Incidental Mutation 'R4094:Gna13'
ID 317813
Institutional Source Beutler Lab
Gene Symbol Gna13
Ensembl Gene ENSMUSG00000020611
Gene Name guanine nucleotide binding protein, alpha 13
Synonyms Galpha13
MMRRC Submission 041628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4094 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109253657-109292195 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109287242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 355 (I355N)
Ref Sequence ENSEMBL: ENSMUSP00000020930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020930]
AlphaFold P27601
PDB Structure Crystal Structure of the p115RhoGEF rgRGS Domain in A Complex with Galpha(13):Galpha(i1) Chimera [X-RAY DIFFRACTION]
Crystal structure of G alpha 13 in complex with GDP [X-RAY DIFFRACTION]
Crystal structure of p115RhoGEF RGS domain in complex with G alpha 13 [X-RAY DIFFRACTION]
Crystal Structure of PDZRhoGEF rgRGS Domain in a Complex with Galpha-13 Bound to GDP [X-RAY DIFFRACTION]
Crystal Structure of PDZRhoGEF rgRGS Domain in a Complex with Galpha-13 Bound to GDP-AlF4 [X-RAY DIFFRACTION]
Crystal Structure of PDZRhoGEF rgRGS Domain in a Complex with Galpha-13 Bound to GTP-gamma-S [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000020930
AA Change: I355N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020930
Gene: ENSMUSG00000020611
AA Change: I355N

DomainStartEndE-ValueType
G_alpha 28 376 5.28e-193 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null or with an endothelial specific conditional mutation fail to develop an organized vascular system in the yolk sac, show impaired vascular development in some vascular beds in the embryo proper, and die during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,071,192 (GRCm39) C1500R probably damaging Het
Amz1 A T 5: 140,737,921 (GRCm39) M93L probably damaging Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Bsn A C 9: 107,991,069 (GRCm39) V1561G probably damaging Het
Cadm2 A T 16: 66,679,685 (GRCm39) N49K probably damaging Het
Cct8 T G 16: 87,284,516 (GRCm39) I283L possibly damaging Het
Cdc25b A G 2: 131,031,037 (GRCm39) M121V probably benign Het
Cpne4 A G 9: 104,563,734 (GRCm39) D37G probably damaging Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
Dhx35 T A 2: 158,684,276 (GRCm39) I517N probably damaging Het
Ehf T C 2: 103,121,095 (GRCm39) probably benign Het
Erp29 A G 5: 121,590,345 (GRCm39) probably benign Het
Fgd6 C A 10: 93,879,296 (GRCm39) P50Q probably damaging Het
Fhip1b T C 7: 105,037,425 (GRCm39) D386G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Frmd4a A G 2: 4,615,843 (GRCm39) Y1031C probably damaging Het
Hgs T A 11: 120,359,859 (GRCm39) L21* probably null Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Itga2 T C 13: 115,007,161 (GRCm39) D389G probably benign Het
Kdm1b T C 13: 47,216,496 (GRCm39) C289R probably damaging Het
Kdm4c T A 4: 74,229,915 (GRCm39) D237E probably benign Het
Lilrb4b A T 10: 51,357,506 (GRCm39) E114V probably damaging Het
Loxl1 G A 9: 58,219,739 (GRCm39) T144I probably damaging Het
Macf1 C T 4: 123,353,062 (GRCm39) R1784Q probably benign Het
Maml2 G A 9: 13,531,449 (GRCm39) S221N probably benign Het
Map3k1 A G 13: 111,892,696 (GRCm39) M853T possibly damaging Het
Micu3 T G 8: 40,788,929 (GRCm39) S147A probably null Het
Nccrp1 T C 7: 28,243,651 (GRCm39) Y261C possibly damaging Het
Or51aa5 T A 7: 103,167,244 (GRCm39) I116F possibly damaging Het
Or5m5 A G 2: 85,814,562 (GRCm39) Y126C probably damaging Het
Or8k18 T C 2: 86,085,674 (GRCm39) D121G probably damaging Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Pclo C A 5: 14,905,659 (GRCm39) T4963N unknown Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Plcg1 A G 2: 160,589,761 (GRCm39) E95G probably damaging Het
Ppargc1a T C 5: 51,647,406 (GRCm39) N276S possibly damaging Het
Prr12 A G 7: 44,697,371 (GRCm39) L848P unknown Het
Ptcd2 A G 13: 99,468,957 (GRCm39) I202T probably damaging Het
Rab27a A C 9: 72,982,826 (GRCm39) I44L probably damaging Het
Rbfox2 A T 15: 77,016,925 (GRCm39) S82T probably damaging Het
Rsbn1 T A 3: 103,835,974 (GRCm39) F337L probably damaging Het
Samd8 T C 14: 21,843,113 (GRCm39) I414T probably damaging Het
Sema3e A G 5: 14,283,704 (GRCm39) I478V probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc2a3 A T 6: 122,712,527 (GRCm39) I239N probably benign Het
Spc25 G A 2: 69,032,975 (GRCm39) S50L probably damaging Het
St8sia4 A T 1: 95,555,411 (GRCm39) S206R possibly damaging Het
Syngr3 G A 17: 24,908,817 (GRCm39) probably benign Het
Tigd4 A G 3: 84,501,947 (GRCm39) D288G probably damaging Het
Trim34b A G 7: 103,983,795 (GRCm39) M251V probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ttn T C 2: 76,730,860 (GRCm39) probably benign Het
Vmp1 A G 11: 86,534,406 (GRCm39) I167T probably benign Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S probably damaging Het
Zscan4f A T 7: 11,135,185 (GRCm39) N197I probably damaging Het
Other mutations in Gna13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Gna13 APN 11 109,256,569 (GRCm39) missense probably damaging 1.00
R2844:Gna13 UTSW 11 109,253,951 (GRCm39) missense probably damaging 1.00
R4009:Gna13 UTSW 11 109,286,843 (GRCm39) missense probably damaging 1.00
R4793:Gna13 UTSW 11 109,254,455 (GRCm39) intron probably benign
R6525:Gna13 UTSW 11 109,286,765 (GRCm39) missense probably damaging 1.00
R6867:Gna13 UTSW 11 109,286,948 (GRCm39) missense possibly damaging 0.84
R8243:Gna13 UTSW 11 109,287,239 (GRCm39) missense probably damaging 1.00
RF021:Gna13 UTSW 11 109,283,218 (GRCm39) missense probably benign
Z1177:Gna13 UTSW 11 109,287,028 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCTCGAGGAGAAAGTGC -3'
(R):5'- GGCCACAGATGAACTAAGTTCTC -3'

Sequencing Primer
(F):5'- GTGCAAGTTGTTAGCATCAAAGAC -3'
(R):5'- CACAACTGAGATTCTTCTAACTGCTG -3'
Posted On 2015-05-15