Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01799:Nlrp4f'

155448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4f

Ensembl Gene

ENSMUSG00000032999

Gene Name

NLR family, pyrin domain containing 4F

Synonyms

Nalp4f, C330026N02Rik, Nalp-kappa

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01799

Quality Score

Status

Chromosome

Chromosomal Location

65324925-65353530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65335276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 771 (H771R)

Ref Sequence

ENSEMBL: ENSMUSP00000152151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037372] [ENSMUST00000220448] [ENSMUST00000221659] [ENSMUST00000222514]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037372
AA Change: H771R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: H771R

Domain	Start	End	E-Value	Type
PYRIN	6	88	1.44e-26	SMART
Pfam:NACHT	147	316	3.4e-39	PFAM
LRR	632	659	1.18e1	SMART
LRR	686	713	4.22e1	SMART
LRR	715	742	5.66e1	SMART
LRR	743	769	4.03e0	SMART
LRR	771	798	1.17e0	SMART
LRR	799	826	1.43e-1	SMART
LRR	828	855	1.03e-2	SMART
LRR	856	883	5.59e-4	SMART
LRR	885	912	2.91e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220448
AA Change: H63R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000221659
AA Change: H771R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000222514
AA Change: H771R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,564,257 (GRCm39)		probably null	Het
Anp32a	A	G	9: 62,279,092 (GRCm39)	T35A	probably benign	Het
Dennd1a	A	G	2: 37,938,754 (GRCm39)	Y119H	probably damaging	Het
Evc	T	C	5: 37,482,258 (GRCm39)	I32V	possibly damaging	Het
Fbll1	A	C	11: 35,688,936 (GRCm39)	V109G	possibly damaging	Het
Gli3	T	C	13: 15,900,746 (GRCm39)	S1378P	probably benign	Het
Hcfc2	G	A	10: 82,536,825 (GRCm39)	C79Y	probably damaging	Het
Hdac5	A	T	11: 102,090,911 (GRCm39)	I741N	possibly damaging	Het
Heatr5a	T	C	12: 51,944,618 (GRCm39)	D1289G	probably benign	Het
Hyal5	T	A	6: 24,891,336 (GRCm39)	N383K	probably benign	Het
Itsn1	T	C	16: 91,645,770 (GRCm39)	L59P	probably damaging	Het
Lrrc8b	T	A	5: 105,633,757 (GRCm39)	L743Q	probably benign	Het
Micos10	G	T	4: 138,831,308 (GRCm39)		probably benign	Het
Mks1	A	T	11: 87,747,689 (GRCm39)	I191F	probably benign	Het
Mrc1	T	A	2: 14,243,187 (GRCm39)	N104K	probably damaging	Het
Ms4a6d	A	T	19: 11,567,499 (GRCm39)	I26N	probably damaging	Het
Mup17	T	C	4: 61,511,948 (GRCm39)	T109A	probably benign	Het
Mylk4	T	G	13: 32,965,674 (GRCm39)	E9A	probably benign	Het
Myo7b	C	T	18: 32,095,823 (GRCm39)	V1812M	probably damaging	Het
Nbas	T	C	12: 13,374,401 (GRCm39)		probably benign	Het
Ncoa2	T	C	1: 13,222,599 (GRCm39)		probably benign	Het
Opa1	T	C	16: 29,435,476 (GRCm39)	V642A	possibly damaging	Het
Or9g3	T	A	2: 85,589,986 (GRCm39)	I245F	probably benign	Het
Pate12	T	C	9: 36,344,179 (GRCm39)	L54P	possibly damaging	Het
Pi4ka	C	A	16: 17,207,235 (GRCm39)	L23F	probably damaging	Het
Rerg	T	A	6: 137,033,376 (GRCm39)	K100*	probably null	Het
Sema6c	T	C	3: 95,078,142 (GRCm39)	V506A	probably damaging	Het
Slc15a1	T	G	14: 121,718,141 (GRCm39)	N246T	possibly damaging	Het
Sorcs1	A	G	19: 50,218,647 (GRCm39)		probably null	Het
Vmn2r118	A	G	17: 55,899,990 (GRCm39)	L638P	probably damaging	Het
Vmn2r80	G	A	10: 79,007,385 (GRCm39)	G454S	possibly damaging	Het

Other mutations in Nlrp4f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Nlrp4f	APN	13	65,343,357 (GRCm39)	nonsense	probably null
IGL01676:Nlrp4f	APN	13	65,342,933 (GRCm39)	missense	possibly damaging	0.95
IGL01701:Nlrp4f	APN	13	65,347,223 (GRCm39)	missense	probably damaging	1.00
IGL02084:Nlrp4f	APN	13	65,341,985 (GRCm39)	nonsense	probably null
IGL02234:Nlrp4f	APN	13	65,342,302 (GRCm39)	missense	probably damaging	1.00
IGL02481:Nlrp4f	APN	13	65,342,548 (GRCm39)	missense	probably benign	0.04
IGL02483:Nlrp4f	APN	13	65,342,548 (GRCm39)	missense	probably benign	0.04
IGL02625:Nlrp4f	APN	13	65,347,085 (GRCm39)	missense	probably damaging	1.00
IGL02814:Nlrp4f	APN	13	65,332,856 (GRCm39)	missense	probably damaging	0.98
IGL03077:Nlrp4f	APN	13	65,342,412 (GRCm39)	missense	probably benign	0.10
IGL03111:Nlrp4f	APN	13	65,330,816 (GRCm39)	missense	probably damaging	1.00
IGL03175:Nlrp4f	APN	13	65,342,410 (GRCm39)	missense	probably damaging	1.00
IGL03324:Nlrp4f	APN	13	65,343,042 (GRCm39)	missense	possibly damaging	0.91
R0398:Nlrp4f	UTSW	13	65,342,732 (GRCm39)	missense	possibly damaging	0.79
R0477:Nlrp4f	UTSW	13	65,338,720 (GRCm39)	missense	probably benign	0.01
R0707:Nlrp4f	UTSW	13	65,342,317 (GRCm39)	missense	probably benign	0.42
R1052:Nlrp4f	UTSW	13	65,332,897 (GRCm39)	missense	possibly damaging	0.73
R1302:Nlrp4f	UTSW	13	65,342,371 (GRCm39)	missense	possibly damaging	0.77
R1460:Nlrp4f	UTSW	13	65,338,082 (GRCm39)	missense	probably benign	0.23
R1970:Nlrp4f	UTSW	13	65,341,905 (GRCm39)	missense	probably damaging	1.00
R2111:Nlrp4f	UTSW	13	65,347,167 (GRCm39)	missense	probably benign	0.11
R2272:Nlrp4f	UTSW	13	65,342,222 (GRCm39)	missense	probably benign	0.01
R2370:Nlrp4f	UTSW	13	65,338,660 (GRCm39)	missense	probably damaging	0.99
R2680:Nlrp4f	UTSW	13	65,342,157 (GRCm39)	nonsense	probably null
R3120:Nlrp4f	UTSW	13	65,342,530 (GRCm39)	missense	probably benign	0.13
R3737:Nlrp4f	UTSW	13	65,341,821 (GRCm39)	missense	probably benign	0.01
R4035:Nlrp4f	UTSW	13	65,341,821 (GRCm39)	missense	probably benign	0.01
R4107:Nlrp4f	UTSW	13	65,330,879 (GRCm39)	missense	probably benign	0.01
R4422:Nlrp4f	UTSW	13	65,332,776 (GRCm39)	critical splice donor site	probably null
R4718:Nlrp4f	UTSW	13	65,342,803 (GRCm39)	missense	probably benign	0.01
R5652:Nlrp4f	UTSW	13	65,330,803 (GRCm39)	missense	probably benign	0.00
R5656:Nlrp4f	UTSW	13	65,338,685 (GRCm39)	nonsense	probably null
R5912:Nlrp4f	UTSW	13	65,342,722 (GRCm39)	missense	probably damaging	0.99
R5915:Nlrp4f	UTSW	13	65,335,369 (GRCm39)	missense	probably damaging	1.00
R5955:Nlrp4f	UTSW	13	65,342,895 (GRCm39)	missense	probably benign	0.15
R6683:Nlrp4f	UTSW	13	65,347,009 (GRCm39)	missense	probably benign	0.01
R6742:Nlrp4f	UTSW	13	65,335,254 (GRCm39)	critical splice donor site	probably null
R6750:Nlrp4f	UTSW	13	65,329,468 (GRCm39)	nonsense	probably null
R6751:Nlrp4f	UTSW	13	65,342,243 (GRCm39)	missense	probably damaging	0.99
R7110:Nlrp4f	UTSW	13	65,347,160 (GRCm39)	missense	probably damaging	0.96
R7143:Nlrp4f	UTSW	13	65,347,166 (GRCm39)	missense	possibly damaging	0.90
R7143:Nlrp4f	UTSW	13	65,343,120 (GRCm39)	missense	probably damaging	1.00
R7187:Nlrp4f	UTSW	13	65,343,201 (GRCm39)	missense	possibly damaging	0.47
R7230:Nlrp4f	UTSW	13	65,342,715 (GRCm39)	missense	probably benign	0.16
R7283:Nlrp4f	UTSW	13	65,343,352 (GRCm39)	nonsense	probably null
R7501:Nlrp4f	UTSW	13	65,342,143 (GRCm39)	missense	probably damaging	0.99
R7863:Nlrp4f	UTSW	13	65,342,059 (GRCm39)	missense	possibly damaging	0.63
R7889:Nlrp4f	UTSW	13	65,342,832 (GRCm39)	missense	probably damaging	1.00
R8472:Nlrp4f	UTSW	13	65,342,145 (GRCm39)	missense	possibly damaging	0.87
R8553:Nlrp4f	UTSW	13	65,343,252 (GRCm39)	missense	possibly damaging	0.66
R8972:Nlrp4f	UTSW	13	65,330,749 (GRCm39)	missense	probably benign	0.13
R9133:Nlrp4f	UTSW	13	65,332,883 (GRCm39)	nonsense	probably null
R9224:Nlrp4f	UTSW	13	65,332,829 (GRCm39)	nonsense	probably null
R9460:Nlrp4f	UTSW	13	65,342,006 (GRCm39)	missense	possibly damaging	0.79
R9562:Nlrp4f	UTSW	13	65,347,053 (GRCm39)	missense	probably damaging	0.99
Z1088:Nlrp4f	UTSW	13	65,342,116 (GRCm39)	missense	probably benign	0.00
Z1177:Nlrp4f	UTSW	13	65,342,475 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04