Incidental Mutation 'IGL00922:Gal'
ID29503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gal
Ensembl Gene ENSMUSG00000024907
Gene Namegalanin
SynonymsGaln
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00922
Quality Score
Status
Chromosome19
Chromosomal Location3409919-3414472 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3411575 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 70 (V70E)
Ref Sequence ENSEMBL: ENSMUSP00000025842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025840] [ENSMUST00000025842] [ENSMUST00000127142] [ENSMUST00000142193]
Predicted Effect probably benign
Transcript: ENSMUST00000025840
SMART Domains Protein: ENSMUSP00000025840
Gene: ENSMUSG00000024905

DomainStartEndE-ValueType
low complexity region 91 99 N/A INTRINSIC
low complexity region 107 123 N/A INTRINSIC
Blast:CXC 246 287 4e-13 BLAST
CXC 332 373 1.37e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025842
AA Change: V70E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000025842
Gene: ENSMUSG00000024907
AA Change: V70E

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
Galanin 20 124 3.41e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127142
SMART Domains Protein: ENSMUSP00000122687
Gene: ENSMUSG00000024905

DomainStartEndE-ValueType
Blast:CXC 67 107 1e-13 BLAST
CXC 152 193 1.37e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142193
SMART Domains Protein: ENSMUSP00000114171
Gene: ENSMUSG00000024905

DomainStartEndE-ValueType
Blast:CXC 67 107 1e-13 BLAST
CXC 152 193 1.37e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a neuroendocrine peptide that is principally produced by a subpopulation of lactotrophs in the pituitary gland. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Mice lacking the encoded protein fail to lactate sufficiently due to abnormalities in the expression of prolactin and lactotroph proliferation, exhibit attenuated chronic neuropathic pain and developmental deficits in the dorsal root ganglion neurons. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature proteins. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in neuroendocrine homeostasis, prolactin release, lactotroph number, mammary gland maturation, lactation, susceptibility to neuronal excitotoxicity and induced seizures, sensory neuron developmentand regeneration, and long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik T C 5: 114,947,177 probably null Het
Atr T A 9: 95,907,345 M1518K probably damaging Het
Baiap2l1 C T 5: 144,318,967 G59D probably damaging Het
BC051019 C A 7: 109,720,676 C60F probably benign Het
Brms1l A G 12: 55,845,326 Y135C probably benign Het
Cachd1 T A 4: 100,966,966 S535T probably benign Het
Ccdc155 T C 7: 45,185,306 E532G possibly damaging Het
Chkb C T 15: 89,422,288 probably null Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cobl T A 11: 12,254,866 D605V probably damaging Het
Ddx54 T A 5: 120,623,810 probably null Het
Dnah6 A T 6: 73,033,526 probably benign Het
Dnaja2 A T 8: 85,555,237 V4E probably damaging Het
Dnajc22 T G 15: 99,101,579 L215R possibly damaging Het
Drc7 G A 8: 95,077,978 V874I probably benign Het
Foxa2 A C 2: 148,044,818 S26A possibly damaging Het
Gjb4 T C 4: 127,351,353 Y265C probably benign Het
Hc A G 2: 34,991,668 S1423P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Map3k6 C T 4: 133,243,044 probably benign Het
Matn1 A T 4: 130,952,974 Q454L probably benign Het
Mlxip A T 5: 123,440,065 N148I probably damaging Het
Mre11a T C 9: 14,799,588 F193L probably damaging Het
Myo1h T C 5: 114,360,485 Y881H probably damaging Het
Nphp4 C T 4: 152,537,309 probably benign Het
Olfr803 T G 10: 129,691,454 I196L probably benign Het
Ptpn13 T A 5: 103,588,088 V2151D probably damaging Het
Rnf141 T C 7: 110,833,734 probably benign Het
Rpe65 A C 3: 159,614,542 D277A probably damaging Het
Sec14l1 C T 11: 117,153,229 T521M possibly damaging Het
Slc25a30 A T 14: 75,769,598 Y153N probably damaging Het
Slc6a12 C T 6: 121,360,455 A366V probably damaging Het
Trp53bp1 T A 2: 121,208,482 T1367S probably damaging Het
Vmn2r71 T G 7: 85,618,693 S118R probably benign Het
Other mutations in Gal
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0385:Gal UTSW 19 3411171 missense probably benign 0.13
R3605:Gal UTSW 19 3414026 splice site probably null
R4817:Gal UTSW 19 3411126 splice site probably null
R4911:Gal UTSW 19 3411590 missense probably benign 0.15
R5046:Gal UTSW 19 3411167 missense probably damaging 0.99
R5921:Gal UTSW 19 3410100 missense probably damaging 0.99
R6660:Gal UTSW 19 3410108 missense possibly damaging 0.52
R7658:Gal UTSW 19 3413309 missense probably damaging 1.00
X0065:Gal UTSW 19 3411181 missense probably benign 0.15
Posted On2013-04-17