Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01531:Nlrp4c'

89749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4c

Ensembl Gene

ENSMUSG00000034690

Gene Name

NLR family, pyrin domain containing 4C

Synonyms

Nalp4c, Nalp-alpha, Rnh2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL01531

Quality Score

Status

Chromosome

Chromosomal Location

6048160-6108148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6063655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 21 (E21G)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

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

AlphaFold

Q3TKR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000037728
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: E21G

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

probably damaging
Transcript: ENSMUST00000121583
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: E21G

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

probably damaging
Transcript: ENSMUST00000208360
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,494 (GRCm39)		probably null	Het
Abtb3	T	C	10: 85,465,069 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,119,414 (GRCm39)	V1019A	possibly damaging	Het
Blm	A	G	7: 80,123,819 (GRCm39)	Y1004H	probably damaging	Het
Cachd1	A	C	4: 100,810,231 (GRCm39)	I278L	probably benign	Het
Ddx18	T	A	1: 121,492,315 (GRCm39)	T131S	probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dlgap1	A	G	17: 70,823,374 (GRCm39)	T120A	probably damaging	Het
Dnaja3	T	G	16: 4,512,268 (GRCm39)	V224G	probably damaging	Het
Dntt	A	T	19: 41,041,677 (GRCm39)	R454*	probably null	Het
Dync2h1	T	A	9: 7,071,111 (GRCm39)	T3083S	probably benign	Het
Eea1	C	A	10: 95,867,539 (GRCm39)	T1045K	probably damaging	Het
Gpnmb	T	A	6: 49,024,392 (GRCm39)		probably benign	Het
Hirip3	A	G	7: 126,462,548 (GRCm39)	E108G	possibly damaging	Het
Il33	C	A	19: 29,929,381 (GRCm39)	Q35K	possibly damaging	Het
Il6ra	G	A	3: 89,793,350 (GRCm39)	L267F	probably damaging	Het
Impact	C	T	18: 13,109,076 (GRCm39)	S69F	probably benign	Het
Klk1b9	G	A	7: 43,441,675 (GRCm39)	G39D	probably damaging	Het
Ldah	A	G	12: 8,277,337 (GRCm39)	D91G	probably benign	Het
Lrp4	T	C	2: 91,341,898 (GRCm39)	L1837P	probably damaging	Het
Mov10l1	T	A	15: 88,938,555 (GRCm39)	H1204Q	probably damaging	Het
Or12k8	T	C	2: 36,975,407 (GRCm39)	M118V	possibly damaging	Het
Or52ae9	T	A	7: 103,390,321 (GRCm39)	N42I	probably damaging	Het
Osbpl1a	T	G	18: 13,066,638 (GRCm39)	K40N	probably damaging	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Rp1	A	G	1: 4,419,168 (GRCm39)	V648A	probably benign	Het
Scn9a	T	C	2: 66,367,722 (GRCm39)	K654E	probably benign	Het
Sema3d	A	G	5: 12,591,047 (GRCm39)	I309V	probably benign	Het
Slc6a2	T	C	8: 93,722,310 (GRCm39)	L519P	probably damaging	Het
Stard9	A	G	2: 120,504,085 (GRCm39)	I211V	possibly damaging	Het
Stau2	T	C	1: 16,415,922 (GRCm39)	*480W	probably null	Het
Svopl	T	C	6: 38,003,876 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Zan	G	A	5: 137,422,874 (GRCm39)	T2713I	unknown	Het

Other mutations in Nlrp4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Nlrp4c	APN	7	6,069,701 (GRCm39)	missense	possibly damaging	0.80
IGL01458:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01464:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01470:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01481:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01595:Nlrp4c	APN	7	6,069,111 (GRCm39)	nonsense	probably null
IGL02087:Nlrp4c	APN	7	6,095,582 (GRCm39)	missense	probably damaging	1.00
IGL02226:Nlrp4c	APN	7	6,069,828 (GRCm39)	missense	possibly damaging	0.78
IGL02588:Nlrp4c	APN	7	6,087,647 (GRCm39)	missense	probably benign	0.25
IGL02822:Nlrp4c	APN	7	6,068,726 (GRCm39)	missense	probably damaging	1.00
IGL02884:Nlrp4c	APN	7	6,101,951 (GRCm39)	missense	probably damaging	1.00
IGL02943:Nlrp4c	APN	7	6,068,974 (GRCm39)	missense	probably damaging	0.96
IGL03017:Nlrp4c	APN	7	6,087,679 (GRCm39)	missense	probably benign	0.23
R0347:Nlrp4c	UTSW	7	6,069,415 (GRCm39)	missense	possibly damaging	0.69
R0579:Nlrp4c	UTSW	7	6,063,844 (GRCm39)	missense	probably benign	0.05
R1051:Nlrp4c	UTSW	7	6,068,942 (GRCm39)	missense	probably benign	0.01
R1596:Nlrp4c	UTSW	7	6,069,777 (GRCm39)	missense	probably benign
R1636:Nlrp4c	UTSW	7	6,069,737 (GRCm39)	missense	possibly damaging	0.64
R1739:Nlrp4c	UTSW	7	6,076,221 (GRCm39)	missense	probably damaging	1.00
R1766:Nlrp4c	UTSW	7	6,076,113 (GRCm39)	missense	probably benign	0.00
R1824:Nlrp4c	UTSW	7	6,069,955 (GRCm39)	splice site	probably null
R1827:Nlrp4c	UTSW	7	6,068,765 (GRCm39)	missense	probably damaging	1.00
R1858:Nlrp4c	UTSW	7	6,087,655 (GRCm39)	missense	probably benign	0.02
R1902:Nlrp4c	UTSW	7	6,068,818 (GRCm39)	missense	probably damaging	0.98
R2217:Nlrp4c	UTSW	7	6,076,113 (GRCm39)	missense	probably benign
R2415:Nlrp4c	UTSW	7	6,069,047 (GRCm39)	missense	probably damaging	1.00
R3004:Nlrp4c	UTSW	7	6,068,524 (GRCm39)	missense	probably benign	0.28
R3005:Nlrp4c	UTSW	7	6,068,524 (GRCm39)	missense	probably benign	0.28
R3410:Nlrp4c	UTSW	7	6,095,569 (GRCm39)	missense	possibly damaging	0.69
R3411:Nlrp4c	UTSW	7	6,095,569 (GRCm39)	missense	possibly damaging	0.69
R3710:Nlrp4c	UTSW	7	6,068,627 (GRCm39)	missense	probably damaging	0.99
R4072:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4073:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4075:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4076:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4542:Nlrp4c	UTSW	7	6,103,826 (GRCm39)	nonsense	probably null
R4709:Nlrp4c	UTSW	7	6,068,424 (GRCm39)	missense	probably benign	0.31
R4776:Nlrp4c	UTSW	7	6,069,125 (GRCm39)	missense	probably benign	0.41
R5043:Nlrp4c	UTSW	7	6,069,824 (GRCm39)	missense	probably benign	0.01
R5258:Nlrp4c	UTSW	7	6,069,622 (GRCm39)	missense	probably benign	0.06
R6164:Nlrp4c	UTSW	7	6,095,507 (GRCm39)	missense	probably damaging	1.00
R6383:Nlrp4c	UTSW	7	6,069,052 (GRCm39)	missense	probably benign
R6650:Nlrp4c	UTSW	7	6,068,948 (GRCm39)	missense	probably damaging	0.99
R6810:Nlrp4c	UTSW	7	6,069,754 (GRCm39)	missense	probably damaging	1.00
R7095:Nlrp4c	UTSW	7	6,063,792 (GRCm39)	missense	probably damaging	0.97
R7102:Nlrp4c	UTSW	7	6,068,708 (GRCm39)	nonsense	probably null
R7104:Nlrp4c	UTSW	7	6,068,708 (GRCm39)	nonsense	probably null
R7232:Nlrp4c	UTSW	7	6,068,708 (GRCm39)	nonsense	probably null
R7444:Nlrp4c	UTSW	7	6,095,595 (GRCm39)	nonsense	probably null
R7705:Nlrp4c	UTSW	7	6,075,635 (GRCm39)	missense	probably damaging	0.97
R7966:Nlrp4c	UTSW	7	6,069,322 (GRCm39)	missense	probably damaging	0.99
R8506:Nlrp4c	UTSW	7	6,103,775 (GRCm39)	missense	possibly damaging	0.47
R8677:Nlrp4c	UTSW	7	6,075,644 (GRCm39)	missense	probably damaging	0.99
R8708:Nlrp4c	UTSW	7	6,068,603 (GRCm39)	missense	probably damaging	1.00
R8838:Nlrp4c	UTSW	7	6,069,337 (GRCm39)	missense
R9031:Nlrp4c	UTSW	7	6,107,608 (GRCm39)	makesense	probably null
R9193:Nlrp4c	UTSW	7	6,095,621 (GRCm39)	missense	probably benign
R9329:Nlrp4c	UTSW	7	6,068,498 (GRCm39)	missense	probably benign
R9388:Nlrp4c	UTSW	7	6,069,874 (GRCm39)	nonsense	probably null
R9474:Nlrp4c	UTSW	7	6,068,626 (GRCm39)	missense	possibly damaging	0.83
R9567:Nlrp4c	UTSW	7	6,063,624 (GRCm39)	missense	probably benign	0.17
R9702:Nlrp4c	UTSW	7	6,068,801 (GRCm39)	missense	probably benign	0.00
X0060:Nlrp4c	UTSW	7	6,068,917 (GRCm39)	missense	probably damaging	1.00
Z1088:Nlrp4c	UTSW	7	6,069,635 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03