Incidental Mutation 'IGL03290:Gna11'
ID415861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gna11
Ensembl Gene ENSMUSG00000034781
Gene Nameguanine nucleotide binding protein, alpha 11
SynonymsDsk7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03290
Quality Score
Status
Chromosome10
Chromosomal Location81528724-81545190 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81530937 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 313 (F313S)
Ref Sequence ENSEMBL: ENSMUSP00000043190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043604]
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: 119,703,423 probably benign Het
Asb18 A G 1: 90,014,574 S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 F398S probably damaging Het
BC034090 T G 1: 155,226,110 D136A probably damaging Het
Ces5a A C 8: 93,519,632 F310V probably damaging Het
Chsy1 T C 7: 66,171,031 V338A probably benign Het
Dbh A G 2: 27,174,932 E385G probably damaging Het
Dnah14 T A 1: 181,763,978 probably benign Het
F2rl1 A G 13: 95,513,589 S262P possibly damaging Het
Fat2 T C 11: 55,256,219 N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 H354Q probably benign Het
Fgf6 T A 6: 127,024,132 V201D probably damaging Het
Gm16181 A T 17: 35,223,957 probably benign Het
Gm6811 T C 17: 21,094,049 noncoding transcript Het
Gprc6a C T 10: 51,615,872 A523T probably damaging Het
Il22 T C 10: 118,205,880 probably null Het
Insr T C 8: 3,258,574 Y154C probably damaging Het
Irak4 T A 15: 94,551,899 D86E probably benign Het
Itk C A 11: 46,334,937 W529L probably damaging Het
Klhl6 C A 16: 19,947,137 A572S probably benign Het
Ldhc C T 7: 46,869,688 R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 probably benign Het
Mdh2 A G 5: 135,789,713 E274G probably damaging Het
N4bp1 G T 8: 86,848,533 D711E probably benign Het
Ngly1 T A 14: 16,281,866 I248K probably damaging Het
Olfr324 A G 11: 58,598,323 N309S probably damaging Het
Olfr872 T C 9: 20,260,260 I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 E1421G probably damaging Het
Pcca G A 14: 122,585,106 R112H possibly damaging Het
Pgrmc2 T C 3: 41,068,626 probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Pogz A T 3: 94,875,091 probably benign Het
Ppp1r3a A G 6: 14,754,772 Y159H probably damaging Het
Rax T C 18: 65,938,160 K135E probably damaging Het
Rbm7 T A 9: 48,489,967 M154L probably benign Het
Rp1 A G 1: 4,350,041 S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 S30P probably benign Het
Samd13 T C 3: 146,646,315 T75A probably benign Het
Sfxn4 A G 19: 60,860,070 W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 R43W probably damaging Het
Smc5 A G 19: 23,273,658 V54A probably benign Het
Snap47 A G 11: 59,428,598 I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 T731I probably damaging Het
Zfp287 A G 11: 62,715,236 F282L probably damaging Het
Other mutations in Gna11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Gna11 APN 10 81530884 missense probably damaging 1.00
IGL02972:Gna11 APN 10 81533391 missense probably benign
R0057:Gna11 UTSW 10 81530940 missense probably benign 0.19
R0057:Gna11 UTSW 10 81530940 missense probably benign 0.19
R0417:Gna11 UTSW 10 81530904 missense probably damaging 1.00
R1542:Gna11 UTSW 10 81533328 missense probably benign
R1957:Gna11 UTSW 10 81530844 missense probably damaging 1.00
R5180:Gna11 UTSW 10 81544873 missense probably benign 0.01
R5534:Gna11 UTSW 10 81531133 missense probably damaging 1.00
R5967:Gna11 UTSW 10 81530809 missense probably benign 0.11
R6445:Gna11 UTSW 10 81533333 missense probably damaging 1.00
R6523:Gna11 UTSW 10 81544854 missense probably damaging 1.00
R7450:Gna11 UTSW 10 81532522 missense
R7556:Gna11 UTSW 10 81531374 missense
Posted On2016-08-02