Incidental Mutation 'R6014:Tubgcp5'
ID 479919
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 044190-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6014 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55473357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 812 (S812A)
Ref Sequence ENSEMBL: ENSMUSP00000146111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206133] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect probably benign
Transcript: ENSMUST00000032627
AA Change: S875A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: S875A

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 probably benign
Transcript: ENSMUST00000205796
AA Change: S812A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206133
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,244,881 (GRCm39) M157K probably benign Het
A2ml1 C T 6: 128,548,948 (GRCm39) C278Y probably damaging Het
Abcc2 A T 19: 43,815,174 (GRCm39) Q1187L probably benign Het
Adcy9 A T 16: 4,236,683 (GRCm39) Y6N probably damaging Het
Adh1 T C 3: 137,992,559 (GRCm39) I225T probably benign Het
Akap11 A T 14: 78,749,939 (GRCm39) I816K probably benign Het
Ap1b1 T A 11: 4,969,364 (GRCm39) M240K possibly damaging Het
Apex1 A T 14: 51,162,982 (GRCm39) T17S probably benign Het
Arhgap21 C T 2: 20,886,616 (GRCm39) G26D probably damaging Het
Bahcc1 A G 11: 120,180,615 (GRCm39) Y2613C probably benign Het
Baz1b C T 5: 135,246,248 (GRCm39) R566W probably damaging Het
Casp8ap2 A T 4: 32,641,400 (GRCm39) Y818F probably damaging Het
Col3a1 T A 1: 45,360,739 (GRCm39) C56* probably null Het
Coro2a G A 4: 46,542,261 (GRCm39) P371S probably damaging Het
Cyp2a22 T A 7: 26,638,605 (GRCm39) probably null Het
Dpysl3 T A 18: 43,494,132 (GRCm39) I183F probably damaging Het
Drc1 A T 5: 30,502,993 (GRCm39) N172I probably damaging Het
Dst T C 1: 34,303,915 (GRCm39) Y1378H probably damaging Het
Dync2i2 C T 2: 29,921,763 (GRCm39) A533T probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l3 A T 17: 69,590,955 (GRCm39) T91S probably damaging Het
Exoc4 T C 6: 33,452,932 (GRCm39) V474A probably benign Het
Fam229b G A 10: 38,994,989 (GRCm39) T56I probably damaging Het
Gfm2 A G 13: 97,288,169 (GRCm39) probably null Het
Git2 C T 5: 114,871,938 (GRCm39) E152K probably benign Het
Golt1b T A 6: 142,341,943 (GRCm39) I109N probably damaging Het
Grid2ip T A 5: 143,373,578 (GRCm39) M783K possibly damaging Het
Inpp5a A G 7: 139,154,898 (GRCm39) Y339C probably damaging Het
Isoc2a T C 7: 4,894,625 (GRCm39) S103P probably damaging Het
Itih4 C A 14: 30,614,586 (GRCm39) Q483K probably benign Het
Kansl2 A G 15: 98,418,197 (GRCm39) probably null Het
Kdm5d G A Y: 921,528 (GRCm39) A509T probably benign Het
Krt13 A T 11: 100,008,437 (GRCm39) D433E unknown Het
Lat2 C T 5: 134,632,308 (GRCm39) V142M probably damaging Het
Lemd1 A C 1: 132,184,463 (GRCm39) *102S probably null Het
Lrfn2 T C 17: 49,376,934 (GRCm39) L5P possibly damaging Het
Lrrc4c T G 2: 97,459,557 (GRCm39) probably null Het
Lypla1 T A 1: 4,878,594 (GRCm39) probably null Het
Magi2 G A 5: 20,816,091 (GRCm39) G744R probably damaging Het
Myh14 T A 7: 44,274,502 (GRCm39) E948V probably null Het
Myo5a C A 9: 75,074,489 (GRCm39) Y799* probably null Het
Nacc1 A C 8: 85,401,700 (GRCm39) M371R possibly damaging Het
Nlrp5 T G 7: 23,109,372 (GRCm39) M106R probably benign Het
Oas1h C T 5: 121,005,229 (GRCm39) H226Y possibly damaging Het
Obscn A C 11: 58,929,690 (GRCm39) I5175R probably damaging Het
Pcdh7 T A 5: 57,878,497 (GRCm39) I684N probably damaging Het
Pcdhb3 T A 18: 37,435,706 (GRCm39) N557K probably damaging Het
Pde3b T C 7: 114,015,675 (GRCm39) L297S probably damaging Het
Pigv G T 4: 133,392,740 (GRCm39) H143Q probably benign Het
Ptk2 T G 15: 73,176,293 (GRCm39) Y251S possibly damaging Het
Ralgds A G 2: 28,433,673 (GRCm39) N219S probably damaging Het
Sardh C A 2: 27,087,540 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,356 (GRCm39) K212N possibly damaging Het
Sh3bp2 A G 5: 34,716,971 (GRCm39) N461D probably benign Het
Shisa2 A T 14: 59,867,357 (GRCm39) Q203L probably damaging Het
Shmt1 C A 11: 60,688,383 (GRCm39) G255V probably damaging Het
Socs1 T A 16: 10,602,357 (GRCm39) I127F possibly damaging Het
Srcap A T 7: 127,137,922 (GRCm39) T1091S probably benign Het
Syt14 A G 1: 192,613,003 (GRCm39) I599T probably damaging Het
Tep1 A T 14: 51,084,457 (GRCm39) N907K probably benign Het
Themis2 A G 4: 132,513,291 (GRCm39) Y312H probably benign Het
Ush2a A T 1: 188,582,237 (GRCm39) I3767F probably damaging Het
Usp40 T A 1: 87,907,738 (GRCm39) E626V probably damaging Het
Utrn T C 10: 12,566,620 (GRCm39) R1181G probably benign Het
Vmn2r117 T A 17: 23,698,535 (GRCm39) I13F probably damaging Het
Wdr48 G T 9: 119,753,775 (GRCm39) V646F probably damaging Het
Wdr64 T C 1: 175,633,556 (GRCm39) F936L possibly 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
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'- CTGGTATTTATCTTCCCAAGGCATG -3'
(R):5'- AAGTGTTCTGTGACTCTTGTATAGC -3'

Sequencing Primer
(F):5'- GAAATGCCCGTGTTAGGTTCCC -3'
(R):5'- ACCCTGGTCATGATGTAG -3'
Posted On 2017-06-26