Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Nlrp4f'

360699

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

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

65177111-65205977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65185042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 809 (S809P)

Ref Sequence

ENSEMBL: ENSMUSP00000152151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037372] [ENSMUST00000220448] [ENSMUST00000221280] [ENSMUST00000221659] [ENSMUST00000222514]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037372
AA Change: S809P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: S809P

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 damaging
Transcript: ENSMUST00000220448
AA Change: S101P

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000221280

Predicted Effect

probably damaging
Transcript: ENSMUST00000221659
AA Change: S809P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000222514

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,422	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Cgn	G	A	3: 94,774,240	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857	C846*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	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
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
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
R9460:Nlrp4f	UTSW	13	65194192	missense	possibly damaging	0.79
R9562:Nlrp4f	UTSW	13	65199239	missense	probably damaging	0.99
Z1088:Nlrp4f	UTSW	13	65194302	missense	probably benign	0.00
Z1177:Nlrp4f	UTSW	13	65194661	missense	probably damaging	1.00

Posted On

2015-12-18