Incidental Mutation 'R9413:Tubgcp3'
ID 711902
Institutional Source Beutler Lab
Gene Symbol Tubgcp3
Ensembl Gene ENSMUSG00000000759
Gene Name tubulin, gamma complex component 3
Synonyms GCP3, Spc98p
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R9413 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 12664277-12722141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 12674885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 745 (I745S)
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: I745S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: I745S

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S possibly 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
R6970:Tubgcp3 UTSW 8 12,687,000 (GRCm39) missense probably damaging 0.98
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
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'- TAAACTTATGCAGCCCCGTGC -3'
(R):5'- GAGATGGTGCACTTCATCCAC -3'

Sequencing Primer
(F):5'- CGTGCCATTAACTGACTAAGACAATG -3'
(R):5'- CCAGATGCAGTACTACATCACCTTTG -3'
Posted On 2022-05-16