Incidental Mutation 'R2844:Gna13'
ID 251448
Institutional Source Beutler Lab
Gene Symbol Gna13
Ensembl Gene ENSMUSG00000020611
Gene Name guanine nucleotide binding protein, alpha 13
Synonyms Galpha13
MMRRC Submission 040437-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2844 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109253657-109292195 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109253951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 51 (I51T)
Ref Sequence ENSEMBL: ENSMUSP00000102313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020930] [ENSMUST00000106702]
AlphaFold P27601
Predicted Effect probably damaging
Transcript: ENSMUST00000020930
AA Change: I51T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020930
Gene: ENSMUSG00000020611
AA Change: I51T

DomainStartEndE-ValueType
G_alpha 28 376 5.28e-193 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000070956
SMART Domains Protein: ENSMUSP00000067889
Gene: ENSMUSG00000056687

DomainStartEndE-ValueType
low complexity region 97 110 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
low complexity region 140 164 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106702
AA Change: I51T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102313
Gene: ENSMUSG00000020611
AA Change: I51T

DomainStartEndE-ValueType
G_alpha 28 173 2.69e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190563
Meta Mutation Damage Score 0.9090 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,843,830 (GRCm39) V175I probably benign Het
Abcb1a A T 5: 8,736,164 (GRCm39) I186F probably benign Het
Afg3l1 T C 8: 124,221,678 (GRCm39) probably benign Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Ccdc50 A G 16: 27,225,479 (GRCm39) E64G probably damaging Het
Celsr3 G T 9: 108,706,507 (GRCm39) G997W probably damaging Het
Chd8 C T 14: 52,441,952 (GRCm39) E2138K possibly damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Dnaaf11 A G 15: 66,319,525 (GRCm39) probably benign Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Fzr1 G T 10: 81,205,252 (GRCm39) T159K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gorab A G 1: 163,224,375 (GRCm39) probably null Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Ints6 A G 14: 62,942,275 (GRCm39) V486A probably damaging Het
Irx2 A G 13: 72,779,709 (GRCm39) K331R probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Med14 A T X: 12,550,235 (GRCm39) H684Q probably benign Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pde5a T C 3: 122,645,357 (GRCm39) L755P probably damaging Het
Pex14 A T 4: 149,047,968 (GRCm39) I203N probably benign Het
Pi4ka T C 16: 17,168,657 (GRCm39) E691G probably damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Pnoc A T 14: 65,642,284 (GRCm39) F160I probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Ppil6 A T 10: 41,377,689 (GRCm39) probably benign Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Psme4 T C 11: 30,795,173 (GRCm39) probably benign Het
Rfx3 T C 19: 27,784,186 (GRCm39) probably benign Het
Rnase11 A G 14: 51,287,227 (GRCm39) L109S probably damaging Het
Rngtt A G 4: 33,368,678 (GRCm39) T404A probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Sema5b A G 16: 35,480,301 (GRCm39) N656S probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Thbs1 C T 2: 117,948,109 (GRCm39) T423I probably benign Het
Ttc17 A T 2: 94,206,419 (GRCm39) Y243* probably null Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp648 A T 1: 154,080,881 (GRCm39) K347* probably null Het
Zfp84 T G 7: 29,474,758 (GRCm39) probably null Het
Other mutations in Gna13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Gna13 APN 11 109,256,569 (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
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'- CAGAAACTCTGGATCCGCAG -3'
(R):5'- GATCTGATCCCGTTCGGTC -3'

Sequencing Primer
(F):5'- AGTCAGTCCTCGGGTTCC -3'
(R):5'- GGTCTCCTCCGACTGGG -3'
Posted On 2014-12-04