Mutagenetix > Incidental Mutations

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

Nalp-kappa, Nalp4f, C330026N02Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01799

Quality Score

Status

Chromosome

Chromosomal Location

65177111-65205977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65187462 bp

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]

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: 4,514,258		probably null	Het
Anp32a	A	G	9: 62,371,810	T35A	probably benign	Het
Dennd1a	A	G	2: 38,048,742	Y119H	probably damaging	Het
Evc	T	C	5: 37,324,914	I32V	possibly damaging	Het
Fbll1	A	C	11: 35,798,109	V109G	possibly damaging	Het
Gli3	T	C	13: 15,726,161	S1378P	probably benign	Het
Gm7257	T	C	9: 36,432,883	L54P	possibly damaging	Het
Hcfc2	G	A	10: 82,700,991	C79Y	probably damaging	Het
Hdac5	A	T	11: 102,200,085	I741N	possibly damaging	Het
Heatr5a	T	C	12: 51,897,835	D1289G	probably benign	Het
Hyal5	T	A	6: 24,891,337	N383K	probably benign	Het
Itsn1	T	C	16: 91,848,882	L59P	probably damaging	Het
Lrrc8b	T	A	5: 105,485,891	L743Q	probably benign	Het
Minos1	G	T	4: 139,103,997		probably benign	Het
Mks1	A	T	11: 87,856,863	I191F	probably benign	Het
Mrc1	T	A	2: 14,238,376	N104K	probably damaging	Het
Ms4a6d	A	T	19: 11,590,135	I26N	probably damaging	Het
Mup17	T	C	4: 61,593,711	T109A	probably benign	Het
Mylk4	T	G	13: 32,781,691	E9A	probably benign	Het
Myo7b	C	T	18: 31,962,770	V1812M	probably damaging	Het
Nbas	T	C	12: 13,324,400		probably benign	Het
Ncoa2	T	C	1: 13,152,375		probably benign	Het
Olfr1012	T	A	2: 85,759,642	I245F	probably benign	Het
Opa1	T	C	16: 29,616,658	V642A	possibly damaging	Het
Pi4ka	C	A	16: 17,389,371	L23F	probably damaging	Het
Rerg	T	A	6: 137,056,378	K100*	probably null	Het
Sema6c	T	C	3: 95,170,831	V506A	probably damaging	Het
Slc15a1	T	G	14: 121,480,729	N246T	possibly damaging	Het
Sorcs1	A	G	19: 50,230,209		probably null	Het
Vmn2r118	A	G	17: 55,592,990	L638P	probably damaging	Het
Vmn2r80	G	A	10: 79,171,551	G454S	possibly damaging	Het

Other mutations in Nlrp4f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Nlrp4f	APN	13	65195543	nonsense	probably null
IGL01676:Nlrp4f	APN	13	65195119	missense	possibly damaging	0.95
IGL01701:Nlrp4f	APN	13	65199409	missense	probably damaging	1.00
IGL02084:Nlrp4f	APN	13	65194171	nonsense	probably null
IGL02234:Nlrp4f	APN	13	65194488	missense	probably damaging	1.00
IGL02481:Nlrp4f	APN	13	65194734	missense	probably benign	0.04
IGL02483:Nlrp4f	APN	13	65194734	missense	probably benign	0.04
IGL02625:Nlrp4f	APN	13	65199271	missense	probably damaging	1.00
IGL02814:Nlrp4f	APN	13	65185042	missense	probably damaging	0.98
IGL03077:Nlrp4f	APN	13	65194598	missense	probably benign	0.10
IGL03111:Nlrp4f	APN	13	65183002	missense	probably damaging	1.00
IGL03175:Nlrp4f	APN	13	65194596	missense	probably damaging	1.00
IGL03324:Nlrp4f	APN	13	65195228	missense	possibly damaging	0.91
R0398:Nlrp4f	UTSW	13	65194918	missense	possibly damaging	0.79
R0477:Nlrp4f	UTSW	13	65190906	missense	probably benign	0.01
R0707:Nlrp4f	UTSW	13	65194503	missense	probably benign	0.42
R1052:Nlrp4f	UTSW	13	65185083	missense	possibly damaging	0.73
R1302:Nlrp4f	UTSW	13	65194557	missense	possibly damaging	0.77
R1460:Nlrp4f	UTSW	13	65190268	missense	probably benign	0.23
R1970:Nlrp4f	UTSW	13	65194091	missense	probably damaging	1.00
R2111:Nlrp4f	UTSW	13	65199353	missense	probably benign	0.11
R2272:Nlrp4f	UTSW	13	65194408	missense	probably benign	0.01
R2370:Nlrp4f	UTSW	13	65190846	missense	probably damaging	0.99
R2680:Nlrp4f	UTSW	13	65194343	nonsense	probably null
R3120:Nlrp4f	UTSW	13	65194716	missense	probably benign	0.13
R3737:Nlrp4f	UTSW	13	65194007	missense	probably benign	0.01
R4035:Nlrp4f	UTSW	13	65194007	missense	probably benign	0.01
R4107:Nlrp4f	UTSW	13	65183065	missense	probably benign	0.01
R4422:Nlrp4f	UTSW	13	65184962	critical splice donor site	probably null
R4718:Nlrp4f	UTSW	13	65194989	missense	probably benign	0.01
R5652:Nlrp4f	UTSW	13	65182989	missense	probably benign	0.00
R5656:Nlrp4f	UTSW	13	65190871	nonsense	probably null
R5912:Nlrp4f	UTSW	13	65194908	missense	probably damaging	0.99
R5915:Nlrp4f	UTSW	13	65187555	missense	probably damaging	1.00
R5955:Nlrp4f	UTSW	13	65195081	missense	probably benign	0.15
R6683:Nlrp4f	UTSW	13	65199195	missense	probably benign	0.01
R6742:Nlrp4f	UTSW	13	65187440	critical splice donor site	probably null
R6750:Nlrp4f	UTSW	13	65181654	nonsense	probably null
R6751:Nlrp4f	UTSW	13	65194429	missense	probably damaging	0.99
R7110:Nlrp4f	UTSW	13	65199346	missense	probably damaging	0.96
R7143:Nlrp4f	UTSW	13	65195306	missense	probably damaging	1.00
R7143:Nlrp4f	UTSW	13	65199352	missense	possibly damaging	0.90
R7187:Nlrp4f	UTSW	13	65195387	missense	possibly damaging	0.47
R7230:Nlrp4f	UTSW	13	65194901	missense	probably benign	0.16
R7283:Nlrp4f	UTSW	13	65195538	nonsense	probably null
R7501:Nlrp4f	UTSW	13	65194329	missense	probably damaging	0.99
Z1088:Nlrp4f	UTSW	13	65194302	missense	probably benign	0.00

Posted On

2014-02-04