Incidental Mutation 'IGL03290:Gna11'
ID 415861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gna11
Ensembl Gene ENSMUSG00000034781
Gene Name guanine nucleotide binding protein, alpha 11
Synonyms Dsk7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03290
Quality Score
Status
Chromosome 10
Chromosomal Location 81364558-81380996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81366771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 313 (F313S)
Ref Sequence ENSEMBL: ENSMUSP00000043190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043604]
AlphaFold P21278
Predicted Effect probably damaging
Transcript: ENSMUST00000043604
AA Change: F313S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043190
Gene: ENSMUSG00000034781
AA Change: F313S

DomainStartEndE-ValueType
G_alpha 19 358 3.09e-208 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218454
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 belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice deficient for this gene do not exhibit any detectable abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,302,646 (GRCm39) probably benign Het
Asb18 A G 1: 89,942,296 (GRCm39) S2P probably damaging Het
Atp2b2 A G 6: 113,770,715 (GRCm39) F398S probably damaging Het
BC034090 T G 1: 155,101,856 (GRCm39) D136A probably damaging Het
Ces5a A C 8: 94,246,260 (GRCm39) F310V probably damaging Het
Chsy1 T C 7: 65,820,779 (GRCm39) V338A probably benign Het
Dbh A G 2: 27,064,944 (GRCm39) E385G probably damaging Het
Dnah14 T A 1: 181,591,543 (GRCm39) probably benign Het
F2rl1 A G 13: 95,650,097 (GRCm39) S262P possibly damaging Het
Fat2 T C 11: 55,147,045 (GRCm39) N3984D probably benign Het
Fbxo38 A T 18: 62,659,234 (GRCm39) H354Q probably benign Het
Fgf6 T A 6: 127,001,095 (GRCm39) V201D probably damaging Het
Gm16181 A T 17: 35,442,933 (GRCm39) probably benign Het
Gm6811 T C 17: 21,314,311 (GRCm39) noncoding transcript Het
Gprc6a C T 10: 51,491,968 (GRCm39) A523T probably damaging Het
Il22 T C 10: 118,041,785 (GRCm39) probably null Het
Insr T C 8: 3,308,574 (GRCm39) Y154C probably damaging Het
Irak4 T A 15: 94,449,780 (GRCm39) D86E probably benign Het
Itk C A 11: 46,225,764 (GRCm39) W529L probably damaging Het
Klhl6 C A 16: 19,765,887 (GRCm39) A572S probably benign Het
Ldhc C T 7: 46,519,112 (GRCm39) R112C probably damaging Het
Lrrc56 T C 7: 140,779,685 (GRCm39) probably benign Het
Mdh2 A G 5: 135,818,567 (GRCm39) E274G probably damaging Het
N4bp1 G T 8: 87,575,161 (GRCm39) D711E probably benign Het
Ngly1 T A 14: 16,281,866 (GRCm38) I248K probably damaging Het
Or2ab1 A G 11: 58,489,149 (GRCm39) N309S probably damaging Het
Or7e176 T C 9: 20,171,556 (GRCm39) I140T probably damaging Het
Pbrm1 A G 14: 30,829,241 (GRCm39) E1421G probably damaging Het
Pcca G A 14: 122,822,518 (GRCm39) R112H possibly damaging Het
Pgrmc2 T C 3: 41,023,061 (GRCm39) probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Pogz A T 3: 94,782,402 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,754,771 (GRCm39) Y159H probably damaging Het
Rax T C 18: 66,071,231 (GRCm39) K135E probably damaging Het
Rbm7 T A 9: 48,401,267 (GRCm39) M154L probably benign Het
Rp1 A G 1: 4,420,264 (GRCm39) S283P probably damaging Het
Rpusd4 T C 9: 35,179,273 (GRCm39) S30P probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Sfxn4 A G 19: 60,848,508 (GRCm39) W22R probably damaging Het
Sh3pxd2a T A 19: 47,412,955 (GRCm39) R43W probably damaging Het
Smc5 A G 19: 23,251,022 (GRCm39) V54A probably benign Het
Snap47 A G 11: 59,319,424 (GRCm39) I238T probably damaging Het
Tecpr2 T G 12: 110,934,267 (GRCm39) I1309S possibly damaging Het
Trappc8 A G 18: 20,953,992 (GRCm39) L1310P probably damaging Het
Vmn2r61 T A 7: 41,915,408 (GRCm39) H118Q probably benign Het
Zbtb17 C T 4: 141,194,244 (GRCm39) T731I probably damaging Het
Zfp287 A G 11: 62,606,062 (GRCm39) F282L probably damaging Het
Other mutations in Gna11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Gna11 APN 10 81,366,718 (GRCm39) missense probably damaging 1.00
IGL02972:Gna11 APN 10 81,369,225 (GRCm39) missense probably benign
Knapweed UTSW 10 81,366,715 (GRCm39) missense
R0057:Gna11 UTSW 10 81,366,774 (GRCm39) missense probably benign 0.19
R0057:Gna11 UTSW 10 81,366,774 (GRCm39) missense probably benign 0.19
R0417:Gna11 UTSW 10 81,366,738 (GRCm39) missense probably damaging 1.00
R1542:Gna11 UTSW 10 81,369,162 (GRCm39) missense probably benign
R1957:Gna11 UTSW 10 81,366,678 (GRCm39) missense probably damaging 1.00
R5180:Gna11 UTSW 10 81,380,707 (GRCm39) missense probably benign 0.01
R5534:Gna11 UTSW 10 81,366,967 (GRCm39) missense probably damaging 1.00
R5967:Gna11 UTSW 10 81,366,643 (GRCm39) missense probably benign 0.11
R6445:Gna11 UTSW 10 81,369,167 (GRCm39) missense probably damaging 1.00
R6523:Gna11 UTSW 10 81,380,688 (GRCm39) missense probably damaging 1.00
R7450:Gna11 UTSW 10 81,368,356 (GRCm39) missense
R7556:Gna11 UTSW 10 81,367,208 (GRCm39) missense
R9076:Gna11 UTSW 10 81,366,715 (GRCm39) missense
R9180:Gna11 UTSW 10 81,370,942 (GRCm39) missense
R9660:Gna11 UTSW 10 81,370,918 (GRCm39) missense probably benign 0.06
Posted On 2016-08-02