Incidental Mutation 'R5758:Tubgcp5'
ID 501386
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 043203-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R5758 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55468643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 713 (R713C)
Ref Sequence ENSEMBL: ENSMUSP00000146111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect probably damaging
Transcript: ENSMUST00000032627
AA Change: R776C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: R776C

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205779
Predicted Effect probably damaging
Transcript: ENSMUST00000205796
AA Change: R713C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Meta Mutation Damage Score 0.3038 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,264,536 (GRCm39) N2973D probably damaging Het
Acan A T 7: 78,750,962 (GRCm39) E1911V possibly damaging Het
Adamts20 T C 15: 94,292,531 (GRCm39) N193S probably benign Het
Arhgap28 T C 17: 68,180,154 (GRCm39) D81G probably benign Het
Calhm3 A G 19: 47,140,190 (GRCm39) V301A probably damaging Het
Celsr1 C T 15: 85,825,465 (GRCm39) G1556D probably benign Het
Cfap221 A G 1: 119,862,288 (GRCm39) L598P probably benign Het
Col6a6 T C 9: 105,638,717 (GRCm39) probably null Het
Dmxl2 T A 9: 54,380,248 (GRCm39) I142F probably benign Het
Dpy19l4 C T 4: 11,276,886 (GRCm39) V338M probably damaging Het
Dpys A C 15: 39,690,395 (GRCm39) D319E possibly damaging Het
Dsc3 A G 18: 20,122,591 (GRCm39) V111A probably damaging Het
Galnt5 T C 2: 57,888,442 (GRCm39) V14A probably benign Het
Hebp2 C A 10: 18,420,155 (GRCm39) V93L probably damaging Het
Igkv8-21 A T 6: 70,292,009 (GRCm39) S78T possibly damaging Het
Jak2 T A 19: 29,287,043 (GRCm39) D1036E probably damaging Het
Kazn A G 4: 141,868,982 (GRCm39) probably null Het
Kif9 T C 9: 110,318,947 (GRCm39) V143A probably damaging Het
Lhcgr T C 17: 89,049,976 (GRCm39) I517V probably damaging Het
Llgl1 T C 11: 60,599,393 (GRCm39) F458S probably damaging Het
Mrgprb3 C A 7: 48,293,067 (GRCm39) M161I probably benign Het
Muc5b A T 7: 141,412,720 (GRCm39) I1889F unknown Het
Mysm1 A G 4: 94,840,598 (GRCm39) V606A probably damaging Het
Nipal3 T C 4: 135,179,874 (GRCm39) D348G probably benign Het
Olfml2b G A 1: 170,496,833 (GRCm39) probably null Het
Or5p5 T C 7: 107,414,022 (GRCm39) V77A probably damaging Het
Or5p72 T A 7: 108,022,369 (GRCm39) V197D probably benign Het
Orc5 T C 5: 22,734,256 (GRCm39) D176G possibly damaging Het
Rapgef6 A G 11: 54,559,470 (GRCm39) N1041S probably damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Sar1a A G 10: 61,520,851 (GRCm39) Y22C probably benign Het
Shcbp1 T C 8: 4,799,355 (GRCm39) probably null Het
Smim17 C T 7: 6,427,788 (GRCm39) H25Y possibly damaging Het
Tcstv7a T C 13: 120,289,791 (GRCm39) D135G probably damaging Het
Trim10 C T 17: 37,188,044 (GRCm39) T420I possibly damaging Het
Trip13 G T 13: 74,085,614 (GRCm39) S29R probably benign Het
Uckl1 C A 2: 181,211,746 (GRCm39) G420C probably damaging Het
Vangl1 A T 3: 102,091,408 (GRCm39) V226D probably damaging Het
Zdhhc17 A G 10: 110,780,256 (GRCm39) *633Q probably null Het
Zfhx4 A G 3: 5,467,680 (GRCm39) K2613E probably damaging Het
Zfp236 G A 18: 82,689,834 (GRCm39) T215M probably damaging Het
Zfp563 A G 17: 33,323,894 (GRCm39) H163R probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Tubgcp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Tubgcp5 APN 7 55,456,343 (GRCm39) missense possibly damaging 0.91
IGL01291:Tubgcp5 APN 7 55,458,277 (GRCm39) missense possibly damaging 0.83
IGL01343:Tubgcp5 APN 7 55,445,779 (GRCm39) splice site probably benign
IGL01597:Tubgcp5 APN 7 55,456,580 (GRCm39) splice site probably benign
IGL01688:Tubgcp5 APN 7 55,464,766 (GRCm39) missense possibly damaging 0.92
IGL01843:Tubgcp5 APN 7 55,449,221 (GRCm39) missense probably benign 0.02
IGL01950:Tubgcp5 APN 7 55,455,836 (GRCm39) missense possibly damaging 0.93
IGL01957:Tubgcp5 APN 7 55,468,505 (GRCm39) missense probably damaging 1.00
IGL02902:Tubgcp5 APN 7 55,456,355 (GRCm39) nonsense probably null
IGL03105:Tubgcp5 APN 7 55,475,329 (GRCm39) missense probably damaging 1.00
ANU05:Tubgcp5 UTSW 7 55,458,277 (GRCm39) missense possibly damaging 0.83
R0078:Tubgcp5 UTSW 7 55,468,643 (GRCm39) missense probably damaging 1.00
R0322:Tubgcp5 UTSW 7 55,464,726 (GRCm39) missense probably damaging 0.98
R0362:Tubgcp5 UTSW 7 55,450,432 (GRCm39) missense probably damaging 1.00
R0449:Tubgcp5 UTSW 7 55,473,315 (GRCm39) missense probably benign
R0488:Tubgcp5 UTSW 7 55,479,086 (GRCm39) missense probably damaging 0.96
R0853:Tubgcp5 UTSW 7 55,464,599 (GRCm39) splice site probably benign
R0885:Tubgcp5 UTSW 7 55,455,803 (GRCm39) nonsense probably null
R1483:Tubgcp5 UTSW 7 55,475,455 (GRCm39) critical splice donor site probably null
R1746:Tubgcp5 UTSW 7 55,458,285 (GRCm39) missense probably benign 0.05
R1766:Tubgcp5 UTSW 7 55,464,768 (GRCm39) missense probably benign 0.15
R2148:Tubgcp5 UTSW 7 55,449,259 (GRCm39) missense probably damaging 1.00
R2229:Tubgcp5 UTSW 7 55,480,629 (GRCm39) missense probably damaging 1.00
R3766:Tubgcp5 UTSW 7 55,480,614 (GRCm39) missense probably damaging 0.98
R4154:Tubgcp5 UTSW 7 55,455,077 (GRCm39) missense probably benign 0.01
R4838:Tubgcp5 UTSW 7 55,443,933 (GRCm39) unclassified probably benign
R4948:Tubgcp5 UTSW 7 55,455,871 (GRCm39) missense probably benign 0.00
R5110:Tubgcp5 UTSW 7 55,458,385 (GRCm39) missense probably damaging 0.96
R5347:Tubgcp5 UTSW 7 55,473,433 (GRCm39) missense probably damaging 1.00
R5417:Tubgcp5 UTSW 7 55,475,409 (GRCm39) missense possibly damaging 0.90
R5574:Tubgcp5 UTSW 7 55,455,077 (GRCm39) missense probably benign 0.01
R5957:Tubgcp5 UTSW 7 55,464,710 (GRCm39) missense probably benign 0.03
R6014:Tubgcp5 UTSW 7 55,473,357 (GRCm39) missense probably benign
R6141:Tubgcp5 UTSW 7 55,456,526 (GRCm39) missense probably benign 0.30
R6289:Tubgcp5 UTSW 7 55,445,671 (GRCm39) missense probably benign 0.05
R6511:Tubgcp5 UTSW 7 55,467,140 (GRCm39) nonsense probably null
R6563:Tubgcp5 UTSW 7 55,475,409 (GRCm39) missense possibly damaging 0.90
R6574:Tubgcp5 UTSW 7 55,473,331 (GRCm39) missense probably benign
R6596:Tubgcp5 UTSW 7 55,456,382 (GRCm39) missense probably benign 0.38
R7016:Tubgcp5 UTSW 7 55,443,977 (GRCm39) missense possibly damaging 0.76
R7038:Tubgcp5 UTSW 7 55,455,114 (GRCm39) missense probably damaging 0.99
R7075:Tubgcp5 UTSW 7 55,479,155 (GRCm39) missense probably benign 0.04
R7083:Tubgcp5 UTSW 7 55,450,443 (GRCm39) nonsense probably null
R7213:Tubgcp5 UTSW 7 55,455,860 (GRCm39) missense probably damaging 0.97
R7284:Tubgcp5 UTSW 7 55,473,315 (GRCm39) missense probably benign
R7600:Tubgcp5 UTSW 7 55,458,261 (GRCm39) missense probably benign
R7813:Tubgcp5 UTSW 7 55,450,444 (GRCm39) missense possibly damaging 0.49
R7920:Tubgcp5 UTSW 7 55,466,310 (GRCm39) missense probably benign 0.00
R7948:Tubgcp5 UTSW 7 55,443,996 (GRCm39) missense probably benign 0.01
R8438:Tubgcp5 UTSW 7 55,454,363 (GRCm39) missense possibly damaging 0.67
R8499:Tubgcp5 UTSW 7 55,454,363 (GRCm39) missense possibly damaging 0.67
R9087:Tubgcp5 UTSW 7 55,467,106 (GRCm39) missense probably damaging 1.00
R9211:Tubgcp5 UTSW 7 55,456,331 (GRCm39) missense probably benign 0.05
R9269:Tubgcp5 UTSW 7 55,445,693 (GRCm39) missense possibly damaging 0.94
R9329:Tubgcp5 UTSW 7 55,479,181 (GRCm39) critical splice donor site probably null
R9355:Tubgcp5 UTSW 7 55,467,177 (GRCm39) critical splice donor site probably null
R9498:Tubgcp5 UTSW 7 55,463,233 (GRCm39) missense possibly damaging 0.46
R9687:Tubgcp5 UTSW 7 55,475,327 (GRCm39) critical splice acceptor site probably null
Z1088:Tubgcp5 UTSW 7 55,464,849 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTGCAGGCCATGAGGAATT -3'
(R):5'- CCTTTGTGTTTCGTCTGGAGATA -3'

Sequencing Primer
(F):5'- TTTTTCTTGATGGAAGGTGGAGAC -3'
(R):5'- GCATGCTTTGAACACTAGCG -3'
Posted On 2017-12-01