Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01458:Nlrp4c'

84883

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: 0.074) question?

Stock #

IGL01458

Quality Score

Status

Chromosome

Chromosomal Location

6048160-6108148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6103783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 906 (C906R)

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: C906R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: C906R

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: C906R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: C906R

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

possibly damaging
Transcript: ENSMUST00000208360
AA Change: C906R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

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
4930433N12Rik	A	T	9: 3,134,008 (GRCm39)		noncoding transcript	Het
Akap12	A	G	10: 4,304,060 (GRCm39)	E290G	probably damaging	Het
Akap6	T	A	12: 52,933,601 (GRCm39)	C364*	probably null	Het
Akr1c18	A	T	13: 4,187,143 (GRCm39)	Y198N	probably damaging	Het
Aurka	T	C	2: 172,210,899 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,135 (GRCm39)		probably null	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Csn2	T	C	5: 87,843,879 (GRCm39)		probably benign	Het
Dsc1	T	C	18: 20,232,195 (GRCm39)	E271G	probably damaging	Het
Eif1ad4	A	T	12: 87,862,158 (GRCm39)	K7*	probably null	Het
Evi5	G	A	5: 107,963,513 (GRCm39)	A354V	probably damaging	Het
Fcer2a	T	A	8: 3,738,151 (GRCm39)	R137S	probably benign	Het
Fto	A	G	8: 92,168,344 (GRCm39)	T266A	probably benign	Het
Fzd4	G	A	7: 89,053,943 (GRCm39)	V17I	unknown	Het
Gadd45b	T	C	10: 80,767,075 (GRCm39)	L105P	probably damaging	Het
Galntl6	T	C	8: 58,880,743 (GRCm39)	S137G	probably damaging	Het
Gpr135	T	C	12: 72,116,442 (GRCm39)	M442V	probably benign	Het
Kcnq1	T	A	7: 142,748,015 (GRCm39)	Y330*	probably null	Het
Kdm5b	A	G	1: 134,549,724 (GRCm39)	R1106G	possibly damaging	Het
Lrrc8e	C	T	8: 4,286,141 (GRCm39)	R789W	probably damaging	Het
Myo16	T	C	8: 10,485,853 (GRCm39)	L644P	probably damaging	Het
Nbeal1	G	T	1: 60,281,784 (GRCm39)		probably null	Het
Or10ag56	C	T	2: 87,139,826 (GRCm39)	T251I	probably damaging	Het
Or1e29	A	T	11: 73,667,532 (GRCm39)	I207N	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Ovgp1	A	G	3: 105,882,307 (GRCm39)	N70D	probably benign	Het
Panx3	A	T	9: 37,572,443 (GRCm39)	M369K	probably damaging	Het
Plet1	A	G	9: 50,406,017 (GRCm39)	N52S	probably benign	Het
Prss1l	T	G	6: 41,373,621 (GRCm39)	D161E	probably benign	Het
Psg18	A	T	7: 18,088,741 (GRCm39)	M1K	probably null	Het
Ptprz1	A	T	6: 22,972,843 (GRCm39)	D251V	probably damaging	Het
Serpinb6a	A	G	13: 34,114,064 (GRCm39)	Y88H	possibly damaging	Het
Siglecf	G	A	7: 43,004,562 (GRCm39)	R297Q	possibly damaging	Het
Tbx15	T	C	3: 99,223,544 (GRCm39)	V244A	probably damaging	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Trim39	A	G	17: 36,574,855 (GRCm39)		probably benign	Het
Vps37c	T	C	19: 10,687,781 (GRCm39)	C81R	probably damaging	Het
Wdr62	A	T	7: 29,941,187 (GRCm39)	S744T	probably benign	Het
Zyg11a	G	A	4: 108,062,099 (GRCm39)	T234I	probably damaging	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
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
IGL01531:Nlrp4c	APN	7	6,063,655 (GRCm39)	missense	probably damaging	1.00
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

2013-11-11