Incidental Mutation 'R2006:Togaram1'
ID 225606
Institutional Source Beutler Lab
Gene Symbol Togaram1
Ensembl Gene ENSMUSG00000035614
Gene Name TOG array regulator of axonemal microtubules 1
Synonyms A430041B07Rik, Fam179b
MMRRC Submission 040015-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # R2006 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 65012578-65069347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65065914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1639 (D1639E)
Ref Sequence ENSEMBL: ENSMUSP00000152616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066296] [ENSMUST00000223166]
AlphaFold Q6A070
Predicted Effect probably damaging
Transcript: ENSMUST00000066296
AA Change: D1589E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: D1589E

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 noncoding transcript
Transcript: ENSMUST00000222425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222473
Predicted Effect probably damaging
Transcript: ENSMUST00000223166
AA Change: D1639E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,204,275 (GRCm39) F333L probably benign Het
Abcc2 T A 19: 43,793,500 (GRCm39) F384Y probably damaging Het
Acr C T 15: 89,458,404 (GRCm39) P362S probably benign Het
Acss3 T C 10: 106,798,871 (GRCm39) D484G possibly damaging Het
Actrt1 A G X: 45,418,593 (GRCm39) T203A probably benign Het
Agtpbp1 A T 13: 59,648,135 (GRCm39) C562S probably benign Het
Ahnak A G 19: 8,984,439 (GRCm39) K1908E probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Apaf1 A T 10: 90,897,634 (GRCm39) I283N probably damaging Het
Bbx G A 16: 50,044,758 (GRCm39) T493M possibly damaging Het
Best2 C T 8: 85,739,818 (GRCm39) probably null Het
C4bp C A 1: 130,575,769 (GRCm39) E75* probably null Het
Calr3 A T 8: 73,188,695 (GRCm39) V144D probably damaging Het
Capn1 C T 19: 6,041,613 (GRCm39) G632D probably damaging Het
Catsper2 C A 2: 121,236,838 (GRCm39) E270* probably null Het
Ccdc110 A T 8: 46,396,349 (GRCm39) I747F probably damaging Het
Ccdc15 T A 9: 37,226,768 (GRCm39) D389V possibly damaging Het
Cd226 A G 18: 89,265,435 (GRCm39) I125V probably benign Het
Crb2 A T 2: 37,673,446 (GRCm39) D114V probably damaging Het
Crebbp TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 16: 3,902,617 (GRCm39) probably benign Het
Crebrf T C 17: 26,961,857 (GRCm39) V318A possibly damaging Het
Dab1 T C 4: 104,462,522 (GRCm39) I32T probably damaging Het
Daw1 T C 1: 83,169,066 (GRCm39) V181A probably damaging Het
Dlg2 G A 7: 91,614,825 (GRCm39) E255K possibly damaging Het
Dnah10 T A 5: 124,906,651 (GRCm39) D4170E possibly damaging Het
Dnah12 A G 14: 26,536,416 (GRCm39) T2111A possibly damaging Het
Dock10 T C 1: 80,527,506 (GRCm39) Y1081C possibly damaging Het
Dscam T C 16: 96,621,112 (GRCm39) Y532C probably damaging Het
Fam83c T C 2: 155,672,223 (GRCm39) D404G probably benign Het
Fam83g A G 11: 61,593,801 (GRCm39) N445S possibly damaging Het
Ghr C T 15: 3,357,464 (GRCm39) C268Y probably damaging Het
Gm8444 T C 15: 81,727,775 (GRCm39) probably benign Het
Gp6 T A 7: 4,387,988 (GRCm39) K160N probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Gtf3c2 C A 5: 31,325,440 (GRCm39) G450C probably damaging Het
Icosl A T 10: 77,907,787 (GRCm39) M116L possibly damaging Het
Il31ra T G 13: 112,666,890 (GRCm39) Y396S probably damaging Het
Insig1 A G 5: 28,276,464 (GRCm39) N10S probably benign Het
Kcnh2 C A 5: 24,531,568 (GRCm39) G448C probably damaging Het
L1td1 C T 4: 98,621,726 (GRCm39) S96L possibly damaging Het
Mapre3 A T 5: 31,019,168 (GRCm39) N4I probably damaging Het
Mblac2 T A 13: 81,859,860 (GRCm39) D70E probably benign Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mpg A G 11: 32,181,840 (GRCm39) I283V probably benign Het
Mrtfb G T 16: 13,199,440 (GRCm39) E98* probably null Het
Mybpc1 C A 10: 88,381,921 (GRCm39) A576S probably damaging Het
Myo1h T G 5: 114,499,140 (GRCm39) V129G probably damaging Het
Nars1 A T 18: 64,638,099 (GRCm39) V285E probably damaging Het
Nbas T A 12: 13,464,742 (GRCm39) probably null Het
Neb T C 2: 52,089,456 (GRCm39) D5172G probably null Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Nyap1 T C 5: 137,733,953 (GRCm39) H360R possibly damaging Het
Nyx A G X: 13,352,974 (GRCm39) E276G probably damaging Het
Or10ag59 T A 2: 87,405,536 (GRCm39) M36K probably benign Het
Or1e1 G T 11: 73,245,518 (GRCm39) C313F probably benign Het
Or2l13b A G 16: 19,349,455 (GRCm39) Y72H probably benign Het
Or2w6 T C 13: 21,842,642 (GRCm39) T284A possibly damaging Het
Or4c1 A G 2: 89,133,160 (GRCm39) Y259H possibly damaging Het
Or4c118 A T 2: 88,975,241 (GRCm39) V42E probably benign Het
Or5v1b C T 17: 37,841,597 (GRCm39) S243F probably damaging Het
Or7e174 A T 9: 20,012,165 (GRCm39) M37L probably benign Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Or8g23 T A 9: 38,971,729 (GRCm39) T78S probably damaging Het
Paf1 C A 7: 28,095,193 (GRCm39) probably null Het
Pcsk5 T C 19: 17,455,280 (GRCm39) D1050G probably benign Het
Pgap1 A G 1: 54,590,220 (GRCm39) S73P possibly damaging Het
Phtf1 G A 3: 103,911,799 (GRCm39) probably null Het
Pik3c2b G T 1: 132,994,282 (GRCm39) R82L probably damaging Het
Pik3ca T C 3: 32,504,206 (GRCm39) L632P probably damaging Het
Plau G T 14: 20,888,760 (GRCm39) probably null Het
Pld4 A T 12: 112,734,923 (GRCm39) Q460L possibly damaging Het
Prdm2 T A 4: 142,858,447 (GRCm39) Q1614H possibly damaging Het
Ptprq C T 10: 107,502,407 (GRCm39) G837D probably damaging Het
Rad9b A G 5: 122,477,842 (GRCm39) V178A possibly damaging Het
Rfc1 G T 5: 65,468,397 (GRCm39) Y105* probably null Het
Sardh G A 2: 27,118,351 (GRCm39) R460C probably damaging Het
Scn5a C A 9: 119,365,546 (GRCm39) R367L probably damaging Het
Sdcbp A T 4: 6,386,536 (GRCm39) I137L probably benign Het
Shmt2 A G 10: 127,355,029 (GRCm39) V273A probably benign Het
Slc5a9 G T 4: 111,737,423 (GRCm39) P612H probably benign Het
Slitrk4 TTGT TT X: 63,314,294 (GRCm39) probably null Het
Slitrk4 TG T X: 63,314,295 (GRCm39) probably null Het
Spata1 A T 3: 146,199,438 (GRCm39) S9T probably benign Het
Syn3 T C 10: 85,909,097 (GRCm39) T328A probably benign Het
Tdrd6 A G 17: 43,939,546 (GRCm39) F501L probably damaging Het
Tekt5 T C 16: 10,213,070 (GRCm39) I72V probably benign Het
Ticrr T C 7: 79,343,821 (GRCm39) S1229P possibly damaging Het
Tlr6 T C 5: 65,110,748 (GRCm39) S720G probably damaging Het
Tmem156 T A 5: 65,237,294 (GRCm39) D87V probably damaging Het
Ucn2 A G 9: 108,815,430 (GRCm39) K64R probably benign Het
Vmn2r57 T A 7: 41,098,001 (GRCm39) Y22F probably benign Het
Vwa1 T C 4: 155,855,307 (GRCm39) T269A probably benign Het
Washc5 A G 15: 59,213,004 (GRCm39) L892P possibly damaging Het
Wdr20 T C 12: 110,760,002 (GRCm39) V296A probably damaging Het
Xxylt1 A T 16: 30,869,586 (GRCm39) H171Q probably damaging Het
Yju2 C T 17: 56,271,543 (GRCm39) Q155* probably null Het
Zfp275 A G X: 72,396,841 (GRCm39) T118A possibly damaging Het
Other mutations in Togaram1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Togaram1 APN 12 65,053,173 (GRCm39) missense probably damaging 1.00
IGL01128:Togaram1 APN 12 65,027,650 (GRCm39) missense probably benign 0.01
IGL01406:Togaram1 APN 12 65,042,352 (GRCm39) missense possibly damaging 0.81
IGL01534:Togaram1 APN 12 65,013,321 (GRCm39) missense probably damaging 0.99
IGL01569:Togaram1 APN 12 65,029,436 (GRCm39) missense possibly damaging 0.81
IGL01927:Togaram1 APN 12 65,023,476 (GRCm39) missense probably benign 0.31
IGL02066:Togaram1 APN 12 65,030,195 (GRCm39) missense probably damaging 1.00
IGL02746:Togaram1 APN 12 65,013,270 (GRCm39) nonsense probably null
IGL02878:Togaram1 APN 12 65,039,400 (GRCm39) missense possibly damaging 0.60
IGL02947:Togaram1 APN 12 65,068,274 (GRCm39) missense probably damaging 1.00
IGL02961:Togaram1 APN 12 65,013,484 (GRCm39) missense probably damaging 1.00
PIT4810001:Togaram1 UTSW 12 65,030,286 (GRCm39) missense probably damaging 1.00
R0483:Togaram1 UTSW 12 65,053,805 (GRCm39) missense probably damaging 1.00
R0519:Togaram1 UTSW 12 65,012,776 (GRCm39) unclassified probably benign
R0584:Togaram1 UTSW 12 65,014,279 (GRCm39) missense probably damaging 1.00
R0646:Togaram1 UTSW 12 65,068,240 (GRCm39) missense probably damaging 1.00
R0749:Togaram1 UTSW 12 65,029,472 (GRCm39) missense possibly damaging 0.87
R0891:Togaram1 UTSW 12 65,029,421 (GRCm39) missense probably benign 0.01
R1111:Togaram1 UTSW 12 65,053,115 (GRCm39) missense probably damaging 1.00
R1349:Togaram1 UTSW 12 65,057,919 (GRCm39) missense probably damaging 0.99
R1531:Togaram1 UTSW 12 65,013,039 (GRCm39) missense probably benign 0.01
R1618:Togaram1 UTSW 12 65,013,847 (GRCm39) missense possibly damaging 0.47
R1672:Togaram1 UTSW 12 65,068,342 (GRCm39) missense probably benign 0.00
R1789:Togaram1 UTSW 12 65,049,409 (GRCm39) missense possibly damaging 0.47
R1822:Togaram1 UTSW 12 65,042,409 (GRCm39) missense probably damaging 0.98
R1930:Togaram1 UTSW 12 65,013,709 (GRCm39) missense probably damaging 1.00
R1931:Togaram1 UTSW 12 65,013,709 (GRCm39) missense probably damaging 1.00
R2018:Togaram1 UTSW 12 65,049,433 (GRCm39) missense possibly damaging 0.76
R2304:Togaram1 UTSW 12 65,023,630 (GRCm39) splice site probably null
R2345:Togaram1 UTSW 12 65,055,406 (GRCm39) missense probably benign 0.05
R2407:Togaram1 UTSW 12 65,014,444 (GRCm39) missense probably damaging 1.00
R2853:Togaram1 UTSW 12 65,063,386 (GRCm39) missense probably benign 0.40
R3123:Togaram1 UTSW 12 65,013,118 (GRCm39) missense probably damaging 1.00
R3124:Togaram1 UTSW 12 65,013,118 (GRCm39) missense probably damaging 1.00
R3125:Togaram1 UTSW 12 65,013,118 (GRCm39) missense probably damaging 1.00
R3693:Togaram1 UTSW 12 65,030,283 (GRCm39) missense probably benign 0.34
R3857:Togaram1 UTSW 12 65,027,633 (GRCm39) missense possibly damaging 0.64
R3870:Togaram1 UTSW 12 65,049,419 (GRCm39) missense probably benign 0.00
R3871:Togaram1 UTSW 12 65,049,419 (GRCm39) missense probably benign 0.00
R4398:Togaram1 UTSW 12 65,027,630 (GRCm39) missense probably benign
R4578:Togaram1 UTSW 12 65,067,100 (GRCm39) missense probably damaging 1.00
R4579:Togaram1 UTSW 12 65,014,681 (GRCm39) missense probably damaging 1.00
R4621:Togaram1 UTSW 12 65,029,224 (GRCm39) missense possibly damaging 0.87
R4623:Togaram1 UTSW 12 65,029,224 (GRCm39) missense possibly damaging 0.87
R4655:Togaram1 UTSW 12 65,013,894 (GRCm39) missense possibly damaging 0.91
R5080:Togaram1 UTSW 12 65,030,177 (GRCm39) missense probably benign 0.02
R5459:Togaram1 UTSW 12 65,014,510 (GRCm39) missense probably damaging 1.00
R5652:Togaram1 UTSW 12 65,063,424 (GRCm39) missense probably benign 0.13
R5857:Togaram1 UTSW 12 65,042,331 (GRCm39) missense possibly damaging 0.64
R5997:Togaram1 UTSW 12 65,042,312 (GRCm39) missense probably benign 0.00
R6090:Togaram1 UTSW 12 65,014,575 (GRCm39) missense probably benign 0.07
R6117:Togaram1 UTSW 12 65,014,261 (GRCm39) missense probably damaging 1.00
R6221:Togaram1 UTSW 12 65,013,320 (GRCm39) missense probably damaging 1.00
R6505:Togaram1 UTSW 12 65,013,364 (GRCm39) missense possibly damaging 0.78
R6545:Togaram1 UTSW 12 65,024,981 (GRCm39) missense possibly damaging 0.90
R6706:Togaram1 UTSW 12 65,049,383 (GRCm39) missense probably benign 0.16
R7041:Togaram1 UTSW 12 65,067,160 (GRCm39) missense possibly damaging 0.76
R7199:Togaram1 UTSW 12 65,042,292 (GRCm39) missense probably benign
R7284:Togaram1 UTSW 12 65,055,454 (GRCm39) missense probably benign 0.09
R7451:Togaram1 UTSW 12 65,043,749 (GRCm39) missense probably damaging 1.00
R7504:Togaram1 UTSW 12 65,039,391 (GRCm39) missense possibly damaging 0.79
R7560:Togaram1 UTSW 12 65,057,916 (GRCm39) missense possibly damaging 0.52
R7802:Togaram1 UTSW 12 65,013,758 (GRCm39) nonsense probably null
R7842:Togaram1 UTSW 12 65,013,233 (GRCm39) missense probably damaging 1.00
R7922:Togaram1 UTSW 12 65,014,512 (GRCm39) missense probably damaging 1.00
R8174:Togaram1 UTSW 12 65,029,465 (GRCm39) missense possibly damaging 0.86
R8190:Togaram1 UTSW 12 65,053,686 (GRCm39) missense probably damaging 1.00
R8264:Togaram1 UTSW 12 65,042,330 (GRCm39) missense probably benign 0.00
R8466:Togaram1 UTSW 12 65,033,216 (GRCm39) missense probably benign 0.00
R8523:Togaram1 UTSW 12 65,067,088 (GRCm39) missense probably damaging 1.00
R8861:Togaram1 UTSW 12 65,027,406 (GRCm39) missense possibly damaging 0.88
R9213:Togaram1 UTSW 12 65,065,906 (GRCm39) missense possibly damaging 0.60
R9381:Togaram1 UTSW 12 65,014,204 (GRCm39) missense probably damaging 1.00
R9396:Togaram1 UTSW 12 65,014,429 (GRCm39) missense probably damaging 0.99
R9645:Togaram1 UTSW 12 65,066,082 (GRCm39) nonsense probably null
R9784:Togaram1 UTSW 12 65,014,168 (GRCm39) nonsense probably null
X0021:Togaram1 UTSW 12 65,012,958 (GRCm39) missense probably benign 0.00
Z1177:Togaram1 UTSW 12 65,012,982 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- ACCGTGAAGCCATCTAGCTG -3'
(R):5'- TGTGGCTGCAGCATAGATG -3'

Sequencing Primer
(F):5'- GAAGCCATCTAGCTGCATTTACAG -3'
(R):5'- CATAGATGCCTGGATTCTTGGAATTC -3'
Posted On 2014-08-25