Incidental Mutation 'IGL01873:Tubgcp4'
ID 178794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubgcp4
Ensembl Gene ENSMUSG00000027263
Gene Name tubulin, gamma complex component 4
Synonyms 4932441P04Rik, D2Ertd435e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01873
Quality Score
Status
Chromosome 2
Chromosomal Location 121001135-121029251 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 121018665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039541] [ENSMUST00000110657] [ENSMUST00000110658] [ENSMUST00000186659]
AlphaFold Q9D4F8
Predicted Effect probably null
Transcript: ENSMUST00000039541
SMART Domains Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263

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

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

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: ENSMUST00000144076
Predicted Effect probably null
Transcript: ENSMUST00000186659
SMART Domains Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154318
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chd9 A G 8: 91,660,395 (GRCm39) T452A probably benign Het
Coq8a T A 1: 180,006,542 (GRCm39) Q115L probably damaging Het
Cul9 T C 17: 46,813,378 (GRCm39) E2326G probably damaging Het
Cyp2c69 A G 19: 39,869,693 (GRCm39) probably benign Het
Dennd5b A T 6: 148,946,027 (GRCm39) M528K probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gm6665 T C 18: 31,953,355 (GRCm39) S38G probably damaging Het
Gsg1l A G 7: 125,557,615 (GRCm39) V171A probably damaging Het
Ighv5-2 A T 12: 113,542,350 (GRCm39) S42T probably benign Het
Itch C T 2: 155,010,670 (GRCm39) T46I possibly damaging Het
Itsn2 T G 12: 4,682,366 (GRCm39) probably benign Het
Lime1 T C 2: 181,024,667 (GRCm39) V107A probably benign Het
Mertk T C 2: 128,571,195 (GRCm39) S50P possibly damaging Het
Myo5b T A 18: 74,713,467 (GRCm39) V104E probably damaging Het
Nckap1 A T 2: 80,383,729 (GRCm39) I145K possibly damaging Het
Ppp4r3a A T 12: 101,008,094 (GRCm39) I794N possibly damaging Het
Psapl1 C A 5: 36,362,569 (GRCm39) P387Q possibly damaging Het
Ripk1 T A 13: 34,193,707 (GRCm39) L23Q probably damaging Het
Srrm4 G T 5: 116,729,527 (GRCm39) probably benign Het
St6galnac1 T A 11: 116,657,437 (GRCm39) T376S probably damaging Het
Tmem74 T C 15: 43,730,782 (GRCm39) D87G probably benign Het
Trav19 A G 14: 54,083,173 (GRCm39) R83G probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfat T C 15: 68,096,744 (GRCm39) N23S probably benign Het
Other mutations in Tubgcp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Tubgcp4 APN 2 121,009,182 (GRCm39) missense probably damaging 0.99
IGL01112:Tubgcp4 APN 2 121,004,082 (GRCm39) missense probably benign 0.10
IGL01149:Tubgcp4 APN 2 121,015,264 (GRCm39) missense probably null 0.01
IGL01869:Tubgcp4 APN 2 121,006,269 (GRCm39) missense possibly damaging 0.95
IGL01888:Tubgcp4 APN 2 121,015,228 (GRCm39) missense probably benign 0.15
IGL03060:Tubgcp4 APN 2 121,007,071 (GRCm39) splice site probably benign
IGL03333:Tubgcp4 APN 2 121,026,654 (GRCm39) splice site probably null
FR4589:Tubgcp4 UTSW 2 121,005,944 (GRCm39) critical splice donor site probably benign
G5030:Tubgcp4 UTSW 2 121,014,815 (GRCm39) missense probably damaging 1.00
R0482:Tubgcp4 UTSW 2 121,005,855 (GRCm39) missense probably benign 0.02
R0512:Tubgcp4 UTSW 2 121,005,900 (GRCm39) missense probably benign 0.06
R1433:Tubgcp4 UTSW 2 121,005,905 (GRCm39) nonsense probably null
R1488:Tubgcp4 UTSW 2 121,007,031 (GRCm39) missense possibly damaging 0.50
R1699:Tubgcp4 UTSW 2 121,020,374 (GRCm39) nonsense probably null
R1760:Tubgcp4 UTSW 2 121,019,952 (GRCm39) critical splice donor site probably null
R1935:Tubgcp4 UTSW 2 121,009,147 (GRCm39) splice site probably benign
R2249:Tubgcp4 UTSW 2 121,014,110 (GRCm39) missense possibly damaging 0.86
R4093:Tubgcp4 UTSW 2 121,025,958 (GRCm39) missense probably benign 0.01
R4422:Tubgcp4 UTSW 2 121,019,882 (GRCm39) nonsense probably null
R4433:Tubgcp4 UTSW 2 121,014,954 (GRCm39) missense probably benign 0.01
R4541:Tubgcp4 UTSW 2 121,025,907 (GRCm39) missense probably benign 0.01
R4670:Tubgcp4 UTSW 2 121,004,146 (GRCm39) nonsense probably null
R4873:Tubgcp4 UTSW 2 121,015,330 (GRCm39) intron probably benign
R4877:Tubgcp4 UTSW 2 121,020,343 (GRCm39) missense probably benign
R5044:Tubgcp4 UTSW 2 121,004,061 (GRCm39) missense probably damaging 1.00
R5436:Tubgcp4 UTSW 2 121,024,663 (GRCm39) missense probably benign 0.01
R5436:Tubgcp4 UTSW 2 121,018,617 (GRCm39) missense probably damaging 1.00
R5566:Tubgcp4 UTSW 2 121,015,251 (GRCm39) missense possibly damaging 0.61
R6110:Tubgcp4 UTSW 2 121,024,589 (GRCm39) missense probably benign 0.02
R6700:Tubgcp4 UTSW 2 121,020,329 (GRCm39) missense probably benign 0.11
R6980:Tubgcp4 UTSW 2 121,025,946 (GRCm39) missense probably benign 0.28
R6999:Tubgcp4 UTSW 2 121,022,778 (GRCm39) missense probably damaging 1.00
R7338:Tubgcp4 UTSW 2 121,024,465 (GRCm39) missense probably benign 0.02
R7388:Tubgcp4 UTSW 2 121,020,447 (GRCm39) critical splice donor site probably null
R7410:Tubgcp4 UTSW 2 121,014,890 (GRCm39) missense probably damaging 1.00
R8048:Tubgcp4 UTSW 2 121,013,981 (GRCm39) missense probably benign 0.00
R8129:Tubgcp4 UTSW 2 121,004,109 (GRCm39) missense possibly damaging 0.80
R8414:Tubgcp4 UTSW 2 121,024,634 (GRCm39) missense probably benign 0.02
R9006:Tubgcp4 UTSW 2 121,015,251 (GRCm39) missense probably benign 0.35
R9050:Tubgcp4 UTSW 2 121,004,079 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07