Incidental Mutation 'R4676:Tubgcp3'
ID 349577
Institutional Source Beutler Lab
Gene Symbol Tubgcp3
Ensembl Gene ENSMUSG00000000759
Gene Name tubulin, gamma complex component 3
Synonyms GCP3, Spc98p
MMRRC Submission 042013-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R4676 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 12664277-12722141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12700171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 338 (S338T)
Ref Sequence ENSEMBL: ENSMUSP00000127741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000776] [ENSMUST00000164774]
AlphaFold P58854
Predicted Effect probably benign
Transcript: ENSMUST00000000776
AA Change: S338T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: S338T

DomainStartEndE-ValueType
low complexity region 152 171 N/A INTRINSIC
Pfam:Spc97_Spc98 251 761 9.5e-124 PFAM
coiled coil region 787 814 N/A INTRINSIC
low complexity region 821 827 N/A INTRINSIC
low complexity region 890 903 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164774
AA Change: S338T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759
AA Change: S338T

DomainStartEndE-ValueType
low complexity region 152 171 N/A INTRINSIC
Pfam:Spc97_Spc98 251 361 3.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164971
Predicted Effect probably benign
Transcript: ENSMUST00000165321
SMART Domains Protein: ENSMUSP00000131051
Gene: ENSMUSG00000000759

DomainStartEndE-ValueType
low complexity region 35 54 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167547
Predicted Effect probably benign
Transcript: ENSMUST00000172056
Meta Mutation Damage Score 0.2121 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (93/95)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,078,382 (GRCm39) I13N probably damaging Het
Abcd3 T A 3: 121,567,815 (GRCm39) T409S possibly damaging Het
Acad12 C A 5: 121,745,234 (GRCm39) W317L probably damaging Het
Acap1 T A 11: 69,780,294 (GRCm39) M50L probably benign Het
Acvr1b T A 15: 101,100,867 (GRCm39) V343E probably damaging Het
Adgb C A 10: 10,302,454 (GRCm39) G371W probably damaging Het
Akap9 A G 5: 4,082,774 (GRCm39) K1966R probably damaging Het
Akap9 C T 5: 4,114,515 (GRCm39) Q48* probably null Het
Ano10 T C 9: 122,092,853 (GRCm39) R159G probably damaging Het
Anxa7 T C 14: 20,517,983 (GRCm39) M128V probably benign Het
Arhgef40 C A 14: 52,228,416 (GRCm39) C554* probably null Het
Atf6 T C 1: 170,614,979 (GRCm39) Y538C probably damaging Het
Atp8b1 A C 18: 64,671,749 (GRCm39) D1091E probably benign Het
BC034090 A G 1: 155,102,010 (GRCm39) Y85H possibly damaging Het
Bcas2 A G 3: 103,083,017 (GRCm39) probably benign Het
Bnc2 T C 4: 84,211,056 (GRCm39) N463D probably damaging Het
Capn7 A T 14: 31,081,216 (GRCm39) H411L possibly damaging Het
Cavin3 T C 7: 105,130,320 (GRCm39) E164G probably damaging Het
Ccdc191 T C 16: 43,759,536 (GRCm39) probably benign Het
Ccdc88b A G 19: 6,830,368 (GRCm39) V858A probably benign Het
Clcn3 A G 8: 61,383,685 (GRCm39) probably benign Het
Commd6 T C 14: 101,877,720 (GRCm39) probably benign Het
Cspg4b C A 13: 113,505,341 (GRCm39) L2157I probably damaging Het
Cspg4b T G 13: 113,505,342 (GRCm39) L2157R probably damaging Het
Cul3 G A 1: 80,249,391 (GRCm39) L561F probably damaging Het
Cyfip1 T A 7: 55,524,761 (GRCm39) I131N probably damaging Het
Dlgap3 T A 4: 127,127,554 (GRCm39) Y741N probably damaging Het
Dnaaf10 T C 11: 17,179,794 (GRCm39) V265A probably benign Het
Dnah5 A T 15: 28,295,406 (GRCm39) I1380F possibly damaging Het
Dync1h1 G T 12: 110,628,975 (GRCm39) L4177F probably damaging Het
Ethe1 G A 7: 24,307,319 (GRCm39) V178M probably damaging Het
Flnc A T 6: 29,445,153 (GRCm39) probably null Het
Get3 C T 8: 85,745,502 (GRCm39) A219T probably benign Het
Glt8d1 T C 14: 30,728,649 (GRCm39) F26L probably benign Het
Gm5493 T A 17: 22,967,054 (GRCm39) D63E probably benign Het
Gm9996 T A 10: 29,019,834 (GRCm39) probably benign Het
Gnl2 T G 4: 124,947,266 (GRCm39) S629R possibly damaging Het
Gpbp1l1 T C 4: 116,447,462 (GRCm39) S381P probably damaging Het
Igsf10 A C 3: 59,233,370 (GRCm39) F1788V probably benign Het
Inpp5d C A 1: 87,642,864 (GRCm39) P935Q probably damaging Het
Itch A C 2: 155,041,355 (GRCm39) I468L probably benign Het
Itga5 A T 15: 103,265,637 (GRCm39) Y192N probably damaging Het
Itih3 T A 14: 30,640,906 (GRCm39) Q302L probably null Het
Itih3 T A 14: 30,643,643 (GRCm39) Q121L possibly damaging Het
Kctd17 T A 15: 78,319,959 (GRCm39) probably benign Het
Lsm1 T C 8: 26,283,717 (GRCm39) L43P probably damaging Het
Magi3 A T 3: 103,923,141 (GRCm39) M1192K probably benign Het
Mecom A G 3: 30,322,817 (GRCm39) probably benign Het
Minar1 A G 9: 89,483,606 (GRCm39) V597A probably damaging Het
Mtmr3 A T 11: 4,477,855 (GRCm39) F63Y probably benign Het
Naa16 A G 14: 79,573,788 (GRCm39) probably benign Het
Neto1 A T 18: 86,416,427 (GRCm39) T45S possibly damaging Het
Nlrp4a A T 7: 26,149,654 (GRCm39) R420S probably damaging Het
Nr1h4 T C 10: 89,309,736 (GRCm39) D317G probably damaging Het
Or8b53 A G 9: 38,666,955 (GRCm39) probably benign Het
Or9i16 C T 19: 13,864,765 (GRCm39) D270N probably damaging Het
Or9q2 T A 19: 13,772,838 (GRCm39) I46F possibly damaging Het
Pde5a A T 3: 122,541,542 (GRCm39) M11L possibly damaging Het
Plxnb1 G A 9: 108,939,503 (GRCm39) R1416Q possibly damaging Het
Polm A T 11: 5,785,749 (GRCm39) Y141* probably null Het
Rxfp1 A G 3: 79,612,975 (GRCm39) F32L probably damaging Het
Scrt1 T A 15: 76,405,868 (GRCm39) D13V possibly damaging Het
Slc1a7 T A 4: 107,834,871 (GRCm39) V79E possibly damaging Het
Snurf T C 7: 59,645,270 (GRCm39) Q48R probably benign Het
Srek1 T C 13: 103,894,695 (GRCm39) probably benign Het
Stxbp5l T C 16: 37,076,246 (GRCm39) S267G probably damaging Het
Taf5 C T 19: 47,063,409 (GRCm39) R320W probably damaging Het
Tars2 A T 3: 95,660,403 (GRCm39) N106K probably damaging Het
Tatdn3 A T 1: 190,781,531 (GRCm39) L207Q probably damaging Het
Tdrd6 T C 17: 43,938,501 (GRCm39) E849G probably damaging Het
Tedc2 T C 17: 24,438,985 (GRCm39) T111A probably benign Het
Tfg T A 16: 56,514,854 (GRCm39) probably null Het
Tgds A T 14: 118,353,643 (GRCm39) S225T probably benign Het
Tnks2 T A 19: 36,852,671 (GRCm39) Y134* probably null Het
Trappc1 T A 11: 69,216,356 (GRCm39) V134D probably damaging Het
Ttc3 C A 16: 94,243,620 (GRCm39) P853Q probably damaging Het
Ttc7 C A 17: 87,678,163 (GRCm39) probably benign Het
Ttf1 A G 2: 28,964,606 (GRCm39) S643G probably damaging Het
Ugt1a6a T C 1: 88,067,007 (GRCm39) I271T possibly damaging Het
Vipas39 T A 12: 87,288,075 (GRCm39) Y445F probably damaging Het
Vmn1r31 A C 6: 58,448,998 (GRCm39) I289S probably damaging Het
Zfp112 A G 7: 23,825,685 (GRCm39) E551G probably damaging Het
Zfp397 T A 18: 24,093,854 (GRCm39) Y446* probably null Het
Zfp442 A T 2: 150,251,526 (GRCm39) H124Q probably damaging Het
Other mutations in Tubgcp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Tubgcp3 APN 8 12,671,809 (GRCm39) missense probably benign 0.00
IGL00583:Tubgcp3 APN 8 12,671,906 (GRCm39) nonsense probably null
IGL01289:Tubgcp3 APN 8 12,689,625 (GRCm39) missense probably damaging 1.00
IGL01578:Tubgcp3 APN 8 12,711,297 (GRCm39) splice site probably benign
IGL01716:Tubgcp3 APN 8 12,691,094 (GRCm39) splice site probably benign
IGL01943:Tubgcp3 APN 8 12,704,301 (GRCm39) missense probably damaging 1.00
IGL02020:Tubgcp3 APN 8 12,687,780 (GRCm39) missense possibly damaging 0.46
IGL02345:Tubgcp3 APN 8 12,675,056 (GRCm39) missense probably damaging 1.00
IGL02555:Tubgcp3 APN 8 12,689,595 (GRCm39) missense probably benign 0.36
IGL02644:Tubgcp3 APN 8 12,698,733 (GRCm39) missense probably damaging 1.00
IGL02976:Tubgcp3 APN 8 12,682,300 (GRCm39) missense probably damaging 1.00
IGL03240:Tubgcp3 APN 8 12,699,797 (GRCm39) missense probably benign 0.07
IGL03287:Tubgcp3 APN 8 12,689,630 (GRCm39) missense possibly damaging 0.77
Tinky_winky UTSW 8 12,700,171 (GRCm39) missense probably damaging 1.00
R0145:Tubgcp3 UTSW 8 12,707,561 (GRCm39) missense probably benign 0.01
R0379:Tubgcp3 UTSW 8 12,691,116 (GRCm39) missense probably damaging 0.97
R0558:Tubgcp3 UTSW 8 12,703,462 (GRCm39) missense probably benign 0.00
R1490:Tubgcp3 UTSW 8 12,689,550 (GRCm39) missense probably damaging 1.00
R1709:Tubgcp3 UTSW 8 12,689,532 (GRCm39) nonsense probably null
R1768:Tubgcp3 UTSW 8 12,699,686 (GRCm39) unclassified probably benign
R1921:Tubgcp3 UTSW 8 12,671,932 (GRCm39) nonsense probably null
R1928:Tubgcp3 UTSW 8 12,713,988 (GRCm39) missense possibly damaging 0.94
R2161:Tubgcp3 UTSW 8 12,682,292 (GRCm39) missense probably benign 0.22
R3120:Tubgcp3 UTSW 8 12,707,626 (GRCm39) missense possibly damaging 0.51
R3434:Tubgcp3 UTSW 8 12,708,381 (GRCm39) splice site probably null
R4011:Tubgcp3 UTSW 8 12,689,634 (GRCm39) nonsense probably null
R4162:Tubgcp3 UTSW 8 12,689,547 (GRCm39) missense possibly damaging 0.46
R4300:Tubgcp3 UTSW 8 12,707,600 (GRCm39) missense probably damaging 0.99
R4350:Tubgcp3 UTSW 8 12,691,117 (GRCm39) missense probably benign 0.19
R4529:Tubgcp3 UTSW 8 12,713,932 (GRCm39) missense probably damaging 0.98
R4530:Tubgcp3 UTSW 8 12,713,932 (GRCm39) missense probably damaging 0.98
R4531:Tubgcp3 UTSW 8 12,713,932 (GRCm39) missense probably damaging 0.98
R4730:Tubgcp3 UTSW 8 12,707,654 (GRCm39) missense probably benign 0.03
R4828:Tubgcp3 UTSW 8 12,721,987 (GRCm39) missense probably benign
R4860:Tubgcp3 UTSW 8 12,699,722 (GRCm39) missense probably benign 0.03
R4860:Tubgcp3 UTSW 8 12,699,722 (GRCm39) missense probably benign 0.03
R5610:Tubgcp3 UTSW 8 12,689,577 (GRCm39) missense probably damaging 1.00
R5625:Tubgcp3 UTSW 8 12,674,888 (GRCm39) missense possibly damaging 0.46
R5650:Tubgcp3 UTSW 8 12,698,670 (GRCm39) missense probably damaging 0.98
R5775:Tubgcp3 UTSW 8 12,675,056 (GRCm39) missense probably damaging 1.00
R6257:Tubgcp3 UTSW 8 12,699,835 (GRCm39) splice site probably null
R6314:Tubgcp3 UTSW 8 12,698,625 (GRCm39) missense probably benign 0.02
R6970:Tubgcp3 UTSW 8 12,687,000 (GRCm39) missense probably damaging 0.98
R7173:Tubgcp3 UTSW 8 12,689,259 (GRCm39) splice site probably null
R7408:Tubgcp3 UTSW 8 12,711,359 (GRCm39) nonsense probably null
R7502:Tubgcp3 UTSW 8 12,691,207 (GRCm39) missense probably damaging 0.99
R7701:Tubgcp3 UTSW 8 12,705,974 (GRCm39) missense probably benign
R7739:Tubgcp3 UTSW 8 12,707,561 (GRCm39) missense probably benign 0.01
R8169:Tubgcp3 UTSW 8 12,666,099 (GRCm39) missense probably benign
R8327:Tubgcp3 UTSW 8 12,704,343 (GRCm39) missense probably benign 0.11
R8723:Tubgcp3 UTSW 8 12,671,899 (GRCm39) missense probably damaging 0.96
R9212:Tubgcp3 UTSW 8 12,691,200 (GRCm39) missense possibly damaging 0.67
R9393:Tubgcp3 UTSW 8 12,703,411 (GRCm39) missense probably damaging 1.00
R9413:Tubgcp3 UTSW 8 12,674,885 (GRCm39) missense probably damaging 1.00
R9650:Tubgcp3 UTSW 8 12,705,974 (GRCm39) missense probably benign
R9739:Tubgcp3 UTSW 8 12,699,744 (GRCm39) missense probably benign 0.06
R9748:Tubgcp3 UTSW 8 12,699,758 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCACTCTTAGGCTACATGC -3'
(R):5'- CTTGTGATGCTACAGGTCCG -3'

Sequencing Primer
(F):5'- GTCTTCATATGGTAGACAGGACCC -3'
(R):5'- TACAGGTCCGGCATCTCAGTTG -3'
Posted On 2015-10-08