Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02088:Nms'

279334

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nms

Ensembl Gene

ENSMUSG00000067604

Gene Name

neuromedin S

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02088

Quality Score

Status

Chromosome

Chromosomal Location

38978230-38989357 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 38978358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088029] [ENSMUST00000160214]

AlphaFold

Q5H8A1

Predicted Effect

probably benign
Transcript: ENSMUST00000088029

SMART Domains

Protein: ENSMUSP00000085346
Gene: ENSMUSG00000067604

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160214

SMART Domains

Protein: ENSMUSP00000125166
Gene: ENSMUSG00000067604

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: 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 the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. Mice lacking the encoded neuropeptide exhibit decreased heart rate without any accompanying changes in blood pressure. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature peptide. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	C	9: 103,976,080 (GRCm39)	E289G	probably damaging	Het
Aldh1l1	A	T	6: 90,557,572 (GRCm39)		probably benign	Het
Ampd3	T	A	7: 110,392,893 (GRCm39)	D220E	probably benign	Het
Ank3	T	C	10: 69,835,203 (GRCm39)	V136A	probably damaging	Het
Atg14	T	C	14: 47,780,316 (GRCm39)	K486R	probably benign	Het
Axin1	A	G	17: 26,407,669 (GRCm39)	I637V	probably benign	Het
Axin2	T	A	11: 108,814,442 (GRCm39)	F110Y	probably damaging	Het
Cdh12	A	T	15: 21,480,425 (GRCm39)	K214*	probably null	Het
Cfap44	A	C	16: 44,271,991 (GRCm39)	E1248A	possibly damaging	Het
Cryba4	A	G	5: 112,398,875 (GRCm39)		probably benign	Het
Cyp2c68	A	G	19: 39,691,965 (GRCm39)		probably benign	Het
Dnah5	G	T	15: 28,459,264 (GRCm39)		probably null	Het
Dok3	A	T	13: 55,672,183 (GRCm39)	V165E	probably damaging	Het
Etl4	A	T	2: 20,811,359 (GRCm39)	R1147S	probably damaging	Het
Fbxl6	G	T	15: 76,420,106 (GRCm39)	C502*	probably null	Het
Gp2	A	T	7: 119,053,692 (GRCm39)	Y90N	probably damaging	Het
H1f7	G	T	15: 98,155,059 (GRCm39)	T30K	probably damaging	Het
Inka1	A	G	9: 107,861,656 (GRCm39)	F220S	probably damaging	Het
Itfg2	A	G	6: 128,388,569 (GRCm39)	V306A	probably benign	Het
Lrig2	T	C	3: 104,374,424 (GRCm39)	Y219C	probably damaging	Het
Mccc1	A	T	3: 36,028,351 (GRCm39)	I485N	probably damaging	Het
Mettl25	A	G	10: 105,659,111 (GRCm39)	F391L	probably damaging	Het
Muc19	C	T	15: 91,775,362 (GRCm39)		noncoding transcript	Het
Muc2	T	C	7: 141,305,241 (GRCm39)	C182R	probably damaging	Het
Nlrp4g	T	C	9: 124,350,453 (GRCm38)		noncoding transcript	Het
Nr3c1	T	C	18: 39,557,444 (GRCm39)	N503S	probably damaging	Het
Or10q12	T	C	19: 13,746,030 (GRCm39)	F108S	probably damaging	Het
Or5h18	A	G	16: 58,847,415 (GRCm39)	L285P	probably damaging	Het
Or7g16	C	T	9: 18,727,219 (GRCm39)	V124I	probably benign	Het
Pcdhb5	G	A	18: 37,455,012 (GRCm39)	S464N	probably benign	Het
Pcgf6	T	C	19: 47,039,243 (GRCm39)	T6A	unknown	Het
Rdx	A	G	9: 51,972,183 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,680,479 (GRCm39)	T403A	probably damaging	Het
Slc35d1	A	G	4: 103,068,522 (GRCm39)	F148L	probably benign	Het
Tk1	A	G	11: 117,715,491 (GRCm39)		probably benign	Het
Tnks	T	A	8: 35,307,148 (GRCm39)	I1134F	possibly damaging	Het
Ttn	A	G	2: 76,557,035 (GRCm39)	V29990A	probably damaging	Het
Tut4	A	G	4: 108,369,415 (GRCm39)		probably benign	Het

Other mutations in Nms

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Nms	APN	1	38,985,192 (GRCm39)	missense	possibly damaging	0.92
IGL01959:Nms	APN	1	38,981,006 (GRCm39)	splice site	probably benign
IGL02810:Nms	APN	1	38,987,725 (GRCm39)	missense	possibly damaging	0.94
IGL03001:Nms	APN	1	38,980,993 (GRCm39)	missense	probably benign	0.12
alacrity	UTSW	1	38,980,976 (GRCm39)	missense	probably benign	0.04
R1087:Nms	UTSW	1	38,983,192 (GRCm39)	critical splice donor site	probably null
R3689:Nms	UTSW	1	38,986,075 (GRCm39)	splice site	probably benign
R4426:Nms	UTSW	1	38,978,377 (GRCm39)	missense	probably benign
R6910:Nms	UTSW	1	38,980,976 (GRCm39)	missense	probably benign	0.04
R7258:Nms	UTSW	1	38,986,051 (GRCm39)	missense	probably benign	0.01
R8848:Nms	UTSW	1	38,978,391 (GRCm39)	missense	probably benign
R9108:Nms	UTSW	1	38,985,147 (GRCm39)	missense	possibly damaging	0.78
R9493:Nms	UTSW	1	38,980,982 (GRCm39)	missense	probably benign

Posted On

2015-04-16