Incidental Mutation 'IGL02954:Gng13'
ID365044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gng13
Ensembl Gene ENSMUSG00000025739
Gene Nameguanine nucleotide binding protein (G protein), gamma 13
SynonymsGgamma13
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02954
Quality Score
Status
Chromosome17
Chromosomal Location25717171-25719406 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25718752 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 18 (Y18H)
Ref Sequence ENSEMBL: ENSMUSP00000131648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048054] [ENSMUST00000115108] [ENSMUST00000167940] [ENSMUST00000170575] [ENSMUST00000172002]
Predicted Effect probably benign
Transcript: ENSMUST00000048054
SMART Domains Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214

DomainStartEndE-ValueType
low complexity region 20 30 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
low complexity region 117 130 N/A INTRINSIC
low complexity region 154 168 N/A INTRINSIC
coiled coil region 228 255 N/A INTRINSIC
low complexity region 299 310 N/A INTRINSIC
low complexity region 343 354 N/A INTRINSIC
AAA 361 518 1.99e-11 SMART
low complexity region 646 661 N/A INTRINSIC
Blast:AAA 728 850 7e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000115108
AA Change: Y18H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110760
Gene: ENSMUSG00000025739
AA Change: Y18H

DomainStartEndE-ValueType
G_gamma 3 67 1.32e-16 SMART
GGL 6 67 2.09e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167940
SMART Domains Protein: ENSMUSP00000131349
Gene: ENSMUSG00000019214

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Blast:AAA 21 107 9e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168914
Predicted Effect probably benign
Transcript: ENSMUST00000169767
Predicted Effect probably benign
Transcript: ENSMUST00000170575
SMART Domains Protein: ENSMUSP00000131366
Gene: ENSMUSG00000019214

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
low complexity region 74 85 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 155 169 N/A INTRINSIC
coiled coil region 229 256 N/A INTRINSIC
low complexity region 300 311 N/A INTRINSIC
low complexity region 344 355 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172002
AA Change: Y18H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131648
Gene: ENSMUSG00000025739
AA Change: Y18H

DomainStartEndE-ValueType
G_gamma 3 67 1.32e-16 SMART
GGL 6 67 2.09e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele are infertile and display a progressive reduction in scotopic but not photopic ERG b-waves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,732,341 R908L probably benign Het
Abcc9 T C 6: 142,646,281 N774S probably damaging Het
Alpk2 C T 18: 65,306,136 V729I probably benign Het
Atf3 T C 1: 191,171,655 N125D probably damaging Het
Bcat1 C T 6: 145,019,219 G215D probably damaging Het
Bptf G T 11: 107,054,749 Q2555K possibly damaging Het
Cthrc1 A G 15: 39,076,994 probably benign Het
Cyp2c38 A G 19: 39,391,076 M443T probably damaging Het
D6Wsu163e C T 6: 126,974,478 probably benign Het
Dgkg T A 16: 22,622,253 E3D probably benign Het
Dnah8 G T 17: 30,704,835 R1259L probably benign Het
Dnah9 A G 11: 66,118,967 L698P probably damaging Het
Ebag9 A C 15: 44,630,205 H141P probably benign Het
Emilin2 T C 17: 71,256,531 R840G probably benign Het
Faap100 A T 11: 120,372,131 H800Q probably damaging Het
Fh1 A T 1: 175,609,735 I266N probably damaging Het
Fkbp15 A G 4: 62,321,065 probably benign Het
Gm17334 A G 11: 53,772,828 probably benign Het
Gm5773 G T 3: 93,773,051 W10L probably benign Het
Hivep3 T C 4: 120,133,641 S2113P probably damaging Het
Ift81 A T 5: 122,610,185 probably benign Het
Irak3 A C 10: 120,176,242 L206V probably damaging Het
Kcng4 C T 8: 119,633,053 A195T probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Nars2 T G 7: 97,039,893 probably null Het
Nol8 T C 13: 49,661,172 V234A probably benign Het
Olfr533 A T 7: 140,466,440 K80* probably null Het
Olfr99 T A 17: 37,280,304 N39Y probably damaging Het
Patz1 A G 11: 3,291,761 Y383C probably damaging Het
Pdcd5 T C 7: 35,643,664 Y152C probably damaging Het
Phkg1 A G 5: 129,866,069 W214R probably damaging Het
Plxna1 A G 6: 89,324,667 L1459P probably damaging Het
Pspc1 G A 14: 56,771,760 P206S probably benign Het
St7 A T 6: 17,848,031 N198I probably damaging Het
Supt3 A G 17: 45,038,128 D249G probably damaging Het
Taf1c T C 8: 119,600,486 Y418C probably damaging Het
Tdrd6 A G 17: 43,627,262 V965A possibly damaging Het
Ugt2b35 A G 5: 87,011,321 N458S probably benign Het
Vmn1r8 A G 6: 57,036,330 Y122C probably benign Het
Other mutations in Gng13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0389:Gng13 UTSW 17 25718722 nonsense probably null
Posted On2015-12-18