Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02745:Nlrp4e'

306103

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 #

IGL02745

Quality Score

Status

Chromosome

Chromosomal Location

23000617-23061702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23020716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 401 (L401Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably damaging
Transcript: ENSMUST00000076470
AA Change: L401Q

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

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: L401Q

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,282 (GRCm39)	E167G	probably benign	Het
Aldh1a1	A	G	19: 20,614,028 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,805,950 (GRCm39)	H152R	probably damaging	Het
Bpifb4	T	A	2: 153,789,141 (GRCm39)	L316Q	probably damaging	Het
C2cd5	A	T	6: 142,987,256 (GRCm39)	L155I	probably benign	Het
Chrdl2	T	A	7: 99,670,170 (GRCm39)	C98S	probably damaging	Het
Clnk	A	G	5: 38,893,662 (GRCm39)	S232P	probably benign	Het
Csf3	A	G	11: 98,593,303 (GRCm39)	D140G	probably damaging	Het
Dnah7b	T	A	1: 46,234,189 (GRCm39)		probably benign	Het
Fetub	T	C	16: 22,756,676 (GRCm39)	V259A	probably damaging	Het
Gga2	G	T	7: 121,607,592 (GRCm39)	R108S	probably damaging	Het
Hip1r	C	A	5: 124,129,002 (GRCm39)		probably null	Het
Hsd17b3	A	G	13: 64,234,990 (GRCm39)	F62L	probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Man1a	C	T	10: 53,853,206 (GRCm39)	R304Q	probably damaging	Het
Med17	A	G	9: 15,176,642 (GRCm39)		probably benign	Het
Mrgprb4	T	C	7: 47,848,106 (GRCm39)	Y274C	probably damaging	Het
Myh8	C	T	11: 67,188,327 (GRCm39)	T996I	possibly damaging	Het
Niban3	G	T	8: 72,057,682 (GRCm39)		probably null	Het
Oas1h	G	A	5: 120,999,542 (GRCm39)	R9Q	probably benign	Het
Or4c111	A	G	2: 88,844,232 (GRCm39)	Y59H	probably damaging	Het
Or4d10b	C	T	19: 12,036,565 (GRCm39)	V184I	probably benign	Het
Or8g51	T	C	9: 38,609,494 (GRCm39)	H56R	probably damaging	Het
Otor	A	G	2: 142,923,076 (GRCm39)	D122G	possibly damaging	Het
Pcdh18	T	A	3: 49,710,340 (GRCm39)	Q325L	probably damaging	Het
Ppfibp1	T	C	6: 146,923,852 (GRCm39)		probably benign	Het
Pramel16	A	T	4: 143,677,294 (GRCm39)	L95Q	probably damaging	Het
Prlr	T	A	15: 10,328,680 (GRCm39)	I385N	possibly damaging	Het
Rap1gds1	A	G	3: 138,662,002 (GRCm39)	V418A	probably damaging	Het
Rdh1	A	T	10: 127,601,288 (GRCm39)	T279S	probably benign	Het
Slc17a3	C	A	13: 24,026,469 (GRCm39)	Q13K	probably benign	Het
Slc22a20	T	C	19: 6,022,901 (GRCm39)	N414S	probably damaging	Het
Slc4a1	C	A	11: 102,247,093 (GRCm39)	C498F	probably damaging	Het
Sp8	G	A	12: 118,813,326 (GRCm39)	G394S	probably damaging	Het
Ssh2	C	T	11: 77,346,233 (GRCm39)	T1406I	probably damaging	Het
Stra6	T	A	9: 58,059,321 (GRCm39)	D561E	probably damaging	Het
Stxbp5l	G	A	16: 37,007,016 (GRCm39)	Q726*	probably null	Het
Synpo2	G	A	3: 122,907,261 (GRCm39)	T685I	probably damaging	Het
Tasor2	A	T	13: 3,635,140 (GRCm39)	S556T	probably benign	Het
Ttc27	A	G	17: 75,046,728 (GRCm39)	D263G	probably benign	Het
Ttn	G	A	2: 76,594,332 (GRCm39)	P18793S	possibly damaging	Het
Vmn2r109	A	G	17: 20,761,512 (GRCm39)	V615A	probably damaging	Het
Vmn2r76	T	G	7: 85,879,495 (GRCm39)	K268N	probably benign	Het
Zeb2	A	G	2: 44,884,487 (GRCm39)		probably benign	Het
Zfp286	C	A	11: 62,671,700 (GRCm39)	K124N	probably damaging	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
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

2015-04-16