Incidental Mutation 'IGL01943:Tubgcp3'
ID 180933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubgcp3
Ensembl Gene ENSMUSG00000000759
Gene Name tubulin, gamma complex component 3
Synonyms GCP3, Spc98p
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL01943
Quality Score
Status
Chromosome 8
Chromosomal Location 12664277-12722141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12704301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 256 (F256S)
Ref Sequence ENSEMBL: ENSMUSP00000127741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000776] [ENSMUST00000164774]
AlphaFold P58854
Predicted Effect probably damaging
Transcript: ENSMUST00000000776
AA Change: F256S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: F256S

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 damaging
Transcript: ENSMUST00000164774
AA Change: F256S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759
AA Change: F256S

DomainStartEndE-ValueType
low complexity region 152 171 N/A INTRINSIC
Pfam:Spc97_Spc98 251 361 3.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164971
Predicted Effect probably benign
Transcript: ENSMUST00000165321
SMART Domains Protein: ENSMUSP00000131051
Gene: ENSMUSG00000000759

DomainStartEndE-ValueType
low complexity region 35 54 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167547
Predicted Effect probably benign
Transcript: ENSMUST00000172056
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) probably benign 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
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
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
Posted On 2014-05-07