Incidental Mutation 'IGL02972:Gna11'
ID 365867
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 # IGL02972
Quality Score
Status
Chromosome 10
Chromosomal Location 81364558-81380996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81369225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 113 (I113V)
Ref Sequence ENSEMBL: ENSMUSP00000043190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043604]
AlphaFold P21278
Predicted Effect probably benign
Transcript: ENSMUST00000043604
AA Change: I113V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043190
Gene: ENSMUSG00000034781
AA Change: I113V

DomainStartEndE-ValueType
G_alpha 19 358 3.09e-208 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146984
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Bmpr1b C T 3: 141,576,519 (GRCm39) D105N probably benign Het
Ces2e A T 8: 105,653,693 (GRCm39) S44C probably damaging Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Chst15 T C 7: 131,870,902 (GRCm39) D211G probably damaging Het
Dpp4 T C 2: 62,182,569 (GRCm39) S571G probably damaging Het
Grm3 T C 5: 9,562,410 (GRCm39) Y480C probably damaging Het
Mccc1 C T 3: 36,039,238 (GRCm39) V252I possibly damaging Het
Nol12 A G 15: 78,824,799 (GRCm39) T209A probably damaging Het
Or2y14 G A 11: 49,404,918 (GRCm39) G151D probably damaging Het
Or52a33 A G 7: 103,289,101 (GRCm39) M82T probably damaging Het
Or7e168 T C 9: 19,720,238 (GRCm39) F208S probably damaging Het
P3h1 C A 4: 119,105,157 (GRCm39) Q712K possibly damaging Het
Per2 T A 1: 91,351,703 (GRCm39) E934D possibly damaging Het
Pfkl T C 10: 77,824,108 (GRCm39) D760G probably benign Het
Piezo2 C A 18: 63,197,856 (GRCm39) probably benign Het
Pkd1l1 C T 11: 8,813,908 (GRCm39) R1481Q probably damaging Het
Plpp3 T C 4: 105,065,989 (GRCm39) V189A possibly damaging Het
Pnpla1 A G 17: 29,105,921 (GRCm39) E592G probably null Het
Prdm2 A T 4: 142,858,736 (GRCm39) M1518K probably benign Het
Rhbdl3 G A 11: 80,222,742 (GRCm39) probably benign Het
Rnf145 C T 11: 44,454,865 (GRCm39) S582F probably benign Het
Rsf1 A G 7: 97,310,533 (GRCm39) D421G probably benign Het
Serac1 A C 17: 6,121,039 (GRCm39) L85* probably null Het
Slc43a1 T G 2: 84,690,462 (GRCm39) V460G probably damaging Het
Slc7a6 G A 8: 106,906,059 (GRCm39) C97Y probably damaging Het
Slco5a1 A T 1: 13,060,379 (GRCm39) L114* probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taok1 A G 11: 77,450,584 (GRCm39) V396A probably benign Het
Tmem232 T A 17: 65,783,668 (GRCm39) H233L probably benign Het
Tmprss11c C T 5: 86,385,692 (GRCm39) S247N possibly damaging Het
Tnc C T 4: 63,894,715 (GRCm39) S1557N probably benign Het
Txlng A G X: 161,590,551 (GRCm39) M94T probably damaging Het
Ube2b A T 11: 51,879,509 (GRCm39) I87K probably damaging Het
Ubr5 A T 15: 38,042,196 (GRCm39) S133R probably damaging Het
Ugt1a5 C T 1: 88,094,144 (GRCm39) T124I probably benign Het
Vamp1 G T 6: 125,196,610 (GRCm39) R117L probably benign Het
Vmn1r87 G T 7: 12,866,256 (GRCm39) Y10* probably null Het
Zan G A 5: 137,461,948 (GRCm39) T1077I unknown Het
Zc2hc1b C A 10: 13,047,025 (GRCm39) V29F probably damaging Het
Zfp597 T C 16: 3,684,387 (GRCm39) D123G probably benign Het
Other mutations in Gna11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Gna11 APN 10 81,366,718 (GRCm39) missense probably damaging 1.00
IGL03290:Gna11 APN 10 81,366,771 (GRCm39) missense probably damaging 1.00
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 2015-12-18