Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02481:Nlrp4f'

295190

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 #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

65177111-65205977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65194734 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 366 (T366S)

Ref Sequence

ENSEMBL: ENSMUSP00000152151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037372] [ENSMUST00000220448] [ENSMUST00000221659] [ENSMUST00000222273] [ENSMUST00000222514] [ENSMUST00000222559] [ENSMUST00000223418]

Predicted Effect

probably benign
Transcript: ENSMUST00000037372
AA Change: T366S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: T366S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221659
AA Change: T366S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000222273

Predicted Effect

probably benign
Transcript: ENSMUST00000222514
AA Change: T366S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000222559

Predicted Effect

probably benign
Transcript: ENSMUST00000223418

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,363,794	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,574,646	V117I	probably benign	Het
Cdkl2	A	T	5: 92,037,271	I87N	probably damaging	Het
Cfap57	T	A	4: 118,581,105	E863V	probably damaging	Het
Clca2	G	A	3: 145,084,940	S457L	possibly damaging	Het
Crim1	C	T	17: 78,350,798	T702I	probably damaging	Het
Cysltr1	C	A	X: 106,578,122	V253L	probably damaging	Het
Dgcr6	G	A	16: 18,065,174	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,319,080		probably null	Het
Dnm3	A	G	1: 162,010,902	S826P	probably damaging	Het
Dspp	A	G	5: 104,175,648	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,975,551		probably benign	Het
Erc2	T	A	14: 27,653,071	L82Q	probably damaging	Het
Ercc6l	T	C	X: 102,144,669	T745A	probably benign	Het
Gata4	T	C	14: 63,200,461	T414A	probably benign	Het
Gmps	A	G	3: 64,014,352	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868	Y873H	probably damaging	Het
Gsr	T	C	8: 33,685,541		probably benign	Het
Gtf2h1	T	C	7: 46,804,993	L133P	probably damaging	Het
Ifna5	A	C	4: 88,836,090	E189A	probably benign	Het
Irx5	A	G	8: 92,360,679	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,622,383	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,354,561		probably benign	Het
Kif19a	A	G	11: 114,789,153	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Krt78	C	A	15: 101,948,418		probably benign	Het
Lca5	A	T	9: 83,423,117	I212N	probably damaging	Het
Lgr6	T	C	1: 135,001,691		probably benign	Het
Madd	T	G	2: 91,178,036	T174P	probably damaging	Het
Mcm9	A	G	10: 53,625,937	I184T	probably damaging	Het
Mlycd	G	A	8: 119,410,334	R431H	probably damaging	Het
Myh10	G	A	11: 68,802,168	A1393T	probably benign	Het
Myof	G	T	19: 37,937,913	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,625,995	Q2578*	probably null	Het
Nnat	T	C	2: 157,561,247	F36S	possibly damaging	Het
Nsd3	C	A	8: 25,691,116	P915T	probably damaging	Het
Olfr117	A	G	17: 37,659,472	L287P	probably damaging	Het
Olfr1335	C	T	4: 118,809,499	V122M	probably benign	Het
Olfr351	A	T	2: 36,859,818	C177S	probably damaging	Het
Olfr370	A	C	8: 83,541,386	M81L	possibly damaging	Het
Olfr723	G	A	14: 49,928,707	T279I	probably damaging	Het
Pkd1l3	A	G	8: 109,614,782	N89S	unknown	Het
Pkd2	T	C	5: 104,486,770	F556L	probably damaging	Het
Psen2	T	A	1: 180,235,061	M239L	probably damaging	Het
Rad50	A	G	11: 53,680,049	I794T	probably benign	Het
Ralgps1	G	A	2: 33,340,729	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,915,907	P250S	probably damaging	Het
Slc47a2	A	G	11: 61,336,241	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,283,993	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,414,154	E308D	probably benign	Het
Wdr61	T	C	9: 54,728,261	I19V	probably damaging	Het
Zfhx4	G	A	3: 5,411,843	E3148K	probably 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
IGL01799:Nlrp4f	APN	13	65187462	missense	probably benign	0.03
IGL02084:Nlrp4f	APN	13	65194171	nonsense	probably null
IGL02234:Nlrp4f	APN	13	65194488	missense	probably damaging	1.00
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

2015-04-16