Incidental Mutation 'IGL03060:Tubgcp4'
ID409426
Institutional Source Australian Phenomics Network (link to record)
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: 0.963) question?
Stock #IGL03060
Quality Score
Status
Chromosome2
Chromosomal Location121170654-121198770 bp(+) (GRCm38)
Type of Mutation
DNA Base Change (assembly) A to G at 121176590 bp
ZygosityHeterozygous
Amino Acid Change
Predicted Effect probably benign
Transcript: ENSMUST00000039541
SMART Domains Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 573 2.8e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110657
SMART Domains Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 3.1e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110658
SMART Domains Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154633
Predicted Effect probably benign
Transcript: ENSMUST00000186659
SMART Domains Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 G A 19: 56,914,250 Q720* probably null Het
Amph A G 13: 19,094,814 E153G probably damaging Het
Atad2 T C 15: 58,122,446 probably benign Het
Cep152 C T 2: 125,619,987 probably benign Het
Cntn2 C T 1: 132,528,940 V123I probably benign Het
Dhrs2 C A 14: 55,237,318 Q137K probably benign Het
Fam124a A G 14: 62,605,904 Y287C probably benign Het
Fam214a A G 9: 75,010,168 D683G probably damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gm9637 G A 14: 19,402,173 noncoding transcript Het
Helz2 A G 2: 181,229,222 probably null Het
Iars G A 13: 49,690,447 probably null Het
Igll1 A T 16: 16,862,427 probably null Het
Iqch A G 9: 63,524,914 Y361H probably damaging Het
Lrp1b A T 2: 40,637,753 H105Q probably benign Het
Mapk6 A G 9: 75,397,802 M111T probably damaging Het
Mettl11b T C 1: 163,717,123 D97G probably damaging Het
Mkl1 G A 15: 81,045,322 R27W probably damaging Het
Mt1 T A 8: 94,179,894 probably benign Het
Myh7b A T 2: 155,632,751 D1768V probably damaging Het
Myo6 A T 9: 80,260,877 Q441L probably benign Het
Nt5c3b A T 11: 100,436,219 Y84N probably damaging Het
Olfr389 A G 11: 73,776,463 F288S probably damaging Het
Paxx A G 2: 25,460,184 L137P probably damaging Het
Ptprz1 T C 6: 22,972,835 V248A probably damaging Het
Rif1 T A 2: 52,112,137 C1868S probably damaging Het
Sec23a A T 12: 58,986,105 C403S probably benign Het
Skint4 G A 4: 112,118,235 V131I probably benign Het
Sugp2 T C 8: 70,243,187 V270A possibly damaging Het
Tmed9 A G 13: 55,595,508 D151G possibly damaging Het
Uaca A G 9: 60,869,866 R512G probably damaging Het
Unc80 A G 1: 66,637,010 Y1999C possibly damaging Het
Vwf T A 6: 125,663,560 C2320S probably 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 0.00
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
IGL03333:Tubgcp4 APN 2 121196173 unclassified probably null
FR4589:Tubgcp4 UTSW 2 121175463 critical splice donor site probably benign
G5030:Tubgcp4 UTSW 2 121184334 missense probably damaging 1.00
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
Posted On2016-08-02