Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03006:Nlrp9c'

407540

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03006

Quality Score

Status

Chromosome

Chromosomal Location

26322473-26403700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26372082 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 867 (T867I)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000085944
AA Change: T867I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: T867I

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

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
1700012B07Rik	T	A	11: 109,827,845	S21C	probably damaging	Het
1700037H04Rik	A	C	2: 131,151,714	D22E	probably damaging	Het
2210408I21Rik	T	C	13: 77,323,772		probably null	Het
Abcc3	T	C	11: 94,368,595	D340G	probably benign	Het
Adamts17	G	T	7: 67,078,347	R879L	possibly damaging	Het
Cacna1f	C	A	X: 7,626,903	T1275K	probably damaging	Het
Csmd2	T	A	4: 128,480,765		probably benign	Het
Dll1	C	T	17: 15,373,592	R171Q	probably benign	Het
Dnm1	T	A	2: 32,353,121	D30V	possibly damaging	Het
Fam184a	G	A	10: 53,698,697	S216L	probably damaging	Het
Fbxo33	G	A	12: 59,204,319	A470V	probably benign	Het
Gm6401	C	T	14: 41,966,894	E73K	possibly damaging	Het
Ighv7-1	A	T	12: 113,896,525	S82R	probably damaging	Het
Klk1b4	A	G	7: 44,211,595	I221V	probably benign	Het
Lama3	T	C	18: 12,468,368		probably benign	Het
Lrch1	A	G	14: 74,813,620	L359P	probably damaging	Het
Mapk8ip3	T	C	17: 24,901,515	T882A	probably benign	Het
Med12	C	T	X: 101,278,078	R456W	probably damaging	Het
Mms22l	T	C	4: 24,521,253	S267P	probably damaging	Het
Mtpap	G	A	18: 4,375,721	G34R	possibly damaging	Het
Nf1	G	A	11: 79,545,431	D1966N	probably damaging	Het
Nrap	C	T	19: 56,347,164	V941I	probably benign	Het
Olfr172	T	A	16: 58,761,148	K9N	probably benign	Het
Pcdh10	A	G	3: 45,379,502	I84V	probably damaging	Het
Polr3d	T	A	14: 70,441,163		probably null	Het
Prkar2a	G	T	9: 108,740,441	V233L	probably benign	Het
Prl4a1	T	C	13: 28,023,376	V211A	probably damaging	Het
Qpct	T	C	17: 79,070,722	V107A	probably benign	Het
Rai1	T	C	11: 60,188,205	S1032P	possibly damaging	Het
Rims1	G	T	1: 22,296,954	T1113K	probably damaging	Het
Rxra	C	T	2: 27,759,645	T454I	probably damaging	Het
S100z	T	C	13: 95,478,619	I13V	probably damaging	Het
Scp2	T	C	4: 108,091,280	K167E	probably benign	Het
Sephs2	A	G	7: 127,273,034	F296L	probably benign	Het
Setd1b	A	G	5: 123,148,451	E520G	unknown	Het
Slc28a2	G	A	2: 122,452,538	V308M	possibly damaging	Het
Smarcad1	T	A	6: 65,083,889	I451K	probably benign	Het
Tarbp1	C	T	8: 126,444,142	D1040N	probably damaging	Het
Tdrd6	T	C	17: 43,625,432	D1575G	probably damaging	Het
Tll1	T	A	8: 64,074,217		probably benign	Het
Tsks	A	T	7: 44,950,774		probably benign	Het
Ttc1	A	T	11: 43,745,320	M32K	probably benign	Het
Txlnb	C	T	10: 17,838,975	A385V	probably damaging	Het
Zc4h2	T	C	X: 95,643,413	H98R	probably damaging	Het

Other mutations in Nlrp9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Nlrp9c	APN	7	26384588	missense	probably benign	0.00
IGL00814:Nlrp9c	APN	7	26384750	missense	probably benign	0.23
IGL00919:Nlrp9c	APN	7	26394056	nonsense	probably null
IGL01762:Nlrp9c	APN	7	26385425	missense	probably damaging	1.00
IGL01928:Nlrp9c	APN	7	26375422	splice site	probably benign
IGL02008:Nlrp9c	APN	7	26385151	missense	probably benign	0.16
IGL02389:Nlrp9c	APN	7	26394207	missense	probably benign
IGL02535:Nlrp9c	APN	7	26372097	missense	probably damaging	1.00
IGL02685:Nlrp9c	APN	7	26385557	missense	probably damaging	0.98
IGL02904:Nlrp9c	APN	7	26375290	missense	probably damaging	1.00
IGL02935:Nlrp9c	APN	7	26385276	missense	probably benign	0.00
IGL03140:Nlrp9c	APN	7	26380489	missense	probably benign	0.30
IGL03201:Nlrp9c	APN	7	26385108	missense	probably benign	0.00
IGL03243:Nlrp9c	APN	7	26365032	missense	probably damaging	0.99
IGL03054:Nlrp9c	UTSW	7	26382276	splice site	probably null
K7894:Nlrp9c	UTSW	7	26384898	missense	possibly damaging	0.94
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0335:Nlrp9c	UTSW	7	26394136	missense	possibly damaging	0.92
R0391:Nlrp9c	UTSW	7	26371476	splice site	probably benign
R0433:Nlrp9c	UTSW	7	26385819	missense	probably benign	0.20
R1035:Nlrp9c	UTSW	7	26371277	splice site	probably benign
R1118:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1119:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1173:Nlrp9c	UTSW	7	26380435	missense	probably damaging	1.00
R1519:Nlrp9c	UTSW	7	26378101	missense	possibly damaging	0.88
R1528:Nlrp9c	UTSW	7	26382298	missense	probably damaging	0.99
R1616:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1774:Nlrp9c	UTSW	7	26394118	missense	probably benign	0.05
R1789:Nlrp9c	UTSW	7	26380490	missense	probably benign	0.00
R1869:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1870:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1920:Nlrp9c	UTSW	7	26384894	missense	probably damaging	1.00
R1987:Nlrp9c	UTSW	7	26378056	missense	probably benign	0.31
R2022:Nlrp9c	UTSW	7	26384796	missense	probably damaging	1.00
R2309:Nlrp9c	UTSW	7	26378087	missense	probably damaging	1.00
R2327:Nlrp9c	UTSW	7	26375322	missense	probably damaging	1.00
R3405:Nlrp9c	UTSW	7	26385282	missense	probably benign	0.01
R3548:Nlrp9c	UTSW	7	26371451	missense	probably damaging	1.00
R3846:Nlrp9c	UTSW	7	26382276	splice site	probably null
R4179:Nlrp9c	UTSW	7	26384661	missense	possibly damaging	0.74
R4460:Nlrp9c	UTSW	7	26378098	missense	probably damaging	1.00
R4669:Nlrp9c	UTSW	7	26375368	missense	possibly damaging	0.90
R4708:Nlrp9c	UTSW	7	26384840	missense	probably benign	0.07
R4810:Nlrp9c	UTSW	7	26378177	splice site	probably null
R4824:Nlrp9c	UTSW	7	26380564	missense	possibly damaging	0.49
R4915:Nlrp9c	UTSW	7	26384460	missense	probably benign	0.34
R4996:Nlrp9c	UTSW	7	26385747	missense	possibly damaging	0.92
R5468:Nlrp9c	UTSW	7	26365000	missense	probably benign	0.00
R5525:Nlrp9c	UTSW	7	26384501	missense	probably damaging	1.00
R5526:Nlrp9c	UTSW	7	26382366	missense	possibly damaging	0.95
R6020:Nlrp9c	UTSW	7	26384725	missense	probably benign	0.08
R6175:Nlrp9c	UTSW	7	26378001	splice site	probably null
R6454:Nlrp9c	UTSW	7	26385774	missense	possibly damaging	0.91
R6493:Nlrp9c	UTSW	7	26382387	missense	probably damaging	1.00
R6649:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6653:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6739:Nlrp9c	UTSW	7	26385425	missense	probably damaging	0.99
R6883:Nlrp9c	UTSW	7	26378131	missense	probably benign	0.18
R7097:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7122:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7174:Nlrp9c	UTSW	7	26385297	missense	probably benign	0.03
R7365:Nlrp9c	UTSW	7	26371397	missense	possibly damaging	0.93
R7378:Nlrp9c	UTSW	7	26365015	missense	probably benign	0.14
R7427:Nlrp9c	UTSW	7	26371435	missense	probably benign	0.00
R7450:Nlrp9c	UTSW	7	26364939	missense	probably benign	0.45
R7999:Nlrp9c	UTSW	7	26385489	missense	possibly damaging	0.94
R8036:Nlrp9c	UTSW	7	26371439	missense	possibly damaging	0.49
R8056:Nlrp9c	UTSW	7	26385687	missense	probably damaging	1.00
R8249:Nlrp9c	UTSW	7	26375353	nonsense	probably null
R8729:Nlrp9c	UTSW	7	26372003	missense	probably benign	0.12
RF020:Nlrp9c	UTSW	7	26385224	missense	probably benign
X0065:Nlrp9c	UTSW	7	26380430	missense	probably damaging	0.99
Z1177:Nlrp9c	UTSW	7	26382348	missense	probably benign	0.28
Z1177:Nlrp9c	UTSW	7	26384775	missense	probably damaging	1.00
Z1177:Nlrp9c	UTSW	7	26384825	missense	possibly damaging	0.54

Posted On

2016-08-02