Incidental Mutation 'IGL01140:Ttc30a1'
ID50611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc30a1
Ensembl Gene ENSMUSG00000075271
Gene Nametetratricopeptide repeat domain 30A1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.296) question?
Stock #IGL01140
Quality Score
Status
Chromosome2
Chromosomal Location75978247-75981967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75979915 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 608 (V608A)
Ref Sequence ENSEMBL: ENSMUSP00000097574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]
Predicted Effect probably benign
Transcript: ENSMUST00000099994
AA Change: V608A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: V608A

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.19e1 SMART
TPR 187 220 6.24e1 SMART
coiled coil region 380 411 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099995
SMART Domains Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.77e1 SMART
Blast:TPR 187 224 1e-13 BLAST
coiled coil region 380 405 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,524,867 E187G probably damaging Het
Asap2 T C 12: 21,206,316 V205A probably damaging Het
Atg16l1 A G 1: 87,774,853 I279V probably benign Het
Atp2b2 C T 6: 113,789,971 V436I possibly damaging Het
Cald1 T A 6: 34,762,261 S640T possibly damaging Het
Cdc23 A G 18: 34,636,332 Y460H probably benign Het
Cenpk T A 13: 104,236,234 probably benign Het
Ctss A G 3: 95,538,725 E52G probably damaging Het
Cuzd1 A T 7: 131,311,794 C365S probably damaging Het
Cyp2c55 T C 19: 39,018,649 L163P probably benign Het
Cyp4f37 T C 17: 32,629,053 S182P probably benign Het
Flt4 G T 11: 49,634,943 E740* probably null Het
Galntl6 T A 8: 57,958,322 R291S probably damaging Het
Hydin G A 8: 110,398,062 V568I probably benign Het
Kcnab3 A G 11: 69,329,879 K145R probably benign Het
Lama1 T C 17: 67,802,933 V2183A probably benign Het
Lrmda C T 14: 22,596,517 A75V possibly damaging Het
Mbtd1 A G 11: 93,924,432 E282G probably damaging Het
Muc19 A T 15: 91,899,399 noncoding transcript Het
Mug1 A G 6: 121,882,734 T1231A probably benign Het
Nkpd1 A G 7: 19,523,462 T389A possibly damaging Het
Nudt19 A G 7: 35,547,911 *358Q probably null Het
Nup160 G T 2: 90,700,565 M522I possibly damaging Het
Obsl1 T A 1: 75,489,756 probably benign Het
Olfr1475 G A 19: 13,479,787 T137I possibly damaging Het
Olfr734 T A 14: 50,320,275 I187F probably damaging Het
Olfr994 T C 2: 85,430,140 T230A probably benign Het
Osbpl10 C T 9: 115,176,002 P341S probably benign Het
Papola C A 12: 105,809,597 C7* probably null Het
Pld1 C A 3: 28,078,237 L525I probably benign Het
Prom2 T C 2: 127,531,205 probably benign Het
Psmb5 G A 14: 54,617,807 T62I possibly damaging Het
Sag A G 1: 87,823,364 E184G probably benign Het
Slc16a10 T C 10: 40,076,925 Y191C probably damaging Het
Slc22a22 T C 15: 57,263,338 T93A probably damaging Het
Ssx2ip A G 3: 146,427,843 Y231C probably benign Het
Trib1 A G 15: 59,651,627 Y170C probably damaging Het
Trmt10a G A 3: 138,156,698 probably benign Het
Troap G T 15: 99,082,146 Q402H probably damaging Het
Vmn2r70 G A 7: 85,565,171 Q258* probably null Het
Zfp128 A G 7: 12,891,022 Y439C probably benign Het
Zmym1 A G 4: 127,049,642 F318L probably damaging Het
Zswim2 A G 2: 83,915,328 S589P probably benign Het
Other mutations in Ttc30a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Ttc30a1 APN 2 75981741 unclassified probably benign
IGL01527:Ttc30a1 APN 2 75980516 missense probably benign
IGL01690:Ttc30a1 APN 2 75979933 missense probably benign
IGL01916:Ttc30a1 APN 2 75980879 missense probably damaging 0.98
IGL02342:Ttc30a1 APN 2 75980632 missense probably benign 0.45
IGL02728:Ttc30a1 APN 2 75980849 missense probably benign 0.01
IGL03171:Ttc30a1 APN 2 75980507 missense probably benign 0.00
PIT4677001:Ttc30a1 UTSW 2 75979769 missense possibly damaging 0.60
R0781:Ttc30a1 UTSW 2 75979976 missense probably damaging 0.98
R1110:Ttc30a1 UTSW 2 75979976 missense probably damaging 0.98
R1185:Ttc30a1 UTSW 2 75980352 missense probably damaging 1.00
R1185:Ttc30a1 UTSW 2 75980352 missense probably damaging 1.00
R1750:Ttc30a1 UTSW 2 75980255 missense probably benign 0.21
R2016:Ttc30a1 UTSW 2 75981457 missense probably benign 0.42
R2017:Ttc30a1 UTSW 2 75981457 missense probably benign 0.42
R2020:Ttc30a1 UTSW 2 75980935 missense probably benign
R3606:Ttc30a1 UTSW 2 75981277 missense probably benign 0.06
R4272:Ttc30a1 UTSW 2 75980474 missense probably damaging 1.00
R4600:Ttc30a1 UTSW 2 75980633 missense probably benign 0.26
R4894:Ttc30a1 UTSW 2 75979744 makesense probably null
R4996:Ttc30a1 UTSW 2 75979922 missense probably benign
R5217:Ttc30a1 UTSW 2 75980803 missense probably damaging 1.00
R5721:Ttc30a1 UTSW 2 75981371 missense probably damaging 0.99
R6002:Ttc30a1 UTSW 2 75980777 missense possibly damaging 0.59
R6006:Ttc30a1 UTSW 2 75981488 missense probably benign 0.08
R7316:Ttc30a1 UTSW 2 75980857 missense probably damaging 1.00
R7391:Ttc30a1 UTSW 2 75980015 missense probably benign 0.05
R7494:Ttc30a1 UTSW 2 75979898 missense probably damaging 1.00
Posted On2013-06-21