Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02226:Nlrp4c'

285331

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4c

Ensembl Gene

ENSMUSG00000034690

Gene Name

NLR family, pyrin domain containing 4C

Synonyms

Nalp-alpha, Rnh2, Nalp4c

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02226

Quality Score

Status

Chromosome

Chromosomal Location

6045161-6105150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6066829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 576 (F576L)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

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

AlphaFold

Q3TKR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037728
AA Change: F576L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: F576L

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: F576L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: F576L

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: F576L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	C	X: 89,931,912	D226E	probably damaging	Het
Akap6	T	C	12: 53,010,467		probably benign	Het
Ankrd11	G	A	8: 122,892,245	R1602W	probably damaging	Het
Arhgap23	G	T	11: 97,451,600	R236L	probably benign	Het
Aurkaip1	T	C	4: 155,832,571	V92A	probably benign	Het
Cdh20	A	T	1: 104,954,091		probably benign	Het
Ctnnd2	A	G	15: 30,847,336	N691S	probably benign	Het
Ddx24	A	C	12: 103,424,458	D2E	possibly damaging	Het
Dennd5b	A	G	6: 149,033,301	S691P	probably benign	Het
Dhrs3	C	T	4: 144,923,949	R248W	possibly damaging	Het
Dlgap1	T	C	17: 70,516,034	S5P	probably damaging	Het
Ep300	A	T	15: 81,613,412	M510L	unknown	Het
Fbxo25	T	C	8: 13,923,922		probably benign	Het
Gm3252	A	T	14: 4,743,741	K193M	possibly damaging	Het
Gtf3c1	T	C	7: 125,667,990		probably null	Het
Helz2	T	C	2: 181,231,690	D2337G	probably damaging	Het
Idh1	A	T	1: 65,161,922	M290K	probably damaging	Het
Layn	T	C	9: 51,074,017	S80G	probably damaging	Het
Ltbp4	C	T	7: 27,306,934	E1440K	probably damaging	Het
Mri1	T	C	8: 84,256,295	T166A	probably damaging	Het
Myod1	C	T	7: 46,378,306	T290I	probably benign	Het
Nfat5	T	A	8: 107,351,522	L431*	probably null	Het
Nle1	A	T	11: 82,904,307	Y299*	probably null	Het
Nudt21	G	T	8: 94,019,701	S123*	probably null	Het
Plekhg1	A	C	10: 3,945,916	D436A	probably damaging	Het
Plxna2	T	C	1: 194,644,424	V222A	probably damaging	Het
Rbm14	A	G	19: 4,801,717		probably benign	Het
Scfd1	T	A	12: 51,389,381		probably benign	Het
Slc34a2	A	G	5: 53,067,731	T405A	probably benign	Het
Slc39a9	T	A	12: 80,644,921	M14K	probably damaging	Het
Slc39a9	G	A	12: 80,644,922	M14I	probably damaging	Het
Spast	G	A	17: 74,372,339		probably benign	Het
Spen	T	C	4: 141,478,146	R1057G	unknown	Het
Sptbn4	T	G	7: 27,365,707	T2056P	probably damaging	Het
Ssrp1	T	C	2: 85,040,361	L148P	probably damaging	Het
Tdrd6	T	A	17: 43,627,202	H985L	probably damaging	Het
Tmem44	A	G	16: 30,539,381		probably benign	Het
Vmn2r116	T	A	17: 23,384,834	L11Q	probably null	Het
Wdr78	A	T	4: 103,090,398	I227K	probably benign	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
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
R0347:Nlrp4c	UTSW	7	6066416	missense	possibly damaging	0.69
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
R7966:Nlrp4c	UTSW	7	6066323	missense	probably damaging	0.99
R8506:Nlrp4c	UTSW	7	6100776	missense	possibly damaging	0.47
R8677:Nlrp4c	UTSW	7	6072645	missense	probably damaging	0.99
R8708:Nlrp4c	UTSW	7	6065604	missense	probably damaging	1.00
R8838:Nlrp4c	UTSW	7	6066338	missense
R9031:Nlrp4c	UTSW	7	6104609	makesense	probably null
R9193:Nlrp4c	UTSW	7	6092622	missense	probably benign
R9329:Nlrp4c	UTSW	7	6065499	missense	probably benign
R9388:Nlrp4c	UTSW	7	6066875	nonsense	probably null
R9474:Nlrp4c	UTSW	7	6065627	missense	possibly damaging	0.83
R9567:Nlrp4c	UTSW	7	6060625	missense	probably benign	0.17
R9702:Nlrp4c	UTSW	7	6065802	missense	probably benign	0.00
X0060:Nlrp4c	UTSW	7	6065918	missense	probably damaging	1.00
Z1088:Nlrp4c	UTSW	7	6066636	missense	probably damaging	1.00

Posted On

2015-04-16