Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01025:Nlrp4e'

60055

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 #

IGL01025

Quality Score

Status

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 23353161 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076470

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208495

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,046,280	H1218Q	possibly damaging	Het
Acap3	G	A	4: 155,902,219	V335M	probably damaging	Het
Apex1	C	T	14: 50,926,254	L113F	possibly damaging	Het
C530008M17Rik	A	G	5: 76,658,074		probably benign	Het
Cd33	C	T	7: 43,532,905	V39M	probably damaging	Het
Chek2	A	G	5: 110,848,670	D166G	probably damaging	Het
Col2a1	T	C	15: 97,976,173	K1376R	unknown	Het
Cpd	C	T	11: 76,795,613	R963H	probably damaging	Het
Cyp2c67	A	C	19: 39,639,932	Y189*	probably null	Het
Dock6	T	C	9: 21,811,807	E1606G	possibly damaging	Het
Dusp4	A	T	8: 34,818,512	E309V	probably benign	Het
Dync2h1	A	G	9: 7,162,789	I600T	probably damaging	Het
Fer1l4	A	G	2: 156,052,185	V66A	probably benign	Het
Fktn	T	C	4: 53,737,568	L269P	possibly damaging	Het
Ftsj3	A	G	11: 106,250,359	I645T	probably damaging	Het
Fxr2	A	G	11: 69,643,887	H198R	probably damaging	Het
Fzd7	T	C	1: 59,484,380	V474A	probably damaging	Het
Gm10295	T	A	7: 71,350,658	D58V	unknown	Het
Gm13119	T	A	4: 144,363,377	L329Q	probably damaging	Het
Hdlbp	T	C	1: 93,430,169	I337V	probably benign	Het
Hydin	T	C	8: 110,326,401	V235A	probably benign	Het
Igfbp4	C	T	11: 99,048,243	H30Y	probably damaging	Het
Kcna4	T	C	2: 107,296,391	V490A	probably damaging	Het
Kcnj13	T	G	1: 87,386,978	D174A	probably benign	Het
Krt7	T	A	15: 101,423,421	L373Q	probably benign	Het
Lama3	G	A	18: 12,481,037	V1288I	probably benign	Het
Mroh9	T	C	1: 163,047,866	D488G	possibly damaging	Het
Myh7	T	C	14: 54,979,537	E1121G	probably damaging	Het
Myom1	A	G	17: 71,077,917	N768D	probably damaging	Het
Naa16	T	C	14: 79,384,756	T48A	probably damaging	Het
Naglu	C	T	11: 101,073,947	P287S	probably benign	Het
Nipbl	A	G	15: 8,350,455	V951A	possibly damaging	Het
Nlrp3	T	A	11: 59,551,887	M755K	probably benign	Het
Nt5dc1	C	T	10: 34,407,557	A79T	possibly damaging	Het
Olfr432	T	C	1: 174,050,685	F104S	probably damaging	Het
Olfr775	A	T	10: 129,250,740	I69F	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,733		probably benign	Het
Otof	A	G	5: 30,384,253	L774P	possibly damaging	Het
Phf20l1	C	T	15: 66,613,132	R322C	probably damaging	Het
Pkhd1	C	T	1: 20,209,176	G2973R	probably benign	Het
Plekhg5	G	T	4: 152,108,526	D613Y	probably damaging	Het
Ppm1h	T	A	10: 122,878,629		probably null	Het
Prpf39	T	C	12: 65,042,481		probably benign	Het
Rtn3	A	G	19: 7,483,041	S15P	unknown	Het
Slc22a28	G	T	19: 8,116,908		probably benign	Het
Slc4a5	T	A	6: 83,262,533	L143Q	probably damaging	Het
Sox17	T	C	1: 4,492,203	D130G	possibly damaging	Het
Stag1	A	G	9: 100,951,657	T1108A	possibly damaging	Het
Sugp2	G	A	8: 70,242,535	D53N	probably damaging	Het
Trim33	G	A	3: 103,353,918		probably benign	Het
Ttn	A	G	2: 76,799,224	I14291T	probably damaging	Het
Ttn	A	G	2: 76,789,525	V15933A	probably damaging	Het
Tulp3	A	C	6: 128,325,884	I324S	probably damaging	Het
Zfhx2	T	C	14: 55,064,260	E2089G	probably damaging	Het
Zhx1	T	C	15: 58,054,679	D57G	probably benign	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
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
IGL02997:Nlrp4e	APN	7	23301374	missense	probably benign	0.04
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

2013-07-11