Incidental Mutation 'R5271:Tubg1'
ID 400329
Institutional Source Beutler Lab
Gene Symbol Tubg1
Ensembl Gene ENSMUSG00000035198
Gene Name tubulin, gamma 1
Synonyms 1500010O08Rik
MMRRC Submission 042861-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5271 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101010764-101017245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101011064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 15 (N15K)
Ref Sequence ENSEMBL: ENSMUSP00000048036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000043680] [ENSMUST00000107295]
AlphaFold P83887
Predicted Effect probably benign
Transcript: ENSMUST00000017946
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 186 208 N/A INTRINSIC
low complexity region 376 397 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000043680
AA Change: N15K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048036
Gene: ENSMUSG00000035198
AA Change: N15K

DomainStartEndE-ValueType
Tubulin 48 247 2.05e-57 SMART
Tubulin_C 249 393 5.65e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107295
SMART Domains Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 195 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154513
Meta Mutation Damage Score 0.9445 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality and growth arrest at the blastocyst stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,496 (GRCm39) K33R possibly damaging Het
4632415L05Rik C T 3: 19,949,311 (GRCm39) noncoding transcript Het
4930542C16Rik A C 14: 24,665,598 (GRCm39) noncoding transcript Het
Adprh A T 16: 38,266,416 (GRCm39) L242* probably null Het
Anapc1 G A 2: 128,527,905 (GRCm39) Q18* probably null Het
Bfar T C 16: 13,510,261 (GRCm39) probably benign Het
Bmp1 T C 14: 70,745,568 (GRCm39) I206V probably benign Het
Cc2d1b T A 4: 108,480,826 (GRCm39) probably benign Het
Clock A G 5: 76,389,801 (GRCm39) I349T probably damaging Het
Cox11 A G 11: 90,534,558 (GRCm39) Y60C probably damaging Het
Cyp1a1 G A 9: 57,610,121 (GRCm39) V512M probably benign Het
Dcdc2a T C 13: 25,371,671 (GRCm39) F311S probably benign Het
Dnase1l3 T C 14: 7,993,843 (GRCm38) D48G probably damaging Het
Engase G T 11: 118,372,223 (GRCm39) A172S probably damaging Het
F2 T C 2: 91,465,466 (GRCm39) probably benign Het
Galnt2l A G 8: 122,997,872 (GRCm39) probably benign Het
Gcc2 T C 10: 58,105,517 (GRCm39) V215A possibly damaging Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm20671 T C 5: 32,977,303 (GRCm39) K1817R possibly damaging Het
Gm20939 T A 17: 95,184,583 (GRCm39) Y410* probably null Het
Gm27013 T C 6: 130,653,878 (GRCm39) Y528C probably damaging Het
Il23r T C 6: 67,400,680 (GRCm39) H550R probably benign Het
Iqgap1 A T 7: 80,383,896 (GRCm39) V1056E probably damaging Het
Lrit3 T A 3: 129,581,950 (GRCm39) Y679F probably damaging Het
Megf8 A T 7: 25,041,131 (GRCm39) E1120V probably damaging Het
Mta1 A G 12: 113,095,577 (GRCm39) E518G probably damaging Het
Myo9a A G 9: 59,814,665 (GRCm39) I2200M probably damaging Het
Ncoa7 T C 10: 30,598,725 (GRCm39) H66R probably benign Het
Ncor1 A G 11: 62,231,371 (GRCm39) V812A probably damaging Het
Ndnf T C 6: 65,680,650 (GRCm39) Y310H possibly damaging Het
Ndst1 G A 18: 60,838,204 (GRCm39) T347I probably benign Het
Or10a3m T C 7: 108,313,424 (GRCm39) L276S probably damaging Het
Or4c15b A T 2: 89,113,297 (GRCm39) F60Y probably benign Het
Pcdhb10 C A 18: 37,546,222 (GRCm39) Q433K probably benign Het
Pcdhb18 G A 18: 37,624,649 (GRCm39) V660M possibly damaging Het
Pds5b T A 5: 150,646,818 (GRCm39) N202K possibly damaging Het
Pira12 A T 7: 3,900,566 (GRCm39) Y61* probably null Het
Polk T C 13: 96,620,047 (GRCm39) S718G probably benign Het
Ptpdc1 T C 13: 48,744,174 (GRCm39) D149G probably damaging Het
Rb1cc1 T A 1: 6,319,417 (GRCm39) C35* probably null Het
Samd9l C T 6: 3,376,156 (GRCm39) M368I probably benign Het
Shroom3 T C 5: 93,110,107 (GRCm39) M1739T probably damaging Het
Slc18a3 A G 14: 32,185,705 (GRCm39) L226P probably damaging Het
St7l A T 3: 104,775,376 (GRCm39) Y84F probably damaging Het
Svil A T 18: 5,062,329 (GRCm39) N392I probably benign Het
Syngr1 T A 15: 79,982,240 (GRCm39) M9K probably benign Het
Taar2 T C 10: 23,816,930 (GRCm39) S157P probably damaging Het
Tagap1 G T 17: 7,223,495 (GRCm39) Y400* probably null Het
Tbc1d8 T A 1: 39,412,848 (GRCm39) E976V probably damaging Het
Tmem163 G A 1: 127,419,289 (GRCm39) probably benign Het
Tnfaip2 A G 12: 111,414,894 (GRCm39) probably benign Het
Ttn C T 2: 76,536,861 (GRCm39) S34988N possibly damaging Het
Unc93a2 T C 17: 7,637,081 (GRCm39) N149S possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zap70 T A 1: 36,820,446 (GRCm39) V547D probably damaging Het
Zfp146 G T 7: 29,861,900 (GRCm39) N47K probably benign Het
Znrf1 T G 8: 112,335,976 (GRCm39) M159R probably benign Het
Other mutations in Tubg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0599:Tubg1 UTSW 11 101,016,162 (GRCm39) missense probably benign 0.32
R4090:Tubg1 UTSW 11 101,015,364 (GRCm39) missense possibly damaging 0.92
R4368:Tubg1 UTSW 11 101,016,190 (GRCm39) splice site probably null
R5590:Tubg1 UTSW 11 101,014,858 (GRCm39) missense probably damaging 1.00
R6564:Tubg1 UTSW 11 101,011,715 (GRCm39) missense probably damaging 0.98
R7967:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R7968:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R7971:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R7973:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R8017:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R8018:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R8019:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R8044:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R8046:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R8055:Tubg1 UTSW 11 101,014,828 (GRCm39) missense probably damaging 1.00
R8104:Tubg1 UTSW 11 101,014,854 (GRCm39) missense probably benign 0.07
R8678:Tubg1 UTSW 11 101,015,264 (GRCm39) missense probably benign
R9104:Tubg1 UTSW 11 101,015,099 (GRCm39) missense probably benign 0.07
R9135:Tubg1 UTSW 11 101,014,257 (GRCm39) missense probably damaging 0.97
R9274:Tubg1 UTSW 11 101,017,241 (GRCm39) utr 3 prime probably benign
R9483:Tubg1 UTSW 11 101,016,886 (GRCm39) missense probably damaging 1.00
R9493:Tubg1 UTSW 11 101,017,003 (GRCm39) missense probably damaging 0.99
R9494:Tubg1 UTSW 11 101,011,724 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCATCTGCAGAACCCAGC -3'
(R):5'- ATTAGCCTTGGGACTCCCTAGTG -3'

Sequencing Primer
(F):5'- GAACCCAGCTCCCATTGG -3'
(R):5'- CCTAGTGTCTAGGCCAATGACTG -3'
Posted On 2016-07-06