Incidental Mutation 'R7016:Tubgcp5'
ID 545302
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 045117-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R7016 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55443977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2 (D2G)
Ref Sequence ENSEMBL: ENSMUSP00000146178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191] [ENSMUST00000206454]
AlphaFold Q8BKN5
Predicted Effect probably benign
Transcript: ENSMUST00000032627
AA Change: D12G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: D12G

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205796
AA Change: D12G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206191
AA Change: D12G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206454
AA Change: D2G

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,986,843 (GRCm39) V754D probably benign Het
Actn1 T A 12: 80,219,742 (GRCm39) M710L possibly damaging Het
Adam1a A G 5: 121,659,101 (GRCm39) F64S probably benign Het
Aip G T 19: 4,171,402 (GRCm39) D11E probably benign Het
Ak7 T A 12: 105,747,938 (GRCm39) Y714* probably null Het
Amhr2 A G 15: 102,362,799 (GRCm39) E522G possibly damaging Het
Amotl1 A G 9: 14,504,995 (GRCm39) L108P probably damaging Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Asph T C 4: 9,630,604 (GRCm39) probably null Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
Atp13a3 C A 16: 30,157,308 (GRCm39) V903L possibly damaging Het
Bcam G A 7: 19,492,368 (GRCm39) R576* probably null Het
Btbd2 A G 10: 80,484,449 (GRCm39) S141P probably damaging Het
Cacna1b T C 2: 24,652,860 (GRCm39) N67S possibly damaging Het
Cc2d2b A G 19: 40,784,248 (GRCm39) T872A possibly damaging Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Cep44 A T 8: 56,997,234 (GRCm39) F101L possibly damaging Het
Cfap410 T A 10: 77,818,790 (GRCm39) C154S probably benign Het
Cimap1d T C 10: 79,475,790 (GRCm39) Y258C probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnajc21 G T 15: 10,461,493 (GRCm39) Y152* probably null Het
Edem2 A G 2: 155,557,992 (GRCm39) F214L possibly damaging Het
Fam118b G A 9: 35,135,014 (GRCm39) R198W probably damaging Het
Fgb A G 3: 82,953,371 (GRCm39) V133A probably benign Het
Fsip2 A G 2: 82,820,979 (GRCm39) T5571A probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hnf4a T A 2: 163,406,193 (GRCm39) Y277N probably damaging Het
Htatip2 A G 7: 49,420,583 (GRCm39) D143G possibly damaging Het
Itgae A G 11: 73,010,342 (GRCm39) N611D probably damaging Het
Ksr1 A T 11: 78,918,362 (GRCm39) N515K probably damaging Het
Lrp1 C A 10: 127,395,836 (GRCm39) probably null Het
Map3k20 T A 2: 72,208,979 (GRCm39) V195D probably damaging Het
Meox2 A G 12: 37,159,223 (GRCm39) S132G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nell2 T A 15: 95,127,032 (GRCm39) N781I possibly damaging Het
Or12d16-ps1 G A 17: 37,706,094 (GRCm39) G221D possibly damaging Het
Or13a22 A G 7: 140,073,153 (GRCm39) T201A probably benign Het
Or51m1 A G 7: 103,578,737 (GRCm39) I236V probably benign Het
Or5e1 A G 7: 108,354,918 (GRCm39) N285S probably damaging Het
Otoa A T 7: 120,746,989 (GRCm39) Q918L probably damaging Het
Palld T G 8: 61,969,032 (GRCm39) K1022T probably damaging Het
Parp8 A T 13: 117,031,627 (GRCm39) S362T probably damaging Het
Phrf1 A G 7: 140,817,476 (GRCm39) E95G probably damaging Het
Pls1 A T 9: 95,668,994 (GRCm39) F76I probably damaging Het
Pnp T A 14: 51,187,706 (GRCm39) probably null Het
Ptdss1 A C 13: 67,120,685 (GRCm39) M294L probably benign Het
Rictor T A 15: 6,804,361 (GRCm39) probably null Het
Rilp A G 11: 75,401,745 (GRCm39) E175G probably damaging Het
Serpina16 T A 12: 103,641,630 (GRCm39) T32S probably benign Het
Sim1 C T 10: 50,860,346 (GRCm39) S736L probably benign Het
Smarcc2 T G 10: 128,321,198 (GRCm39) probably null Het
Smtn A G 11: 3,480,368 (GRCm39) probably null Het
Sspo T A 6: 48,426,098 (GRCm39) W98R probably damaging Het
St8sia3 A T 18: 64,402,654 (GRCm39) I98F probably benign Het
Taf10 A T 7: 105,393,205 (GRCm39) probably null Het
Tasor2 A T 13: 3,626,857 (GRCm39) V1031E possibly damaging Het
Tbc1d4 T A 14: 101,724,877 (GRCm39) N580I probably damaging Het
Trim12c A T 7: 103,997,413 (GRCm39) C48S Het
Tsc22d1 C A 14: 76,654,982 (GRCm39) T405K probably damaging Het
Wwc2 T C 8: 48,300,583 (GRCm39) E960G unknown Het
Yme1l1 T A 2: 23,076,367 (GRCm39) probably null Het
Zbtb2 G C 10: 4,318,646 (GRCm39) P460R probably damaging Het
Zfp62 T G 11: 49,106,764 (GRCm39) I285S 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
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
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'- GTCTGAAGACTCTCGGATTTCCC -3'
(R):5'- AACTGCGGGTTTCTCGCAAG -3'

Sequencing Primer
(F):5'- ATTTCCCGGTGTGCAAGCAG -3'
(R):5'- GGTTTCTCGCAAGGGCAC -3'
Posted On 2019-05-13