Mutagenetix > Incidental Mutation

Incidental Mutation 'R0018:Nlrp9c'

177876

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

038313-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26064116-26103125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26071423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 895 (Q895L)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

AlphaFold

Q66X01

Predicted Effect

probably benign
Transcript: ENSMUST00000041845

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614

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

possibly damaging
Transcript: ENSMUST00000085944
AA Change: Q895L

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: Q895L

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,532,162 (GRCm39)		probably null	Het
Afp	A	C	5: 90,654,600 (GRCm39)	Q546P	probably damaging	Het
Api5	A	T	2: 94,251,329 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,645,609 (GRCm39)	I982F	probably damaging	Het
BC024139	G	A	15: 76,005,087 (GRCm39)	Q592*	probably null	Het
Capn7	T	A	14: 31,076,069 (GRCm39)	C290*	probably null	Het
Ccn1	A	G	3: 145,355,186 (GRCm39)	L23P	probably damaging	Het
Celsr1	T	A	15: 85,915,243 (GRCm39)	D910V	possibly damaging	Het
Chga	T	C	12: 102,524,764 (GRCm39)	S45P	probably damaging	Het
Cpne2	T	A	8: 95,282,681 (GRCm39)	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 25,785,375 (GRCm39)	R248H	probably benign	Het
Dennd1a	T	A	2: 37,748,472 (GRCm39)	T336S	possibly damaging	Het
Drc7	A	G	8: 95,800,862 (GRCm39)	Y628C	probably damaging	Het
Dse	A	G	10: 34,029,464 (GRCm39)	V542A	probably benign	Het
Dspp	A	T	5: 104,326,096 (GRCm39)	S820C	unknown	Het
Efcab3	G	A	11: 104,612,378 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,057,970 (GRCm39)	S91P	unknown	Het
Epop	A	G	11: 97,519,017 (GRCm39)	V364A	probably benign	Het
Ext2	G	A	2: 93,626,037 (GRCm39)	P341L	probably damaging	Het
Galns	T	C	8: 123,311,724 (GRCm39)	T429A	probably benign	Het
Gsx2	A	G	5: 75,237,828 (GRCm39)	K260R	probably damaging	Het
H2-M10.6	A	C	17: 37,124,941 (GRCm39)	H286P	probably damaging	Het
Hectd4	A	G	5: 121,392,242 (GRCm39)	N169D	possibly damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hmcn1	T	C	1: 150,528,302 (GRCm39)	D3282G	probably benign	Het
Hnmt	T	A	2: 23,893,640 (GRCm39)	N285Y	possibly damaging	Het
Hr	A	G	14: 70,795,717 (GRCm39)	R450G	probably benign	Het
Kat6a	A	G	8: 23,419,289 (GRCm39)	D684G	possibly damaging	Het
Kif27	T	G	13: 58,435,867 (GRCm39)	I1309L	probably benign	Het
Mab21l4	T	A	1: 93,082,327 (GRCm39)	D264V	probably benign	Het
Man2b1	T	A	8: 85,824,118 (GRCm39)	V1005E	probably damaging	Het
Me2	A	T	18: 73,924,923 (GRCm39)	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,779,007 (GRCm39)	T1588S	probably benign	Het
Neu4	T	A	1: 93,953,060 (GRCm39)	D476E	probably benign	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or1p1c	A	C	11: 74,160,934 (GRCm39)	T240P	probably benign	Het
Pdzd8	C	T	19: 59,289,105 (GRCm39)	R765H	probably damaging	Het
Plk1	T	C	7: 121,768,208 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,678,647 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,544,406 (GRCm39)	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,082,951 (GRCm39)		probably benign	Het
Ptchd3	A	C	11: 121,733,170 (GRCm39)	I687L	probably benign	Het
Ptprh	A	G	7: 4,604,845 (GRCm39)		probably null	Het
Pus3	A	G	9: 35,477,920 (GRCm39)	D384G	probably benign	Het
Rab44	C	T	17: 29,358,354 (GRCm39)	P181S	probably benign	Het
Rasa2	A	G	9: 96,454,016 (GRCm39)	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,558,360 (GRCm39)	D142G	probably damaging	Het
Reln	A	T	5: 22,130,369 (GRCm39)	D2647E	probably benign	Het
Ryr2	G	A	13: 11,610,109 (GRCm39)	T4239I	possibly damaging	Het
Sctr	C	A	1: 119,971,286 (GRCm39)		probably benign	Het
Serpinb6e	A	T	13: 34,021,828 (GRCm39)	Y167N	probably damaging	Het
Slc13a5	T	C	11: 72,157,301 (GRCm39)	I31V	probably benign	Het
Slc15a4	A	T	5: 127,679,074 (GRCm39)	I422N	probably damaging	Het
Stk24	G	A	14: 121,545,419 (GRCm39)		probably benign	Het
Vmn1r213	T	A	13: 23,196,311 (GRCm39)	V298D	probably damaging	Het
Xdh	C	T	17: 74,232,020 (GRCm39)	R230H	probably benign	Het
Zfp418	A	T	7: 7,185,449 (GRCm39)	S471C	probably benign	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
IGL02935:Nlrp9c	APN	7	26,084,701 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGATTGTGTCGTTCAGTGCCAGTTC -3'
(R):5'- ACAACTATGTTTTCCCCAGGTTGCC -3'

Sequencing Primer
(F):5'- accccaatctctcccctc -3'
(R):5'- CTGGTTGCTATTTAACTTCAGAATGC -3'

Posted On

2014-04-30