Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02997:Nlrp4e'

407157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4e

Ensembl Gene

ENSMUSG00000045693

Gene Name

NLR family, pyrin domain containing 4E

Synonyms

4930406H16Rik, Nalp4e, Nalp-epsilon

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02997

Quality Score

Status

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23301374 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 31 (Q31H)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: Q31H

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: Q31H

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 110,075,533		probably benign	Het
Adamts15	T	C	9: 30,906,057		probably benign	Het
Arsa	T	C	15: 89,474,038	D356G	probably damaging	Het
Cmbl	A	G	15: 31,585,344	K113E	probably benign	Het
Cmklr1	T	C	5: 113,614,640	D100G	probably benign	Het
Col23a1	T	A	11: 51,577,152	C517S	probably damaging	Het
Diexf	T	C	1: 193,120,584	Q275R	probably benign	Het
Frem1	T	A	4: 82,934,968	L1699F	probably damaging	Het
Ganab	A	G	19: 8,915,412	D900G	probably benign	Het
Glrp1	T	C	1: 88,509,785		probably benign	Het
Gm7030	A	G	17: 36,127,836	V221A	possibly damaging	Het
Grasp	T	C	15: 101,231,018	S216P	probably damaging	Het
Gys2	A	T	6: 142,449,469	D423E	probably damaging	Het
Hp	C	A	8: 109,575,786	V177F	probably damaging	Het
Isoc1	T	C	18: 58,671,444		probably benign	Het
Kif18b	A	G	11: 102,909,084	L513P	probably damaging	Het
Kifc2	T	C	15: 76,664,339	V342A	possibly damaging	Het
Krt78	A	T	15: 101,947,163	S738T	probably benign	Het
Lats1	A	G	10: 7,702,254	N381D	possibly damaging	Het
Masp2	C	A	4: 148,603,175		probably benign	Het
Mybpc1	G	T	10: 88,526,373	N982K	probably damaging	Het
Ncor2	A	T	5: 125,119,570		probably benign	Het
Nkg7	T	C	7: 43,437,867	F133L	probably damaging	Het
Nlrp1a	A	T	11: 71,123,665	I253N	probably damaging	Het
Olfr1184	A	C	2: 88,487,388	I219L	probably damaging	Het
Orc6	T	A	8: 85,306,208		probably benign	Het
Pbrm1	C	T	14: 31,061,551	L542F	probably damaging	Het
Pcdh10	T	C	3: 45,379,362	I37T	probably damaging	Het
Pex5l	C	A	3: 32,955,842		probably benign	Het
Prl2b1	A	G	13: 27,385,104		probably benign	Het
Rnf168	G	A	16: 32,285,421	E146K	probably damaging	Het
Rsph6a	T	G	7: 19,054,839	L32R	probably benign	Het
Scaper	C	T	9: 55,815,499	R675H	probably damaging	Het
Sf3a2	G	A	10: 80,803,620	R148H	probably damaging	Het
Shank2	A	G	7: 144,081,873	N328S	probably benign	Het
Smurf1	T	A	5: 144,898,005	R153*	probably null	Het
Sorcs2	C	T	5: 36,068,148	V126M	probably damaging	Het
Trav7d-4	T	C	14: 52,770,256	S69P	probably damaging	Het
Trh	G	T	6: 92,243,134		probably benign	Het
Utp20	A	G	10: 88,814,034	V438A	probably benign	Het
Wdfy3	T	C	5: 101,894,912	E1991G	probably null	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23343140	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23340471	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23321667	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23353161	splice site	probably benign
IGL01815:Nlrp4e	APN	7	23321438	missense	probably benign	0.02
IGL01924:Nlrp4e	APN	7	23320830	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23320875	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23321291	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23321839	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23301433	missense	probably damaging	1.00
IGL03193:Nlrp4e	APN	7	23320826	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23353343	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23320826	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23355203	missense	probably damaging	0.98
R1028:Nlrp4e	UTSW	7	23321744	missense	probably damaging	1.00
R1163:Nlrp4e	UTSW	7	23320972	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23353338	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23321660	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23320372	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23321843	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23321033	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23320995	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23321246	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23355261	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23321377	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23340563	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23320803	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23301477	missense	probably benign	0.00
R4387:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23301477	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4389:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23321463	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4486:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23336866	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23320979	missense	probably benign
R4666:Nlrp4e	UTSW	7	23336780	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23321096	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23321564	missense	probably benign
R4758:Nlrp4e	UTSW	7	23320618	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23343100	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23336740	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23361893	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23321438	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23353173	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23321765	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23336891	missense	probably benign	0.07
R5537:Nlrp4e	UTSW	7	23320489	missense	probably benign	0.00
R5584:Nlrp4e	UTSW	7	23321177	missense	probably benign
R5683:Nlrp4e	UTSW	7	23353272	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23321306	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23353172	missense	probably benign
R6427:Nlrp4e	UTSW	7	23320633	missense	possibly damaging	0.48
R6647:Nlrp4e	UTSW	7	23321315	missense	probably benign	0.00
R6929:Nlrp4e	UTSW	7	23336731	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23321528	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23321757	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23320506	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23340540	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23321558	missense	probably benign	0.00
X0022:Nlrp4e	UTSW	7	23343119	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23343178	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23355223	missense	possibly damaging	0.87

Posted On

2016-08-02