Incidental Mutation 'G5030:Tubgcp4'
ID505
Institutional Source Beutler Lab
Gene Symbol Tubgcp4
Ensembl Gene ENSMUSG00000027263
Gene Nametubulin, gamma complex associated protein 4
SynonymsD2Ertd435e, 4932441P04Rik
Accession Numbers

Genbank: NM_153387

Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #G5030 (G3) of strain 560
Quality Score
Status Validated
Chromosome2
Chromosomal Location121170654-121198770 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 121184334 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 242 (R242C)
Ref Sequence ENSEMBL: ENSMUSP00000140417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039541] [ENSMUST00000110657] [ENSMUST00000110658] [ENSMUST00000186659]
Predicted Effect probably damaging
Transcript: ENSMUST00000039541
AA Change: R242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
AA Change: R242C

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 573 2.8e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110657
AA Change: R242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: R242C

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 3.1e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110658
AA Change: R242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
AA Change: R242C

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154633
Predicted Effect probably damaging
Transcript: ENSMUST00000186659
AA Change: R242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
AA Change: R242C

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Meta Mutation Damage Score 0.338 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 60.2%
Het Detection Efficiency35.6%
Validation Efficiency 87% (206/237)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,070,339 I585F probably damaging Het
Adam18 C G 8: 24,651,856 L232F probably benign Homo
Atp13a4 A G 16: 29,455,488 I385T probably damaging Homo
Ccdc17 T A 4: 116,598,502 S277T probably benign Het
Ccng1 A G 11: 40,753,802 probably benign Het
Ces1f T C 8: 93,274,219 D99G probably benign Het
Clec16a G A 16: 10,571,561 R187Q probably damaging Homo
Cryl1 C T 14: 57,342,138 probably benign Het
Cryzl2 C T 1: 157,465,010 Q48* probably null Het
Dtx4 A G 19: 12,469,579 L583P probably benign Het
Ephx4 A T 5: 107,429,827 D339V probably damaging Het
Eri2 A T 7: 119,786,378 V300E possibly damaging Het
F3 T A 3: 121,724,999 N37K probably damaging Homo
Fpr1 A T 17: 17,876,806 L307H probably damaging Het
Fv1 T A 4: 147,869,161 N61K possibly damaging Het
Gm5548 T C 3: 113,054,196 Homo
Il1r1 A G 1: 40,313,163 K498E possibly damaging Homo
Myh11 T C 16: 14,250,579 I192M probably damaging Homo
Nckap5 T C 1: 126,025,854 K923R probably damaging Het
Nmbr A T 10: 14,767,003 Y102F possibly damaging Het
Olfr790 A G 10: 129,501,537 T218A probably benign Homo
Pde1a C T 2: 79,887,836 probably benign Het
Pex6 T C 17: 46,715,456 probably benign Het
Rtn2 T C 7: 19,293,174 S305P probably damaging Homo
Saal1 G A 7: 46,692,783 T412I probably damaging Homo
Slc46a2 A T 4: 59,913,867 I352N probably damaging Het
Trim37 A T 11: 87,143,141 H99L probably damaging Het
Twf2 C A 9: 106,206,942 L27I possibly damaging Het
Usp40 A T 1: 87,994,219 H307Q probably damaging Het
Zfhx3 T G 8: 108,951,459 V3047G possibly damaging Het
Other mutations in Tubgcp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Tubgcp4 APN 2 121178701 missense probably damaging 0.99
IGL01112:Tubgcp4 APN 2 121173601 missense probably benign 0.10
IGL01149:Tubgcp4 APN 2 121184783 missense probably null 0.01
IGL01869:Tubgcp4 APN 2 121175788 missense possibly damaging 0.95
IGL01873:Tubgcp4 APN 2 121188184 critical splice donor site probably null
IGL01888:Tubgcp4 APN 2 121184747 missense probably benign 0.15
IGL03060:Tubgcp4 APN 2 121176590
IGL03333:Tubgcp4 APN 2 121196173 unclassified probably null
FR4589:Tubgcp4 UTSW 2 121175463 critical splice donor site probably benign
R0482:Tubgcp4 UTSW 2 121175374 missense probably benign 0.02
R0512:Tubgcp4 UTSW 2 121175419 missense probably benign 0.06
R1433:Tubgcp4 UTSW 2 121175424 nonsense probably null
R1488:Tubgcp4 UTSW 2 121176550 missense possibly damaging 0.50
R1699:Tubgcp4 UTSW 2 121189893 nonsense probably null
R1760:Tubgcp4 UTSW 2 121189471 critical splice donor site probably null
R1935:Tubgcp4 UTSW 2 121178666 splice site probably benign
R2249:Tubgcp4 UTSW 2 121183629 missense possibly damaging 0.86
R4093:Tubgcp4 UTSW 2 121195477 missense probably benign 0.01
R4422:Tubgcp4 UTSW 2 121189401 nonsense probably null
R4433:Tubgcp4 UTSW 2 121184473 missense probably benign 0.01
R4541:Tubgcp4 UTSW 2 121195426 missense probably benign 0.01
R4670:Tubgcp4 UTSW 2 121173665 nonsense probably null
R4873:Tubgcp4 UTSW 2 121184849 intron probably benign
R4877:Tubgcp4 UTSW 2 121189862 missense probably benign
R5044:Tubgcp4 UTSW 2 121173580 missense probably damaging 1.00
R5436:Tubgcp4 UTSW 2 121188136 missense probably damaging 1.00
R5436:Tubgcp4 UTSW 2 121194182 missense probably benign 0.01
R5566:Tubgcp4 UTSW 2 121184770 missense possibly damaging 0.61
R6110:Tubgcp4 UTSW 2 121194108 missense probably benign 0.02
R6700:Tubgcp4 UTSW 2 121189848 missense probably benign 0.11
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 912 of the Tubgcp4 transcript in exon 8 of 18 total exons. Multiple transcripts of the Tubgcp4 gene are displayed on Ensembl and Vega.  The mutated nucleotide causes an arginine to cysteine substitution at amino acid 242 of the encoded protein. This residue occurs at an intron/exon boundary and may also affect splicing. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The Tubgcp4 gene encodes a 667 amino acid component of the gamma-tubulin complex, which is necessary for microtubule nucleation at the centrosome (Uniprot Q9D4F8).

The R242C change is predicted to be probably damaging by the PolyPhen program (see report).
Posted On2010-10-26