Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00158:Nlrc5'

306562

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00158

Quality Score

Status

Chromosome

Chromosomal Location

95160984-95253900 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 95228839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053085] [ENSMUST00000182409] [ENSMUST00000211816]

AlphaFold

C3VPR6

Predicted Effect

probably benign
Transcript: ENSMUST00000053085

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151

Domain	Start	End	E-Value	Type
low complexity region	136	151	N/A	INTRINSIC
Pfam:NACHT	223	386	1.8e-32	PFAM
LRR	716	743	6.89e1	SMART
LRR	744	771	9.86e1	SMART
LRR	772	796	1.22e2	SMART
LRR	844	870	2.16e2	SMART
LRR	871	898	1.76e-1	SMART
LRR	1006	1033	1.9e0	SMART
LRR	1034	1061	4.51e1	SMART
low complexity region	1141	1169	N/A	INTRINSIC
LRR	1240	1267	2.67e1	SMART
LRR	1273	1295	1.22e1	SMART
low complexity region	1341	1351	N/A	INTRINSIC
LRR	1519	1546	5.48e1	SMART
LRR	1547	1574	3.36e1	SMART
LRR	1575	1602	1.69e1	SMART
LRR	1603	1630	8.99e-1	SMART
LRR	1631	1654	5.26e0	SMART
LRR	1659	1686	2.81e0	SMART
LRR	1687	1714	1.6e-4	SMART
LRR	1715	1742	1.06e0	SMART
LRR	1743	1768	8e0	SMART
LRR	1793	1820	2.06e1	SMART
LRR	1821	1848	5.42e-2	SMART
LRR	1849	1876	3.54e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184542

Predicted Effect

probably benign
Transcript: ENSMUST00000211816

Coding Region Coverage

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. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cytokine production induced by virus and bacteria infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,647,869 (GRCm39)	D300V	possibly damaging	Het
Agap1	A	G	1: 89,591,518 (GRCm39)		probably benign	Het
Best3	A	G	10: 116,840,446 (GRCm39)		probably benign	Het
Cfap43	T	G	19: 47,818,914 (GRCm39)	I125L	probably benign	Het
Cntn1	A	G	15: 92,148,758 (GRCm39)	E335G	possibly damaging	Het
Csmd3	A	T	15: 48,150,891 (GRCm39)	S396T	possibly damaging	Het
Cxxc5	T	G	18: 35,993,745 (GRCm39)	*318G	probably null	Het
Dpep3	T	C	8: 106,705,779 (GRCm39)	T49A	probably benign	Het
Elf1	T	A	14: 79,817,789 (GRCm39)	M436K	possibly damaging	Het
Ephx2	T	G	14: 66,330,286 (GRCm39)	I310L	probably benign	Het
Fancm	A	G	12: 65,122,510 (GRCm39)	T11A	possibly damaging	Het
Ganab	G	T	19: 8,879,959 (GRCm39)	A73S	probably benign	Het
Glp1r	T	G	17: 31,120,891 (GRCm39)	L14R	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Krtap9-1	C	T	11: 99,764,680 (GRCm39)	P139S	unknown	Het
L2hgdh	T	C	12: 69,748,208 (GRCm39)	D306G	possibly damaging	Het
Liat1	T	C	11: 75,894,192 (GRCm39)	S190P	probably benign	Het
Lrriq4	A	G	3: 30,705,104 (GRCm39)		probably null	Het
Mbd3	T	G	10: 80,229,717 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mug1	T	C	6: 121,842,768 (GRCm39)	S585P	probably damaging	Het
Nat8f4	C	A	6: 85,877,969 (GRCm39)	A185S	probably benign	Het
Or8b12	T	A	9: 37,657,685 (GRCm39)	I85N	possibly damaging	Het
Or8g23	T	A	9: 38,971,159 (GRCm39)	M268L	probably benign	Het
Peg3	T	A	7: 6,713,273 (GRCm39)	I650F	probably benign	Het
Prom1	A	T	5: 44,213,279 (GRCm39)	N142K	probably damaging	Het
Qser1	T	A	2: 104,596,401 (GRCm39)	D1537V	probably damaging	Het
Rbm44	T	A	1: 91,084,831 (GRCm39)	D684E	probably benign	Het
Rnf19a	A	C	15: 36,265,948 (GRCm39)	S50A	probably damaging	Het
Rnf31	A	G	14: 55,829,776 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,349,614 (GRCm39)	M1V	probably null	Het
Rspry1	A	T	8: 95,349,608 (GRCm39)		probably benign	Het
Sap130	C	A	18: 31,831,819 (GRCm39)	P769T	probably benign	Het
Slc22a16	T	A	10: 40,471,278 (GRCm39)	M483K	probably damaging	Het
Slc27a1	T	C	8: 72,037,416 (GRCm39)		probably null	Het
Slc35a5	A	T	16: 44,972,971 (GRCm39)	C65*	probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Ubqlnl	T	C	7: 103,798,372 (GRCm39)	E375G	probably benign	Het
Uggt2	G	A	14: 119,286,688 (GRCm39)	T692I	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,272 (GRCm39)	C132S	probably benign	Het
Vmn2r61	A	T	7: 41,950,175 (GRCm39)	N865I	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Xrn2	T	A	2: 146,878,670 (GRCm39)	S455R	probably benign	Het
Zan	T	A	5: 137,452,519 (GRCm39)	T1521S	unknown	Het
Zfp326	A	G	5: 106,054,911 (GRCm39)	M361V	possibly damaging	Het
Zfp472	A	G	17: 33,196,498 (GRCm39)	Y191C	possibly damaging	Het

Other mutations in Nlrc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Nlrc5	APN	8	95,211,251 (GRCm39)	critical splice donor site	probably null
IGL00324:Nlrc5	APN	8	95,248,107 (GRCm39)	missense	probably damaging	1.00
IGL02715:Nlrc5	APN	8	95,201,296 (GRCm39)	missense	probably damaging	1.00
IGL02992:Nlrc5	APN	8	95,233,201 (GRCm39)	missense	possibly damaging	0.69
IGL03095:Nlrc5	APN	8	95,248,536 (GRCm39)	splice site	probably benign
IGL03389:Nlrc5	APN	8	95,248,102 (GRCm39)	missense	probably damaging	1.00
IGL03406:Nlrc5	APN	8	95,203,483 (GRCm39)	missense	probably benign	0.01
cassis	UTSW	8	95,203,021 (GRCm39)	nonsense	probably null
cowberry	UTSW	8	95,218,153 (GRCm39)	missense	possibly damaging	0.83
lingon	UTSW	8	95,208,488 (GRCm39)	missense	probably damaging	1.00
R0037:Nlrc5	UTSW	8	95,216,163 (GRCm39)	missense	probably benign	0.00
R0048:Nlrc5	UTSW	8	95,201,284 (GRCm39)	missense	possibly damaging	0.81
R0092:Nlrc5	UTSW	8	95,216,222 (GRCm39)	splice site	probably benign
R0506:Nlrc5	UTSW	8	95,219,753 (GRCm39)	splice site	probably benign
R0548:Nlrc5	UTSW	8	95,248,411 (GRCm39)	missense	probably null	0.09
R2014:Nlrc5	UTSW	8	95,252,138 (GRCm39)	splice site	probably benign
R3051:Nlrc5	UTSW	8	95,203,343 (GRCm39)	missense	probably benign	0.01
R3776:Nlrc5	UTSW	8	95,199,467 (GRCm39)	missense	possibly damaging	0.48
R3837:Nlrc5	UTSW	8	95,237,929 (GRCm39)	splice site	probably benign
R4012:Nlrc5	UTSW	8	95,202,620 (GRCm39)	missense	possibly damaging	0.92
R4367:Nlrc5	UTSW	8	95,203,192 (GRCm39)	missense	probably damaging	1.00
R4400:Nlrc5	UTSW	8	95,220,981 (GRCm39)	missense	probably benign	0.08
R4469:Nlrc5	UTSW	8	95,247,467 (GRCm39)	missense	probably damaging	1.00
R4561:Nlrc5	UTSW	8	95,203,774 (GRCm39)	missense	probably damaging	1.00
R4584:Nlrc5	UTSW	8	95,203,903 (GRCm39)	missense	probably damaging	0.96
R4758:Nlrc5	UTSW	8	95,238,956 (GRCm39)	missense	possibly damaging	0.70
R4834:Nlrc5	UTSW	8	95,232,113 (GRCm39)	missense	probably benign	0.00
R4896:Nlrc5	UTSW	8	95,247,844 (GRCm39)	unclassified	probably benign
R5004:Nlrc5	UTSW	8	95,247,844 (GRCm39)	unclassified	probably benign
R5018:Nlrc5	UTSW	8	95,252,080 (GRCm39)	missense	probably damaging	1.00
R5115:Nlrc5	UTSW	8	95,203,447 (GRCm39)	missense	possibly damaging	0.67
R5116:Nlrc5	UTSW	8	95,208,488 (GRCm39)	missense	probably damaging	1.00
R5126:Nlrc5	UTSW	8	95,201,299 (GRCm39)	missense	possibly damaging	0.95
R5148:Nlrc5	UTSW	8	95,203,321 (GRCm39)	missense	probably damaging	1.00
R5224:Nlrc5	UTSW	8	95,220,944 (GRCm39)	missense	probably benign	0.26
R5527:Nlrc5	UTSW	8	95,217,044 (GRCm39)	missense	probably damaging	1.00
R5640:Nlrc5	UTSW	8	95,202,421 (GRCm39)	missense	probably benign	0.02
R5705:Nlrc5	UTSW	8	95,202,385 (GRCm39)	missense	probably benign	0.00
R5778:Nlrc5	UTSW	8	95,206,154 (GRCm39)	missense	possibly damaging	0.66
R5830:Nlrc5	UTSW	8	95,199,542 (GRCm39)	missense	probably damaging	1.00
R5850:Nlrc5	UTSW	8	95,247,675 (GRCm39)	missense	probably benign	0.00
R5978:Nlrc5	UTSW	8	95,215,221 (GRCm39)	missense	probably damaging	0.98
R6335:Nlrc5	UTSW	8	95,228,902 (GRCm39)	missense	probably benign	0.01
R6372:Nlrc5	UTSW	8	95,206,378 (GRCm39)	missense	probably damaging	0.98
R6486:Nlrc5	UTSW	8	95,247,927 (GRCm39)	splice site	probably null
R6765:Nlrc5	UTSW	8	95,216,996 (GRCm39)	missense	probably benign	0.20
R6861:Nlrc5	UTSW	8	95,247,857 (GRCm39)	unclassified	probably benign
R6869:Nlrc5	UTSW	8	95,248,583 (GRCm39)	missense	probably benign	0.00
R7134:Nlrc5	UTSW	8	95,206,350 (GRCm39)	missense	probably damaging	0.99
R7204:Nlrc5	UTSW	8	95,218,153 (GRCm39)	missense	possibly damaging	0.83
R7231:Nlrc5	UTSW	8	95,248,433 (GRCm39)	critical splice donor site	probably null
R7309:Nlrc5	UTSW	8	95,200,670 (GRCm39)	missense	probably benign	0.01
R7368:Nlrc5	UTSW	8	95,203,021 (GRCm39)	nonsense	probably null
R7497:Nlrc5	UTSW	8	95,248,598 (GRCm39)	missense	probably damaging	1.00
R7606:Nlrc5	UTSW	8	95,203,745 (GRCm39)	missense	possibly damaging	0.67
R7611:Nlrc5	UTSW	8	95,239,276 (GRCm39)	critical splice donor site	probably null
R7685:Nlrc5	UTSW	8	95,248,028 (GRCm39)	splice site	probably null
R7810:Nlrc5	UTSW	8	95,231,772 (GRCm39)	missense	possibly damaging	0.85
R7829:Nlrc5	UTSW	8	95,248,397 (GRCm39)	missense	probably damaging	1.00
R7910:Nlrc5	UTSW	8	95,219,720 (GRCm39)	missense	probably benign	0.00
R7921:Nlrc5	UTSW	8	95,214,292 (GRCm39)	missense	probably damaging	1.00
R8131:Nlrc5	UTSW	8	95,208,420 (GRCm39)	missense	probably damaging	1.00
R8237:Nlrc5	UTSW	8	95,252,753 (GRCm39)	missense	unknown
R8493:Nlrc5	UTSW	8	95,249,848 (GRCm39)	missense	probably damaging	1.00
R8888:Nlrc5	UTSW	8	95,252,118 (GRCm39)	missense	probably benign	0.04
R8964:Nlrc5	UTSW	8	95,232,116 (GRCm39)	missense	possibly damaging	0.54
R9053:Nlrc5	UTSW	8	95,217,013 (GRCm39)	missense	probably benign	0.00
R9058:Nlrc5	UTSW	8	95,238,938 (GRCm39)	missense	possibly damaging	0.86
R9161:Nlrc5	UTSW	8	95,213,274 (GRCm39)	missense	probably damaging	0.97
R9278:Nlrc5	UTSW	8	95,237,908 (GRCm39)	missense	probably benign	0.00
R9285:Nlrc5	UTSW	8	95,199,604 (GRCm39)	missense	probably damaging	1.00
R9405:Nlrc5	UTSW	8	95,199,652 (GRCm39)	missense	probably damaging	0.98
R9591:Nlrc5	UTSW	8	95,249,309 (GRCm39)	missense	probably damaging	1.00
R9620:Nlrc5	UTSW	8	95,203,034 (GRCm39)	missense	probably benign	0.44
RF021:Nlrc5	UTSW	8	95,203,516 (GRCm39)	missense	probably benign	0.16
Z1088:Nlrc5	UTSW	8	95,231,092 (GRCm39)	missense	possibly damaging	0.48
Z1177:Nlrc5	UTSW	8	95,233,208 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16