Incidental Mutation 'IGL03054:Gng7'
ID409178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gng7
Ensembl Gene ENSMUSG00000048240
Gene Nameguanine nucleotide binding protein (G protein), gamma 7
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03054 (G1)
Quality Score
Status
Chromosome10
Chromosomal Location80948624-81014945 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 80951651 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 59 (F59L)
Ref Sequence ENSEMBL: ENSMUSP00000113798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092285] [ENSMUST00000099462] [ENSMUST00000117805] [ENSMUST00000118233] [ENSMUST00000118465] [ENSMUST00000126317]
Predicted Effect probably damaging
Transcript: ENSMUST00000092285
AA Change: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089936
Gene: ENSMUSG00000048240
AA Change: F60L

DomainStartEndE-ValueType
G_gamma 5 69 2.33e-26 SMART
GGL 8 69 5.94e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099462
AA Change: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097061
Gene: ENSMUSG00000048240
AA Change: F60L

DomainStartEndE-ValueType
G_gamma 5 69 2.33e-26 SMART
GGL 8 69 5.94e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117805
AA Change: F59L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112409
Gene: ENSMUSG00000048240
AA Change: F59L

DomainStartEndE-ValueType
G_gamma 4 68 2.33e-26 SMART
GGL 7 68 5.94e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118233
AA Change: F59L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114003
Gene: ENSMUSG00000048240
AA Change: F59L

DomainStartEndE-ValueType
G_gamma 4 68 2.33e-26 SMART
GGL 7 68 5.94e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118465
AA Change: F59L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113798
Gene: ENSMUSG00000048240
AA Change: F59L

DomainStartEndE-ValueType
G_gamma 4 68 2.33e-26 SMART
GGL 7 68 5.94e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121817
Predicted Effect probably benign
Transcript: ENSMUST00000126317
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (43/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit an enhanced startle response, loss of dopamine- and forskolin-stimulated adenylyl cyclase activity in the striatum, and increased mean insulin levels in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A G 17: 56,886,528 T625A possibly damaging Het
4933416I08Rik TCC TCCC X: 53,690,895 noncoding transcript Het
Aloxe3 T C 11: 69,129,607 V159A possibly damaging Het
Atp13a2 T A 4: 141,006,968 C1134S possibly damaging Het
Ccdc40 G A 11: 119,263,201 E1100K possibly damaging Het
Ceacam5 A T 7: 17,759,454 T801S possibly damaging Het
Cilp TGGG TGG 9: 65,280,130 probably null Het
Col4a2 T C 8: 11,448,270 I1693T probably damaging Het
Crb1 CG C 1: 139,237,086 probably null Het
Dab2 G T 15: 6,418,226 probably benign Het
Dao T C 5: 114,024,902 L345P probably damaging Het
Dis3l A G 9: 64,310,440 probably null Het
Egr3 C T 14: 70,079,112 T124M probably damaging Het
Itgb4 C A 11: 116,000,340 Y1190* probably null Het
Lacc1 T C 14: 77,030,915 M319V possibly damaging Het
Mapkbp1 A G 2: 120,015,400 T417A probably damaging Het
Mier3 C T 13: 111,686,314 probably benign Het
Mlxipl A G 5: 135,133,256 D569G possibly damaging Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Mrpl15 A G 1: 4,785,571 probably null Het
Neb T C 2: 52,271,322 N2153D probably damaging Het
Nlrp9c A G 7: 26,382,276 probably null Het
Npepps C T 11: 97,241,788 probably benign Het
Olfr338 A T 2: 36,376,932 H52L possibly damaging Het
Olfr45 T G 7: 140,691,710 S268R probably benign Het
Olfr617 C A 7: 103,584,840 H273N probably benign Het
Psmc4 T C 7: 28,047,180 Y160C probably damaging Het
Rims1 T C 1: 22,290,109 Y131C probably damaging Het
Riok1 G A 13: 38,047,315 G183D probably damaging Het
Samd9l T A 6: 3,376,023 I413F probably damaging Het
Tnfrsf22 A G 7: 143,640,795 Y132H probably damaging Het
Ttn T A 2: 76,895,760 probably benign Het
Tulp1 A G 17: 28,359,313 probably benign Het
Usp15 C A 10: 123,125,931 probably benign Het
Wdr7 G T 18: 63,825,121 probably benign Het
Other mutations in Gng7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Gng7 APN 10 80951684 missense probably damaging 1.00
R0854:Gng7 UTSW 10 80951673 missense possibly damaging 0.71
Posted On2016-08-02