Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01815:Nlrp4e'

154372

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01815

Quality Score

Status

Chromosome

Chromosomal Location

23000617-23061702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23020863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 450 (L450P)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: L450P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: L450P

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

Meta Mutation Damage Score

0.2112

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,986,644 (GRCm39)	E324G	probably damaging	Het
Arhgap20	T	A	9: 51,757,468 (GRCm39)	Y487N	probably damaging	Het
Babam2	C	T	5: 31,859,442 (GRCm39)	A3V	possibly damaging	Het
Fat4	T	C	3: 38,942,922 (GRCm39)	L605P	probably damaging	Het
Frmpd1	A	G	4: 45,284,239 (GRCm39)	H1020R	probably benign	Het
Ighv1-53	T	A	12: 115,122,217 (GRCm39)	M53L	probably benign	Het
Lepr	A	T	4: 101,671,987 (GRCm39)	I1004F	possibly damaging	Het
Limd1	T	C	9: 123,308,801 (GRCm39)	S167P	probably benign	Het
Lrrc10b	T	C	19: 10,434,117 (GRCm39)	D188G	probably damaging	Het
Or56b1	T	A	7: 104,285,552 (GRCm39)	Y224N	probably damaging	Het
Or5b104	A	T	19: 13,073,020 (GRCm39)		probably null	Het
Or7e165	A	G	9: 19,695,311 (GRCm39)	N294S	probably damaging	Het
Or7g21	G	T	9: 19,032,622 (GRCm39)	D121Y	probably damaging	Het
P2ry13	T	C	3: 59,117,121 (GRCm39)	N219S	probably benign	Het
Pcnx1	A	G	12: 82,037,325 (GRCm39)	D1861G	probably damaging	Het
Phlpp2	A	G	8: 110,666,491 (GRCm39)	I1007V	probably benign	Het
Ppp2r1a	A	G	17: 21,177,094 (GRCm39)	N211D	probably benign	Het
Psmd5	A	T	2: 34,742,783 (GRCm39)	F440L	probably benign	Het
Rpe65	T	A	3: 159,310,167 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,528,460 (GRCm39)	T2172A	probably benign	Het
Vwa8	C	T	14: 79,435,717 (GRCm39)	T1809M	possibly damaging	Het
Wdr70	C	T	15: 7,916,805 (GRCm39)		probably null	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23,042,565 (GRCm39)	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23,039,896 (GRCm39)	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23,021,092 (GRCm39)	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23,052,586 (GRCm39)	splice site	probably benign
IGL01924:Nlrp4e	APN	7	23,020,255 (GRCm39)	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23,020,300 (GRCm39)	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23,020,716 (GRCm39)	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23,021,264 (GRCm39)	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23,000,858 (GRCm39)	missense	probably damaging	1.00
IGL02997:Nlrp4e	APN	7	23,000,799 (GRCm39)	missense	probably benign	0.04
IGL03193:Nlrp4e	APN	7	23,020,251 (GRCm39)	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23,052,768 (GRCm39)	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23,020,251 (GRCm39)	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23,054,628 (GRCm39)	missense	probably damaging	0.98
R1028:Nlrp4e	UTSW	7	23,021,169 (GRCm39)	missense	probably damaging	1.00
R1163:Nlrp4e	UTSW	7	23,020,397 (GRCm39)	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23,052,763 (GRCm39)	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23,021,085 (GRCm39)	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23,019,797 (GRCm39)	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23,021,268 (GRCm39)	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23,020,458 (GRCm39)	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23,020,420 (GRCm39)	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23,020,671 (GRCm39)	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23,054,686 (GRCm39)	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23,020,802 (GRCm39)	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23,039,988 (GRCm39)	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23,020,228 (GRCm39)	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4387:Nlrp4e	UTSW	7	23,000,902 (GRCm39)	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23,000,902 (GRCm39)	missense	probably benign	0.00
R4389:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23,020,888 (GRCm39)	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4486:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23,036,291 (GRCm39)	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23,020,404 (GRCm39)	missense	probably benign
R4666:Nlrp4e	UTSW	7	23,036,205 (GRCm39)	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23,020,521 (GRCm39)	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23,020,989 (GRCm39)	missense	probably benign
R4758:Nlrp4e	UTSW	7	23,020,043 (GRCm39)	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23,042,525 (GRCm39)	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23,036,165 (GRCm39)	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23,061,318 (GRCm39)	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23,020,863 (GRCm39)	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23,052,598 (GRCm39)	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23,021,190 (GRCm39)	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23,036,316 (GRCm39)	missense	probably benign	0.07
R5537:Nlrp4e	UTSW	7	23,019,914 (GRCm39)	missense	probably benign	0.00
R5584:Nlrp4e	UTSW	7	23,020,602 (GRCm39)	missense	probably benign
R5683:Nlrp4e	UTSW	7	23,052,697 (GRCm39)	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23,020,731 (GRCm39)	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23,052,597 (GRCm39)	missense	probably benign
R6427:Nlrp4e	UTSW	7	23,020,058 (GRCm39)	missense	possibly damaging	0.48
R6647:Nlrp4e	UTSW	7	23,020,740 (GRCm39)	missense	probably benign	0.00
R6929:Nlrp4e	UTSW	7	23,036,156 (GRCm39)	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23,020,953 (GRCm39)	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23,021,182 (GRCm39)	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23,019,931 (GRCm39)	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23,039,965 (GRCm39)	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23,020,983 (GRCm39)	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23,020,556 (GRCm39)	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23,020,403 (GRCm39)	missense	probably benign
R9167:Nlrp4e	UTSW	7	23,039,951 (GRCm39)	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23,061,270 (GRCm39)	nonsense	probably null
R9219:Nlrp4e	UTSW	7	23,020,941 (GRCm39)	missense	possibly damaging	0.50
R9229:Nlrp4e	UTSW	7	23,020,799 (GRCm39)	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9323:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9325:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9379:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9380:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9448:Nlrp4e	UTSW	7	23,000,956 (GRCm39)	missense	probably benign
R9523:Nlrp4e	UTSW	7	23,054,636 (GRCm39)	missense	probably benign	0.00
R9593:Nlrp4e	UTSW	7	23,020,197 (GRCm39)	missense	probably benign	0.19
X0022:Nlrp4e	UTSW	7	23,042,544 (GRCm39)	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23,042,603 (GRCm39)	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23,054,648 (GRCm39)	missense	possibly damaging	0.87

Posted On

2014-02-04