Incidental Mutation 'IGL01843:Tubgcp5'
ID 178087
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 # IGL01843
Quality Score
Status
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55449221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 139 (D139E)
Ref Sequence ENSEMBL: ENSMUSP00000146033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191] [ENSMUST00000206454]
AlphaFold Q8BKN5
Predicted Effect probably benign
Transcript: ENSMUST00000032627
AA Change: D139E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: D139E

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205796
AA Change: D139E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
AA Change: D139E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000206454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,530,301 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,989,169 (GRCm39) L782P probably damaging Het
Arid1a T C 4: 133,408,765 (GRCm39) D1914G unknown Het
C8a G A 4: 104,719,808 (GRCm39) Q57* probably null Het
Cachd1 T C 4: 100,850,069 (GRCm39) S1144P probably damaging Het
Cdh23 A T 10: 60,255,598 (GRCm39) probably null Het
Cenpe A G 3: 134,924,268 (GRCm39) Q198R possibly damaging Het
Cpne8 T C 15: 90,453,700 (GRCm39) I228V probably benign Het
Cr2 A T 1: 194,833,222 (GRCm39) probably benign Het
Csmd3 T C 15: 47,522,395 (GRCm39) probably benign Het
Cyp2c23 A G 19: 43,994,046 (GRCm39) V440A probably benign Het
Dag1 T C 9: 108,085,281 (GRCm39) D620G possibly damaging Het
Dmxl1 T A 18: 50,011,449 (GRCm39) L1202* probably null Het
Dnah3 T G 7: 119,542,798 (GRCm39) H3538P probably benign Het
Dock8 A T 19: 25,067,292 (GRCm39) Q312L probably benign Het
E2f7 T G 10: 110,610,596 (GRCm39) V407G probably benign Het
F13b T C 1: 139,444,165 (GRCm39) S500P probably damaging Het
F5 A G 1: 164,039,395 (GRCm39) I2002V probably benign Het
Flywch1 T A 17: 23,979,319 (GRCm39) M439L possibly damaging Het
Gcn1 C A 5: 115,757,759 (GRCm39) A2488E probably damaging Het
Gria1 T C 11: 57,208,600 (GRCm39) S832P probably damaging Het
Hnrnpr T C 4: 136,066,724 (GRCm39) probably benign Het
Hps3 A G 3: 20,083,165 (GRCm39) I177T probably benign Het
Irgm2 G A 11: 58,111,167 (GRCm39) G298D probably benign Het
Kcnk7 G A 19: 5,756,230 (GRCm39) G152D probably damaging Het
Man2a2 T C 7: 80,012,654 (GRCm39) T620A probably benign Het
Mapk12 A G 15: 89,021,669 (GRCm39) probably benign Het
Mapk6 T C 9: 75,297,572 (GRCm39) Y315C probably damaging Het
Mdga2 T A 12: 66,769,905 (GRCm39) probably null Het
Met T A 6: 17,491,700 (GRCm39) I154N probably damaging Het
Mtrex T C 13: 113,055,095 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,328,772 (GRCm39) R234G possibly damaging Het
Olfm5 C A 7: 103,809,951 (GRCm39) V137F possibly damaging Het
Or4d11 G T 19: 12,014,041 (GRCm39) H22N probably benign Het
Pcdha11 C T 18: 37,145,886 (GRCm39) T659I probably benign Het
Pfkm T C 15: 98,027,187 (GRCm39) V620A possibly damaging Het
Rbak A G 5: 143,162,355 (GRCm39) probably benign Het
Rbl2 A G 8: 91,816,844 (GRCm39) I401M probably benign Het
Rragc T C 4: 123,814,852 (GRCm39) S183P probably damaging Het
Septin3 A G 15: 82,163,814 (GRCm39) probably benign Het
Slc22a6 A T 19: 8,603,578 (GRCm39) probably benign Het
Spag4 A T 2: 155,910,417 (GRCm39) T348S probably benign Het
Sptbn1 T C 11: 30,054,623 (GRCm39) R2157G probably benign Het
Tmem168 G A 6: 13,582,940 (GRCm39) T263M probably damaging Het
Tnik T A 3: 28,625,007 (GRCm39) probably null Het
Tnpo2 T A 8: 85,777,137 (GRCm39) V549E probably damaging Het
Ttll7 A C 3: 146,645,776 (GRCm39) K545Q possibly damaging Het
Vmn1r233 T A 17: 21,214,861 (GRCm39) N30Y probably damaging Het
Vmn2r25 T G 6: 123,829,962 (GRCm39) D63A possibly damaging Het
Vmn2r79 T A 7: 86,686,485 (GRCm39) L622Q probably damaging Het
Vmn2r84 T C 10: 130,222,148 (GRCm39) M691V probably benign Het
Zc3hc1 A T 6: 30,372,729 (GRCm39) probably benign 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
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
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