Incidental Mutation 'R0519:Togaram1'
ID |
48410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram1
|
Ensembl Gene |
ENSMUSG00000035614 |
Gene Name |
TOG array regulator of axonemal microtubules 1 |
Synonyms |
A430041B07Rik, Fam179b |
MMRRC Submission |
038712-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.874)
|
Stock # |
R0519 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 65012776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152602
(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 |
unknown
Transcript: ENSMUST00000066296
AA Change: L9P
|
SMART Domains |
Protein: ENSMUSP00000070382 Gene: ENSMUSG00000035614 AA Change: L9P
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 |
probably benign
Transcript: ENSMUST00000221836
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
|
Predicted Effect |
unknown
Transcript: ENSMUST00000223166
AA Change: L9P
|
Meta Mutation Damage Score |
0.1808 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.6%
- 20x: 93.2%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,696,067 (GRCm39) |
R168G |
probably benign |
Het |
2810004N23Rik |
C |
T |
8: 125,566,668 (GRCm39) |
G251R |
possibly damaging |
Het |
3425401B19Rik |
A |
G |
14: 32,384,919 (GRCm39) |
S349P |
possibly damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,650 (GRCm39) |
V99A |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Asxl3 |
A |
G |
18: 22,656,577 (GRCm39) |
Q1529R |
possibly damaging |
Het |
Atg12 |
T |
C |
18: 46,874,477 (GRCm39) |
E46G |
probably benign |
Het |
Cdcp2 |
A |
G |
4: 106,964,389 (GRCm39) |
|
probably benign |
Het |
Clasrp |
A |
G |
7: 19,318,089 (GRCm39) |
|
probably benign |
Het |
Clip2 |
A |
G |
5: 134,545,005 (GRCm39) |
V383A |
probably benign |
Het |
Cntln |
C |
T |
4: 84,923,290 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Csmd2 |
A |
C |
4: 128,380,798 (GRCm39) |
Y2118S |
possibly damaging |
Het |
Dip2c |
T |
A |
13: 9,613,244 (GRCm39) |
V415E |
probably damaging |
Het |
Dpy19l2 |
C |
T |
9: 24,469,391 (GRCm39) |
R755Q |
probably benign |
Het |
Dsn1 |
A |
T |
2: 156,840,633 (GRCm39) |
|
probably benign |
Het |
Dtd2 |
T |
C |
12: 52,051,742 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 6,027,399 (GRCm39) |
T602A |
probably benign |
Het |
Ercc6 |
A |
C |
14: 32,248,799 (GRCm39) |
D450A |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 28,008,380 (GRCm39) |
V104D |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,888,870 (GRCm39) |
|
probably null |
Het |
Gcgr |
G |
T |
11: 120,426,982 (GRCm39) |
W88L |
probably damaging |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
G |
13: 89,732,835 (GRCm39) |
|
probably benign |
Het |
Hmgn3 |
T |
C |
9: 82,994,301 (GRCm39) |
E40G |
probably damaging |
Het |
Hsdl1 |
G |
A |
8: 120,292,450 (GRCm39) |
A255V |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,472,499 (GRCm39) |
K306E |
probably damaging |
Het |
Jcad |
C |
T |
18: 4,649,122 (GRCm39) |
|
probably benign |
Het |
Kif14 |
C |
A |
1: 136,396,885 (GRCm39) |
A397E |
probably damaging |
Het |
Lcmt2 |
A |
T |
2: 120,969,825 (GRCm39) |
|
probably null |
Het |
Lifr |
T |
C |
15: 7,207,061 (GRCm39) |
L524P |
probably damaging |
Het |
Ly6g6f |
T |
C |
17: 35,301,828 (GRCm39) |
K209E |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,365,113 (GRCm39) |
T1651I |
probably benign |
Het |
Mapk4 |
T |
C |
18: 74,103,392 (GRCm39) |
D39G |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,522 (GRCm39) |
M137V |
probably damaging |
Het |
Mcm10 |
G |
A |
2: 5,013,356 (GRCm39) |
S92L |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,828,383 (GRCm39) |
K265R |
possibly damaging |
Het |
Mxra7 |
A |
G |
11: 116,701,612 (GRCm39) |
|
probably null |
Het |
Neu3 |
G |
A |
7: 99,472,524 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,460,648 (GRCm39) |
T2395A |
probably benign |
Het |
Or1j1 |
T |
A |
2: 36,702,627 (GRCm39) |
H159L |
probably damaging |
Het |
Or5m9 |
A |
T |
2: 85,877,411 (GRCm39) |
Y195F |
probably benign |
Het |
Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
Or7g34 |
A |
T |
9: 19,478,245 (GRCm39) |
I145N |
probably benign |
Het |
Osgepl1 |
T |
C |
1: 53,360,255 (GRCm39) |
V327A |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,649,085 (GRCm39) |
V738A |
possibly damaging |
Het |
Plekha8 |
A |
T |
6: 54,599,092 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
C |
10: 107,374,781 (GRCm39) |
|
probably benign |
Het |
Pus10 |
T |
A |
11: 23,661,201 (GRCm39) |
F263Y |
probably benign |
Het |
Rad54b |
A |
T |
4: 11,599,809 (GRCm39) |
I338F |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,585,498 (GRCm39) |
F756L |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,619,185 (GRCm39) |
L719P |
probably damaging |
Het |
Slc2a2 |
G |
A |
3: 28,772,965 (GRCm39) |
V253I |
possibly damaging |
Het |
Slc39a4 |
A |
T |
15: 76,499,338 (GRCm39) |
N192K |
probably benign |
Het |
Soat1 |
T |
A |
1: 156,268,816 (GRCm39) |
I245F |
probably damaging |
Het |
Sorcs2 |
G |
A |
5: 36,188,534 (GRCm39) |
A858V |
probably benign |
Het |
Tcim |
T |
C |
8: 24,928,651 (GRCm39) |
T88A |
possibly damaging |
Het |
Tecta |
G |
A |
9: 42,259,188 (GRCm39) |
|
probably benign |
Het |
Tgm5 |
C |
A |
2: 120,879,376 (GRCm39) |
L553F |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,669 (GRCm39) |
V1555A |
probably benign |
Het |
Tmem214 |
A |
C |
5: 31,027,012 (GRCm39) |
M1L |
probably null |
Het |
Topaz1 |
C |
A |
9: 122,578,544 (GRCm39) |
L485I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,548,626 (GRCm39) |
|
probably benign |
Het |
Ube2o |
A |
G |
11: 116,437,285 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
A |
12: 102,734,465 (GRCm39) |
D246E |
probably benign |
Het |
Vcpkmt |
T |
C |
12: 69,629,102 (GRCm39) |
D132G |
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,792,102 (GRCm39) |
Q51H |
probably benign |
Het |
Vmn2r95 |
C |
T |
17: 18,659,765 (GRCm39) |
P170S |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,567,826 (GRCm39) |
I1086T |
probably damaging |
Het |
Zfp444 |
G |
A |
7: 6,191,172 (GRCm39) |
A118T |
probably benign |
Het |
Zp2 |
A |
G |
7: 119,737,372 (GRCm39) |
I272T |
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 |
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 |
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'- ACAAGGGAGCGTCATTTCCGTC -3'
(R):5'- AAGAAGCCGAGTCTCCTCCTCATC -3'
Sequencing Primer
(F):5'- AGGAATCTTCGGCCTATGC -3'
(R):5'- GCTAGTTGAAACAGCCTCCG -3'
|
Posted On |
2013-06-12 |