Incidental Mutation 'IGL02961:Togaram1'
ID365366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Togaram1
Ensembl Gene ENSMUSG00000035614
Gene NameTOG array regulator of axonemal microtubules 1
SynonymsFam179b, A430041B07Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.737) question?
Stock #IGL02961
Quality Score
Status
Chromosome12
Chromosomal Location64965804-65022573 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64966710 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 245 (D245G)
Ref Sequence ENSEMBL: ENSMUSP00000152616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021331] [ENSMUST00000066296] [ENSMUST00000222508] [ENSMUST00000223166]
Predicted Effect probably benign
Transcript: ENSMUST00000021331
SMART Domains Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948

DomainStartEndE-ValueType
BTB 35 132 3.55e-30 SMART
BACK 137 239 1.83e-36 SMART
Kelch 284 331 3.52e-4 SMART
Kelch 332 386 4.23e-7 SMART
Kelch 387 433 1.99e-12 SMART
Kelch 434 479 1.64e-13 SMART
Kelch 480 526 5.12e-15 SMART
Kelch 527 571 5.29e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066296
AA Change: D245G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: D245G

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 61 77 N/A INTRINSIC
low complexity region 79 92 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
low complexity region 115 132 N/A INTRINSIC
TOG 339 574 3.38e-23 SMART
low complexity region 804 815 N/A INTRINSIC
low complexity region 988 1001 N/A INTRINSIC
low complexity region 1011 1024 N/A INTRINSIC
low complexity region 1033 1041 N/A INTRINSIC
coiled coil region 1177 1206 N/A INTRINSIC
TOG 1251 1486 4.37e-8 SMART
TOG 1533 1776 1.53e-12 SMART
Predicted Effect unknown
Transcript: ENSMUST00000221836
AA Change: D218G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221957
Predicted Effect probably benign
Transcript: ENSMUST00000222508
Predicted Effect probably damaging
Transcript: ENSMUST00000223166
AA Change: D245G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,523,612 V2288A probably damaging Het
Agbl4 T A 4: 110,580,121 N76K probably damaging Het
AI182371 A T 2: 35,086,112 V258E possibly damaging Het
Alg1 T A 16: 5,234,997 N80K probably benign Het
Ambra1 A G 2: 91,911,448 M963V possibly damaging Het
Avil C A 10: 127,008,306 Q245K probably benign Het
Caml A G 13: 55,631,882 N256S probably benign Het
Ccdc102a A C 8: 94,903,350 I521S possibly damaging Het
Ccm2l A G 2: 153,078,601 T393A probably benign Het
Cdh16 A G 8: 104,615,205 V91A probably damaging Het
Chd7 A G 4: 8,751,542 D13G probably damaging Het
Chsy1 T A 7: 66,171,782 D588E probably benign Het
Cilp T A 9: 65,278,609 V662E possibly damaging Het
Cog8 A G 8: 107,056,253 probably benign Het
Cpb2 T C 14: 75,265,383 V134A probably benign Het
Ctcfl T A 2: 173,101,919 H546L possibly damaging Het
Dclre1c A G 2: 3,437,033 D136G probably damaging Het
Dnah2 T A 11: 69,518,414 E379D probably damaging Het
Extl3 A G 14: 65,056,959 Y808H possibly damaging Het
Gm7247 T A 14: 51,365,355 N49K probably damaging Het
Gm8882 A T 6: 132,361,408 F282L unknown Het
Insr T C 8: 3,258,785 I84V probably benign Het
Ipo7 C T 7: 110,047,016 P541S probably benign Het
Kcnc3 T C 7: 44,591,492 S203P probably damaging Het
Myo5a A G 9: 75,215,120 D1732G probably benign Het
Olfr1419 T A 19: 11,870,331 N295I probably damaging Het
Olfr153 A G 2: 87,532,684 Y217C probably damaging Het
Olfr493 T C 7: 108,346,127 I285V probably benign Het
Olfr646 C A 7: 104,107,150 Y290* probably null Het
Olfr986 T C 9: 40,187,601 V162A probably benign Het
Pde3a T A 6: 141,459,700 L426* probably null Het
Pkd1 T A 17: 24,578,115 D8E possibly damaging Het
Polr3a A T 14: 24,467,040 Y714* probably null Het
Pramef25 T C 4: 143,949,147 T370A probably damaging Het
Rasgrf1 T C 9: 89,981,649 V556A possibly damaging Het
Rev3l T C 10: 39,827,945 Y1996H possibly damaging Het
Rttn T C 18: 89,053,573 L1248P probably damaging Het
Slc11a1 T C 1: 74,377,173 L53P probably damaging Het
Slc22a27 T C 19: 7,926,521 R84G probably damaging Het
Sptbn4 A G 7: 27,397,967 L1302P probably damaging Het
Srm T C 4: 148,594,129 V271A possibly damaging Het
Sycp2 A G 2: 178,380,862 I492T probably benign Het
Tmprss13 A G 9: 45,345,003 T472A probably damaging Het
Vmn1r184 A T 7: 26,267,650 I274L probably benign Het
Vmn1r21 T C 6: 57,843,989 M157V probably benign Het
Wdr90 C A 17: 25,848,675 E1420* probably null Het
Zfp518a A T 19: 40,915,018 R1130S probably benign Het
Other mutations in Togaram1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Togaram1 APN 12 65006399 missense probably damaging 1.00
IGL01128:Togaram1 APN 12 64980876 missense probably benign 0.01
IGL01406:Togaram1 APN 12 64995578 missense possibly damaging 0.81
IGL01534:Togaram1 APN 12 64966547 missense probably damaging 0.99
IGL01569:Togaram1 APN 12 64982662 missense possibly damaging 0.81
IGL01927:Togaram1 APN 12 64976702 missense probably benign 0.31
IGL02066:Togaram1 APN 12 64983421 missense probably damaging 1.00
IGL02746:Togaram1 APN 12 64966496 nonsense probably null
IGL02878:Togaram1 APN 12 64992626 missense possibly damaging 0.60
IGL02947:Togaram1 APN 12 65021500 missense probably damaging 1.00
PIT4810001:Togaram1 UTSW 12 64983512 missense probably damaging 1.00
R0483:Togaram1 UTSW 12 65007031 missense probably damaging 1.00
R0519:Togaram1 UTSW 12 64966002 unclassified probably benign
R0584:Togaram1 UTSW 12 64967505 missense probably damaging 1.00
R0646:Togaram1 UTSW 12 65021466 missense probably damaging 1.00
R0749:Togaram1 UTSW 12 64982698 missense possibly damaging 0.87
R0891:Togaram1 UTSW 12 64982647 missense probably benign 0.01
R1111:Togaram1 UTSW 12 65006341 missense probably damaging 1.00
R1349:Togaram1 UTSW 12 65011145 missense probably damaging 0.99
R1531:Togaram1 UTSW 12 64966265 missense probably benign 0.01
R1618:Togaram1 UTSW 12 64967073 missense possibly damaging 0.47
R1672:Togaram1 UTSW 12 65021568 missense probably benign 0.00
R1789:Togaram1 UTSW 12 65002635 missense possibly damaging 0.47
R1822:Togaram1 UTSW 12 64995635 missense probably damaging 0.98
R1930:Togaram1 UTSW 12 64966935 missense probably damaging 1.00
R1931:Togaram1 UTSW 12 64966935 missense probably damaging 1.00
R2006:Togaram1 UTSW 12 65019140 missense probably damaging 1.00
R2018:Togaram1 UTSW 12 65002659 missense possibly damaging 0.76
R2304:Togaram1 UTSW 12 64976856 splice site probably null
R2345:Togaram1 UTSW 12 65008632 missense probably benign 0.05
R2407:Togaram1 UTSW 12 64967670 missense probably damaging 1.00
R2853:Togaram1 UTSW 12 65016612 missense probably benign 0.40
R3123:Togaram1 UTSW 12 64966344 missense probably damaging 1.00
R3124:Togaram1 UTSW 12 64966344 missense probably damaging 1.00
R3125:Togaram1 UTSW 12 64966344 missense probably damaging 1.00
R3693:Togaram1 UTSW 12 64983509 missense probably benign 0.34
R3857:Togaram1 UTSW 12 64980859 missense possibly damaging 0.64
R3870:Togaram1 UTSW 12 65002645 missense probably benign 0.00
R3871:Togaram1 UTSW 12 65002645 missense probably benign 0.00
R4398:Togaram1 UTSW 12 64980856 missense probably benign
R4578:Togaram1 UTSW 12 65020326 missense probably damaging 1.00
R4579:Togaram1 UTSW 12 64967907 missense probably damaging 1.00
R4621:Togaram1 UTSW 12 64982450 missense possibly damaging 0.87
R4623:Togaram1 UTSW 12 64982450 missense possibly damaging 0.87
R4655:Togaram1 UTSW 12 64967120 missense possibly damaging 0.91
R5080:Togaram1 UTSW 12 64983403 missense probably benign 0.02
R5459:Togaram1 UTSW 12 64967736 missense probably damaging 1.00
R5652:Togaram1 UTSW 12 65016650 missense probably benign 0.13
R5857:Togaram1 UTSW 12 64995557 missense possibly damaging 0.64
R5997:Togaram1 UTSW 12 64995538 missense probably benign 0.00
R6090:Togaram1 UTSW 12 64967801 missense probably benign 0.07
R6117:Togaram1 UTSW 12 64967487 missense probably damaging 1.00
R6221:Togaram1 UTSW 12 64966546 missense probably damaging 1.00
R6505:Togaram1 UTSW 12 64966590 missense possibly damaging 0.78
R6545:Togaram1 UTSW 12 64978207 missense possibly damaging 0.90
R6706:Togaram1 UTSW 12 65002609 missense probably benign 0.16
R7041:Togaram1 UTSW 12 65020386 missense possibly damaging 0.76
R7199:Togaram1 UTSW 12 64995518 missense probably benign
R7284:Togaram1 UTSW 12 65008680 missense probably benign 0.09
R7451:Togaram1 UTSW 12 64996975 missense probably damaging 1.00
R7504:Togaram1 UTSW 12 64992617 missense not run
R7560:Togaram1 UTSW 12 65011142 missense not run
X0021:Togaram1 UTSW 12 64966184 missense probably benign 0.00
Posted On2015-12-18