Mutagenetix > Incidental Mutations

Incidental Mutation 'R0347:Nlrp4c'

38450

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4c

Ensembl Gene

ENSMUSG00000034690

Gene Name

NLR family, pyrin domain containing 4C

Synonyms

Nalp-alpha, Rnh2, Nalp4c

MMRRC Submission

038554-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0347 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6045161-6105150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6066416 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 439 (K439E)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037728] [ENSMUST00000121583] [ENSMUST00000208360]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037728
AA Change: K439E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: K439E

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.41e-34	SMART
Pfam:NACHT	148	317	4.5e-40	PFAM
LRR	689	716	2.91e0	SMART
LRR	718	745	1.49e1	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	6.24e1	SMART
LRR	802	829	3.07e-1	SMART
LRR	831	858	4.11e-1	SMART
LRR	859	886	3.31e-6	SMART
LRR	888	915	6.16e0	SMART
LRR	916	943	9.24e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121583
AA Change: K439E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: K439E

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.41e-34	SMART
Pfam:NACHT	148	317	1.7e-39	PFAM
LRR	689	716	2.91e0	SMART
LRR	718	745	1.49e1	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	6.24e1	SMART
LRR	802	829	3.07e-1	SMART
LRR	831	858	4.11e-1	SMART
LRR	859	886	3.31e-6	SMART
LRR	888	915	6.16e0	SMART
LRR	916	943	9.24e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207267

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208360
AA Change: K439E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.3262

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	T	10: 77,984,422	I209F	probably damaging	Het
5830411N06Rik	T	A	7: 140,297,854	H800Q	probably damaging	Het
Abca4	A	G	3: 122,120,099	E908G	probably benign	Het
Abcb5	T	A	12: 118,965,251		probably benign	Het
Adhfe1	T	A	1: 9,553,430	F102Y	probably benign	Het
Aff4	A	G	11: 53,400,088	Y625C	probably benign	Het
Alox5	T	C	6: 116,413,552	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,193,754	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,702,022	*1084R	probably null	Het
Apol10a	A	T	15: 77,488,691	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,617,744	T70I	unknown	Het
Arid2	A	G	15: 96,370,952	N982S	probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Camsap3	A	G	8: 3,602,029	D291G	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,059,827	G162V	probably damaging	Het
Cep44	T	G	8: 56,545,475	E56A	probably damaging	Het
Cfap65	A	G	1: 74,926,444	L469P	probably damaging	Het
Cilp	T	A	9: 65,280,153	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,545,754	P7S	probably damaging	Het
Cyp11a1	T	C	9: 58,016,260		probably benign	Het
Cyp3a11	C	T	5: 145,865,925	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,181,392	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,240,944	S2678T	probably damaging	Het
Dock1	T	C	7: 134,763,867	I428T	probably damaging	Het
Fam83f	A	G	15: 80,672,257	D114G	probably damaging	Het
Flt3	T	A	5: 147,357,992	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,590,175	F31L	probably damaging	Het
Glrx3	G	A	7: 137,437,701	E10K	unknown	Het
Gm12185	T	C	11: 48,915,182	E394G	probably benign	Het
Gm15448	A	T	7: 3,822,874	V332E	probably damaging	Het
Gpatch1	C	T	7: 35,297,631	V381M	probably benign	Het
Grm8	T	C	6: 27,981,222	S230G	probably benign	Het
Heyl	A	T	4: 123,233,940	D25V	probably benign	Het
Junb	G	A	8: 84,978,478		probably benign	Het
Klhl29	C	A	12: 5,084,354	V747F	probably damaging	Het
Krt77	T	C	15: 101,859,869	H569R	unknown	Het
Ldhb	T	C	6: 142,494,133	N227S	probably benign	Het
Megf6	A	G	4: 154,254,635	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,210,693	Q136L	probably benign	Het
Myh2	C	T	11: 67,185,304		probably benign	Het
Nadk2	T	A	15: 9,084,207	D133E	probably benign	Het
Neurod4	G	A	10: 130,271,111	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,536,290	T465K	probably damaging	Het
Nipbl	A	G	15: 8,350,732	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155		probably benign	Het
Olfr1419	A	T	19: 11,870,433	L261H	probably damaging	Het
Olfr392	C	T	11: 73,814,311	G257D	probably damaging	Het
Olfr434	T	C	6: 43,217,362	F150L	probably benign	Het
Pds5b	T	A	5: 150,736,427		probably benign	Het
Plch1	A	G	3: 63,753,316	M282T	probably damaging	Het
Plch2	C	A	4: 154,986,721	R1067L	possibly damaging	Het
Pou2f2	A	C	7: 25,097,701	F206V	probably damaging	Het
Prss50	A	G	9: 110,862,350	I49V	probably damaging	Het
Rexo5	T	A	7: 119,823,896		probably null	Het
Rgl2	C	T	17: 33,932,738	T252I	probably damaging	Het
Rp1l1	A	T	14: 64,030,804	K1280*	probably null	Het
Rpl24	T	A	16: 55,970,177		probably null	Het
Satb1	T	A	17: 51,739,906	K763*	probably null	Het
Sema6a	T	A	18: 47,291,129	R237S	probably damaging	Het
Spg11	T	C	2: 122,097,369	T645A	probably damaging	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Tanc1	T	C	2: 59,842,991	V1480A	probably benign	Het
Tbc1d2	T	C	4: 46,620,574	D412G	possibly damaging	Het
Tecrl	T	C	5: 83,294,632	E198G	probably damaging	Het
Tigd4	A	G	3: 84,593,860	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,441,648	L226V	probably benign	Het
Ttll13	T	C	7: 80,260,505	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,910,233	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,793,543	H98Q	probably damaging	Het
Zfp651	C	T	9: 121,763,102	P198S	probably damaging	Het
Zfp959	T	A	17: 55,897,180	Y69*	probably null	Het
Znrd1as	T	A	17: 36,965,315	M114K	probably damaging	Het

Other mutations in Nlrp4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Nlrp4c	APN	7	6066702	missense	possibly damaging	0.80
IGL01458:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01464:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01470:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01481:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01531:Nlrp4c	APN	7	6060656	missense	probably damaging	1.00
IGL01595:Nlrp4c	APN	7	6066112	nonsense	probably null
IGL02087:Nlrp4c	APN	7	6092583	missense	probably damaging	1.00
IGL02226:Nlrp4c	APN	7	6066829	missense	possibly damaging	0.78
IGL02588:Nlrp4c	APN	7	6084648	missense	probably benign	0.25
IGL02822:Nlrp4c	APN	7	6065727	missense	probably damaging	1.00
IGL02884:Nlrp4c	APN	7	6098952	missense	probably damaging	1.00
IGL02943:Nlrp4c	APN	7	6065975	missense	probably damaging	0.96
IGL03017:Nlrp4c	APN	7	6084680	missense	probably benign	0.23
R0579:Nlrp4c	UTSW	7	6060845	missense	probably benign	0.05
R1051:Nlrp4c	UTSW	7	6065943	missense	probably benign	0.01
R1596:Nlrp4c	UTSW	7	6066778	missense	probably benign
R1636:Nlrp4c	UTSW	7	6066738	missense	possibly damaging	0.64
R1739:Nlrp4c	UTSW	7	6073222	missense	probably damaging	1.00
R1766:Nlrp4c	UTSW	7	6073114	missense	probably benign	0.00
R1824:Nlrp4c	UTSW	7	6066956	splice site	probably null
R1827:Nlrp4c	UTSW	7	6065766	missense	probably damaging	1.00
R1858:Nlrp4c	UTSW	7	6084656	missense	probably benign	0.02
R1902:Nlrp4c	UTSW	7	6065819	missense	probably damaging	0.98
R2217:Nlrp4c	UTSW	7	6073114	missense	probably benign
R2415:Nlrp4c	UTSW	7	6066048	missense	probably damaging	1.00
R3004:Nlrp4c	UTSW	7	6065525	missense	probably benign	0.28
R3005:Nlrp4c	UTSW	7	6065525	missense	probably benign	0.28
R3410:Nlrp4c	UTSW	7	6092570	missense	possibly damaging	0.69
R3411:Nlrp4c	UTSW	7	6092570	missense	possibly damaging	0.69
R3710:Nlrp4c	UTSW	7	6065628	missense	probably damaging	0.99
R4072:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4073:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4075:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4076:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4542:Nlrp4c	UTSW	7	6100827	nonsense	probably null
R4709:Nlrp4c	UTSW	7	6065425	missense	probably benign	0.31
R4776:Nlrp4c	UTSW	7	6066126	missense	probably benign	0.41
R5043:Nlrp4c	UTSW	7	6066825	missense	probably benign	0.01
R5258:Nlrp4c	UTSW	7	6066623	missense	probably benign	0.06
R6164:Nlrp4c	UTSW	7	6092508	missense	probably damaging	1.00
R6383:Nlrp4c	UTSW	7	6066053	missense	probably benign
R6650:Nlrp4c	UTSW	7	6065949	missense	probably damaging	0.99
R6810:Nlrp4c	UTSW	7	6066755	missense	probably damaging	1.00
R7095:Nlrp4c	UTSW	7	6060793	missense	probably damaging	0.97
R7102:Nlrp4c	UTSW	7	6065709	nonsense	probably null
R7104:Nlrp4c	UTSW	7	6065709	nonsense	probably null
R7232:Nlrp4c	UTSW	7	6065709	nonsense	probably null
R7444:Nlrp4c	UTSW	7	6092596	nonsense	probably null
R7705:Nlrp4c	UTSW	7	6072636	missense	probably damaging	0.97
X0060:Nlrp4c	UTSW	7	6065918	missense	probably damaging	1.00
Z1088:Nlrp4c	UTSW	7	6066636	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAAAGCCAAGCTCAGCTTCAG -3'
(R):5'- TGCCACTTATGGTTTCCAGGCAC -3'

Sequencing Primer
(F):5'- AGCTCAGCTTCAGAGCTTG -3'
(R):5'- GTTTCCAGGCACTGATACAACTG -3'

Posted On

2013-05-23