Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Nlrc4'

554586

Institutional Source

Beutler Lab

Gene Symbol

Nlrc4

Ensembl Gene

ENSMUSG00000039193

Gene Name

NLR family, CARD domain containing 4

Synonyms

Card12, Ipaf, 9530011P19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

PIT4305001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74426295-74459108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74446309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 360 (T360A)

Ref Sequence

ENSEMBL: ENSMUSP00000059637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052124]

AlphaFold

Q3UP24

PDB Structure

Crystal structure of NLRC4 reveals its autoinhibition mechanism [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052124
AA Change: T360A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: T360A

Domain	Start	End	E-Value	Type
Pfam:CARD	1	87	1.4e-20	PFAM
Pfam:NACHT	163	314	1.3e-28	PFAM
SCOP:d1yrga_	734	1015	3e-20	SMART

Coding Region Coverage

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null allele show lack of caspase-1 activation in macrophages infected with Legionella and Salmonella, and enhanced permissivity to Legionella replication. Homozygotes for another null allele fail to show caspase dependent cell death andIL-1beta secretion upon Salmonella infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,259,041	N801D	probably benign	Het
Adcy2	T	C	13: 68,678,602	K661R	probably benign	Het
Akap1	A	T	11: 88,844,378	M486K	probably benign	Het
Arhgap40	T	A	2: 158,531,905	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,491,195	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135	H340L	probably benign	Het
Cd5	A	G	19: 10,726,386	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,900,937	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,356,572	I59T	probably damaging	Het
Cutc	G	T	19: 43,768,269	A267S	probably damaging	Het
Dmwd	A	G	7: 19,080,718	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,065,755	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,373,348	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,710,634	I260T	probably benign	Het
Drd5	T	C	5: 38,320,584	F307L	probably damaging	Het
Dsc2	C	T	18: 20,046,243	S256N	probably damaging	Het
Dstyk	G	T	1: 132,455,896	E617*	probably null	Het
Dusp15	G	A	2: 152,945,476	H72Y	probably benign	Het
Dysf	C	T	6: 84,100,234	R660*	probably null	Het
Fbxl13	T	A	5: 21,522,148	I584L	probably benign	Het
Gm10354	T	C	5: 14,978,790	D29G	probably benign	Het
Gsap	T	C	5: 21,186,409	L16P	probably damaging	Het
Hgsnat	C	T	8: 25,945,199	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,181,671	T161A		Het
Hspg2	T	C	4: 137,550,373	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,527,919	P108S	probably benign	Het
Il17ra	A	T	6: 120,481,406	Y506F	probably damaging	Het
Il9r	T	A	11: 32,194,734	Q53L	probably benign	Het
Irf2bp2	C	T	8: 126,592,659	G260R	probably damaging	Het
Jdp2	T	A	12: 85,638,852	I129N	probably damaging	Het
Kif1b	T	C	4: 149,220,792		probably null	Het
Klrd1	A	G	6: 129,596,707	T120A	unknown	Het
Lfng	A	G	5: 140,612,528	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,752,067	E757G	probably damaging	Het
Ltn1	G	A	16: 87,420,323	P342L	probably damaging	Het
Lum	A	C	10: 97,568,876	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,184,027	R292*	probably null	Het
Olfr1231	T	C	2: 89,303,383	I70V	probably benign	Het
Olfr850	T	C	9: 19,478,061	Y63C	probably damaging	Het
Palm2	C	A	4: 57,638,029	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,492,310	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,613,052	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,292,126	N349T	probably benign	Het
Poc1a	A	G	9: 106,349,829	Q420R		Het
Prl7d1	A	T	13: 27,714,337	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,956,300	M398I	probably benign	Het
Rapgef6	T	A	11: 54,679,377	V1192D	probably damaging	Het
Rif1	T	C	2: 52,111,958	V166A		Het
Robo4	T	C	9: 37,411,391	Y847H	probably damaging	Het
Sardh	T	C	2: 27,228,314	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,199	T553A	probably benign	Het
Serpina12	A	G	12: 104,035,717	Y247H	probably damaging	Het
Ston2	G	T	12: 91,648,502	D377E	possibly damaging	Het
Syne1	A	G	10: 5,333,023	S1557P	probably damaging	Het
Syt6	C	T	3: 103,575,453	R26W	possibly damaging	Het
Tep1	C	T	14: 50,829,227	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,679,023	T637A	possibly damaging	Het
Tnn	A	T	1: 160,086,077	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,440,137	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,268,970	V31A	possibly damaging	Het
Trpc7	G	T	13: 56,887,508	T204K	probably benign	Het
Urgcp	T	C	11: 5,717,996	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 12,260,663	I6K	probably benign	Het

Other mutations in Nlrc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Nlrc4	APN	17	74446534	missense	probably benign	0.02
IGL00427:Nlrc4	APN	17	74447092	missense	probably benign
IGL00823:Nlrc4	APN	17	74447990	missense	probably benign	0.01
IGL01404:Nlrc4	APN	17	74445711	missense	probably damaging	1.00
IGL02178:Nlrc4	APN	17	74446843	missense	probably damaging	1.00
IGL02266:Nlrc4	APN	17	74446167	missense	possibly damaging	0.72
IGL03342:Nlrc4	APN	17	74445318	missense	probably damaging	1.00
Inwood	UTSW	17	74445630	missense	probably damaging	1.00
PIT4466001:Nlrc4	UTSW	17	74427119	missense	probably benign	0.01
R0077:Nlrc4	UTSW	17	74446831	missense	probably damaging	1.00
R0398:Nlrc4	UTSW	17	74445920	missense	probably damaging	0.99
R0639:Nlrc4	UTSW	17	74426963	missense	probably benign	0.16
R1498:Nlrc4	UTSW	17	74446413	missense	probably benign	0.43
R1565:Nlrc4	UTSW	17	74441931	missense	probably benign	0.00
R1624:Nlrc4	UTSW	17	74445189	missense	possibly damaging	0.55
R1666:Nlrc4	UTSW	17	74445906	missense	probably damaging	0.97
R1668:Nlrc4	UTSW	17	74445906	missense	probably damaging	0.97
R1690:Nlrc4	UTSW	17	74437523	nonsense	probably null
R1723:Nlrc4	UTSW	17	74441908	missense	probably damaging	1.00
R1988:Nlrc4	UTSW	17	74426943	missense	probably benign	0.09
R1992:Nlrc4	UTSW	17	74445633	missense	probably benign	0.04
R2141:Nlrc4	UTSW	17	74447951	splice site	probably benign
R2256:Nlrc4	UTSW	17	74445630	missense	probably damaging	1.00
R2897:Nlrc4	UTSW	17	74448045	missense	probably benign
R3117:Nlrc4	UTSW	17	74436068	missense	probably benign	0.00
R3861:Nlrc4	UTSW	17	74445621	missense	probably benign	0.00
R4093:Nlrc4	UTSW	17	74445958	missense	probably benign	0.20
R4212:Nlrc4	UTSW	17	74447115	missense	possibly damaging	0.66
R4627:Nlrc4	UTSW	17	74446628	missense	probably damaging	1.00
R4859:Nlrc4	UTSW	17	74436037	missense	probably damaging	0.97
R4968:Nlrc4	UTSW	17	74446941	missense	probably benign	0.20
R5133:Nlrc4	UTSW	17	74446717	missense	possibly damaging	0.91
R5379:Nlrc4	UTSW	17	74448083	nonsense	probably null
R6045:Nlrc4	UTSW	17	74446959	missense	probably damaging	0.98
R6654:Nlrc4	UTSW	17	74445528	missense	possibly damaging	0.55
R6712:Nlrc4	UTSW	17	74446836	missense	probably damaging	0.96
R6976:Nlrc4	UTSW	17	74445939	missense	probably damaging	1.00
R7030:Nlrc4	UTSW	17	74446006	missense	probably damaging	1.00
R7153:Nlrc4	UTSW	17	74447103	missense	possibly damaging	0.84
R7190:Nlrc4	UTSW	17	74445203	missense	probably damaging	1.00
R7398:Nlrc4	UTSW	17	74446542	missense	probably damaging	1.00
R7417:Nlrc4	UTSW	17	74446488	missense	probably benign	0.18
R7468:Nlrc4	UTSW	17	74445512	missense	probably benign	0.00
R7639:Nlrc4	UTSW	17	74447957	critical splice donor site	probably null
R7716:Nlrc4	UTSW	17	74446656	missense	probably damaging	1.00
R7757:Nlrc4	UTSW	17	74448196	missense	probably benign	0.00
R7868:Nlrc4	UTSW	17	74448052	missense	possibly damaging	0.75
R7890:Nlrc4	UTSW	17	74437508	missense	probably benign	0.00
R7920:Nlrc4	UTSW	17	74427119	missense	probably benign	0.01
R7950:Nlrc4	UTSW	17	74445615	missense	probably damaging	1.00
R8154:Nlrc4	UTSW	17	74445909	missense	probably damaging	1.00
R8168:Nlrc4	UTSW	17	74445211	missense	probably benign	0.01
R8311:Nlrc4	UTSW	17	74446545	missense	probably damaging	1.00
R8716:Nlrc4	UTSW	17	74445990	missense	probably damaging	1.00
R9502:Nlrc4	UTSW	17	74445585	missense	probably benign	0.37
R9514:Nlrc4	UTSW	17	74446741	missense	probably benign	0.03
X0026:Nlrc4	UTSW	17	74446643	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTTCATGCTGGACCCATG -3'
(R):5'- AGGCATATCAGACATGTTGGC -3'

Sequencing Primer
(F):5'- CCATGCTCGGGTTCAAAATC -3'
(R):5'- TATCAGACATGTTGGCGCCCTG -3'

Posted On

2019-06-07