Incidental Mutation 'R1699:Tubgcp4'
ID 192479
Institutional Source Beutler Lab
Gene Symbol Tubgcp4
Ensembl Gene ENSMUSG00000027263
Gene Name tubulin, gamma complex component 4
Synonyms 4932441P04Rik, D2Ertd435e
MMRRC Submission 039732-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1699 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121001135-121029251 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 121020374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 449 (W449*)
Ref Sequence ENSEMBL: ENSMUSP00000140417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039541] [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000110657] [ENSMUST00000110658] [ENSMUST00000186659]
AlphaFold Q9D4F8
Predicted Effect probably null
Transcript: ENSMUST00000039541
AA Change: W450*
SMART Domains Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
AA Change: W450*

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 573 2.8e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110647
SMART Domains Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909

DomainStartEndE-ValueType
low complexity region 136 149 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 647 661 N/A INTRINSIC
low complexity region 1031 1042 N/A INTRINSIC
low complexity region 1099 1112 N/A INTRINSIC
low complexity region 1260 1272 N/A INTRINSIC
low complexity region 1290 1332 N/A INTRINSIC
Pfam:53-BP1_Tudor 1430 1551 2.5e-80 PFAM
low complexity region 1581 1601 N/A INTRINSIC
BRCT 1673 1785 7.13e-1 SMART
BRCT 1813 1901 1.03e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110648
SMART Domains Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909

DomainStartEndE-ValueType
low complexity region 136 149 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 647 661 N/A INTRINSIC
low complexity region 1031 1042 N/A INTRINSIC
low complexity region 1099 1112 N/A INTRINSIC
low complexity region 1260 1272 N/A INTRINSIC
low complexity region 1290 1332 N/A INTRINSIC
low complexity region 1389 1409 N/A INTRINSIC
Pfam:53-BP1_Tudor 1480 1601 1.5e-80 PFAM
low complexity region 1631 1651 N/A INTRINSIC
BRCT 1723 1835 7.13e-1 SMART
BRCT 1863 1951 1.03e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000110657
AA Change: W449*
SMART Domains Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: W449*

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 3.1e-115 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110658
AA Change: W449*
SMART Domains Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
AA Change: W449*

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126817
Predicted Effect probably null
Transcript: ENSMUST00000186659
AA Change: W449*
SMART Domains Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
AA Change: W449*

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143305
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,337,363 (GRCm39) E2406G possibly damaging Het
Adam6b T A 12: 113,454,205 (GRCm39) F341I probably benign Het
Adam8 A T 7: 139,563,224 (GRCm39) N767K possibly damaging Het
Aig1 T C 10: 13,744,366 (GRCm39) D46G possibly damaging Het
Alms1 A G 6: 85,599,862 (GRCm39) I2032V possibly damaging Het
Ankrd16 A G 2: 11,789,204 (GRCm39) I264V probably benign Het
Areg T G 5: 91,291,357 (GRCm39) V100G probably damaging Het
Bcan A G 3: 87,896,543 (GRCm39) Y718H probably damaging Het
Brsk2 T A 7: 141,539,200 (GRCm39) I188N probably damaging Het
Cdt1 T C 8: 123,296,722 (GRCm39) Y203H probably damaging Het
Cfap119 A T 7: 127,186,028 (GRCm39) probably null Het
Chil3 A C 3: 106,067,682 (GRCm39) probably null Het
Ciao2b A G 8: 105,366,718 (GRCm39) V132A probably damaging Het
Cimip2c A G 5: 30,641,210 (GRCm39) probably null Het
Cth A G 3: 157,613,073 (GRCm39) L253P probably damaging Het
Cyp11b1 A G 15: 74,712,666 (GRCm39) F132L possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah11 A G 12: 118,154,603 (GRCm39) S226P probably damaging Het
Egfr A T 11: 16,809,019 (GRCm39) Q71L probably benign Het
Eml6 T A 11: 29,696,282 (GRCm39) K1940* probably null Het
Epn2 T A 11: 61,414,014 (GRCm39) K391* probably null Het
Erich1 A T 8: 14,140,259 (GRCm39) S2T possibly damaging Het
Evi5 A C 5: 107,966,786 (GRCm39) L245R probably damaging Het
Evpl T C 11: 116,118,414 (GRCm39) Y731C probably damaging Het
Exoc3l G A 8: 106,021,645 (GRCm39) H128Y probably benign Het
Extl1 G A 4: 134,091,894 (GRCm39) Q320* probably null Het
Fam91a1 T A 15: 58,304,797 (GRCm39) S416T probably benign Het
Fat3 A T 9: 15,849,694 (GRCm39) S3903T probably damaging Het
Fer1l4 A G 2: 155,871,605 (GRCm39) F1392L probably benign Het
Fstl4 T C 11: 53,059,005 (GRCm39) I488T possibly damaging Het
Gak A T 5: 108,752,243 (GRCm39) Y338* probably null Het
Garin4 T A 1: 190,896,018 (GRCm39) E208D probably benign Het
Glp2r T C 11: 67,648,367 (GRCm39) T112A probably benign Het
Glrb G A 3: 80,769,081 (GRCm39) T180I probably damaging Het
Gm10118 C T 10: 63,762,671 (GRCm39) probably benign Het
Gpr19 A T 6: 134,847,192 (GRCm39) F72I possibly damaging Het
Grin3b C A 10: 79,811,716 (GRCm39) N740K probably damaging Het
Gstk1 A T 6: 42,223,535 (GRCm39) T42S probably benign Het
Hoxd1 G A 2: 74,594,626 (GRCm39) A294T probably benign Het
Hspg2 T A 4: 137,275,323 (GRCm39) probably null Het
Ift74 A T 4: 94,573,940 (GRCm39) N472I probably benign Het
Il1a C T 2: 129,144,813 (GRCm39) D202N probably damaging Het
Islr T C 9: 58,064,778 (GRCm39) D243G probably damaging Het
Kif21a C T 15: 90,843,946 (GRCm39) E1098K probably damaging Het
Krtap16-1 T C 11: 99,876,852 (GRCm39) E184G probably damaging Het
Lrp1b A G 2: 41,075,974 (GRCm39) I1889T possibly damaging Het
Mcpt4 A G 14: 56,297,416 (GRCm39) *247Q probably null Het
Megf10 T C 18: 57,410,802 (GRCm39) probably null Het
Mettl2 T A 11: 105,030,544 (GRCm39) H373Q probably benign Het
Mocos A G 18: 24,816,273 (GRCm39) K617E probably damaging Het
Ms4a8a A G 19: 11,053,761 (GRCm39) I115T probably damaging Het
Ndst1 T C 18: 60,828,580 (GRCm39) Y658C probably damaging Het
Nin G A 12: 70,077,712 (GRCm39) A1031V probably benign Het
Nin C A 12: 70,092,337 (GRCm39) K657N possibly damaging Het
Noc4l G A 5: 110,797,713 (GRCm39) R344* probably null Het
Notch2 T C 3: 98,052,443 (GRCm39) S1980P probably damaging Het
Npat C T 9: 53,473,960 (GRCm39) S584L probably benign Het
Nphp4 A G 4: 152,581,121 (GRCm39) T102A probably damaging Het
Olfml2b A G 1: 170,472,642 (GRCm39) N51S possibly damaging Het
Or2n1e A G 17: 38,585,932 (GRCm39) K90R probably benign Het
Or2y16 T A 11: 49,335,116 (GRCm39) I146N possibly damaging Het
Or5al1 T C 2: 85,990,280 (GRCm39) I145V probably benign Het
Or5w22 A G 2: 87,362,427 (GRCm39) T17A probably benign Het
Pced1b T A 15: 97,282,758 (GRCm39) W266R probably damaging Het
Pdcd6ip A G 9: 113,507,422 (GRCm39) V378A probably damaging Het
Pde8b T A 13: 95,169,374 (GRCm39) K683N probably damaging Het
Pfas T G 11: 68,888,872 (GRCm39) probably null Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcd4 T G 1: 74,587,394 (GRCm39) S51R probably benign Het
Plekhh2 T A 17: 84,884,612 (GRCm39) Y775* probably null Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Ppp4r3b C T 11: 29,163,765 (GRCm39) T47I possibly damaging Het
Pter A T 2: 12,999,572 (GRCm39) D169V probably damaging Het
Ptpn12 A G 5: 21,203,168 (GRCm39) S537P probably benign Het
Ptpru T A 4: 131,506,361 (GRCm39) D1067V probably damaging Het
Rcn1 A T 2: 105,229,350 (GRCm39) D67E probably damaging Het
Rfc4 T C 16: 22,932,983 (GRCm39) E318G probably benign Het
Samd13 C A 3: 146,368,469 (GRCm39) R41L probably benign Het
Shoc1 T C 4: 59,113,926 (GRCm39) K13R unknown Het
Slc6a2 T C 8: 93,699,440 (GRCm39) I156T possibly damaging Het
Spag16 T C 1: 70,036,015 (GRCm39) F348L probably benign Het
Spag4 T C 2: 155,907,342 (GRCm39) Y21H probably damaging Het
Stam2 G A 2: 52,593,187 (GRCm39) A368V possibly damaging Het
Stc1 A T 14: 69,275,776 (GRCm39) M190L probably benign Het
Stxbp1 A G 2: 32,690,629 (GRCm39) L475P probably damaging Het
Syn3 A T 10: 85,916,075 (GRCm39) Y304N probably damaging Het
Tbc1d15 G T 10: 115,056,219 (GRCm39) T251K probably benign Het
Tbpl2 A T 2: 23,985,057 (GRCm39) M29K probably benign Het
Tead3 T G 17: 28,553,698 (GRCm39) Q170H possibly damaging Het
Tpbpb T C 13: 61,049,977 (GRCm39) N51D probably benign Het
Tstd3 A G 4: 21,759,400 (GRCm39) M124T probably benign Het
Ttyh1 T A 7: 4,122,695 (GRCm39) H14Q possibly damaging Het
Txndc11 A G 16: 10,905,639 (GRCm39) probably null Het
Usp24 T A 4: 106,296,024 (GRCm39) D2615E probably damaging Het
Vars1 A G 17: 35,233,734 (GRCm39) E1020G possibly damaging Het
Vmn2r58 A G 7: 41,509,951 (GRCm39) I542T probably benign Het
Vwf A G 6: 125,620,032 (GRCm39) Y1570C probably damaging Het
Vwf A T 6: 125,662,863 (GRCm39) Y2749F possibly damaging Het
Zfand1 A C 3: 10,406,115 (GRCm39) V198G possibly damaging Het
Zfp536 G A 7: 37,268,879 (GRCm39) T179I probably damaging Het
Zfp599 T C 9: 22,161,700 (GRCm39) Y155C 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
IGL01873:Tubgcp4 APN 2 121,018,665 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGCTAGATGACGACAACCTTCTCCC -3'
(R):5'- TCTAGTTCCTGAAGACAGGCCGAG -3'

Sequencing Primer
(F):5'- aggaaggttgagatgctctg -3'
(R):5'- CGAGTCTGCAACCTCTAGC -3'
Posted On 2014-05-14