	13: 94,361,415 (GRCm39)	Y207F	probably damaging	Het
Scn8a	T	A	15: 100,866,984 (GRCm39)	S263R	probably damaging	Het
Setbp1	T	G	18: 78,798,960 (GRCm39)	T1407P	probably damaging	Het
Skor2	T	C	18: 76,948,096 (GRCm39)	L606P	possibly damaging	Het
Slc35f6	A	G	5: 30,814,796 (GRCm39)	N241S	probably benign	Het
Slc36a2	T	G	11: 55,059,744 (GRCm39)	D247A	probably benign	Het
Smim10l1	T	A	6: 133,084,895 (GRCm39)	F87L	unknown	Het
Son	T	C	16: 91,461,889 (GRCm39)	S2265P	unknown	Het
Spta1	A	G	1: 174,050,203 (GRCm39)	N1748D	probably damaging	Het
Sptbn2	A	G	19: 4,774,201 (GRCm39)	D84G	probably damaging	Het
Tasor2	T	A	13: 3,640,521 (GRCm39)	L205F	probably damaging	Het
Tbc1d24	G	A	17: 24,404,266 (GRCm39)	R293C	probably damaging	Het
Tex15	A	G	8: 34,036,268 (GRCm39)	T65A	probably benign	Het
Thyn1	A	G	9: 26,916,506 (GRCm39)	Y97C	probably damaging	Het
Tmem64	T	C	4: 15,266,700 (GRCm39)	L250P	probably damaging	Het
Tnfrsf9	A	T	4: 151,019,991 (GRCm39)	K217N	probably damaging	Het
Tnxb	A	G	17: 34,898,039 (GRCm39)	T896A	probably benign	Het
Trpm1	T	A	7: 63,854,333 (GRCm39)	I285N	possibly damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
U2surp	G	A	9: 95,372,215 (GRCm39)	R316*	probably null	Het
Ubr2	G	T	17: 47,246,360 (GRCm39)	S1618*	probably null	Het
Ugp2	T	C	11: 21,273,271 (GRCm39)	I449M	probably damaging	Het
Umodl1	A	G	17: 31,201,236 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,105 (GRCm39)	V538I	probably benign	Het
Vmn2r31	A	T	7: 7,397,397 (GRCm39)	M287K	probably damaging	Het
Wwc2	A	G	8: 48,311,919 (GRCm39)	V748A	unknown	Het
Zfp800	A	C	6: 28,243,662 (GRCm39)	H434Q	probably benign	Het
Zfp869	A	G	8: 70,159,356 (GRCm39)	C406R	probably damaging	Het
Zhx1	A	G	15: 57,917,733 (GRCm39)	V171A	probably benign	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
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
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'- TTACCAGGTACCTGAAGCGC -3'
(R):5'- GGCAATGGTTACCTTTCTCTGG -3'

Sequencing Primer
(F):5'- TACCTGAAGCGCCTGAAGCTG -3'
(R):5'- GCCCTCAGTATTGTCATCTTATAATG -3'

Posted On

2019-06-26