Incidental Mutation 'R9381:Togaram1'
ID 710052
Institutional Source Beutler Lab
Gene Symbol Togaram1
Ensembl Gene ENSMUSG00000035614
Gene Name TOG array regulator of axonemal microtubules 1
Synonyms A430041B07Rik, Fam179b
MMRRC Submission 068992-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R9381 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 65012578-65069347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65014204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 485 (V485A)
Ref Sequence ENSEMBL: ENSMUSP00000152616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021331] [ENSMUST00000066296] [ENSMUST00000222508] [ENSMUST00000223166]
AlphaFold Q6A070
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: V485A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: V485A

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
Predicted Effect probably benign
Transcript: ENSMUST00000222508
Predicted Effect probably damaging
Transcript: ENSMUST00000223166
AA Change: V485A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
9930111J21Rik1 T A 11: 48,839,204 (GRCm39) K461M probably damaging Het
Abhd16b A G 2: 181,135,881 (GRCm39) Y261C probably damaging Het
Acadl T C 1: 66,893,805 (GRCm39) T117A probably benign Het
Adamts15 A G 9: 30,813,816 (GRCm39) V783A probably damaging Het
Aff1 A T 5: 103,981,733 (GRCm39) Q624L possibly damaging Het
Afg3l2 T G 18: 67,575,451 (GRCm39) E74A probably damaging Het
Aig1 T C 10: 13,523,417 (GRCm39) E238G probably benign Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Anks1 A T 17: 28,272,979 (GRCm39) Y958F probably damaging Het
Arhgef28 C A 13: 98,036,269 (GRCm39) Q1663H possibly damaging Het
Asb3 T C 11: 31,051,088 (GRCm39) L475P probably damaging Het
Atg9a T A 1: 75,162,726 (GRCm39) M430L probably benign Het
Bco1 T A 8: 117,837,631 (GRCm39) V164E probably benign Het
Bhlhe40 T C 6: 108,642,244 (GRCm39) L396P probably damaging Het
C5ar2 A T 7: 15,970,887 (GRCm39) S347T probably damaging Het
Cdc42bpa T C 1: 179,969,048 (GRCm39) S1212P probably damaging Het
Ceacam3 C G 7: 16,893,715 (GRCm39) Q409E Het
Ces3b T C 8: 105,811,670 (GRCm39) V62A probably benign Het
Dalrd3 A G 9: 108,448,242 (GRCm39) probably null Het
Ddhd2 G T 8: 26,239,849 (GRCm39) A288E probably benign Het
Dnah17 T A 11: 117,914,219 (GRCm39) M4435L probably benign Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
E030025P04Rik A G 11: 109,030,384 (GRCm39) Y168H unknown Het
Elavl2 T C 4: 91,197,009 (GRCm39) N23S probably benign Het
Elfn1 T C 5: 139,959,462 (GRCm39) V822A probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Exoc5 C T 14: 49,275,194 (GRCm39) S202N probably benign Het
Fryl T C 5: 73,240,637 (GRCm39) D1321G probably benign Het
Gm12258 C T 11: 58,750,007 (GRCm39) T394I unknown Het
Gm28363 T A 1: 117,654,615 (GRCm39) S85T probably damaging Het
H2-Q1 A G 17: 35,542,138 (GRCm39) T237A probably damaging Het
Hectd4 A T 5: 121,472,492 (GRCm39) I2743F possibly damaging Het
Hs3st3b1 C T 11: 63,812,692 (GRCm39) G8S probably benign Het
Ighv1-16 T C 12: 114,629,598 (GRCm39) N63S probably benign Het
Il20rb A G 9: 100,343,541 (GRCm39) F238L possibly damaging Het
Il31ra A T 13: 112,668,253 (GRCm39) F439I possibly damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kat2a T C 11: 100,602,692 (GRCm39) Q132R possibly damaging Het
Kcnq2 A G 2: 180,751,562 (GRCm39) I278T probably damaging Het
Lama1 T C 17: 68,044,479 (GRCm39) V126A Het
Lama2 T A 10: 27,064,023 (GRCm39) R1285* probably null Het
Larp1 A G 11: 57,949,532 (GRCm39) T1054A probably benign Het
Lrp1 A T 10: 127,441,337 (GRCm39) M262K probably benign Het
Lrrd1 A G 5: 3,901,074 (GRCm39) I460V probably benign Het
Ltbp1 A T 17: 75,696,434 (GRCm39) N1606I probably damaging Het
Mdga2 T C 12: 66,597,304 (GRCm39) N730S possibly damaging Het
Mpzl1 T C 1: 165,429,323 (GRCm39) H236R probably damaging Het
Mrps31 G A 8: 22,904,752 (GRCm39) R47K probably damaging Het
Nae1 A T 8: 105,250,239 (GRCm39) I218K probably benign Het
Npy2r T C 3: 82,448,356 (GRCm39) T140A probably damaging Het
Nr2e1 T A 10: 42,439,468 (GRCm39) L350F probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or51d1 A T 7: 102,347,654 (GRCm39) M70L probably damaging Het
Or5b124 G T 19: 13,610,647 (GRCm39) M57I probably damaging Het
Or5p50 A C 7: 107,421,812 (GRCm39) L288W probably damaging Het
Pabpc1l G T 2: 163,867,423 (GRCm39) C8F probably benign Het
Pafah1b3 A C 7: 24,994,699 (GRCm39) F172V probably benign Het
Pcdhga6 A T 18: 37,841,371 (GRCm39) T364S probably damaging Het
Ppp3cc T A 14: 70,462,441 (GRCm39) M399L probably benign Het
Prpsap2 T C 11: 61,635,782 (GRCm39) I173V probably benign Het
Rabggtb A T 3: 153,613,817 (GRCm39) W252R probably damaging Het
Raph1 A G 1: 60,540,959 (GRCm39) F351L unknown Het
Rasd2 T C 8: 75,948,589 (GRCm39) S172P probably damaging Het
Rbm15 T C 3: 107,238,752 (GRCm39) T549A probably benign Het
Reln A G 5: 22,549,202 (GRCm39) Y69H possibly damaging Het
Samd3 T A 10: 26,147,643 (GRCm39) N439K probably benign Het
Scap C A 9: 110,207,839 (GRCm39) A516D probably damaging Het
Selplg T C 5: 113,957,917 (GRCm39) T130A probably benign Het
Slc12a7 A G 13: 73,949,063 (GRCm39) M697V probably benign Het
Slc22a29 A G 19: 8,195,841 (GRCm39) I66T probably benign Het
Slco1a7 T C 6: 141,711,490 (GRCm39) I74V probably benign Het
Snrnp48 A C 13: 38,404,667 (GRCm39) I241L probably damaging Het
Sptb C T 12: 76,634,292 (GRCm39) E2140K probably benign Het
Strip2 T C 6: 29,927,333 (GRCm39) S192P probably benign Het
Svil A T 18: 5,099,013 (GRCm39) R1643S probably benign Het
Tbc1d2b A G 9: 90,101,139 (GRCm39) V617A possibly damaging Het
Tmem102 T C 11: 69,695,141 (GRCm39) E277G probably benign Het
Tmtc4 T G 14: 123,163,441 (GRCm39) I648L probably benign Het
Trim43b T C 9: 88,969,642 (GRCm39) I269V probably benign Het
Trpm2 T A 10: 77,747,191 (GRCm39) I1436F possibly damaging Het
Ube2d3 A T 3: 135,168,722 (GRCm39) I106F possibly damaging Het
Vdr G A 15: 97,755,333 (GRCm39) R397C probably damaging Het
Vps50 T C 6: 3,592,433 (GRCm39) S689P probably benign Het
Wipf2 A G 11: 98,787,068 (GRCm39) T366A probably damaging Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zfyve28 G A 5: 34,373,932 (GRCm39) T694I probably benign 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
R2006:Togaram1 UTSW 12 65,065,914 (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
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'- GCAACAGTTCTTGGGACCAG -3'
(R):5'- ATCGCCATTATCCTGCAATTCAAC -3'

Sequencing Primer
(F):5'- CAACAGTTCTTGGGACCAGTTATAGC -3'
(R):5'- AGAACATTGGTTTTACCTGAGCCC -3'
Posted On 2022-04-18