Incidental Mutation 'R6970:Tubgcp3'
ID 542185
Institutional Source Beutler Lab
Gene Symbol Tubgcp3
Ensembl Gene ENSMUSG00000000759
Gene Name tubulin, gamma complex component 3
Synonyms GCP3, Spc98p
MMRRC Submission 045080-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6970 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 12664277-12722141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 12687000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 630 (D630E)
Ref Sequence ENSEMBL: ENSMUSP00000000776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000776] [ENSMUST00000164774]
AlphaFold P58854
Predicted Effect probably damaging
Transcript: ENSMUST00000000776
AA Change: D630E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: D630E

DomainStartEndE-ValueType
low complexity region 152 171 N/A INTRINSIC
Pfam:Spc97_Spc98 251 761 9.5e-124 PFAM
coiled coil region 787 814 N/A INTRINSIC
low complexity region 821 827 N/A INTRINSIC
low complexity region 890 903 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164774
SMART Domains Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759

DomainStartEndE-ValueType
low complexity region 152 171 N/A INTRINSIC
Pfam:Spc97_Spc98 251 361 3.5e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,036,044 (GRCm39) Y285H possibly damaging Het
Adam17 A G 12: 21,395,669 (GRCm39) S285P probably benign Het
Adcy10 A G 1: 165,384,485 (GRCm39) N1082S probably benign Het
Ahdc1 T A 4: 132,789,656 (GRCm39) L299Q possibly damaging Het
Ambra1 T A 2: 91,602,945 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Atp8a1 A G 5: 67,895,805 (GRCm39) V543A probably damaging Het
BC034090 T A 1: 155,117,185 (GRCm39) D311V probably damaging Het
Blnk G T 19: 40,950,821 (GRCm39) P110Q probably damaging Het
Cc2d2a A G 5: 43,875,927 (GRCm39) E968G probably damaging Het
Ccdc14 A T 16: 34,529,903 (GRCm39) E394V probably damaging Het
Ccdc162 A T 10: 41,491,954 (GRCm39) H1086Q probably benign Het
Ccdc85b T A 19: 5,507,248 (GRCm39) I60F probably damaging Het
Ceacam20 T A 7: 19,723,902 (GRCm39) L562Q probably damaging Het
Cntrl T C 2: 35,008,149 (GRCm39) F188L probably benign Het
Cplane1 T C 15: 8,217,032 (GRCm39) V750A probably benign Het
Dclk1 A T 3: 55,374,022 (GRCm39) probably benign Het
Ddx20 A T 3: 105,587,674 (GRCm39) L434H probably damaging Het
Ddx51 G A 5: 110,804,728 (GRCm39) V547M probably damaging Het
Dnah11 T A 12: 118,072,679 (GRCm39) Q1472L probably benign Het
Dnajb13 T C 7: 100,156,629 (GRCm39) E149G probably damaging Het
Efcab3 A G 11: 104,667,182 (GRCm39) E1422G probably benign Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,924 (GRCm39) N3192S probably damaging Het
Fat4 A T 3: 39,050,120 (GRCm39) D3994V probably damaging Het
Fcgr1 C A 3: 96,191,936 (GRCm39) probably null Het
Gm12185 G A 11: 48,798,739 (GRCm39) R585* probably null Het
Gm32687 A G 10: 81,715,304 (GRCm39) H232R probably benign Het
Gm5431 G T 11: 48,779,317 (GRCm39) A535D probably damaging Het
Jarid2 C T 13: 45,056,461 (GRCm39) P556S probably damaging Het
Map3k4 C A 17: 12,467,803 (GRCm39) G1077V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlxip A G 5: 123,583,735 (GRCm39) T433A possibly damaging Het
Ms4a20 A G 19: 11,089,678 (GRCm39) probably null Het
Mus81 G T 19: 5,535,554 (GRCm39) H199Q probably benign Het
Mylk3 G A 8: 86,085,892 (GRCm39) T54M probably damaging Het
Nalcn A G 14: 123,551,506 (GRCm39) F1034L possibly damaging Het
Nfatc1 A C 18: 80,710,228 (GRCm39) S513A probably benign Het
Ninj2 A G 6: 120,175,092 (GRCm39) I88V possibly damaging Het
Nomo1 C T 7: 45,695,391 (GRCm39) P277L probably damaging Het
Nup214 C T 2: 31,941,810 (GRCm39) S571L probably damaging Het
Or10g9b T A 9: 39,918,009 (GRCm39) M79L probably benign Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or9a7 T C 6: 40,521,590 (GRCm39) S108G probably benign Het
Pcdh15 C T 10: 74,338,519 (GRCm39) P1005S probably damaging Het
Pkhd1l1 G A 15: 44,375,070 (GRCm39) A942T possibly damaging Het
Plagl1 T C 10: 13,000,860 (GRCm39) C34R probably damaging Het
Plekha2 T C 8: 25,549,280 (GRCm39) Q168R probably benign Het
Plekha6 G A 1: 133,191,556 (GRCm39) A146T probably benign Het
Plekhm3 T G 1: 64,931,912 (GRCm39) K564T possibly damaging Het
Plpp2 A G 10: 79,366,380 (GRCm39) V26A possibly damaging Het
Prdm10 T G 9: 31,241,119 (GRCm39) Y302* probably null Het
Prdm8 A G 5: 98,332,471 (GRCm39) E124G probably damaging Het
Prg4 T G 1: 150,331,657 (GRCm39) probably benign Het
Qser1 A G 2: 104,618,475 (GRCm39) V779A probably benign Het
Rbm39 G A 2: 156,009,504 (GRCm39) R123C probably damaging Het
Ric1 C T 19: 29,565,172 (GRCm39) P640S probably damaging Het
Rpl14 G A 9: 120,403,293 (GRCm39) probably benign Het
Rsl1d1 T A 16: 11,011,558 (GRCm39) D382V probably benign Het
Rubcn G T 16: 32,688,514 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Slc26a11 T G 11: 119,247,798 (GRCm39) V41G probably damaging Het
Slc41a2 A G 10: 83,151,960 (GRCm39) F172L possibly damaging Het
Slc4a4 A C 5: 89,327,690 (GRCm39) Y674S probably damaging Het
Spata31e3 A T 13: 50,401,007 (GRCm39) Y440N possibly damaging Het
Strc A C 2: 121,208,495 (GRCm39) M292R probably benign Het
Syde2 A G 3: 145,694,381 (GRCm39) T210A probably benign Het
Tcf7l2 C A 19: 55,743,480 (GRCm39) A97E probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tepsin G A 11: 119,986,190 (GRCm39) T168M probably damaging Het
Tex15 A T 8: 34,047,456 (GRCm39) M178L probably benign Het
Tgfbr2 T C 9: 115,939,119 (GRCm39) N236S probably damaging Het
Tnrc18 A G 5: 142,713,744 (GRCm39) V2531A probably damaging Het
Ttn T G 2: 76,725,767 (GRCm39) probably benign Het
Ubr4 G A 4: 139,133,839 (GRCm39) W745* probably null Het
Vmn2r115 G A 17: 23,564,989 (GRCm39) G292D probably benign Het
Vmn2r38 T A 7: 9,078,340 (GRCm39) K681* probably null Het
Xrcc6 A G 15: 81,915,375 (GRCm39) K98E probably benign Het
Zfp423 A G 8: 88,530,407 (GRCm39) V13A probably benign Het
Zfp512b A G 2: 181,228,141 (GRCm39) I5T possibly damaging Het
Zmynd8 C T 2: 165,717,670 (GRCm39) E14K probably damaging Het
Other mutations in Tubgcp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Tubgcp3 APN 8 12,671,809 (GRCm39) missense probably benign 0.00
IGL00583:Tubgcp3 APN 8 12,671,906 (GRCm39) nonsense probably null
IGL01289:Tubgcp3 APN 8 12,689,625 (GRCm39) missense probably damaging 1.00
IGL01578:Tubgcp3 APN 8 12,711,297 (GRCm39) splice site probably benign
IGL01716:Tubgcp3 APN 8 12,691,094 (GRCm39) splice site probably benign
IGL01943:Tubgcp3 APN 8 12,704,301 (GRCm39) missense probably damaging 1.00
IGL02020:Tubgcp3 APN 8 12,687,780 (GRCm39) missense possibly damaging 0.46
IGL02345:Tubgcp3 APN 8 12,675,056 (GRCm39) missense probably damaging 1.00
IGL02555:Tubgcp3 APN 8 12,689,595 (GRCm39) missense probably benign 0.36
IGL02644:Tubgcp3 APN 8 12,698,733 (GRCm39) missense probably damaging 1.00
IGL02976:Tubgcp3 APN 8 12,682,300 (GRCm39) missense probably damaging 1.00
IGL03240:Tubgcp3 APN 8 12,699,797 (GRCm39) missense probably benign 0.07
IGL03287:Tubgcp3 APN 8 12,689,630 (GRCm39) missense possibly damaging 0.77
Tinky_winky UTSW 8 12,700,171 (GRCm39) missense probably damaging 1.00
R0145:Tubgcp3 UTSW 8 12,707,561 (GRCm39) missense probably benign 0.01
R0379:Tubgcp3 UTSW 8 12,691,116 (GRCm39) missense probably damaging 0.97
R0558:Tubgcp3 UTSW 8 12,703,462 (GRCm39) missense probably benign 0.00
R1490:Tubgcp3 UTSW 8 12,689,550 (GRCm39) missense probably damaging 1.00
R1709:Tubgcp3 UTSW 8 12,689,532 (GRCm39) nonsense probably null
R1768:Tubgcp3 UTSW 8 12,699,686 (GRCm39) unclassified probably benign
R1921:Tubgcp3 UTSW 8 12,671,932 (GRCm39) nonsense probably null
R1928:Tubgcp3 UTSW 8 12,713,988 (GRCm39) missense possibly damaging 0.94
R2161:Tubgcp3 UTSW 8 12,682,292 (GRCm39) missense probably benign 0.22
R3120:Tubgcp3 UTSW 8 12,707,626 (GRCm39) missense possibly damaging 0.51
R3434:Tubgcp3 UTSW 8 12,708,381 (GRCm39) splice site probably null
R4011:Tubgcp3 UTSW 8 12,689,634 (GRCm39) nonsense probably null
R4162:Tubgcp3 UTSW 8 12,689,547 (GRCm39) missense possibly damaging 0.46
R4300:Tubgcp3 UTSW 8 12,707,600 (GRCm39) missense probably damaging 0.99
R4350:Tubgcp3 UTSW 8 12,691,117 (GRCm39) missense probably benign 0.19
R4529:Tubgcp3 UTSW 8 12,713,932 (GRCm39) missense probably damaging 0.98
R4530:Tubgcp3 UTSW 8 12,713,932 (GRCm39) missense probably damaging 0.98
R4531:Tubgcp3 UTSW 8 12,713,932 (GRCm39) missense probably damaging 0.98
R4676:Tubgcp3 UTSW 8 12,700,171 (GRCm39) missense probably damaging 1.00
R4730:Tubgcp3 UTSW 8 12,707,654 (GRCm39) missense probably benign 0.03
R4828:Tubgcp3 UTSW 8 12,721,987 (GRCm39) missense probably benign
R4860:Tubgcp3 UTSW 8 12,699,722 (GRCm39) missense probably benign 0.03
R4860:Tubgcp3 UTSW 8 12,699,722 (GRCm39) missense probably benign 0.03
R5610:Tubgcp3 UTSW 8 12,689,577 (GRCm39) missense probably damaging 1.00
R5625:Tubgcp3 UTSW 8 12,674,888 (GRCm39) missense possibly damaging 0.46
R5650:Tubgcp3 UTSW 8 12,698,670 (GRCm39) missense probably damaging 0.98
R5775:Tubgcp3 UTSW 8 12,675,056 (GRCm39) missense probably damaging 1.00
R6257:Tubgcp3 UTSW 8 12,699,835 (GRCm39) splice site probably null
R6314:Tubgcp3 UTSW 8 12,698,625 (GRCm39) missense probably benign 0.02
R7173:Tubgcp3 UTSW 8 12,689,259 (GRCm39) splice site probably null
R7408:Tubgcp3 UTSW 8 12,711,359 (GRCm39) nonsense probably null
R7502:Tubgcp3 UTSW 8 12,691,207 (GRCm39) missense probably damaging 0.99
R7701:Tubgcp3 UTSW 8 12,705,974 (GRCm39) missense probably benign
R7739:Tubgcp3 UTSW 8 12,707,561 (GRCm39) missense probably benign 0.01
R8169:Tubgcp3 UTSW 8 12,666,099 (GRCm39) missense probably benign
R8327:Tubgcp3 UTSW 8 12,704,343 (GRCm39) missense probably benign 0.11
R8723:Tubgcp3 UTSW 8 12,671,899 (GRCm39) missense probably damaging 0.96
R9212:Tubgcp3 UTSW 8 12,691,200 (GRCm39) missense possibly damaging 0.67
R9393:Tubgcp3 UTSW 8 12,703,411 (GRCm39) missense probably damaging 1.00
R9413:Tubgcp3 UTSW 8 12,674,885 (GRCm39) missense probably damaging 1.00
R9650:Tubgcp3 UTSW 8 12,705,974 (GRCm39) missense probably benign
R9739:Tubgcp3 UTSW 8 12,699,744 (GRCm39) missense probably benign 0.06
R9748:Tubgcp3 UTSW 8 12,699,758 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTGGATCTAGCCTACATCAC -3'
(R):5'- TCATGATTCCCGCACGATC -3'

Sequencing Primer
(F):5'- GTGGATCTAGCCTACATCACAATTAC -3'
(R):5'- AGAGCACTGTGATATGCTCC -3'
Posted On 2018-11-28