Incidental Mutation 'IGL01950:Tubgcp5'
ID 181296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL01950
Quality Score
Status
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55455836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 288 (Q288R)
Ref Sequence ENSEMBL: ENSMUSP00000146111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032627
AA Change: Q288R

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: Q288R

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205779
Predicted Effect possibly damaging
Transcript: ENSMUST00000205796
AA Change: Q288R

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm G A 7: 110,228,107 (GRCm39) R96H probably damaging Het
Aebp1 C T 11: 5,819,108 (GRCm39) T198I probably benign Het
Arid3b A T 9: 57,702,257 (GRCm39) I500N probably damaging Het
Clec1b T A 6: 129,377,043 (GRCm39) W29R probably damaging Het
Cyp2e1 T C 7: 140,344,874 (GRCm39) probably null Het
Dnah5 A G 15: 28,290,435 (GRCm39) E1275G probably null Het
Dnajc13 A T 9: 104,067,631 (GRCm39) I1171N possibly damaging Het
Dpf3 T G 12: 83,371,723 (GRCm39) T171P probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Kcnc2 T G 10: 112,297,980 (GRCm39) probably benign Het
Kcnj11 A T 7: 45,748,573 (GRCm39) F250Y probably damaging Het
Kirrel3 C T 9: 34,939,625 (GRCm39) probably benign Het
Lmbrd1 T C 1: 24,750,683 (GRCm39) probably null Het
Mga T C 2: 119,772,135 (GRCm39) V1665A possibly damaging Het
Ms4a3 G T 19: 11,610,199 (GRCm39) A121E probably damaging Het
Nfix T C 8: 85,440,415 (GRCm39) *392W probably null Het
Noxred1 C T 12: 87,268,190 (GRCm39) V314M probably damaging Het
Or2t47 A T 11: 58,442,560 (GRCm39) C168* probably null Het
Or51aa5 T A 7: 103,167,472 (GRCm39) T40S probably benign Het
Phospho1 A G 11: 95,719,548 (GRCm39) probably benign Het
Prr5 G A 15: 84,650,550 (GRCm39) A237T probably benign Het
Rev3l C T 10: 39,697,153 (GRCm39) T550M probably damaging Het
Sbf2 A G 7: 109,965,032 (GRCm39) F955L probably benign Het
Slc38a9 C T 13: 112,831,787 (GRCm39) T179M probably damaging Het
Trpv5 T G 6: 41,652,912 (GRCm39) D87A probably benign Het
Uqcc1 A G 2: 155,700,058 (GRCm39) Y172H probably damaging Het
Vmn2r23 T C 6: 123,718,845 (GRCm39) F733L possibly damaging Het
Vmn2r71 A G 7: 85,264,827 (GRCm39) Y53C probably damaging Het
Vwa5a T A 9: 38,638,266 (GRCm39) M263K probably damaging Het
Zfp503 C A 14: 22,036,488 (GRCm39) A143S probably benign Het
Zfp958 T C 8: 4,678,917 (GRCm39) L314P 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
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
R5758:Tubgcp5 UTSW 7 55,468,643 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07