Incidental Mutation 'IGL02426:Tubal3'
ID 292898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubal3
Ensembl Gene ENSMUSG00000021216
Gene Name tubulin, alpha-like 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # IGL02426
Quality Score
Status
Chromosome 13
Chromosomal Location 3974695-3985277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3982750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 177 (S177P)
Ref Sequence ENSEMBL: ENSMUSP00000021639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021639]
AlphaFold Q3UX10
Predicted Effect probably damaging
Transcript: ENSMUST00000021639
AA Change: S177P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021639
Gene: ENSMUSG00000021216
AA Change: S177P

DomainStartEndE-ValueType
Tubulin 56 253 9.39e-66 SMART
Tubulin_C 255 400 8.93e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223035
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,157,675 (GRCm39) T1294M probably damaging Het
Bad A G 19: 6,928,785 (GRCm39) S128G probably damaging Het
Casp9 T G 4: 141,539,515 (GRCm39) probably null Het
Ccdc39 T C 3: 33,879,547 (GRCm39) K507R possibly damaging Het
Cep76 A G 18: 67,767,987 (GRCm39) S182P probably benign Het
Cmklr2 T C 1: 63,222,827 (GRCm39) Y136C probably damaging Het
Cmtr2 A G 8: 110,948,322 (GRCm39) M211V possibly damaging Het
Cobl T A 11: 12,204,351 (GRCm39) K777* probably null Het
Cul9 T G 17: 46,834,184 (GRCm39) T1253P possibly damaging Het
Dmd T A X: 83,892,342 (GRCm39) L3002H probably damaging Het
Dnah9 C T 11: 66,015,979 (GRCm39) V421I probably benign Het
Eif4a2 A G 16: 22,929,399 (GRCm39) I234V probably benign Het
Epha4 T C 1: 77,421,514 (GRCm39) M323V probably benign Het
Fam47c A G X: 77,781,943 (GRCm39) D175G probably benign Het
Gm14178 T C 11: 99,638,341 (GRCm39) Het
Hes3 T C 4: 152,371,397 (GRCm39) N184S probably benign Het
Kdm6a A G X: 18,112,549 (GRCm39) E45G probably damaging Het
Kdr T C 5: 76,135,126 (GRCm39) K33E probably benign Het
Or2a52 A C 6: 43,144,022 (GRCm39) D10A probably benign Het
Or4k37 A T 2: 111,158,920 (GRCm39) D52V probably damaging Het
Or4k45 A T 2: 111,394,883 (GRCm39) I302K probably benign Het
Or52n4b A G 7: 108,144,187 (GRCm39) T150A probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pi4ka A T 16: 17,196,296 (GRCm39) probably benign Het
Pigk T A 3: 152,448,120 (GRCm39) probably null Het
Pikfyve A G 1: 65,290,771 (GRCm39) T1197A possibly damaging Het
Plppr4 T C 3: 117,115,944 (GRCm39) I638V probably benign Het
Pramel28 T C 4: 143,693,229 (GRCm39) D83G possibly damaging Het
Rtl9 T C X: 141,886,098 (GRCm39) V1170A probably damaging Het
Ryr3 A G 2: 112,731,250 (GRCm39) S687P possibly damaging Het
Skint5 T C 4: 113,797,981 (GRCm39) T201A probably benign Het
Socs5 G T 17: 87,442,320 (GRCm39) R420L probably damaging Het
Sos1 C T 17: 80,742,372 (GRCm39) S385N possibly damaging Het
Tomm34 A T 2: 163,906,875 (GRCm39) V106D probably damaging Het
Wbp2nl G A 15: 82,190,374 (GRCm39) A101T probably damaging Het
Other mutations in Tubal3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Tubal3 APN 13 3,983,015 (GRCm39) missense probably damaging 1.00
IGL02053:Tubal3 APN 13 3,983,159 (GRCm39) missense probably damaging 0.97
IGL02120:Tubal3 APN 13 3,980,675 (GRCm39) missense probably damaging 0.96
IGL02548:Tubal3 APN 13 3,980,554 (GRCm39) missense probably benign 0.05
IGL02981:Tubal3 APN 13 3,983,257 (GRCm39) missense probably benign 0.02
R0458:Tubal3 UTSW 13 3,983,137 (GRCm39) missense probably damaging 1.00
R1626:Tubal3 UTSW 13 3,982,841 (GRCm39) missense probably damaging 1.00
R1657:Tubal3 UTSW 13 3,983,011 (GRCm39) missense possibly damaging 0.87
R2084:Tubal3 UTSW 13 3,978,192 (GRCm39) missense possibly damaging 0.62
R3545:Tubal3 UTSW 13 3,983,560 (GRCm39) makesense probably null
R3976:Tubal3 UTSW 13 3,982,946 (GRCm39) missense probably benign
R4700:Tubal3 UTSW 13 3,983,514 (GRCm39) missense probably damaging 0.99
R4722:Tubal3 UTSW 13 3,978,185 (GRCm39) missense probably damaging 1.00
R5617:Tubal3 UTSW 13 3,983,432 (GRCm39) missense probably damaging 1.00
R6474:Tubal3 UTSW 13 3,983,107 (GRCm39) missense probably benign 0.10
R7049:Tubal3 UTSW 13 3,982,756 (GRCm39) missense probably damaging 1.00
R7082:Tubal3 UTSW 13 3,983,050 (GRCm39) missense possibly damaging 0.56
R7273:Tubal3 UTSW 13 3,980,675 (GRCm39) missense probably damaging 0.96
R7586:Tubal3 UTSW 13 3,978,198 (GRCm39) missense possibly damaging 0.78
R8805:Tubal3 UTSW 13 3,983,293 (GRCm39) missense probably damaging 1.00
R8921:Tubal3 UTSW 13 3,983,428 (GRCm39) missense probably damaging 1.00
R9043:Tubal3 UTSW 13 3,982,708 (GRCm39) nonsense probably null
R9173:Tubal3 UTSW 13 3,983,050 (GRCm39) missense possibly damaging 0.86
R9487:Tubal3 UTSW 13 3,980,674 (GRCm39) missense probably benign 0.03
Z1088:Tubal3 UTSW 13 3,983,511 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16