Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01464:Nlrp4c'

278501

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 #

IGL01464

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	C	A	1: 165,374,156 (GRCm39)	H748Q	probably damaging	Het
Aebp1	T	C	11: 5,819,822 (GRCm39)	V329A	possibly damaging	Het
Ankk1	T	C	9: 49,327,272 (GRCm39)	T636A	probably benign	Het
Apoh	A	T	11: 108,286,716 (GRCm39)	I47F	probably damaging	Het
Atg9a	A	G	1: 75,167,010 (GRCm39)	S14P	probably damaging	Het
Calb1	T	A	4: 15,881,485 (GRCm39)		probably benign	Het
Ccdc121rt3	A	G	5: 112,503,399 (GRCm39)	S102P	possibly damaging	Het
Cd86	T	C	16: 36,441,315 (GRCm39)	S51G	probably benign	Het
Ctsll3	C	T	13: 60,948,134 (GRCm39)	G181D	probably damaging	Het
Elmod2	G	A	8: 84,043,421 (GRCm39)		probably benign	Het
Ephx3	A	G	17: 32,407,219 (GRCm39)	S240P	probably damaging	Het
Greb1	T	C	12: 16,764,827 (GRCm39)	I435M	probably damaging	Het
Itpr1	A	G	6: 108,363,688 (GRCm39)	D770G	possibly damaging	Het
Kmt2c	G	A	5: 25,557,242 (GRCm39)	T1155I	possibly damaging	Het
Lrp2	T	C	2: 69,302,783 (GRCm39)	D2982G	probably damaging	Het
Map1b	C	T	13: 99,569,251 (GRCm39)	V1157I	unknown	Het
Nlrp9b	T	A	7: 19,796,580 (GRCm39)	N976K	probably benign	Het
Nos1	T	C	5: 118,081,257 (GRCm39)	F1153S	probably damaging	Het
Pnrc1	T	C	4: 33,246,395 (GRCm39)	Y188C	probably benign	Het
Polr3a	A	C	14: 24,520,749 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,083,787 (GRCm39)	T512A	possibly damaging	Het
Rhbdf2	C	T	11: 116,491,734 (GRCm39)	G574S	probably benign	Het
Rnf123	T	C	9: 107,929,501 (GRCm39)	D1217G	probably damaging	Het
Slc19a2	T	C	1: 164,088,430 (GRCm39)	S92P	probably damaging	Het
Sycp2	A	T	2: 178,043,425 (GRCm39)	I139N	probably damaging	Het
Vmn2r91	A	G	17: 18,327,864 (GRCm39)	N486S	probably null	Het
Xpo1	T	A	11: 23,217,703 (GRCm39)	H56Q	probably damaging	Het
Zbtb44	T	A	9: 30,965,580 (GRCm39)	L330H	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
IGL01458: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

2015-04-16