Incidental Mutation 'R7948:Tubgcp5'
ID 615972
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 045993-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R7948 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55443996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 18 (D18E)
Ref Sequence ENSEMBL: ENSMUSP00000032627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191] [ENSMUST00000206454]
AlphaFold Q8BKN5
Predicted Effect probably benign
Transcript: ENSMUST00000032627
AA Change: D18E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: D18E

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: D18E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
AA Change: D18E

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000206454
AA Change: D8E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik CGGTCTAGCTGAGCAGGAGGCAGCTCAGG CGG 14: 70,394,815 (GRCm39) probably null Het
Abca8a A T 11: 109,941,805 (GRCm39) Y1155N probably benign Het
Adcy8 C T 15: 64,687,199 (GRCm39) R435K possibly damaging Het
Adgrv1 C A 13: 81,707,648 (GRCm39) V1253F probably damaging Het
Adgrv1 T C 13: 81,707,707 (GRCm39) D1233G probably damaging Het
Baz2a G A 10: 127,961,194 (GRCm39) R1639H possibly damaging Het
Ccdc125 A G 13: 100,832,910 (GRCm39) T496A probably benign Het
Cntnap5a A G 1: 116,508,258 (GRCm39) M1257V probably benign Het
Cpne3 A G 4: 19,528,186 (GRCm39) probably null Het
Cts3 T C 13: 61,713,863 (GRCm39) E288G probably benign Het
Deup1 T C 9: 15,521,944 (GRCm39) K74E possibly damaging Het
Epn1 T A 7: 5,092,992 (GRCm39) Y101* probably null Het
Ercc4 A G 16: 12,948,049 (GRCm39) D422G probably benign Het
Exoc6 A C 19: 37,565,422 (GRCm39) N166T probably benign Het
Fam89a T C 8: 125,478,409 (GRCm39) Y47C probably damaging Het
Fbn1 C A 2: 125,183,219 (GRCm39) Q1753H probably damaging Het
Gal3st4 C T 5: 138,269,262 (GRCm39) R66Q probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Golm1 C A 13: 59,812,011 (GRCm39) probably null Het
Gtpbp3 A G 8: 71,945,230 (GRCm39) H434R probably damaging Het
Hbegf A G 18: 36,639,752 (GRCm39) L194S possibly damaging Het
Igsf10 A G 3: 59,239,279 (GRCm39) S301P probably benign Het
Il9r A C 11: 32,144,486 (GRCm39) C106W probably damaging Het
Lama5 T C 2: 179,843,994 (GRCm39) D389G probably damaging Het
Lyst T A 13: 13,921,174 (GRCm39) D3373E possibly damaging Het
Mkrn1 T A 6: 39,377,344 (GRCm39) Y361F probably benign Het
Mtrex C T 13: 113,058,296 (GRCm39) R45Q probably benign Het
Muc16 A T 9: 18,553,786 (GRCm39) I4169N unknown Het
Myo7a C T 7: 97,724,236 (GRCm39) G1150S probably damaging Het
Myom2 A G 8: 15,135,306 (GRCm39) D503G probably benign Het
Nmnat3 A G 9: 98,281,535 (GRCm39) I46V probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nrros A T 16: 31,981,076 (GRCm39) N17K unknown Het
Or51a39 C T 7: 102,362,895 (GRCm39) V242I probably benign Het
Patj A T 4: 98,312,547 (GRCm39) K295M probably damaging Het
Pax6 A G 2: 105,516,222 (GRCm39) T167A probably benign Het
Pclo T A 5: 14,815,180 (GRCm39) L1212* probably null Het
Peg3 T A 7: 6,711,781 (GRCm39) Y1147F probably damaging Het
Ppp2r5c T A 12: 110,432,420 (GRCm39) N77K probably benign Het
Prickle2 T C 6: 92,393,903 (GRCm39) I257V possibly damaging Het
Ptprc G A 1: 137,992,314 (GRCm39) T1132I probably benign Het
Serpinb6a G A 13: 34,107,003 (GRCm39) S183L probably benign Het
Slc6a15 T A 10: 103,240,156 (GRCm39) M293K possibly damaging Het
Tmem131 A T 1: 36,833,229 (GRCm39) W1749R probably damaging Het
Trpm8 T A 1: 88,302,091 (GRCm39) Y1020* probably null Het
Ttn G T 2: 76,598,523 (GRCm39) Y19463* probably null Het
Ubtd1 T A 19: 42,022,174 (GRCm39) F149I probably benign Het
Xirp2 A G 2: 67,349,658 (GRCm39) K3279R possibly damaging Het
Zfp236 T C 18: 82,642,540 (GRCm39) T1117A probably damaging Het
Zfp945 A T 17: 23,071,096 (GRCm39) C289S unknown 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
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
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'- TAGCTGTCTGAAGACTCTCGG -3'
(R):5'- AACTGCGGGTTTCTCGCAAG -3'

Sequencing Primer
(F):5'- ATTTCCCGGTGTGCAAGCAG -3'
(R):5'- GGTTTCTCGCAAGGGCAC -3'
Posted On 2020-01-23