Incidental Mutation 'R4469:Rabggta'
ID 329337
Institutional Source Beutler Lab
Gene Symbol Rabggta
Ensembl Gene ENSMUSG00000040472
Gene Name Rab geranylgeranyl transferase, a subunit
Synonyms
MMRRC Submission 041726-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R4469 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55953321-55959720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55953944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 266 (V266A)
Ref Sequence ENSEMBL: ENSMUSP00000061498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002389] [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000168729] [ENSMUST00000169237] [ENSMUST00000178034] [ENSMUST00000227061] [ENSMUST00000227958] [ENSMUST00000226907] [ENSMUST00000228123]
AlphaFold Q9JHK4
Predicted Effect probably benign
Transcript: ENSMUST00000002389
SMART Domains Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218

DomainStartEndE-ValueType
low complexity region 13 45 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
low complexity region 65 95 N/A INTRINSIC
Pfam:Transglut_N 109 228 5.5e-35 PFAM
TGc 368 461 1.7e-43 SMART
low complexity region 550 561 N/A INTRINSIC
Pfam:Transglut_C 578 682 1.5e-22 PFAM
Pfam:Transglut_C 690 787 1e-20 PFAM
low complexity region 788 804 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062861
AA Change: V266A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
AA Change: V266A

DomainStartEndE-ValueType
Pfam:PPTA 47 77 2.9e-8 PFAM
Pfam:PPTA 91 121 2e-12 PFAM
Pfam:PPTA 127 156 7.6e-11 PFAM
Pfam:PPTA 162 192 3.8e-12 PFAM
Pfam:PPTA 210 240 7.8e-12 PFAM
Pfam:RabGGT_insert 243 346 5.3e-47 PFAM
LRR 462 485 1.62e0 SMART
LRR 507 531 1.03e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163889
AA Change: V536A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: V536A

DomainStartEndE-ValueType
Pfam:PPTA 47 77 2.9e-8 PFAM
Pfam:PPTA 91 121 2e-12 PFAM
Pfam:PPTA 127 156 7.6e-11 PFAM
Pfam:PPTA 162 192 3.8e-12 PFAM
Pfam:PPTA 210 240 7.8e-12 PFAM
Pfam:RabGGT_insert 243 346 5.3e-47 PFAM
LRR 462 485 1.62e0 SMART
LRR 507 531 1.03e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168729
SMART Domains Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218

DomainStartEndE-ValueType
low complexity region 13 45 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
low complexity region 65 95 N/A INTRINSIC
Pfam:Transglut_N 109 228 5.5e-35 PFAM
TGc 368 461 1.7e-43 SMART
low complexity region 550 561 N/A INTRINSIC
Pfam:Transglut_C 578 682 1.5e-22 PFAM
Pfam:Transglut_C 690 787 1e-20 PFAM
low complexity region 788 804 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169237
AA Change: V536A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: V536A

DomainStartEndE-ValueType
Pfam:PPTA 92 119 3.6e-12 PFAM
Pfam:PPTA 128 154 1.2e-10 PFAM
Pfam:PPTA 163 190 2e-11 PFAM
Pfam:PPTA 211 238 9e-12 PFAM
Pfam:RabGGT_insert 244 346 1.9e-46 PFAM
LRR 462 485 1.62e0 SMART
LRR 507 531 1.03e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178034
SMART Domains Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218

DomainStartEndE-ValueType
low complexity region 13 45 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
low complexity region 65 95 N/A INTRINSIC
Pfam:Transglut_N 110 226 1.2e-32 PFAM
TGc 368 461 1.7e-43 SMART
low complexity region 550 561 N/A INTRINSIC
Pfam:Transglut_C 578 682 3.6e-24 PFAM
Pfam:Transglut_C 690 787 1.3e-20 PFAM
low complexity region 788 804 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227061
AA Change: V536A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226209
Predicted Effect probably benign
Transcript: ENSMUST00000226907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227132
Predicted Effect probably benign
Transcript: ENSMUST00000228123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228899
Meta Mutation Damage Score 0.0748 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (52/52)
MGI Phenotype PHENOTYPE: Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,345 (GRCm39) K196E probably damaging Het
Ackr1 T C 1: 173,160,112 (GRCm39) probably null Het
Adgra1 C T 7: 139,455,977 (GRCm39) T535I probably damaging Het
Ankrd11 A G 8: 123,623,326 (GRCm39) Y310H probably damaging Het
Arhgef5 T C 6: 43,252,033 (GRCm39) I928T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asb4 C A 6: 5,423,409 (GRCm39) F185L probably benign Het
Ces2g A T 8: 105,692,602 (GRCm39) I301F probably benign Het
Chd1 T C 17: 15,980,657 (GRCm39) I1308T probably damaging Het
Cntnap4 A T 8: 113,391,898 (GRCm39) N121I probably damaging Het
Csf1 C T 3: 107,657,997 (GRCm39) probably null Het
Dnah7a T A 1: 53,483,685 (GRCm39) H3364L probably benign Het
Dnmt3c A G 2: 153,562,280 (GRCm39) T555A possibly damaging Het
Dst A G 1: 34,230,923 (GRCm39) T3017A probably benign Het
Efcab7 A G 4: 99,766,901 (GRCm39) D482G possibly damaging Het
Fbxl5 A G 5: 43,925,528 (GRCm39) V154A probably damaging Het
Flt3 T C 5: 147,312,454 (GRCm39) silent Het
G6pd2 A T 5: 61,966,288 (GRCm39) Y21F probably benign Het
Gm9376 C T 14: 118,505,011 (GRCm39) P148S probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Gtpbp2 A G 17: 46,472,239 (GRCm39) Y58C probably damaging Het
Hcrtr2 T A 9: 76,137,838 (GRCm39) T426S probably benign Het
Herc3 T A 6: 58,853,794 (GRCm39) Y613* probably null Het
Hsd17b1 A T 11: 100,970,838 (GRCm39) M265L probably benign Het
Ier3ip1 A G 18: 77,028,294 (GRCm39) probably benign Het
Kif11 A G 19: 37,404,940 (GRCm39) M924V probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lancl2 T A 6: 57,690,019 (GRCm39) L75H probably damaging Het
Mfsd4b1 T C 10: 39,888,091 (GRCm39) probably benign Het
Nlrc5 A T 8: 95,247,467 (GRCm39) I1588F probably damaging Het
Nostrin C G 2: 69,006,061 (GRCm39) I248M probably damaging Het
Or12d14-ps1 A G 17: 37,673,528 (GRCm39) I170M possibly damaging Het
Or14j1 T C 17: 38,146,607 (GRCm39) L239P probably benign Het
Qng1 A G 13: 58,530,239 (GRCm39) L257P probably damaging Het
Ror2 G A 13: 53,286,016 (GRCm39) T66M possibly damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Skp1 C T 11: 52,135,905 (GRCm39) T138I probably benign Het
Smad9 T C 3: 54,690,182 (GRCm39) V134A probably damaging Het
Snx29 T A 16: 11,238,565 (GRCm39) probably null Het
Sos1 A G 17: 80,761,240 (GRCm39) I152T probably damaging Het
Ssbp2 G A 13: 91,842,175 (GRCm39) G302D probably damaging Het
Stom T C 2: 35,211,545 (GRCm39) N159D possibly damaging Het
Trav16d-dv11 A G 14: 53,285,035 (GRCm39) K37R probably benign Het
Trim75 A G 8: 65,436,369 (GRCm39) V27A probably damaging Het
Ttn T C 2: 76,548,105 (GRCm39) T32066A probably damaging Het
Txndc11 T C 16: 10,893,087 (GRCm39) H881R probably benign Het
Ubp1 C T 9: 113,787,775 (GRCm39) T222I probably benign Het
Unc5cl C G 17: 48,766,833 (GRCm39) P69R possibly damaging Het
Zfp616 T A 11: 73,961,950 (GRCm39) C24S probably damaging Het
Other mutations in Rabggta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Rabggta APN 14 55,956,128 (GRCm39) missense probably damaging 0.98
IGL02263:Rabggta APN 14 55,956,418 (GRCm39) splice site probably benign
IGL02293:Rabggta APN 14 55,959,153 (GRCm39) missense probably benign 0.27
IGL02377:Rabggta APN 14 55,955,952 (GRCm39) missense possibly damaging 0.66
IGL02901:Rabggta APN 14 55,959,138 (GRCm39) missense probably benign 0.41
IGL03004:Rabggta APN 14 55,956,687 (GRCm39) splice site probably benign
R0334:Rabggta UTSW 14 55,958,268 (GRCm39) missense probably damaging 1.00
R1914:Rabggta UTSW 14 55,958,646 (GRCm39) missense possibly damaging 0.73
R2926:Rabggta UTSW 14 55,956,747 (GRCm39) missense probably benign 0.00
R5584:Rabggta UTSW 14 55,958,289 (GRCm39) missense probably benign
R6721:Rabggta UTSW 14 55,954,660 (GRCm39) missense probably damaging 1.00
R6960:Rabggta UTSW 14 55,959,299 (GRCm39) critical splice donor site probably null
R7169:Rabggta UTSW 14 55,958,358 (GRCm39) missense probably damaging 0.99
R7447:Rabggta UTSW 14 55,956,773 (GRCm39) missense probably null 0.11
R7805:Rabggta UTSW 14 55,956,969 (GRCm39) missense probably benign 0.00
R8038:Rabggta UTSW 14 55,956,387 (GRCm39) missense probably benign 0.07
R8422:Rabggta UTSW 14 55,955,915 (GRCm39) missense probably benign 0.21
R9008:Rabggta UTSW 14 55,955,913 (GRCm39) missense probably damaging 1.00
R9018:Rabggta UTSW 14 55,957,880 (GRCm39) missense probably damaging 1.00
R9050:Rabggta UTSW 14 55,959,056 (GRCm39) missense probably benign 0.18
R9232:Rabggta UTSW 14 55,956,745 (GRCm39) missense probably benign 0.01
R9301:Rabggta UTSW 14 55,957,083 (GRCm39) missense probably benign
R9664:Rabggta UTSW 14 55,956,375 (GRCm39) nonsense probably null
R9782:Rabggta UTSW 14 55,955,944 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TTCCAAAATGCACAGTGGTGG -3'
(R):5'- GGCATTCTACAGTCTGTAAGAAACC -3'

Sequencing Primer
(F):5'- CAGCAGTAATGGTAGCTTGGC -3'
(R):5'- GTCTGTAAGAAACCATCAGACTTGC -3'
Posted On 2015-07-21