Incidental Mutation 'IGL03000:Togaram2'
ID407279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Togaram2
Ensembl Gene ENSMUSG00000045761
Gene NameTOG array regulator of axonemal microtubules 2
SynonymsFam179a, 4632412N22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL03000
Quality Score
Status
Chromosome17
Chromosomal Location71673261-71729669 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71717370 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 830 (S830P)
Ref Sequence ENSEMBL: ENSMUSP00000122691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097284] [ENSMUST00000144479] [ENSMUST00000153445]
Predicted Effect probably benign
Transcript: ENSMUST00000097284
AA Change: S830P

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: S830P

DomainStartEndE-ValueType
low complexity region 49 60 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
low complexity region 467 474 N/A INTRINSIC
Pfam:CLASP_N 492 705 2.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129072
Predicted Effect probably benign
Transcript: ENSMUST00000144479
AA Change: S850P

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: S850P

DomainStartEndE-ValueType
low complexity region 50 61 N/A INTRINSIC
low complexity region 95 106 N/A INTRINSIC
low complexity region 468 475 N/A INTRINSIC
Pfam:CLASP_N 493 706 2.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153445
AA Change: S830P

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: S830P

DomainStartEndE-ValueType
low complexity region 49 60 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
low complexity region 467 474 N/A INTRINSIC
Pfam:CLASP_N 492 705 2.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161407
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,321,800 S445G probably benign Het
Abca5 C T 11: 110,317,814 V226I probably benign Het
Ankrd34c A T 9: 89,729,186 D367E probably benign Het
Bmp6 G T 13: 38,498,911 probably benign Het
Cacna2d2 T C 9: 107,524,198 probably null Het
Cblb T G 16: 52,204,542 D933E probably damaging Het
Ccny A G 18: 9,353,489 S95P probably benign Het
Cep192 A G 18: 67,852,044 I1658V probably damaging Het
Cntn6 A T 6: 104,804,386 T478S probably damaging Het
Cpne7 T C 8: 123,126,696 F247L probably benign Het
Csf1r A G 18: 61,109,652 E29G probably damaging Het
Dctn3 T A 4: 41,719,912 I65F possibly damaging Het
Dock1 A G 7: 134,789,240 E743G probably benign Het
Dus2 C A 8: 106,048,684 T281N probably damaging Het
Gbx1 G T 5: 24,504,926 T307K probably benign Het
Gtf2ird2 A T 5: 134,194,906 N93I probably benign Het
Heatr1 A G 13: 12,434,411 D1930G probably damaging Het
Hif3a T C 7: 17,048,639 I334V probably benign Het
Ints1 G T 5: 139,766,506 N756K probably benign Het
Kcnn2 T C 18: 45,560,568 F404L probably damaging Het
Kmt2c G A 5: 25,284,172 R4590W probably damaging Het
Limk1 A T 5: 134,670,501 V134E probably damaging Het
Mep1a A G 17: 43,474,990 V736A probably benign Het
Mex3a T A 3: 88,536,295 I226N probably damaging Het
Mgl2 A T 11: 70,134,200 K16* probably null Het
Mms22l G T 4: 24,581,161 V864L probably damaging Het
Mroh4 T A 15: 74,616,114 M320L probably benign Het
Mylk3 G A 8: 85,359,177 P243S probably damaging Het
Nbea A C 3: 56,004,627 D1246E possibly damaging Het
Ndnf A G 6: 65,703,315 T193A possibly damaging Het
Nfasc T C 1: 132,621,509 probably benign Het
Olfr421-ps1 A G 1: 174,151,560 T15A probably benign Het
Ptprq A T 10: 107,542,657 F2008I probably damaging Het
Rhag A G 17: 40,828,522 K116R probably benign Het
Rictor T A 15: 6,769,240 probably benign Het
Slc35f5 C A 1: 125,574,742 T277N probably damaging Het
Sorcs2 A G 5: 36,065,331 probably benign Het
Ssh2 T A 11: 77,421,206 probably benign Het
Trim30d T C 7: 104,473,269 T112A probably benign Het
Ttc34 T C 4: 154,865,431 V947A probably damaging Het
Ttn A G 2: 76,812,609 probably benign Het
Ubr5 A T 15: 38,024,852 V560D probably damaging Het
Ush2a A T 1: 188,549,856 E1856V possibly damaging Het
Zfp142 T C 1: 74,573,618 M457V probably benign Het
Zfp711 C T X: 112,624,858 Q137* probably null Het
Zkscan17 T C 11: 59,487,160 Y399C probably damaging Het
Zswim6 T G 13: 107,727,114 noncoding transcript Het
Zswim6 T A 13: 107,727,115 noncoding transcript Het
Other mutations in Togaram2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Togaram2 APN 17 71725004 missense probably damaging 1.00
IGL01298:Togaram2 APN 17 71716513 missense possibly damaging 0.71
IGL01625:Togaram2 APN 17 71714698 missense probably benign 0.06
IGL01691:Togaram2 APN 17 71729490 missense probably null 0.02
IGL02165:Togaram2 APN 17 71697866 missense probably benign 0.00
IGL02186:Togaram2 APN 17 71685171 missense possibly damaging 0.64
IGL02664:Togaram2 APN 17 71729239 missense probably damaging 0.97
IGL02712:Togaram2 APN 17 71704754 missense probably benign 0.04
IGL03209:Togaram2 APN 17 71695745 critical splice donor site probably null
R0211:Togaram2 UTSW 17 71729248 missense probably damaging 1.00
R0212:Togaram2 UTSW 17 71724983 missense probably damaging 1.00
R0219:Togaram2 UTSW 17 71714230 splice site probably benign
R0268:Togaram2 UTSW 17 71697998 critical splice donor site probably null
R0617:Togaram2 UTSW 17 71700509 missense possibly damaging 0.87
R0831:Togaram2 UTSW 17 71716444 missense probably damaging 1.00
R0972:Togaram2 UTSW 17 71707314 missense probably damaging 1.00
R1635:Togaram2 UTSW 17 71697851 missense probably benign 0.05
R1799:Togaram2 UTSW 17 71691455 missense probably damaging 1.00
R2062:Togaram2 UTSW 17 71716365 missense probably benign 0.26
R2414:Togaram2 UTSW 17 71716309 intron probably benign
R2866:Togaram2 UTSW 17 71709597 missense probably benign 0.00
R2867:Togaram2 UTSW 17 71709597 missense probably benign 0.00
R2867:Togaram2 UTSW 17 71709597 missense probably benign 0.00
R4066:Togaram2 UTSW 17 71716238 intron probably benign
R4807:Togaram2 UTSW 17 71697923 missense probably damaging 1.00
R5659:Togaram2 UTSW 17 71687672 missense probably damaging 0.96
R5680:Togaram2 UTSW 17 71689209 missense probably benign 0.00
R5975:Togaram2 UTSW 17 71729205 missense probably damaging 1.00
R5996:Togaram2 UTSW 17 71704783 missense probably damaging 0.99
R6619:Togaram2 UTSW 17 71689271 missense probably damaging 0.99
R6682:Togaram2 UTSW 17 71704754 missense probably benign 0.04
R6922:Togaram2 UTSW 17 71707134 missense probably damaging 1.00
R6956:Togaram2 UTSW 17 71729188 missense probably benign 0.00
R6968:Togaram2 UTSW 17 71709613 missense probably damaging 1.00
R7007:Togaram2 UTSW 17 71709643 missense probably damaging 0.99
R7015:Togaram2 UTSW 17 71709568 missense possibly damaging 0.62
R7140:Togaram2 UTSW 17 71714766 missense probably benign 0.00
R7383:Togaram2 UTSW 17 71700517 missense probably damaging 1.00
R7691:Togaram2 UTSW 17 71716410 missense probably benign 0.16
R7778:Togaram2 UTSW 17 71704751 missense probably benign 0.00
R7824:Togaram2 UTSW 17 71704751 missense probably benign 0.00
R7862:Togaram2 UTSW 17 71689173 missense probably benign 0.00
R7864:Togaram2 UTSW 17 71700940 missense probably damaging 0.96
R7945:Togaram2 UTSW 17 71689173 missense probably benign 0.00
R7947:Togaram2 UTSW 17 71700940 missense probably damaging 0.96
X0063:Togaram2 UTSW 17 71707197 missense possibly damaging 0.91
Z1088:Togaram2 UTSW 17 71714280 missense possibly damaging 0.87
Z1177:Togaram2 UTSW 17 71701002 missense probably damaging 0.98
Posted On2016-08-02