Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01459:Nmu'

87952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nmu

Ensembl Gene

ENSMUSG00000029236

Gene Name

neuromedin U

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01459

Quality Score

Status

Chromosome

Chromosomal Location

76481342-76511624 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 76506196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031146]

AlphaFold

Q9QXK8

Predicted Effect

probably null
Transcript: ENSMUST00000031146

SMART Domains

Protein: ENSMUSP00000031146
Gene: ENSMUSG00000029236

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
low complexity region	45	56	N/A	INTRINSIC
low complexity region	121	137	N/A	INTRINSIC
Pfam:NMU	144	166	1.2e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice are healthy and viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2a2	A	G	5: 122,607,715 (GRCm39)	S265P	probably benign	Het
Brwd1	A	G	16: 95,848,620 (GRCm39)	F520L	probably damaging	Het
Cdh5	A	T	8: 104,864,449 (GRCm39)	D470V	probably damaging	Het
Cdr2l	A	G	11: 115,281,378 (GRCm39)	R41G	probably damaging	Het
Csrnp1	C	T	9: 119,802,024 (GRCm39)	C345Y	probably damaging	Het
Dscaml1	T	A	9: 45,653,981 (GRCm39)	Y1419*	probably null	Het
Entpd3	T	C	9: 120,391,007 (GRCm39)	S420P	probably damaging	Het
Epb41	A	G	4: 131,691,439 (GRCm39)		probably benign	Het
Erg	A	G	16: 95,162,141 (GRCm39)	S322P	probably damaging	Het
Fndc3b	T	A	3: 27,515,889 (GRCm39)	H639L	probably benign	Het
Grwd1	C	T	7: 45,479,834 (GRCm39)		probably null	Het
Kbtbd8	A	G	6: 95,099,789 (GRCm39)	N356D	probably benign	Het
Kif15	A	G	9: 122,804,820 (GRCm39)	E189G	probably damaging	Het
Kif2b	T	C	11: 91,467,849 (GRCm39)	K145E	possibly damaging	Het
Kif5c	A	G	2: 49,625,569 (GRCm39)	D613G	probably benign	Het
Lipe	T	G	7: 25,082,967 (GRCm39)	Q457P	probably damaging	Het
Lrp1b	A	T	2: 40,750,726 (GRCm39)	I2946N	probably damaging	Het
Mtf2	C	T	5: 108,228,809 (GRCm39)	P42S	probably damaging	Het
Neb	A	G	2: 52,066,804 (GRCm39)	S5886P	probably damaging	Het
Nup153	T	C	13: 46,866,402 (GRCm39)	E214G	possibly damaging	Het
Or14c44	A	C	7: 86,061,759 (GRCm39)	N104T	probably damaging	Het
Or6c66b	G	A	10: 129,376,410 (GRCm39)	M1I	probably null	Het
Paqr3	T	C	5: 97,243,796 (GRCm39)	D306G	probably benign	Het
Plxna2	A	G	1: 194,446,878 (GRCm39)	D796G	probably benign	Het
Prkra	A	G	2: 76,460,780 (GRCm39)	L306S	probably damaging	Het
Psg20	T	A	7: 18,416,638 (GRCm39)	E159D	probably damaging	Het
Ptchd3	G	T	11: 121,721,246 (GRCm39)	V40L	probably benign	Het
Rfx5	T	C	3: 94,865,086 (GRCm39)		probably benign	Het
Rimbp2	A	G	5: 128,865,275 (GRCm39)		probably null	Het
Slc22a4	C	A	11: 53,877,303 (GRCm39)		probably null	Het
Tars1	A	G	15: 11,391,940 (GRCm39)	V265A	possibly damaging	Het
Tatdn2	T	A	6: 113,686,992 (GRCm39)		probably null	Het
Tenm4	C	T	7: 96,378,592 (GRCm39)	P399L	probably damaging	Het
Tmem135	A	T	7: 88,800,646 (GRCm39)	D325E	probably damaging	Het
Tmprss7	A	T	16: 45,483,706 (GRCm39)	I556N	probably benign	Het
Tom1l2	C	T	11: 60,171,095 (GRCm39)	G23S	probably damaging	Het
Ubr2	A	G	17: 47,241,435 (GRCm39)		probably benign	Het
Vmn1r197	T	C	13: 22,512,241 (GRCm39)	I54T	probably benign	Het
Vmn2r116	T	C	17: 23,603,903 (GRCm39)	C43R	probably damaging	Het
Vps33a	A	G	5: 123,673,371 (GRCm39)	L405P	probably benign	Het
Zfp473	C	T	7: 44,388,987 (GRCm39)	D45N	probably damaging	Het

Other mutations in Nmu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Nmu	APN	5	76,491,774 (GRCm39)	missense	probably damaging	0.97
IGL01511:Nmu	APN	5	76,488,668 (GRCm39)	missense	probably damaging	0.98
R1387:Nmu	UTSW	5	76,497,992 (GRCm39)	nonsense	probably null
R4487:Nmu	UTSW	5	76,491,909 (GRCm39)	critical splice donor site	probably null
R5514:Nmu	UTSW	5	76,497,979 (GRCm39)	missense	probably damaging	0.96
R6408:Nmu	UTSW	5	76,491,818 (GRCm39)	missense	probably damaging	1.00
R8517:Nmu	UTSW	5	76,493,326 (GRCm39)	missense	possibly damaging	0.62
R9115:Nmu	UTSW	5	76,511,572 (GRCm39)	start gained	probably benign

Posted On

2013-11-18