Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02935:Nlrp9c'

364262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02935

Quality Score

Status

Chromosome

Chromosomal Location

26064116-26103125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26084701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 293 (S293P)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041845] [ENSMUST00000085944]

AlphaFold

Q66X01

Predicted Effect

probably benign
Transcript: ENSMUST00000041845
AA Change: S293P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: S293P

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	5.2e-31	PFAM
LRR	637	664	4.36e1	SMART
Blast:LRR	666	691	3e-6	BLAST
LRR	693	720	1.02e0	SMART
LRR	722	749	3e0	SMART
LRR	750	777	6.88e-4	SMART
LRR	779	806	5.06e0	SMART
LRR	807	834	1.22e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085944
AA Change: S293P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: S293P

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	2.8e-31	PFAM
LRR	631	658	7.49e0	SMART
LRR	692	719	4.36e1	SMART
Blast:LRR	721	746	8e-6	BLAST
LRR	748	775	1.02e0	SMART
LRR	777	804	3e0	SMART
LRR	805	832	6.88e-4	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.12e-4	SMART
LRR	919	946	1.22e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160948

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	G	A	13: 54,709,675 (GRCm39)	P13L	possibly damaging	Het
A930016O22Rik	A	T	7: 19,154,338 (GRCm39)		probably benign	Het
Ajuba	A	G	14: 54,807,924 (GRCm39)	F436S	probably damaging	Het
Bptf	C	A	11: 106,971,625 (GRCm39)	A961S	probably damaging	Het
Brca1	A	G	11: 101,380,693 (GRCm39)	V1780A	probably benign	Het
Bub1	A	G	2: 127,643,215 (GRCm39)	L1043S	probably damaging	Het
Cngb3	T	A	4: 19,425,491 (GRCm39)	M433K	possibly damaging	Het
Col4a1	T	C	8: 11,269,166 (GRCm39)	D928G	probably damaging	Het
Colq	G	A	14: 31,257,591 (GRCm39)	P259S	probably damaging	Het
Csmd1	T	C	8: 16,273,348 (GRCm39)	Y828C	probably damaging	Het
Dennd5a	T	C	7: 109,520,514 (GRCm39)	R448G	possibly damaging	Het
Dip2c	A	G	13: 9,712,182 (GRCm39)	D1435G	probably damaging	Het
Dst	T	A	1: 34,225,926 (GRCm39)	L1188*	probably null	Het
Duox1	G	T	2: 122,155,000 (GRCm39)	G462C	possibly damaging	Het
Flcn	A	T	11: 59,686,062 (GRCm39)	I402N	possibly damaging	Het
Fuca2	G	A	10: 13,383,063 (GRCm39)	E344K	probably null	Het
Golim4	T	C	3: 75,802,299 (GRCm39)	H331R	possibly damaging	Het
Grid1	A	T	14: 34,544,515 (GRCm39)	I29F	possibly damaging	Het
Hltf	T	A	3: 20,123,215 (GRCm39)	F201Y	probably damaging	Het
Ipo8	A	T	6: 148,691,339 (GRCm39)	I677N	probably benign	Het
Meioc	A	G	11: 102,563,017 (GRCm39)	T72A	probably benign	Het
Meox2	A	T	12: 37,159,104 (GRCm39)	H92L	probably damaging	Het
Mlec	C	A	5: 115,295,873 (GRCm39)	R74L	probably benign	Het
Mrpl58	G	A	11: 115,301,054 (GRCm39)		probably benign	Het
Mtch1	T	C	17: 29,555,184 (GRCm39)	D288G	probably benign	Het
Myo16	A	G	8: 10,582,990 (GRCm39)	E1090G	probably benign	Het
Nicn1	A	G	9: 108,167,845 (GRCm39)	N39S	probably benign	Het
Or2bd2	G	A	7: 6,443,753 (GRCm39)	V285M	possibly damaging	Het
Or51b4	T	C	7: 103,530,871 (GRCm39)	N193S	probably damaging	Het
Or5al1	G	T	2: 85,990,714 (GRCm39)		probably benign	Het
Pcdh20	T	A	14: 88,704,438 (GRCm39)		probably benign	Het
Peg3	C	A	7: 6,714,128 (GRCm39)	V365F	probably damaging	Het
Penk	A	G	4: 4,133,843 (GRCm39)	F268S	probably damaging	Het
Pitrm1	T	A	13: 6,603,300 (GRCm39)	Y116N	probably damaging	Het
Prex1	C	A	2: 166,412,265 (GRCm39)	G389C	probably damaging	Het
Ptch2	C	T	4: 116,971,967 (GRCm39)	A1163V	probably damaging	Het
Rasgrp3	G	A	17: 75,804,065 (GRCm39)	V123I	probably benign	Het
Slc36a2	G	T	11: 55,060,854 (GRCm39)	N185K	possibly damaging	Het
Sox9	G	T	11: 112,676,175 (GRCm39)	G455C	probably damaging	Het
St6galnac1	G	T	11: 116,660,171 (GRCm39)	D47E	probably benign	Het
Taar5	A	T	10: 23,847,415 (GRCm39)	D271V	probably damaging	Het
Top3a	A	T	11: 60,653,354 (GRCm39)	I85K	possibly damaging	Het
Ttll8	T	A	15: 88,798,759 (GRCm39)	M659L	probably benign	Het
Ythdc2	C	T	18: 44,988,112 (GRCm39)	R656C	probably damaging	Het

Other mutations in Nlrp9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Nlrp9c	APN	7	26,084,013 (GRCm39)	missense	probably benign	0.00
IGL00814:Nlrp9c	APN	7	26,084,175 (GRCm39)	missense	probably benign	0.23
IGL00919:Nlrp9c	APN	7	26,093,481 (GRCm39)	nonsense	probably null
IGL01762:Nlrp9c	APN	7	26,084,850 (GRCm39)	missense	probably damaging	1.00
IGL01928:Nlrp9c	APN	7	26,074,847 (GRCm39)	splice site	probably benign
IGL02008:Nlrp9c	APN	7	26,084,576 (GRCm39)	missense	probably benign	0.16
IGL02389:Nlrp9c	APN	7	26,093,632 (GRCm39)	missense	probably benign
IGL02535:Nlrp9c	APN	7	26,071,522 (GRCm39)	missense	probably damaging	1.00
IGL02685:Nlrp9c	APN	7	26,084,982 (GRCm39)	missense	probably damaging	0.98
IGL02904:Nlrp9c	APN	7	26,074,715 (GRCm39)	missense	probably damaging	1.00
IGL03006:Nlrp9c	APN	7	26,071,507 (GRCm39)	missense	probably damaging	0.98
IGL03140:Nlrp9c	APN	7	26,079,914 (GRCm39)	missense	probably benign	0.30
IGL03201:Nlrp9c	APN	7	26,084,533 (GRCm39)	missense	probably benign	0.00
IGL03243:Nlrp9c	APN	7	26,064,457 (GRCm39)	missense	probably damaging	0.99
holy_grail	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
IGL03054:Nlrp9c	UTSW	7	26,081,701 (GRCm39)	splice site	probably null
K7894:Nlrp9c	UTSW	7	26,084,323 (GRCm39)	missense	possibly damaging	0.94
R0018:Nlrp9c	UTSW	7	26,071,423 (GRCm39)	missense	possibly damaging	0.89
R0018:Nlrp9c	UTSW	7	26,071,423 (GRCm39)	missense	possibly damaging	0.89
R0238:Nlrp9c	UTSW	7	26,077,437 (GRCm39)	missense	possibly damaging	0.90
R0238:Nlrp9c	UTSW	7	26,077,437 (GRCm39)	missense	possibly damaging	0.90
R0335:Nlrp9c	UTSW	7	26,093,561 (GRCm39)	missense	possibly damaging	0.92
R0391:Nlrp9c	UTSW	7	26,070,901 (GRCm39)	splice site	probably benign
R0433:Nlrp9c	UTSW	7	26,085,244 (GRCm39)	missense	probably benign	0.20
R1035:Nlrp9c	UTSW	7	26,070,702 (GRCm39)	splice site	probably benign
R1118:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1119:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1173:Nlrp9c	UTSW	7	26,079,860 (GRCm39)	missense	probably damaging	1.00
R1519:Nlrp9c	UTSW	7	26,077,526 (GRCm39)	missense	possibly damaging	0.88
R1528:Nlrp9c	UTSW	7	26,081,723 (GRCm39)	missense	probably damaging	0.99
R1616:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1774:Nlrp9c	UTSW	7	26,093,543 (GRCm39)	missense	probably benign	0.05
R1789:Nlrp9c	UTSW	7	26,079,915 (GRCm39)	missense	probably benign	0.00
R1869:Nlrp9c	UTSW	7	26,084,245 (GRCm39)	nonsense	probably null
R1870:Nlrp9c	UTSW	7	26,084,245 (GRCm39)	nonsense	probably null
R1920:Nlrp9c	UTSW	7	26,084,319 (GRCm39)	missense	probably damaging	1.00
R1987:Nlrp9c	UTSW	7	26,077,481 (GRCm39)	missense	probably benign	0.31
R2022:Nlrp9c	UTSW	7	26,084,221 (GRCm39)	missense	probably damaging	1.00
R2309:Nlrp9c	UTSW	7	26,077,512 (GRCm39)	missense	probably damaging	1.00
R2327:Nlrp9c	UTSW	7	26,074,747 (GRCm39)	missense	probably damaging	1.00
R3405:Nlrp9c	UTSW	7	26,084,707 (GRCm39)	missense	probably benign	0.01
R3548:Nlrp9c	UTSW	7	26,070,876 (GRCm39)	missense	probably damaging	1.00
R3846:Nlrp9c	UTSW	7	26,081,701 (GRCm39)	splice site	probably null
R4179:Nlrp9c	UTSW	7	26,084,086 (GRCm39)	missense	possibly damaging	0.74
R4460:Nlrp9c	UTSW	7	26,077,523 (GRCm39)	missense	probably damaging	1.00
R4669:Nlrp9c	UTSW	7	26,074,793 (GRCm39)	missense	possibly damaging	0.90
R4708:Nlrp9c	UTSW	7	26,084,265 (GRCm39)	missense	probably benign	0.07
R4810:Nlrp9c	UTSW	7	26,077,602 (GRCm39)	splice site	probably null
R4824:Nlrp9c	UTSW	7	26,079,989 (GRCm39)	missense	possibly damaging	0.49
R4915:Nlrp9c	UTSW	7	26,083,885 (GRCm39)	missense	probably benign	0.34
R4996:Nlrp9c	UTSW	7	26,085,172 (GRCm39)	missense	possibly damaging	0.92
R5468:Nlrp9c	UTSW	7	26,064,425 (GRCm39)	missense	probably benign	0.00
R5525:Nlrp9c	UTSW	7	26,083,926 (GRCm39)	missense	probably damaging	1.00
R5526:Nlrp9c	UTSW	7	26,081,791 (GRCm39)	missense	possibly damaging	0.95
R6020:Nlrp9c	UTSW	7	26,084,150 (GRCm39)	missense	probably benign	0.08
R6175:Nlrp9c	UTSW	7	26,077,426 (GRCm39)	splice site	probably null
R6454:Nlrp9c	UTSW	7	26,085,199 (GRCm39)	missense	possibly damaging	0.91
R6493:Nlrp9c	UTSW	7	26,081,812 (GRCm39)	missense	probably damaging	1.00
R6649:Nlrp9c	UTSW	7	26,070,747 (GRCm39)	missense	probably damaging	1.00
R6653:Nlrp9c	UTSW	7	26,070,747 (GRCm39)	missense	probably damaging	1.00
R6739:Nlrp9c	UTSW	7	26,084,850 (GRCm39)	missense	probably damaging	0.99
R6883:Nlrp9c	UTSW	7	26,077,556 (GRCm39)	missense	probably benign	0.18
R7097:Nlrp9c	UTSW	7	26,085,046 (GRCm39)	missense	probably damaging	1.00
R7122:Nlrp9c	UTSW	7	26,085,046 (GRCm39)	missense	probably damaging	1.00
R7174:Nlrp9c	UTSW	7	26,084,722 (GRCm39)	missense	probably benign	0.03
R7365:Nlrp9c	UTSW	7	26,070,822 (GRCm39)	missense	possibly damaging	0.93
R7378:Nlrp9c	UTSW	7	26,064,440 (GRCm39)	missense	probably benign	0.14
R7427:Nlrp9c	UTSW	7	26,070,860 (GRCm39)	missense	probably benign	0.00
R7450:Nlrp9c	UTSW	7	26,064,364 (GRCm39)	missense	probably benign	0.45
R7999:Nlrp9c	UTSW	7	26,084,914 (GRCm39)	missense	possibly damaging	0.94
R8036:Nlrp9c	UTSW	7	26,070,864 (GRCm39)	missense	possibly damaging	0.49
R8056:Nlrp9c	UTSW	7	26,085,112 (GRCm39)	missense	probably damaging	1.00
R8249:Nlrp9c	UTSW	7	26,074,778 (GRCm39)	nonsense	probably null
R8729:Nlrp9c	UTSW	7	26,071,428 (GRCm39)	missense	probably benign	0.12
R9012:Nlrp9c	UTSW	7	26,074,733 (GRCm39)	missense	probably benign	0.18
R9104:Nlrp9c	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
R9106:Nlrp9c	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
R9129:Nlrp9c	UTSW	7	26,077,428 (GRCm39)	critical splice donor site	probably null
R9519:Nlrp9c	UTSW	7	26,085,302 (GRCm39)	missense	possibly damaging	0.91
RF020:Nlrp9c	UTSW	7	26,084,649 (GRCm39)	missense	probably benign
X0065:Nlrp9c	UTSW	7	26,079,855 (GRCm39)	missense	probably damaging	0.99
Z1177:Nlrp9c	UTSW	7	26,084,250 (GRCm39)	missense	possibly damaging	0.54
Z1177:Nlrp9c	UTSW	7	26,084,200 (GRCm39)	missense	probably damaging	1.00
Z1177:Nlrp9c	UTSW	7	26,081,773 (GRCm39)	missense	probably benign	0.28

Posted On

2015-12-18