Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Nlrp9c'

183229

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 #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

26322473-26403700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26385151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 334 (S334R)

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: S334R

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: S334R

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: S334R

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: S334R

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,176,101	T2252A	probably benign	Het
Abcc2	C	T	19: 43,821,750		probably benign	Het
Abcf1	T	C	17: 35,962,062	E231G	probably benign	Het
Astn2	T	C	4: 66,059,153	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,538,695		probably benign	Het
Atr	T	A	9: 95,881,420		probably benign	Het
Bdp1	A	G	13: 100,023,827	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,560,966	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,715,924	S218G	probably null	Het
Cand2	T	C	6: 115,803,638	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,580,960	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,603,091	V161D	probably damaging	Het
Ctsh	A	G	9: 90,061,547	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,688,923	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,688,924	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,091,099	W212*	probably null	Het
Dnah5	T	A	15: 28,343,552	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,612,920	M794T	probably damaging	Het
F11	G	T	8: 45,250,095	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,532,823	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705	I347V	probably benign	Het
Fip1l1	C	T	5: 74,545,423	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,546,450	D598A	probably benign	Het
Gm1110	T	A	9: 26,883,230	D500V	probably benign	Het
Gm1840	A	T	8: 5,639,896		noncoding transcript	Het
Gm3248	T	A	14: 5,943,928	M99L	probably benign	Het
Gm906	G	A	13: 50,246,685	P535L	probably benign	Het
Hspa9	G	A	18: 34,947,975	R218*	probably null	Het
Ikbip	G	A	10: 91,093,257		probably null	Het
Kcnb2	C	T	1: 15,710,809	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,978,279	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,570,957	T442A	probably benign	Het
Mgat1	T	A	11: 49,260,735	I15N	probably damaging	Het
Notch2	A	T	3: 98,147,296	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,213,263	V520M	probably damaging	Het
Olfr1089	A	C	2: 86,733,177	I145R	possibly damaging	Het
Olfr1167	A	T	2: 88,149,578	V147E	probably damaging	Het
Olfr1179	T	A	2: 88,402,077	T286S	possibly damaging	Het
Olfr149	A	G	9: 39,702,253	V172A	probably damaging	Het
Olfr803	T	A	10: 129,692,018	T8S	probably benign	Het
Olfr972	A	T	9: 39,873,485	D70V	probably damaging	Het
Osr2	A	G	15: 35,301,992	H246R	probably damaging	Het
Papolg	T	C	11: 23,879,898	R224G	probably damaging	Het
Pax6	T	A	2: 105,692,278		probably null	Het
Pcyox1	A	G	6: 86,392,268	V192A	probably benign	Het
Phf1	C	T	17: 26,935,286	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,332,391	R45W	probably damaging	Het
Psmb9	T	A	17: 34,183,679	K109M	probably damaging	Het
Ptprt	T	A	2: 161,927,673	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,689,766	I70V	probably benign	Het
Rnf213	G	A	11: 119,418,309		probably benign	Het
Rom1	T	A	19: 8,928,004	I271F	probably benign	Het
Satb2	T	A	1: 56,796,793	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,448,129	G159V	possibly damaging	Het
Slit1	T	C	19: 41,646,140	I393V	probably damaging	Het
Spata20	T	A	11: 94,483,463	D327V	probably damaging	Het
Tbc1d32	G	T	10: 56,151,775	Q744K	possibly damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tmem108	G	T	9: 103,489,240	N517K	possibly damaging	Het
Trp63	T	A	16: 25,862,461	N160K	probably damaging	Het
Ttll5	T	C	12: 85,933,611	S119P	probably damaging	Het
Ubqln3	T	A	7: 104,142,316	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,737,776	R638H	probably benign	Het
Wdr3	A	G	3: 100,150,982	S436P	probably damaging	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfp976	A	T	7: 42,614,232		probably benign	Het
Zmiz1	A	G	14: 25,656,879	M860V	probably damaging	Het
Zscan4d	T	C	7: 11,162,369	E358G	probably benign	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
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
IGL03006:Nlrp9c	APN	7	26372082	missense	probably damaging	0.98
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
holy_grail	UTSW	7	26382412	missense	probably benign
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
R9012:Nlrp9c	UTSW	7	26375308	missense	probably benign	0.18
R9104:Nlrp9c	UTSW	7	26382412	missense	probably benign
R9106:Nlrp9c	UTSW	7	26382412	missense	probably benign
R9129:Nlrp9c	UTSW	7	26378003	critical splice donor site	probably null
R9519:Nlrp9c	UTSW	7	26385877	missense	possibly damaging	0.91
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

2014-05-07