Incidental Mutation 'R1618:Togaram1'
| ID |
174458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| MMRRC Submission |
039655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R1618 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65013847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 366
(N366S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070382
(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 |
possibly damaging
Transcript: ENSMUST00000066296
AA Change: N366S
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: N366S
| 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: N339S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223166
AA Change: N366S
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
96% (79/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
T |
C |
14: 105,736,380 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
A |
T |
11: 109,840,714 (GRCm39) |
|
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Anln |
A |
G |
9: 22,262,214 (GRCm39) |
|
probably null |
Het |
| Anpep |
T |
G |
7: 79,485,165 (GRCm39) |
Q607P |
probably benign |
Het |
| Arl13b |
A |
C |
16: 62,633,640 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
C |
18: 22,650,044 (GRCm39) |
S678P |
probably damaging |
Het |
| Atf6b |
C |
T |
17: 34,866,702 (GRCm39) |
Q58* |
probably null |
Het |
| Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,726 (GRCm39) |
M782L |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,364,260 (GRCm39) |
S155P |
probably benign |
Het |
| Coro1a |
T |
C |
7: 126,300,719 (GRCm39) |
I162V |
probably benign |
Het |
| Cry1 |
T |
A |
10: 84,982,318 (GRCm39) |
I343F |
probably damaging |
Het |
| Csnk1e |
A |
T |
15: 79,309,050 (GRCm39) |
M292K |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,836,818 (GRCm39) |
M1069K |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,979,200 (GRCm39) |
I2633V |
probably damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,933,369 (GRCm39) |
D1731E |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,032,204 (GRCm39) |
T592A |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,946,984 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
T |
A |
1: 175,728,952 (GRCm39) |
M672K |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,163,047 (GRCm39) |
S661G |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,475 (GRCm39) |
Y188H |
possibly damaging |
Het |
| Foxb1 |
T |
C |
9: 69,667,293 (GRCm39) |
D79G |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,658,346 (GRCm39) |
Y610C |
probably damaging |
Het |
| Gm3095 |
T |
A |
14: 15,170,441 (GRCm39) |
Y97N |
probably damaging |
Het |
| Gm3095 |
C |
A |
14: 15,170,440 (GRCm39) |
N96K |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 47,049,237 (GRCm39) |
L128* |
probably null |
Het |
| Gprc5c |
T |
A |
11: 114,755,220 (GRCm39) |
V299D |
possibly damaging |
Het |
| Hsfy2 |
C |
T |
1: 56,676,388 (GRCm39) |
V50I |
probably benign |
Het |
| Hspa12b |
A |
C |
2: 130,982,849 (GRCm39) |
K236Q |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,080,221 (GRCm39) |
Y566C |
probably damaging |
Het |
| Itpr3 |
A |
C |
17: 27,335,581 (GRCm39) |
|
probably null |
Het |
| Kprp |
G |
A |
3: 92,732,783 (GRCm39) |
T89I |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,133 (GRCm39) |
E650G |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,051,144 (GRCm39) |
D331G |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,852,110 (GRCm39) |
I860F |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myt1l |
A |
G |
12: 29,877,396 (GRCm39) |
D349G |
unknown |
Het |
| Ndufs2 |
T |
C |
1: 171,073,690 (GRCm39) |
T31A |
probably benign |
Het |
| Ndufs3 |
A |
T |
2: 90,729,016 (GRCm39) |
S157T |
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Noct |
T |
A |
3: 51,155,251 (GRCm39) |
S6R |
probably damaging |
Het |
| Npas2 |
T |
A |
1: 39,339,808 (GRCm39) |
H119Q |
probably damaging |
Het |
| Oprl1 |
A |
T |
2: 181,360,646 (GRCm39) |
Y207F |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,586,557 (GRCm39) |
|
probably null |
Het |
| Or4c11 |
A |
G |
2: 88,695,871 (GRCm39) |
|
probably null |
Het |
| Or8k30 |
T |
G |
2: 86,339,193 (GRCm39) |
L130R |
probably damaging |
Het |
| Palm3 |
G |
T |
8: 84,756,291 (GRCm39) |
S601I |
possibly damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,548 (GRCm39) |
C163S |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,369,166 (GRCm39) |
M713L |
probably benign |
Het |
| Rdm1 |
A |
G |
11: 101,519,217 (GRCm39) |
D72G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,265,366 (GRCm39) |
D442G |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,542,279 (GRCm39) |
Y338C |
probably damaging |
Het |
| Seh1l |
T |
G |
18: 67,921,806 (GRCm39) |
V222G |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,814,340 (GRCm39) |
K43R |
probably damaging |
Het |
| Slc25a18 |
A |
C |
6: 120,763,303 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
T |
C |
3: 63,855,650 (GRCm39) |
T332A |
possibly damaging |
Het |
| Slc35d3 |
A |
G |
10: 19,724,909 (GRCm39) |
S316P |
probably benign |
Het |
| Spmip7 |
A |
G |
11: 11,438,641 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,037,906 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,230,974 (GRCm39) |
S156L |
probably damaging |
Het |
| Syce3 |
A |
G |
15: 89,274,606 (GRCm39) |
M49T |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,112,094 (GRCm39) |
|
probably benign |
Het |
| Tnks |
G |
T |
8: 35,342,430 (GRCm39) |
N373K |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,890,283 (GRCm39) |
R962H |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,854,995 (GRCm39) |
M1885L |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,471,221 (GRCm39) |
D1070G |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,546,421 (GRCm39) |
M3399T |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,393,695 (GRCm39) |
T196I |
probably benign |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,725 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,525,120 (GRCm39) |
W9* |
probably null |
Het |
| Wdr17 |
T |
C |
8: 55,092,930 (GRCm39) |
Y1076C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,382,092 (GRCm39) |
T5152A |
unknown |
Het |
| Zbtb46 |
A |
T |
2: 181,066,042 (GRCm39) |
V36E |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,380,579 (GRCm39) |
I9M |
possibly damaging |
Het |
| Zscan2 |
T |
A |
7: 80,525,534 (GRCm39) |
Y418* |
probably null |
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 |
|
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 |
|
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'- GAATCCGAGACAGCCTTCTCTTCAC -3'
(R):5'- AAGAACTGTTGCACCTGCTCTCCC -3'
Sequencing Primer
(F):5'- GGTCAAGAGAGGTTTCACTCCTAC -3'
(R):5'- CTCTCCCAGGCGAATGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation