Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01595:Nlrp4c'

93370

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 #

IGL01595

Quality Score

Status

Chromosome

Chromosomal Location

6048160-6108148 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 6069111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 337 (C337*)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

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

AlphaFold

Q3TKR3

Predicted Effect

probably null
Transcript: ENSMUST00000037728
AA Change: C337*

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: C337*

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 null
Transcript: ENSMUST00000121583
AA Change: C337*

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: C337*

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

probably null
Transcript: ENSMUST00000208360
AA Change: C337*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,968,181 (GRCm39)	M111V	probably damaging	Het
Adamts14	A	T	10: 61,041,252 (GRCm39)	H819Q	probably damaging	Het
Adamts7	T	A	9: 90,075,359 (GRCm39)	N1072K	probably benign	Het
Ahnak	T	A	19: 8,980,865 (GRCm39)	Y716*	probably null	Het
Arfgef3	T	C	10: 18,470,660 (GRCm39)	K1702E	possibly damaging	Het
BB014433	C	A	8: 15,092,499 (GRCm39)		probably null	Het
Bdnf	A	T	2: 109,554,273 (GRCm39)	K176*	probably null	Het
C2cd5	C	T	6: 142,963,748 (GRCm39)	R879H	probably damaging	Het
Capn11	T	A	17: 45,950,360 (GRCm39)	H327L	probably benign	Het
Ccdc68	A	G	18: 70,089,117 (GRCm39)	N220S	probably benign	Het
Cftr	T	C	6: 18,198,238 (GRCm39)		probably benign	Het
Clca3a2	G	A	3: 144,793,768 (GRCm39)	L296F	probably damaging	Het
Cubn	A	T	2: 13,330,027 (GRCm39)	L2618Q	probably benign	Het
Gfi1b	A	G	2: 28,501,429 (GRCm39)		probably null	Het
Gpr37	G	T	6: 25,669,572 (GRCm39)	T424N	probably damaging	Het
Kank3	G	A	17: 34,038,154 (GRCm39)		probably null	Het
Kcnh5	T	C	12: 74,945,101 (GRCm39)	Q716R	probably benign	Het
Kntc1	G	A	5: 123,941,758 (GRCm39)	M1817I	probably benign	Het
Krt79	T	G	15: 101,840,206 (GRCm39)	E330A	probably damaging	Het
Mapk15	C	A	15: 75,867,129 (GRCm39)	P82Q	probably benign	Het
Myh15	A	T	16: 48,993,312 (GRCm39)	D1649V	probably damaging	Het
Myo1d	T	C	11: 80,566,936 (GRCm39)	I326V	probably benign	Het
Nek9	A	T	12: 85,361,194 (GRCm39)	W504R	probably damaging	Het
Nup160	A	G	2: 90,560,081 (GRCm39)	N1269D	probably damaging	Het
Or52e3	A	G	7: 102,869,558 (GRCm39)	D211G	probably damaging	Het
Or56b2	T	C	7: 104,337,285 (GRCm39)	M21T	possibly damaging	Het
Or8c10	T	C	9: 38,279,346 (GRCm39)	V168A	probably benign	Het
Pde6a	A	G	18: 61,414,599 (GRCm39)	M36V	probably damaging	Het
Perp	A	G	10: 18,731,407 (GRCm39)	Q122R	probably damaging	Het
S100a7a	T	C	3: 90,565,107 (GRCm39)	Y101H	probably benign	Het
Sbk2	C	A	7: 4,960,712 (GRCm39)	V153L	possibly damaging	Het
Serpinb7	A	T	1: 107,356,052 (GRCm39)	N25I	probably damaging	Het
Tbx5	A	T	5: 119,978,903 (GRCm39)	D105V	probably damaging	Het
Trip6	T	A	5: 137,311,675 (GRCm39)	T101S	probably benign	Het
Ush2a	T	A	1: 188,386,921 (GRCm39)		probably null	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
IGL01531:Nlrp4c	APN	7	6,063,655 (GRCm39)	missense	probably damaging	1.00
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

2013-12-09