Mutagenetix > Incidental Mutations

Incidental Mutation 'R2272:Nlrp4f'

242590

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4f

Ensembl Gene

ENSMUSG00000032999

Gene Name

NLR family, pyrin domain containing 4F

Synonyms

Nalp-kappa, Nalp4f, C330026N02Rik

MMRRC Submission

040272-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65177111-65205977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65194408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 474 (D474E)

Ref Sequence

ENSEMBL: ENSMUSP00000152418 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037372
AA Change: D474E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: D474E

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: D474E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000222273

Predicted Effect

probably benign
Transcript: ENSMUST00000222514
AA Change: D474E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000222559

Predicted Effect

probably benign
Transcript: ENSMUST00000223418

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297	E160V	probably damaging	Het
Ago1	C	A	4: 126,453,650	M435I	probably benign	Het
Apol7b	G	A	15: 77,423,710	A195V	probably damaging	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Arntl2	T	C	6: 146,822,114	F314S	probably damaging	Het
Atg2b	C	T	12: 105,638,008	V1545I	probably benign	Het
Atp4a	C	A	7: 30,715,500	S238*	probably null	Het
Birc6	T	C	17: 74,602,971	V1453A	probably benign	Het
Brinp3	A	G	1: 146,901,404	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Cdh22	A	T	2: 165,143,847		probably null	Het
Cdk5rap2	A	C	4: 70,266,678	S1178R	probably benign	Het
Cdkl3	T	C	11: 52,032,495	V45A	probably benign	Het
Cracr2a	T	A	6: 127,607,298	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Ddc	T	C	11: 11,835,764	N308D	probably damaging	Het
Dnah10	A	G	5: 124,731,466	N195S	probably benign	Het
Dnah9	T	C	11: 66,112,362	D872G	probably benign	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fmo1	A	T	1: 162,833,855	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047	I310N	possibly damaging	Het
Gm13088	G	A	4: 143,654,142	T437I	probably damaging	Het
Hydin	A	T	8: 110,309,132	I152L	probably benign	Het
Itpr1	T	A	6: 108,493,755	C2214S	probably damaging	Het
Kcnq3	T	A	15: 66,028,680	D242V	probably damaging	Het
Klhl1	T	C	14: 96,517,908	D137G	probably benign	Het
Lama5	T	C	2: 180,178,603	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,316,762	L254S	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Matn4	A	T	2: 164,397,242	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Muc6	T	A	7: 141,637,510	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,144,338	H3612R	probably null	Het
Myo5b	G	T	18: 74,733,925	L1382F	probably damaging	Het
Myo7b	C	T	18: 31,977,043	S1122N	probably benign	Het
Myo9a	T	A	9: 59,815,301	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Neil1	A	G	9: 57,146,785	S84P	probably damaging	Het
Nfix	A	G	8: 84,727,175	I256T	probably damaging	Het
Olfr203	T	G	16: 59,303,444	M98R	possibly damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
Pcnx	T	C	12: 81,995,314	V2240A	probably benign	Het
Per3	T	A	4: 151,018,885	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524	L66I	probably damaging	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prpf8	T	A	11: 75,495,363	V946E	probably damaging	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Prss54	C	T	8: 95,571,107	W45*	probably null	Het
Psg29	A	T	7: 17,210,696	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,283,542		probably null	Het
Serpinb9c	C	T	13: 33,154,541	G125E	probably damaging	Het
Skint4	A	G	4: 112,119,868	T152A	probably benign	Het
Slc26a2	A	G	18: 61,198,578	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,328,526		probably null	Het
Ttc39d	A	G	17: 80,217,246	K445E	probably damaging	Het
Ttn	T	A	2: 76,764,520	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,066,255	V510A	possibly damaging	Het
Usf1	T	C	1: 171,418,060	L291P	possibly damaging	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,660,191	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,774,347	Q163L	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
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
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
R7863:Nlrp4f	UTSW	13	65194245	missense	possibly damaging	0.63
R7889:Nlrp4f	UTSW	13	65195018	missense	probably damaging	1.00
R8472:Nlrp4f	UTSW	13	65194331	missense	possibly damaging	0.87
R8553:Nlrp4f	UTSW	13	65195438	missense	possibly damaging	0.66
R8972:Nlrp4f	UTSW	13	65182935	missense	probably benign	0.13
R9133:Nlrp4f	UTSW	13	65185069	nonsense	probably null
R9224:Nlrp4f	UTSW	13	65185015	nonsense	probably null
Z1088:Nlrp4f	UTSW	13	65194302	missense	probably benign	0.00
Z1177:Nlrp4f	UTSW	13	65194661	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGCCGTCTATTTGTTCTTGAAG -3'
(R):5'- TTTGGCAAGGAGGCTCTCAG -3'

Sequencing Primer
(F):5'- GAAGCTCTGCATTGCCACTTAAGG -3'
(R):5'- CTCTCAGGAGAAATGGGATCTTTGAC -3'

Posted On

2014-10-16