Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Ciita'

227271

Institutional Source

Beutler Lab

Gene Symbol

Ciita

Ensembl Gene

ENSMUSG00000022504

Gene Name

class II transactivator

Synonyms

C2ta, Gm9475

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10297923-10346282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10336217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 958 (T958I)

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: T958I

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: T958I

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
AA Change: T955I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000230395
AA Change: T1035I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000230450
AA Change: T934I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 64,056,080 (GRCm39)	R272P	possibly damaging	Het
Ablim3	A	T	18: 61,990,159 (GRCm39)	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Adamts13	C	A	2: 26,895,437 (GRCm39)	T1176N	probably benign	Het
Adgre5	T	C	8: 84,454,433 (GRCm39)	T357A	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,017,517 (GRCm39)	V310A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,151,522 (GRCm39)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,007,242 (GRCm39)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chrdl1	T	C	X: 142,086,414 (GRCm39)	I231V	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,828,370 (GRCm39)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,969,765 (GRCm39)	R524C	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,408,309 (GRCm39)	M453V	probably benign	Het
Ednrb	G	T	14: 104,054,535 (GRCm39)	N432K	probably benign	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,779,241 (GRCm39)	K306R	probably benign	Het
Fmo4	A	G	1: 162,637,456 (GRCm39)	V12A	probably benign	Het
Fpgt	T	C	3: 154,793,511 (GRCm39)	Y172C	probably damaging	Het
Fsip2	T	A	2: 82,839,159 (GRCm39)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm39)	R205*	probably null	Het
Grik5	A	T	7: 24,714,738 (GRCm39)	M752K	possibly damaging	Het
Herc2	A	G	7: 55,876,712 (GRCm39)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,469,744 (GRCm39)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,346,831 (GRCm39)	T609A	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Lgi2	A	G	5: 52,695,847 (GRCm39)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,944,925 (GRCm39)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,328,005 (GRCm39)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,330,848 (GRCm39)	L3V	unknown	Het
Or12j2	T	C	7: 139,916,566 (GRCm39)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,808,557 (GRCm39)	T145K	probably benign	Het
Or5b102	A	T	19: 13,041,044 (GRCm39)	M90L	probably benign	Het
Otogl	C	T	10: 107,616,904 (GRCm39)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,566,798 (GRCm39)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 126,488,481 (GRCm39)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,042,654 (GRCm39)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,386,520 (GRCm39)		probably null	Het
Prune1	C	T	3: 95,162,719 (GRCm39)	R318Q	probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Psg27	A	G	7: 18,298,934 (GRCm39)	L129P	probably benign	Het
Psmc6	A	G	14: 45,567,323 (GRCm39)	K7E	possibly damaging	Het
Reln	A	T	5: 22,124,175 (GRCm39)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm39)		probably null	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smg1	T	C	7: 117,762,389 (GRCm39)		probably benign	Het
Smurf2	T	A	11: 106,732,595 (GRCm39)	Q335L	probably benign	Het
Sspo	A	T	6: 48,450,451 (GRCm39)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,419,833 (GRCm39)	I276T	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar9	A	T	10: 23,984,877 (GRCm39)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,767,166 (GRCm39)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,286,432 (GRCm39)	T1091A	probably benign	Het
Ttn	G	T	2: 76,768,120 (GRCm39)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,686,878 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,840,638 (GRCm39)	E671G	probably benign	Het
Upf3a	A	G	8: 13,835,850 (GRCm39)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,182,493 (GRCm39)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,813,279 (GRCm39)	R549*	probably null	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp747	T	A	7: 126,973,142 (GRCm39)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,275,137 (GRCm39)	Q161L	unknown	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
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'- AGCAGACAGTCTAGTCCATGG -3'
(R):5'- CAGAGAATGGATTTTCAGTGGC -3'

Sequencing Primer
(F):5'- CAGACAGTCTAGTCCATGGTGTGTG -3'
(R):5'- CTGAATGGGAGAGTGCATGATC -3'

Posted On

2014-09-17