Incidental Mutation 'R6525:Gna13'
ID 521741
Institutional Source Beutler Lab
Gene Symbol Gna13
Ensembl Gene ENSMUSG00000020611
Gene Name guanine nucleotide binding protein, alpha 13
Synonyms Galpha13
MMRRC Submission 044651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6525 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109253657-109292195 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109286765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 196 (I196T)
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: I196T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020930
Gene: ENSMUSG00000020611
AA Change: I196T

DomainStartEndE-ValueType
G_alpha 28 376 5.28e-193 SMART
Meta Mutation Damage Score 0.9238 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 96% (71/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,931,308 (GRCm39) E1447G probably benign Het
Acss2 A G 2: 155,392,337 (GRCm39) N261S probably benign Het
Adcy8 C A 15: 64,609,243 (GRCm39) G859* probably null Het
Agbl3 A T 6: 34,780,529 (GRCm39) K496* probably null Het
Antxrl A T 14: 33,782,363 (GRCm39) D182V probably damaging Het
Arid5b A G 10: 67,933,496 (GRCm39) L559P possibly damaging Het
Azi2 T A 9: 117,876,663 (GRCm39) S60T probably damaging Het
Bahcc1 T C 11: 120,176,048 (GRCm39) Y1931H probably damaging Het
Cnga1 T A 5: 72,775,574 (GRCm39) E49V probably damaging Het
Col3a1 A G 1: 45,386,339 (GRCm39) N160D possibly damaging Het
Crem C A 18: 3,268,070 (GRCm39) R267L probably damaging Het
Ddx52 T C 11: 83,844,145 (GRCm39) probably null Het
Ddx6 T C 9: 44,534,926 (GRCm39) I127T probably damaging Het
Dop1b T A 16: 93,606,304 (GRCm39) Y2094N probably damaging Het
Dst C A 1: 34,202,216 (GRCm39) N181K probably damaging Het
Dusp7 A G 9: 106,246,483 (GRCm39) K163E possibly damaging Het
Dynlt1a T A 17: 6,362,014 (GRCm39) T55S probably benign Het
Enpp2 T C 15: 54,733,607 (GRCm39) N451S probably benign Het
Faap100 C A 11: 120,269,590 (GRCm39) probably null Het
Fam53a T C 5: 33,765,262 (GRCm39) N148S probably damaging Het
Fat2 T C 11: 55,174,626 (GRCm39) D2029G probably damaging Het
Flcn A T 11: 59,684,998 (GRCm39) N484K possibly damaging Het
Gbp10 T A 5: 105,383,950 (GRCm39) E17D probably benign Het
Gm14226 T C 2: 154,867,003 (GRCm39) V320A possibly damaging Het
Gorasp1 G T 9: 119,757,061 (GRCm39) P374T possibly damaging Het
Hc T C 2: 34,881,236 (GRCm39) D1461G probably benign Het
Hmcn1 T C 1: 150,573,317 (GRCm39) N2111D probably damaging Het
Hs3st3b1 G A 11: 63,812,424 (GRCm39) S97L probably benign Het
Hsdl2 A G 4: 59,612,696 (GRCm39) T296A probably damaging Het
Impg2 A G 16: 56,025,512 (GRCm39) D48G probably damaging Het
Kbtbd12 A T 6: 88,591,062 (GRCm39) N383K probably benign Het
Kcnj12 T G 11: 60,960,397 (GRCm39) F232V probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Ldhb T C 6: 142,436,191 (GRCm39) D326G probably benign Het
Lrrc49 A G 9: 60,505,432 (GRCm39) L607S probably damaging Het
Ltn1 A G 16: 87,217,074 (GRCm39) S388P probably damaging Het
Mansc4 A G 6: 146,976,645 (GRCm39) S324P probably benign Het
Meltf G A 16: 31,707,717 (GRCm39) W368* probably null Het
Nacad A G 11: 6,552,255 (GRCm39) L312P probably damaging Het
Ndc1 G T 4: 107,225,304 (GRCm39) G7W probably benign Het
Nmral1 T A 16: 4,532,296 (GRCm39) K172* probably null Het
Nol9 G T 4: 152,123,906 (GRCm39) R32L probably damaging Het
Nsun5 A G 5: 135,403,912 (GRCm39) Y296C probably damaging Het
Or4k51 C T 2: 111,585,329 (GRCm39) T245I probably benign Het
Oscp1 A G 4: 125,970,571 (GRCm39) D120G possibly damaging Het
Parp14 C T 16: 35,680,811 (GRCm39) C274Y probably benign Het
Pced1b T A 15: 97,282,679 (GRCm39) H239Q possibly damaging Het
Pgap1 T C 1: 54,521,048 (GRCm39) I865V probably benign Het
Ppp6r3 T A 19: 3,543,936 (GRCm39) S360C probably damaging Het
Prb1a A G 6: 132,184,467 (GRCm39) S389P unknown Het
Prr16 T G 18: 51,436,227 (GRCm39) S235R probably benign Het
Rab11fip1 T C 8: 27,646,527 (GRCm39) N183S probably benign Het
Rcn1 A G 2: 105,219,320 (GRCm39) probably null Het
Rimkla C A 4: 119,325,288 (GRCm39) A374S probably benign Het
Skint8 A T 4: 111,785,935 (GRCm39) D127V probably damaging Het
Slc12a6 A G 2: 112,182,796 (GRCm39) K724E probably damaging Het
Slc13a3 T C 2: 165,248,667 (GRCm39) N537S unknown Het
Slc26a5 T C 5: 22,025,348 (GRCm39) D457G possibly damaging Het
Slx4ip T C 2: 136,842,138 (GRCm39) V21A possibly damaging Het
Stt3b A G 9: 115,087,626 (GRCm39) Y291H probably damaging Het
Syn3 G A 10: 86,302,916 (GRCm39) P80S probably damaging Het
Tasor2 G A 13: 3,626,540 (GRCm39) Q455* probably null Het
Tiam1 A T 16: 89,655,485 (GRCm39) probably null Het
Tjp1 T C 7: 64,993,399 (GRCm39) D58G probably damaging Het
Tmprss15 T A 16: 78,800,266 (GRCm39) I621F probably damaging Het
Tns1 C T 1: 73,992,629 (GRCm39) S683N probably damaging Het
Ttn A G 2: 76,773,436 (GRCm39) L2322P probably damaging Het
Ugdh G T 5: 65,574,402 (GRCm39) H409N probably damaging Het
Vmn2r81 T A 10: 79,129,560 (GRCm39) M817K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zbtb34 A G 2: 33,302,145 (GRCm39) V132A probably damaging Het
Zfp119b A G 17: 56,246,992 (GRCm39) C33R possibly 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
R4094:Gna13 UTSW 11 109,287,242 (GRCm39) missense probably damaging 1.00
R4793:Gna13 UTSW 11 109,254,455 (GRCm39) intron probably benign
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'- ATAACCTAGGAGTGGGCACTG -3'
(R):5'- CCTGGTCAAATTCACTTGAAGAGAC -3'

Sequencing Primer
(F):5'- AGTGTGCCCATCATGGAGC -3'
(R):5'- CAAGGAAAAGTATCGACGTCACACTG -3'
Posted On 2018-06-06