Incidental Mutation 'IGL02739:Gh'
ID305823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gh
Ensembl Gene ENSMUSG00000020713
Gene Namegrowth hormone
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #IGL02739
Quality Score
Status
Chromosome11
Chromosomal Location106300271-106301865 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 106301733 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103071]
Predicted Effect probably benign
Transcript: ENSMUST00000103071
SMART Domains Protein: ENSMUSP00000099360
Gene: ENSMUSG00000020713

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,878,517 C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 E352* probably null Het
Bglap2 A T 3: 88,378,012 probably null Het
Bsn A T 9: 108,112,546 H2002Q probably benign Het
Chtop T A 3: 90,502,250 Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 probably null Het
Ctsr T C 13: 61,161,844 T184A probably benign Het
Defb36 T C 2: 152,604,519 L11P unknown Het
Dock8 A G 19: 25,188,488 E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 Y106H probably damaging Het
Epas1 A G 17: 86,805,282 T103A probably damaging Het
Epcam A T 17: 87,640,494 T131S probably benign Het
Fam169a A G 13: 97,094,055 probably benign Het
Kif20a A T 18: 34,628,943 K399* probably null Het
Lrp1b A G 2: 41,498,215 I466T probably damaging Het
Nlk A G 11: 78,574,851 V409A probably benign Het
Nomo1 A G 7: 46,044,307 probably null Het
Nr2c1 T A 10: 94,156,972 M16K probably damaging Het
Nxph2 A T 2: 23,399,900 Q88L probably benign Het
Olfr33 A G 7: 102,714,314 I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 probably null Het
Ppp1r42 T A 1: 9,968,853 K347N probably benign Het
Prtg T C 9: 72,851,585 V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 S194* probably null Het
Rnf214 T C 9: 45,869,474 I406V probably benign Het
Rreb1 C T 13: 37,893,821 S3L probably damaging Het
Sdad1 C T 5: 92,290,072 A539T probably benign Het
Sema3a A G 5: 13,451,161 Y57C probably damaging Het
Susd5 A G 9: 114,096,033 E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 T175A probably damaging Het
Tcf20 T A 15: 82,856,080 Q390L probably damaging Het
Tex15 A G 8: 33,581,693 T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 N36S probably benign Het
Uchl4 C T 9: 64,235,537 T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 K11R probably benign Het
Vps13b T A 15: 35,879,900 D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 Y640* probably null Het
Zkscan17 T G 11: 59,503,526 E83A probably damaging Het
Other mutations in Gh
AlleleSourceChrCoordTypePredicted EffectPPH Score
atto UTSW 11 106301404 nonsense probably null
PIT4576001:Gh UTSW 11 106300833 missense possibly damaging 0.73
R0003:Gh UTSW 11 106301520 missense probably damaging 0.98
R1318:Gh UTSW 11 106301097 missense probably benign 0.02
R2084:Gh UTSW 11 106301132 missense probably damaging 1.00
R2277:Gh UTSW 11 106300787 missense probably damaging 1.00
R2279:Gh UTSW 11 106300787 missense probably damaging 1.00
R6744:Gh UTSW 11 106301404 nonsense probably null
Posted On2015-04-16