Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03352:Nlrp4e'

419741

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 #

IGL03352

Quality Score

Status

Chromosome

Chromosomal Location

23000617-23061702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23020251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 246 (L246Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably damaging
Transcript: ENSMUST00000076470
AA Change: L246Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: L246Q

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	G	13: 21,184,213 (GRCm39)	S426G	probably benign	Het
Arap3	T	C	18: 38,114,355 (GRCm39)		probably benign	Het
Arhgap45	T	A	10: 79,866,585 (GRCm39)	N1029K	probably damaging	Het
Arhgef10l	A	T	4: 140,311,242 (GRCm39)	M1K	probably null	Het
Bloc1s6	T	C	2: 122,584,638 (GRCm39)	L71P	probably damaging	Het
Ccer1	G	T	10: 97,529,439 (GRCm39)	R34M	unknown	Het
Cd44	T	C	2: 102,675,759 (GRCm39)		probably benign	Het
Col17a1	T	C	19: 47,669,814 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,117,662 (GRCm39)	E38G	possibly damaging	Het
Dock10	A	T	1: 80,584,013 (GRCm39)		probably benign	Het
Dsg3	A	T	18: 20,660,689 (GRCm39)	M343L	probably benign	Het
Eif3l	G	A	15: 78,961,251 (GRCm39)		probably benign	Het
Fcrl1	T	C	3: 87,292,398 (GRCm39)	L150P	probably benign	Het
Flg2	T	G	3: 93,109,801 (GRCm39)	S610A	unknown	Het
Grin3b	C	T	10: 79,809,615 (GRCm39)	R374C	probably damaging	Het
H2-Oa	A	T	17: 34,313,377 (GRCm39)	I143F	probably damaging	Het
Itgae	C	T	11: 73,022,556 (GRCm39)	P924S	probably damaging	Het
Itpr2	T	A	6: 146,058,602 (GRCm39)	D2521V	probably damaging	Het
Itprid2	T	A	2: 79,475,445 (GRCm39)	M468K	probably damaging	Het
Laptm4a	G	A	12: 8,981,719 (GRCm39)	G143D	probably benign	Het
Lrp6	T	C	6: 134,456,726 (GRCm39)	Y846C	probably damaging	Het
Mcm10	A	T	2: 4,999,407 (GRCm39)	S749T	probably damaging	Het
Nemf	T	C	12: 69,378,679 (GRCm39)	N548D	probably damaging	Het
Nsun6	A	T	2: 15,001,157 (GRCm39)	C466*	probably null	Het
Olfm2	T	C	9: 20,580,019 (GRCm39)	D252G	probably damaging	Het
Or10j5	A	C	1: 172,784,850 (GRCm39)	M163L	probably benign	Het
Or14j9	T	A	17: 37,874,681 (GRCm39)	I174F	probably damaging	Het
Or2h1	G	A	17: 37,404,311 (GRCm39)	L152F	probably benign	Het
Or9i14	T	C	19: 13,792,292 (GRCm39)	I221V	probably damaging	Het
Pcdhb14	C	T	18: 37,582,057 (GRCm39)	R388C	possibly damaging	Het
Piwil1	C	T	5: 128,828,136 (GRCm39)	T712I	probably benign	Het
Piwil4	G	T	9: 14,637,183 (GRCm39)	T377K	probably damaging	Het
Prg3	T	C	2: 84,823,370 (GRCm39)	F182L	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Retsat	T	C	6: 72,575,666 (GRCm39)	V19A	probably damaging	Het
Rpl21-ps4	A	T	14: 11,227,760 (GRCm38)		noncoding transcript	Het
Sh3glb2	A	G	2: 30,235,363 (GRCm39)	V370A	probably damaging	Het
Skint4	G	T	4: 112,022,883 (GRCm39)	W459C	possibly damaging	Het
Slco1a1	T	A	6: 141,857,611 (GRCm39)	R573S	probably benign	Het
Smgc	T	C	15: 91,744,876 (GRCm39)	S694P	probably damaging	Het
Spaca6	A	G	17: 18,058,401 (GRCm39)	Y7C	probably damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Tepsin	C	T	11: 119,982,703 (GRCm39)	V456I	probably benign	Het
Tex261	C	T	6: 83,748,249 (GRCm39)	R171Q	possibly damaging	Het
Tmem184a	A	T	5: 139,798,755 (GRCm39)	F65I	probably damaging	Het
Tpm3	G	A	3: 89,995,052 (GRCm39)		probably null	Het
Tubgcp2	T	A	7: 139,580,940 (GRCm39)	H671L	probably benign	Het
Unc13b	T	G	4: 43,237,110 (GRCm39)	D3393E	possibly damaging	Het
Vcan	T	A	13: 89,853,125 (GRCm39)	M612L	probably benign	Het
Vmn1r180	C	A	7: 23,652,077 (GRCm39)	S80*	probably null	Het
Vmn1r64	C	T	7: 5,887,070 (GRCm39)	V158I	probably benign	Het
Vps13d	C	T	4: 144,894,072 (GRCm39)	V496I	possibly damaging	Het
Wee2	T	G	6: 40,429,589 (GRCm39)		probably null	Het
Zfp804b	T	C	5: 6,820,039 (GRCm39)	N972S	probably benign	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
IGL01815:Nlrp4e	APN	7	23,020,863 (GRCm39)	missense	probably benign	0.02
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
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

2016-08-02