Incidental Mutation 'IGL02165:Togaram2'
ID282647
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 #IGL02165
Quality Score
Status
Chromosome17
Chromosomal Location71673261-71729669 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71697866 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 305 (K305R)
Ref Sequence ENSEMBL: ENSMUSP00000122691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097284] [ENSMUST00000144479] [ENSMUST00000153445]
Predicted Effect probably benign
Transcript: ENSMUST00000097284
AA Change: K305R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: K305R

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 probably benign
Transcript: ENSMUST00000144479
AA Change: K306R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: K306R

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: K305R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: K305R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,927,186 M199K possibly damaging Het
Abo C A 2: 26,843,429 V255L probably damaging Het
Alas1 A T 9: 106,238,783 M344K probably damaging Het
Ap1m1 A G 8: 72,249,809 I118V probably benign Het
Ap5m1 A T 14: 49,078,728 I252F possibly damaging Het
Arhgef2 G A 3: 88,646,220 R886H probably damaging Het
Atp13a4 T C 16: 29,434,010 E706G probably damaging Het
Baz2a C A 10: 128,119,349 A775E probably benign Het
C3 A T 17: 57,225,092 F210I probably benign Het
Casq1 A G 1: 172,213,381 L280P probably damaging Het
Cebpz A G 17: 78,922,169 F919L probably damaging Het
Dclre1c T A 2: 3,450,381 probably benign Het
Dsc3 T G 18: 19,983,652 M276L probably benign Het
Eftud2 A G 11: 102,851,747 probably benign Het
Elfn2 T A 15: 78,673,418 T310S probably benign Het
Ep300 A G 15: 81,641,391 K1472R probably benign Het
Fbxl2 T C 9: 114,018,031 D8G probably benign Het
Galnt5 T A 2: 57,998,865 M159K probably benign Het
Gm10260 T G 13: 97,760,140 K150T probably benign Het
Gm28048 A T 11: 22,982,072 probably benign Het
Hars2 T A 18: 36,783,394 M1K probably null Het
Hk1 T C 10: 62,281,888 T619A probably damaging Het
Ifi44 C T 3: 151,749,430 V53M probably damaging Het
Ippk T A 13: 49,446,535 V339D possibly damaging Het
Kcnma1 G T 14: 23,336,967 N875K possibly damaging Het
Kdm5a T A 6: 120,415,290 V991E probably damaging Het
Larp6 A G 9: 60,713,312 E36G probably benign Het
Lonp2 A T 8: 86,709,026 D210V probably damaging Het
Lrrc4c G A 2: 97,629,033 M1I probably null Het
Mmp2 A G 8: 92,833,219 K270R probably null Het
Nexmif C T X: 104,084,754 V1186I probably benign Het
Olfr54 A T 11: 51,027,643 I214F probably benign Het
Olfr744 A G 14: 50,619,011 Y263C probably damaging Het
Pld2 T C 11: 70,555,677 L763P probably damaging Het
Pold1 A T 7: 44,538,060 F644L probably damaging Het
Prrc2b T C 2: 32,214,640 S1377P probably damaging Het
Rttn A G 18: 89,043,041 D1111G probably benign Het
Slc27a5 A G 7: 12,994,948 V130A probably damaging Het
Slfn8 T C 11: 83,017,196 R174G probably benign Het
Slitrk6 G A 14: 110,751,817 P153S probably benign Het
Sorcs3 T C 19: 48,654,072 I388T probably benign Het
Star A T 8: 25,812,815 T262S possibly damaging Het
Strn A T 17: 78,687,620 W2R probably damaging Het
Tnmd T C X: 133,862,952 S172P probably damaging Het
Trhde C A 10: 114,592,161 W410L probably damaging Het
Trim5 C T 7: 104,279,359 R125Q probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vmn1r80 T A 7: 12,193,452 M163K probably benign Het
Wdr34 T C 2: 30,032,160 T430A probably benign Het
Wnk4 C A 11: 101,275,291 probably benign Het
Zfp277 T A 12: 40,315,803 I430F possibly damaging Het
Zfp566 A T 7: 30,077,830 C309S probably damaging Het
Zfp740 T G 15: 102,212,674 F141V possibly damaging Het
Zfp87 T A 13: 67,517,870 I158F probably damaging Het
Zswim3 C A 2: 164,821,115 A505D possibly damaging 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
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
IGL03000:Togaram2 APN 17 71717370 missense probably benign 0.08
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 On2015-04-16