Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02739:Gh'

305823

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000020713

Gene Name

growth hormone

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

106191097-106192691 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 106192559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103071]

AlphaFold

P06880

Predicted Effect

probably benign
Transcript: ENSMUST00000103071

SMART Domains

Protein: ENSMUSP00000099360
Gene: ENSMUSG00000020713

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	10	214	2.1e-47	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit dwarfism, an increased percentage of body white and brown fat, elevated plasma ghrelin levels, pituitary hypoplasia, small liver, delayed sexual maturation, and reduced fertility. Heterozygotes display a less pronounced phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,026,364 (GRCm39)	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,807,605 (GRCm39)	E352*	probably null	Het
Bglap2	A	T	3: 88,285,319 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,989,745 (GRCm39)	H2002Q	probably benign	Het
Chtop	T	A	3: 90,409,557 (GRCm39)	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,263,714 (GRCm39)		probably null	Het
Ctsr	T	C	13: 61,309,658 (GRCm39)	T184A	probably benign	Het
Defb36	T	C	2: 152,446,439 (GRCm39)	L11P	unknown	Het
Dock8	A	G	19: 25,165,852 (GRCm39)	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,973,756 (GRCm39)	Y106H	probably damaging	Het
Epas1	A	G	17: 87,112,710 (GRCm39)	T103A	probably damaging	Het
Epcam	A	T	17: 87,947,922 (GRCm39)	T131S	probably benign	Het
Fam169a	A	G	13: 97,230,563 (GRCm39)		probably benign	Het
Kif20a	A	T	18: 34,761,996 (GRCm39)	K399*	probably null	Het
Lrp1b	A	G	2: 41,388,227 (GRCm39)	I466T	probably damaging	Het
Nlk	A	G	11: 78,465,677 (GRCm39)	V409A	probably benign	Het
Nomo1	A	G	7: 45,693,731 (GRCm39)		probably null	Het
Nr2c1	T	A	10: 93,992,834 (GRCm39)	M16K	probably damaging	Het
Nxph2	A	T	2: 23,289,912 (GRCm39)	Q88L	probably benign	Het
Or51a39	A	G	7: 102,363,521 (GRCm39)	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,703,895 (GRCm39)	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,404,346 (GRCm39)	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,748,941 (GRCm39)		probably null	Het
Ppp1r42	T	A	1: 10,039,078 (GRCm39)	K347N	probably benign	Het
Prtg	T	C	9: 72,758,867 (GRCm39)	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,419,728 (GRCm39)	S194*	probably null	Het
Rnf214	T	C	9: 45,780,772 (GRCm39)	I406V	probably benign	Het
Rreb1	C	T	13: 38,077,797 (GRCm39)	S3L	probably damaging	Het
Sdad1	C	T	5: 92,437,931 (GRCm39)	A539T	probably benign	Het
Sema3a	A	G	5: 13,501,128 (GRCm39)	Y57C	probably damaging	Het
Susd5	A	G	9: 113,925,101 (GRCm39)	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,905,372 (GRCm39)	T175A	probably damaging	Het
Tcf20	T	A	15: 82,740,281 (GRCm39)	Q390L	probably damaging	Het
Tex15	A	G	8: 34,071,721 (GRCm39)	T2423A	possibly damaging	Het
Tlr1	T	C	5: 65,084,469 (GRCm39)	N36S	probably benign	Het
Uchl4	C	T	9: 64,142,819 (GRCm39)	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,612,129 (GRCm39)	K11R	probably benign	Het
Vps13b	T	A	15: 35,880,046 (GRCm39)	D3040E	probably damaging	Het
Wdr62	A	T	7: 29,941,885 (GRCm39)	Y640*	probably null	Het
Zkscan17	T	G	11: 59,394,352 (GRCm39)	E83A	probably damaging	Het

Other mutations in Gh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
atto	UTSW	11	106,192,230 (GRCm39)	nonsense	probably null
PIT4576001:Gh	UTSW	11	106,191,659 (GRCm39)	missense	possibly damaging	0.73
R0003:Gh	UTSW	11	106,192,346 (GRCm39)	missense	probably damaging	0.98
R1318:Gh	UTSW	11	106,191,923 (GRCm39)	missense	probably benign	0.02
R2084:Gh	UTSW	11	106,191,958 (GRCm39)	missense	probably damaging	1.00
R2277:Gh	UTSW	11	106,191,613 (GRCm39)	missense	probably damaging	1.00
R2279:Gh	UTSW	11	106,191,613 (GRCm39)	missense	probably damaging	1.00
R6744:Gh	UTSW	11	106,192,230 (GRCm39)	nonsense	probably null
R8033:Gh	UTSW	11	106,191,381 (GRCm39)	missense	probably benign	0.42
R8079:Gh	UTSW	11	106,192,253 (GRCm39)	missense	possibly damaging	0.91
R8924:Gh	UTSW	11	106,191,634 (GRCm39)	missense	probably damaging	1.00
Z1176:Gh	UTSW	11	106,192,010 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16