Mutagenetix > Incidental Mutation

Incidental Mutation 'R7792:Nlrp4e'

599938

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4e

Ensembl Gene

ENSMUSG00000045693

Gene Name

NLR family, pyrin domain containing 4E

Synonyms

4930406H16Rik, Nalp4e, Nalp-epsilon

MMRRC Submission

045848-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23321757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 556 (F556L)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076470]

AlphaFold

Q66X19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076470
AA Change: F556L

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: F556L

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.43e-35	SMART
Pfam:NACHT	148	317	1.3e-39	PFAM
LRR	689	716	1.87e1	SMART
LRR	718	745	7.74e0	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	2.67e1	SMART
LRR	802	829	6.48e-1	SMART
LRR	831	858	2.03e0	SMART
LRR	859	886	2.88e-6	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	1.02e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (97/97)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	A	18: 12,181,599 (GRCm38)	D289N	probably damaging	Het
Aars	G	T	8: 111,043,264 (GRCm38)	V332F	possibly damaging	Het
Abhd15	T	A	11: 77,518,734 (GRCm38)	S425T	probably benign	Het
Acads	A	T	5: 115,112,781 (GRCm38)	F152L	probably damaging	Het
Acpp	T	A	9: 104,326,966 (GRCm38)	H43L	probably damaging	Het
Adora2a	A	G	10: 75,333,646 (GRCm38)	S315G	probably benign	Het
Agxt2	A	T	15: 10,381,386 (GRCm38)	D242V	probably damaging	Het
Alx4	A	G	2: 93,642,711 (GRCm38)	D18G	probably damaging	Het
Ankrd11	A	G	8: 122,884,231 (GRCm38)	S2639P	probably damaging	Het
Arhgap35	A	T	7: 16,561,528 (GRCm38)	V1204D	possibly damaging	Het
Arid2	A	G	15: 96,369,375 (GRCm38)	T579A	probably benign	Het
B4galt1	C	T	4: 40,809,373 (GRCm38)	G332S	probably benign	Het
B4galt4	C	A	16: 38,757,810 (GRCm38)	Y206*	probably null	Het
Bcl2l14	A	T	6: 134,432,314 (GRCm38)	T284S	possibly damaging	Het
Bop1	C	T	15: 76,454,348 (GRCm38)	V465M	probably damaging	Het
Cacna1b	A	T	2: 24,677,965 (GRCm38)	L1037H	probably damaging	Het
Cadm2	G	A	16: 66,771,637 (GRCm38)	T254M	probably benign	Het
Ccdc180	T	C	4: 45,890,389 (GRCm38)		probably null	Het
Ccdc7a	A	T	8: 128,892,437 (GRCm38)	D875E	possibly damaging	Het
Cenpu	A	G	8: 46,562,467 (GRCm38)	D139G	possibly damaging	Het
Cep57l1	A	T	10: 41,722,940 (GRCm38)	C292*	probably null	Het
Cep89	G	A	7: 35,429,928 (GRCm38)	R630H	probably damaging	Het
Chst14	A	G	2: 118,927,775 (GRCm38)	H350R	probably benign	Het
Clca3a1	T	A	3: 144,749,731 (GRCm38)	I434F	possibly damaging	Het
Crispld2	A	G	8: 120,031,070 (GRCm38)	T385A	probably benign	Het
Crmp1	A	C	5: 37,284,095 (GRCm38)	N507T	probably damaging	Het
Cyp4f40	T	A	17: 32,671,169 (GRCm38)	I271N	probably damaging	Het
D630003M21Rik	G	T	2: 158,210,162 (GRCm38)	Q670K	possibly damaging	Het
Ddx42	T	C	11: 106,236,996 (GRCm38)	I342T	probably damaging	Het
Dnah9	T	A	11: 65,850,013 (GRCm38)	I4116F	probably damaging	Het
Ehd2	T	C	7: 15,950,758 (GRCm38)	H372R	probably benign	Het
Gja8	C	A	3: 96,919,776 (GRCm38)	C190F	probably damaging	Het
Gm13088	A	G	4: 143,654,553 (GRCm38)	L300P	probably benign	Het
Gm8297	A	T	14: 4,984,945 (GRCm38)	D72V	possibly damaging	Het
Golgb1	A	G	16: 36,918,730 (GRCm38)	D2518G	probably benign	Het
Hsd17b12	C	A	2: 94,033,641 (GRCm38)	M285I	probably benign	Het
Hus1	T	C	11: 9,000,133 (GRCm38)	E196G	probably damaging	Het
Irf2	G	A	8: 46,807,279 (GRCm38)	R82Q	probably damaging	Het
Irx2	A	G	13: 72,631,374 (GRCm38)	D259G	possibly damaging	Het
Jph1	T	A	1: 17,004,378 (GRCm38)	Q472L	probably benign	Het
Kif2a	T	C	13: 106,987,982 (GRCm38)	Q142R	probably benign	Het
Lonp1	T	C	17: 56,622,515 (GRCm38)	Y174C	probably damaging	Het
Mapk14	T	C	17: 28,746,297 (GRCm38)	F348L	probably damaging	Het
March10	G	T	11: 105,390,228 (GRCm38)	D410E	probably benign	Het
Mff	A	T	1: 82,747,081 (GRCm38)		probably null	Het
Necab3	G	A	2: 154,546,280 (GRCm38)	R271C	probably damaging	Het
Nt5c2	T	C	19: 46,889,946 (GRCm38)	K425E	probably benign	Het
Ofcc1	A	T	13: 40,142,826 (GRCm38)	W511R	probably damaging	Het
Olfr1283	T	C	2: 111,369,403 (GRCm38)	I257T	probably benign	Het
Olfr347	A	C	2: 36,734,330 (GRCm38)	E3A	probably benign	Het
Olfr551	T	A	7: 102,588,883 (GRCm38)		probably benign	Het
Olfr56	T	A	11: 49,134,669 (GRCm38)	I159N	possibly damaging	Het
P2rx2	G	C	5: 110,340,344 (GRCm38)	A448G	possibly damaging	Het
Papd5	A	T	8: 88,252,554 (GRCm38)	Q561L	probably benign	Het
Pcnx2	A	T	8: 125,892,018 (GRCm38)	N56K	possibly damaging	Het
Pdzd7	A	C	19: 45,040,218 (GRCm38)	M162R	possibly damaging	Het
Phyhd1	A	G	2: 30,266,770 (GRCm38)	M1V	probably null	Het
Pla2g16	T	C	19: 7,579,295 (GRCm38)	C154R	probably benign	Het
Plekha5	A	G	6: 140,589,224 (GRCm38)	E1126G	possibly damaging	Het
Plekhm1	A	T	11: 103,397,060 (GRCm38)	V87D	probably damaging	Het
Pole	G	A	5: 110,297,466 (GRCm38)		probably null	Het
R3hcc1	T	C	14: 69,705,508 (GRCm38)	M207V	probably benign	Het
R3hcc1l	T	A	19: 42,563,964 (GRCm38)	S467T	probably damaging	Het
Rasgrp4	G	T	7: 29,143,102 (GRCm38)	R267L	probably damaging	Het
Rbm20	T	C	19: 53,850,136 (GRCm38)	I848T	probably benign	Het
Rims2	T	C	15: 39,198,528 (GRCm38)	S56P	possibly damaging	Het
Sacs	T	A	14: 61,209,773 (GRCm38)	D3089E	probably benign	Het
Sall2	C	T	14: 52,316,064 (GRCm38)	G16R	probably damaging	Het
Scgb1b19	G	A	7: 33,288,487 (GRCm38)	C93Y	probably damaging	Het
Scn3a	T	A	2: 65,466,990 (GRCm38)	K1442*	probably null	Het
Sepsecs	A	G	5: 52,644,049 (GRCm38)	S424P	probably damaging	Het
Set	G	T	2: 30,070,311 (GRCm38)	V219F	probably benign	Het
Sh3tc1	A	T	5: 35,710,951 (GRCm38)	F390I	probably damaging	Het
Simc1	G	A	13: 54,547,330 (GRCm38)	V1269M	probably damaging	Het
Ska3	T	G	14: 57,810,055 (GRCm38)	D341A	probably damaging	Het
Skiv2l2	A	T	13: 112,872,909 (GRCm38)	D985E	probably benign	Het
Slc16a10	A	T	10: 40,037,415 (GRCm38)		probably null	Het
Srgap1	T	A	10: 121,925,967 (GRCm38)	N92I	probably damaging	Het
Sspo	T	C	6: 48,454,690 (GRCm38)	V639A	probably damaging	Het
Stk11	A	T	10: 80,125,437 (GRCm38)		probably benign	Het
Sult5a1	G	A	8: 123,145,441 (GRCm38)	H221Y	probably benign	Het
Sytl3	T	A	17: 6,736,578 (GRCm38)	M559K	probably benign	Het
Tab2	A	C	10: 7,919,133 (GRCm38)	D528E	possibly damaging	Het
Tbc1d15	A	G	10: 115,221,587 (GRCm38)	I218T	possibly damaging	Het
Tenm4	T	A	7: 96,774,014 (GRCm38)	M672K	possibly damaging	Het
Tfrc	A	G	16: 32,619,167 (GRCm38)	K346R	probably benign	Het
Thsd1	G	T	8: 22,243,098 (GRCm38)	G54W	probably damaging	Het
Tmprss15	A	T	16: 79,003,387 (GRCm38)	L618I	probably damaging	Het
Top3a	T	C	11: 60,742,964 (GRCm38)	S769G	probably benign	Het
Trp63	C	A	16: 25,868,224 (GRCm38)	P396Q	possibly damaging	Het
Ttc30a2	T	C	2: 75,976,929 (GRCm38)	N413S	probably benign	Het
Uggt1	T	C	1: 36,207,984 (GRCm38)	S311G	probably damaging	Het
Usp10	G	A	8: 119,952,001 (GRCm38)	E574K	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,902 (GRCm38)	I148K	probably damaging	Het
Zcchc2	T	G	1: 106,018,252 (GRCm38)	I474R	probably damaging	Het
Zdhhc2	A	G	8: 40,447,141 (GRCm38)	K82R	probably benign	Het
Zfp273	A	G	13: 67,826,016 (GRCm38)	D421G	possibly damaging	Het
Zfp280d	T	C	9: 72,331,319 (GRCm38)	I639T	probably damaging	Het
Zfp429	A	T	13: 67,390,439 (GRCm38)	C295*	probably null	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23,343,140 (GRCm38)	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23,340,471 (GRCm38)	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23,321,667 (GRCm38)	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23,353,161 (GRCm38)	splice site	probably benign
IGL01815:Nlrp4e	APN	7	23,321,438 (GRCm38)	missense	probably benign	0.02
IGL01924:Nlrp4e	APN	7	23,320,830 (GRCm38)	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23,320,875 (GRCm38)	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23,321,291 (GRCm38)	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23,321,839 (GRCm38)	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23,301,433 (GRCm38)	missense	probably damaging	1.00
IGL02997:Nlrp4e	APN	7	23,301,374 (GRCm38)	missense	probably benign	0.04
IGL03193:Nlrp4e	APN	7	23,320,826 (GRCm38)	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23,353,343 (GRCm38)	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23,320,826 (GRCm38)	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23,355,203 (GRCm38)	missense	probably damaging	0.98
R1028:Nlrp4e	UTSW	7	23,321,744 (GRCm38)	missense	probably damaging	1.00
R1163:Nlrp4e	UTSW	7	23,320,972 (GRCm38)	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23,353,338 (GRCm38)	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23,321,660 (GRCm38)	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23,320,372 (GRCm38)	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23,321,843 (GRCm38)	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23,321,033 (GRCm38)	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23,320,995 (GRCm38)	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23,321,246 (GRCm38)	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23,355,261 (GRCm38)	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23,321,377 (GRCm38)	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23,340,563 (GRCm38)	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23,320,803 (GRCm38)	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4387:Nlrp4e	UTSW	7	23,301,477 (GRCm38)	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23,301,477 (GRCm38)	missense	probably benign	0.00
R4389:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23,321,463 (GRCm38)	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4486:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23,336,866 (GRCm38)	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23,320,979 (GRCm38)	missense	probably benign
R4666:Nlrp4e	UTSW	7	23,336,780 (GRCm38)	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23,321,096 (GRCm38)	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23,321,564 (GRCm38)	missense	probably benign
R4758:Nlrp4e	UTSW	7	23,320,618 (GRCm38)	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23,343,100 (GRCm38)	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23,336,740 (GRCm38)	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23,361,893 (GRCm38)	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23,321,438 (GRCm38)	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23,353,173 (GRCm38)	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23,321,765 (GRCm38)	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23,336,891 (GRCm38)	missense	probably benign	0.07
R5537:Nlrp4e	UTSW	7	23,320,489 (GRCm38)	missense	probably benign	0.00
R5584:Nlrp4e	UTSW	7	23,321,177 (GRCm38)	missense	probably benign
R5683:Nlrp4e	UTSW	7	23,353,272 (GRCm38)	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23,321,306 (GRCm38)	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23,353,172 (GRCm38)	missense	probably benign
R6427:Nlrp4e	UTSW	7	23,320,633 (GRCm38)	missense	possibly damaging	0.48
R6647:Nlrp4e	UTSW	7	23,321,315 (GRCm38)	missense	probably benign	0.00
R6929:Nlrp4e	UTSW	7	23,336,731 (GRCm38)	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23,321,528 (GRCm38)	missense	probably benign	0.07
R8169:Nlrp4e	UTSW	7	23,320,506 (GRCm38)	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23,340,540 (GRCm38)	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23,321,558 (GRCm38)	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23,321,131 (GRCm38)	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23,320,978 (GRCm38)	missense	probably benign
R9167:Nlrp4e	UTSW	7	23,340,526 (GRCm38)	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23,361,845 (GRCm38)	nonsense	probably null
R9219:Nlrp4e	UTSW	7	23,321,516 (GRCm38)	missense	possibly damaging	0.50
R9229:Nlrp4e	UTSW	7	23,321,374 (GRCm38)	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9323:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9325:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9379:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9380:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9448:Nlrp4e	UTSW	7	23,301,531 (GRCm38)	missense	probably benign
R9523:Nlrp4e	UTSW	7	23,355,211 (GRCm38)	missense	probably benign	0.00
R9593:Nlrp4e	UTSW	7	23,320,772 (GRCm38)	missense	probably benign	0.19
X0022:Nlrp4e	UTSW	7	23,343,119 (GRCm38)	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23,343,178 (GRCm38)	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23,355,223 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CCATGTAGACCATCCTAGCCAG -3'
(R):5'- GTGTTCTTGACCTTCACTCAGG -3'

Sequencing Primer
(F):5'- TCCTAGCCAGGATGTCAAAAG -3'
(R):5'- GACCTTCACTCAGGATATTCTGG -3'

Posted On

2019-11-26