Incidental Mutation 'R6505:Togaram1'
ID |
523787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram1
|
Ensembl Gene |
ENSMUSG00000035614 |
Gene Name |
TOG array regulator of axonemal microtubules 1 |
Synonyms |
A430041B07Rik, Fam179b |
MMRRC Submission |
044637-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
R6505 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65013364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 205
(I205T)
|
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 |
possibly damaging
Transcript: ENSMUST00000066296
AA Change: I205T
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070382 Gene: ENSMUSG00000035614 AA Change: I205T
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: I178T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223166
AA Change: I205T
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (84/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
A |
T |
17: 9,220,772 (GRCm39) |
I424L |
probably benign |
Het |
2610028H24Rik |
C |
T |
10: 76,285,115 (GRCm39) |
A8V |
probably benign |
Het |
Ago1 |
G |
A |
4: 126,357,628 (GRCm39) |
P16S |
probably benign |
Het |
Ak5 |
C |
T |
3: 152,187,306 (GRCm39) |
E394K |
probably benign |
Het |
Aldh7a1 |
T |
C |
18: 56,660,068 (GRCm39) |
Y498C |
probably damaging |
Het |
Alox12 |
T |
A |
11: 70,141,030 (GRCm39) |
D335V |
probably damaging |
Het |
Alx4 |
A |
T |
2: 93,498,904 (GRCm39) |
Y212F |
probably damaging |
Het |
Asb16 |
A |
G |
11: 102,167,303 (GRCm39) |
E223G |
probably damaging |
Het |
Atg9b |
C |
T |
5: 24,595,575 (GRCm39) |
V235M |
probably damaging |
Het |
BB014433 |
A |
G |
8: 15,092,304 (GRCm39) |
V183A |
probably benign |
Het |
Brca1 |
T |
A |
11: 101,414,367 (GRCm39) |
M1256L |
probably benign |
Het |
Bst1 |
A |
G |
5: 43,977,932 (GRCm39) |
I94V |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,599 (GRCm39) |
L206P |
probably benign |
Het |
Cabs1 |
T |
A |
5: 88,128,522 (GRCm39) |
M391K |
possibly damaging |
Het |
Cars1 |
C |
T |
7: 143,118,744 (GRCm39) |
R599Q |
probably damaging |
Het |
Ccdc190 |
T |
A |
1: 169,760,592 (GRCm39) |
Y73* |
probably null |
Het |
Cd177 |
A |
C |
7: 24,443,671 (GRCm39) |
L809W |
probably benign |
Het |
Cemip |
C |
A |
7: 83,600,805 (GRCm39) |
G939* |
probably null |
Het |
Clca3b |
T |
A |
3: 144,531,020 (GRCm39) |
I777F |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,211,236 (GRCm39) |
I176T |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,554,887 (GRCm39) |
T2064S |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,262,805 (GRCm39) |
N860S |
probably damaging |
Het |
Dab1 |
T |
A |
4: 104,369,461 (GRCm39) |
C3S |
probably benign |
Het |
Dennd4b |
A |
G |
3: 90,174,918 (GRCm39) |
E50G |
probably damaging |
Het |
Dis3l |
A |
T |
9: 64,214,795 (GRCm39) |
S925T |
probably benign |
Het |
Disp1 |
T |
C |
1: 182,868,076 (GRCm39) |
N1448S |
probably benign |
Het |
Dpp10 |
T |
C |
1: 123,264,580 (GRCm39) |
I747M |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Ephx4 |
A |
T |
5: 107,551,522 (GRCm39) |
K36* |
probably null |
Het |
Fam135a |
C |
T |
1: 24,053,953 (GRCm39) |
V1195I |
probably damaging |
Het |
Fap |
A |
T |
2: 62,376,947 (GRCm39) |
Y234* |
probably null |
Het |
Fem1c |
A |
T |
18: 46,638,942 (GRCm39) |
N353K |
possibly damaging |
Het |
Furin |
C |
A |
7: 80,043,365 (GRCm39) |
R282L |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm5930 |
A |
G |
14: 44,568,828 (GRCm39) |
*265Q |
probably null |
Het |
Hcrtr1 |
T |
A |
4: 130,031,379 (GRCm39) |
T15S |
probably benign |
Het |
Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
Il18r1 |
A |
T |
1: 40,528,867 (GRCm39) |
I304L |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,281,922 (GRCm39) |
Y185N |
probably damaging |
Het |
Itgb2 |
G |
A |
10: 77,395,507 (GRCm39) |
C536Y |
probably damaging |
Het |
Ivns1abp |
T |
C |
1: 151,236,744 (GRCm39) |
M435T |
probably benign |
Het |
Kcnh4 |
T |
C |
11: 100,647,911 (GRCm39) |
N151D |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,628,405 (GRCm39) |
M1499T |
probably benign |
Het |
Lamb1 |
A |
T |
12: 31,373,461 (GRCm39) |
T1397S |
possibly damaging |
Het |
Leng1 |
G |
A |
7: 3,664,211 (GRCm39) |
R239* |
probably null |
Het |
Map2k4 |
A |
T |
11: 65,584,355 (GRCm39) |
N309K |
possibly damaging |
Het |
Mcm3 |
A |
G |
1: 20,873,768 (GRCm39) |
F784S |
probably damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,884,884 (GRCm39) |
N260I |
probably benign |
Het |
Mrnip |
C |
A |
11: 50,090,679 (GRCm39) |
T281N |
possibly damaging |
Het |
Myo9b |
A |
G |
8: 71,808,501 (GRCm39) |
T1715A |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,269,184 (GRCm39) |
I406T |
possibly damaging |
Het |
Neto1 |
A |
G |
18: 86,516,699 (GRCm39) |
T339A |
possibly damaging |
Het |
Ntn1 |
T |
C |
11: 68,104,025 (GRCm39) |
D541G |
probably damaging |
Het |
Nuak2 |
C |
A |
1: 132,244,132 (GRCm39) |
H55Q |
probably damaging |
Het |
Nufip2 |
A |
G |
11: 77,582,439 (GRCm39) |
T118A |
probably benign |
Het |
Or11i1 |
T |
G |
3: 106,729,638 (GRCm39) |
N79T |
possibly damaging |
Het |
Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
Or51af1 |
T |
A |
7: 103,141,858 (GRCm39) |
T76S |
probably damaging |
Het |
Or52e19 |
C |
A |
7: 102,959,000 (GRCm39) |
A24D |
probably benign |
Het |
Or5d16 |
A |
T |
2: 87,773,518 (GRCm39) |
Y151* |
probably null |
Het |
Or5p59 |
T |
C |
7: 107,702,774 (GRCm39) |
V86A |
probably benign |
Het |
Or6d13 |
C |
T |
6: 116,517,561 (GRCm39) |
T49M |
probably benign |
Het |
Or7a40 |
A |
T |
16: 16,491,784 (GRCm39) |
D20E |
probably benign |
Het |
Or7g29 |
T |
C |
9: 19,286,237 (GRCm39) |
*313W |
probably null |
Het |
Pcdhb5 |
T |
A |
18: 37,453,933 (GRCm39) |
H104Q |
probably benign |
Het |
Phf11a |
T |
C |
14: 59,514,986 (GRCm39) |
R232G |
probably damaging |
Het |
Pik3r5 |
C |
T |
11: 68,383,615 (GRCm39) |
T478I |
probably benign |
Het |
Prkacb |
T |
A |
3: 146,438,401 (GRCm39) |
E380V |
probably damaging |
Het |
Prl7c1 |
G |
T |
13: 27,957,776 (GRCm39) |
D221E |
probably damaging |
Het |
Prr11 |
T |
A |
11: 86,996,950 (GRCm39) |
K5* |
probably null |
Het |
Prrc2b |
G |
A |
2: 32,112,332 (GRCm39) |
G1932D |
probably damaging |
Het |
Rexo1 |
A |
T |
10: 80,378,845 (GRCm39) |
Y1064N |
possibly damaging |
Het |
Rnf182 |
C |
T |
13: 43,822,147 (GRCm39) |
Q233* |
probably null |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Sash1 |
C |
G |
10: 8,605,291 (GRCm39) |
G1033A |
probably benign |
Het |
Sncaip |
C |
A |
18: 53,039,609 (GRCm39) |
S189* |
probably null |
Het |
Sorl1 |
T |
C |
9: 41,982,530 (GRCm39) |
Y350C |
probably damaging |
Het |
Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
Speg |
C |
A |
1: 75,406,167 (GRCm39) |
D3091E |
possibly damaging |
Het |
Sucnr1 |
A |
T |
3: 59,994,144 (GRCm39) |
D224V |
probably benign |
Het |
Tg |
G |
A |
15: 66,631,407 (GRCm39) |
A559T |
probably damaging |
Het |
Tmem132d |
A |
G |
5: 127,861,502 (GRCm39) |
I873T |
probably benign |
Het |
Tmem229a |
C |
T |
6: 24,954,920 (GRCm39) |
C278Y |
probably damaging |
Het |
Usp19 |
T |
A |
9: 108,374,082 (GRCm39) |
L713Q |
probably damaging |
Het |
Vsig10 |
A |
G |
5: 117,489,824 (GRCm39) |
D530G |
possibly damaging |
Het |
Zfp106 |
A |
G |
2: 120,364,983 (GRCm39) |
S475P |
probably damaging |
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 |
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 |
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'- GCAAGGAAGCCTTATATCGGGC -3'
(R):5'- TCCTGATCGCCAAGCTTTCG -3'
Sequencing Primer
(F):5'- CCTTATATCGGGCGCTGG -3'
(R):5'- GCTTTCGGGCCAGAGATATTATTAC -3'
|
Posted On |
2018-06-22 |