Incidental Mutation 'R4579:Togaram1'
ID |
343526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram1
|
Ensembl Gene |
ENSMUSG00000035614 |
Gene Name |
TOG array regulator of axonemal microtubules 1 |
Synonyms |
A430041B07Rik, Fam179b |
MMRRC Submission |
041801-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.874)
|
Stock # |
R4579 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 65014681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 644
(C644F)
|
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
Domain | Start | End | E-Value | Type |
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: C644F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000070382 Gene: ENSMUSG00000035614 AA Change: C644F
Domain | Start | End | E-Value | Type |
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: C617F
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223166
AA Change: C644F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.0852 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (88/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930004D18Rik |
A |
G |
2: 18,031,848 (GRCm39) |
I90T |
probably damaging |
Het |
Acox3 |
A |
G |
5: 35,761,987 (GRCm39) |
N444D |
probably damaging |
Het |
Adamts16 |
A |
G |
13: 70,927,743 (GRCm39) |
Y499H |
probably damaging |
Het |
Ajm1 |
T |
A |
2: 25,469,661 (GRCm39) |
R83S |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 126,752,612 (GRCm39) |
V368D |
probably damaging |
Het |
Atad5 |
T |
C |
11: 79,986,017 (GRCm39) |
V368A |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,067,090 (GRCm39) |
|
probably null |
Het |
Bdh1 |
A |
T |
16: 31,254,954 (GRCm39) |
|
probably benign |
Het |
Bmp6 |
A |
T |
13: 38,653,701 (GRCm39) |
Y256F |
probably damaging |
Het |
Bub1b |
C |
A |
2: 118,453,657 (GRCm39) |
S496* |
probably null |
Het |
Capn15 |
C |
T |
17: 26,178,811 (GRCm39) |
R1128H |
probably damaging |
Het |
Ccnf |
T |
A |
17: 24,450,303 (GRCm39) |
R461* |
probably null |
Het |
Col6a1 |
C |
T |
10: 76,547,191 (GRCm39) |
V725I |
unknown |
Het |
Cp |
T |
C |
3: 20,011,599 (GRCm39) |
|
probably null |
Het |
Cul2 |
T |
C |
18: 3,430,957 (GRCm39) |
V577A |
probably benign |
Het |
Cux2 |
A |
T |
5: 121,998,716 (GRCm39) |
I1408K |
probably benign |
Het |
Cyp2c69 |
T |
A |
19: 39,869,630 (GRCm39) |
T130S |
possibly damaging |
Het |
Cyp3a57 |
A |
G |
5: 145,311,074 (GRCm39) |
T278A |
probably benign |
Het |
Dchs1 |
T |
G |
7: 105,403,972 (GRCm39) |
T2857P |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,408,180 (GRCm39) |
M1884T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,608,554 (GRCm39) |
S1802G |
probably damaging |
Het |
Dner |
T |
C |
1: 84,361,537 (GRCm39) |
S691G |
probably damaging |
Het |
Dzip1l |
A |
T |
9: 99,529,267 (GRCm39) |
Q332L |
probably damaging |
Het |
Eprs1 |
A |
G |
1: 185,133,804 (GRCm39) |
Y827C |
probably damaging |
Het |
Ermp1 |
A |
T |
19: 29,594,051 (GRCm39) |
N706K |
probably damaging |
Het |
F830045P16Rik |
A |
G |
2: 129,305,423 (GRCm39) |
L317S |
probably damaging |
Het |
Fam120c |
G |
T |
X: 150,219,179 (GRCm39) |
G696W |
probably damaging |
Het |
Fance |
T |
A |
17: 28,536,125 (GRCm39) |
|
probably null |
Het |
Fancl |
G |
T |
11: 26,418,423 (GRCm39) |
|
probably null |
Het |
Fbxo30 |
T |
A |
10: 11,165,293 (GRCm39) |
V5E |
probably benign |
Het |
Foxn4 |
A |
T |
5: 114,394,886 (GRCm39) |
I347N |
possibly damaging |
Het |
Galr2 |
A |
T |
11: 116,172,325 (GRCm39) |
D5V |
probably benign |
Het |
Gm4845 |
T |
G |
1: 141,184,865 (GRCm39) |
|
noncoding transcript |
Het |
Gnao1 |
A |
T |
8: 94,693,532 (GRCm39) |
Q73L |
probably damaging |
Het |
Gnpat |
T |
A |
8: 125,605,241 (GRCm39) |
|
probably null |
Het |
H2-T5 |
C |
T |
17: 36,472,649 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,791,356 (GRCm39) |
M2594T |
probably damaging |
Het |
Hint3 |
T |
C |
10: 30,486,428 (GRCm39) |
H117R |
probably damaging |
Het |
Hsd3b6 |
A |
G |
3: 98,713,541 (GRCm39) |
F253L |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,904,466 (GRCm39) |
D313G |
possibly damaging |
Het |
Kbtbd2 |
A |
T |
6: 56,755,893 (GRCm39) |
D614E |
probably damaging |
Het |
Ksr2 |
A |
T |
5: 117,894,335 (GRCm39) |
I825F |
probably damaging |
Het |
L3mbtl4 |
A |
T |
17: 69,071,635 (GRCm39) |
S521C |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,123,015 (GRCm39) |
N725S |
probably damaging |
Het |
Med1 |
T |
G |
11: 98,049,248 (GRCm39) |
E516A |
possibly damaging |
Het |
Mical3 |
A |
T |
6: 120,935,660 (GRCm39) |
V1622E |
probably benign |
Het |
Miip |
G |
A |
4: 147,945,518 (GRCm39) |
P373S |
probably damaging |
Het |
Myo7a |
C |
A |
7: 97,722,400 (GRCm39) |
S1175I |
probably damaging |
Het |
Ndst3 |
A |
T |
3: 123,340,474 (GRCm39) |
D781E |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,359,583 (GRCm39) |
V1407E |
probably damaging |
Het |
Opalin |
A |
G |
19: 41,056,196 (GRCm39) |
L33P |
probably damaging |
Het |
Or2f2 |
A |
T |
6: 42,767,458 (GRCm39) |
I162F |
probably benign |
Het |
Or2n1b |
G |
C |
17: 38,460,296 (GRCm39) |
K272N |
probably damaging |
Het |
Or4c111 |
T |
C |
2: 88,843,488 (GRCm39) |
I307V |
probably benign |
Het |
Or8b12i |
G |
T |
9: 20,082,410 (GRCm39) |
S152R |
probably damaging |
Het |
Or8k28 |
T |
C |
2: 86,285,859 (GRCm39) |
Y252C |
probably damaging |
Het |
Or8s10 |
A |
T |
15: 98,335,560 (GRCm39) |
D70V |
probably damaging |
Het |
Pcdhb2 |
T |
A |
18: 37,429,168 (GRCm39) |
N23K |
probably damaging |
Het |
Pdap1 |
A |
G |
5: 145,073,691 (GRCm39) |
|
probably benign |
Het |
Pds5b |
A |
G |
5: 150,670,197 (GRCm39) |
E395G |
probably damaging |
Het |
Pex1 |
C |
A |
5: 3,668,880 (GRCm39) |
R624S |
probably benign |
Het |
Pitrm1 |
G |
A |
13: 6,608,261 (GRCm39) |
V329I |
probably benign |
Het |
Pop1 |
G |
A |
15: 34,515,970 (GRCm39) |
|
probably benign |
Het |
Prkaa1 |
A |
G |
15: 5,190,082 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
G |
T |
12: 73,335,298 (GRCm39) |
|
probably null |
Het |
Slc5a9 |
T |
A |
4: 111,750,384 (GRCm39) |
Y158F |
probably damaging |
Het |
Spata3 |
T |
A |
1: 85,954,175 (GRCm39) |
V114E |
probably damaging |
Het |
Tbcb |
T |
A |
7: 29,931,019 (GRCm39) |
I34F |
possibly damaging |
Het |
Tek |
T |
A |
4: 94,751,903 (GRCm39) |
Y1014* |
probably null |
Het |
Trim56 |
A |
C |
5: 137,142,918 (GRCm39) |
D199E |
possibly damaging |
Het |
Tssk3 |
A |
T |
4: 129,383,110 (GRCm39) |
D187E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,727,147 (GRCm39) |
|
probably benign |
Het |
Twf2 |
G |
A |
9: 106,090,025 (GRCm39) |
R126Q |
probably benign |
Het |
Ugt1a10 |
T |
C |
1: 87,983,838 (GRCm39) |
M212T |
probably benign |
Het |
Vmn1r177 |
A |
T |
7: 23,565,772 (GRCm39) |
F35I |
possibly damaging |
Het |
Vmn1r44 |
T |
A |
6: 89,870,915 (GRCm39) |
H77Q |
possibly damaging |
Het |
Zfp1004 |
T |
A |
2: 150,034,143 (GRCm39) |
Y186N |
probably damaging |
Het |
Zfp524 |
G |
A |
7: 5,021,347 (GRCm39) |
V292I |
probably benign |
Het |
Zfp788 |
T |
G |
7: 41,297,018 (GRCm39) |
I56S |
probably benign |
Het |
|
Other mutations in Togaram1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- ATGCAATACTCATGCCGTCTTC -3'
(R):5'- TGGCCATAGCTCATTGTACCTC -3'
Sequencing Primer
(F):5'- AGAGTGCACACTGCTACT -3'
(R):5'- GTACCTCAAGTTTAATCAAGGAAACC -3'
|
Posted On |
2015-09-24 |