Incidental Mutation 'R8190:Togaram1'
| ID |
635101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| MMRRC Submission |
067613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R8190 (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 65053686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1322
(V1322A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066296]
|
| AlphaFold |
Q6A070 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066296
AA Change: V1322A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: V1322A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,706,030 (GRCm39) |
V113A |
possibly damaging |
Het |
| Adcy7 |
A |
G |
8: 89,037,666 (GRCm39) |
M245V |
possibly damaging |
Het |
| Adgra1 |
G |
T |
7: 139,456,034 (GRCm39) |
R554L |
probably benign |
Het |
| Agfg2 |
T |
A |
5: 137,653,664 (GRCm39) |
M351L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,979,619 (GRCm39) |
G301D |
probably benign |
Het |
| Ambra1 |
C |
T |
2: 91,602,697 (GRCm39) |
A227V |
possibly damaging |
Het |
| Ankrd24 |
T |
A |
10: 81,474,152 (GRCm39) |
D166E |
unknown |
Het |
| Anks1 |
C |
T |
17: 28,205,778 (GRCm39) |
P341S |
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,808,607 (GRCm39) |
D766N |
probably benign |
Het |
| Apol7e |
A |
T |
15: 77,602,007 (GRCm39) |
T202S |
possibly damaging |
Het |
| Arhgap44 |
C |
A |
11: 64,929,479 (GRCm39) |
C275F |
probably damaging |
Het |
| Arl6ip4 |
A |
C |
5: 124,255,095 (GRCm39) |
K95T |
probably damaging |
Het |
| Bbs9 |
T |
C |
9: 22,590,284 (GRCm39) |
L674P |
probably damaging |
Het |
| Bmp4 |
T |
A |
14: 46,621,972 (GRCm39) |
M191L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,787,090 (GRCm39) |
L2753P |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,163,901 (GRCm39) |
H473L |
probably benign |
Het |
| Cfap99 |
A |
T |
5: 34,482,502 (GRCm39) |
T538S |
possibly damaging |
Het |
| Clock |
A |
T |
5: 76,375,051 (GRCm39) |
V706E |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,749,485 (GRCm39) |
M15T |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,894,324 (GRCm39) |
D351G |
probably damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Eif3j1 |
A |
T |
2: 121,877,969 (GRCm39) |
D119V |
probably damaging |
Het |
| Eps8l1 |
C |
A |
7: 4,474,297 (GRCm39) |
S195Y |
probably benign |
Het |
| Exosc5 |
T |
C |
7: 25,365,769 (GRCm39) |
|
probably null |
Het |
| Fabp2 |
A |
T |
3: 122,690,419 (GRCm39) |
H34L |
probably benign |
Het |
| Fbln5 |
T |
A |
12: 101,723,555 (GRCm39) |
Q382L |
probably damaging |
Het |
| Fbxo34 |
C |
A |
14: 47,767,879 (GRCm39) |
T464K |
possibly damaging |
Het |
| Fndc8 |
T |
G |
11: 82,788,686 (GRCm39) |
V172G |
probably damaging |
Het |
| Frs2 |
C |
T |
10: 116,910,784 (GRCm39) |
V193I |
possibly damaging |
Het |
| Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,456 (GRCm39) |
S284P |
possibly damaging |
Het |
| Gsta4 |
T |
C |
9: 78,105,654 (GRCm39) |
V28A |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,325,733 (GRCm39) |
D1402E |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,795,728 (GRCm39) |
S180R |
possibly damaging |
Het |
| Hrg |
A |
T |
16: 22,779,793 (GRCm39) |
H357L |
unknown |
Het |
| Htr4 |
A |
G |
18: 62,570,971 (GRCm39) |
Q342R |
possibly damaging |
Het |
| Impa1 |
A |
G |
3: 10,386,688 (GRCm39) |
S184P |
possibly damaging |
Het |
| Iqgap3 |
A |
T |
3: 87,998,086 (GRCm39) |
Q281L |
probably damaging |
Het |
| Kcnh8 |
C |
T |
17: 53,263,936 (GRCm39) |
P811L |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,599,003 (GRCm39) |
I628V |
|
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mfn1 |
A |
T |
3: 32,622,538 (GRCm39) |
I599F |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,351 (GRCm39) |
R4S |
possibly damaging |
Het |
| Nbeal2 |
C |
T |
9: 110,455,158 (GRCm39) |
R2580Q |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,448,319 (GRCm39) |
N174S |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,305 (GRCm39) |
R93S |
probably benign |
Het |
| Or4q3 |
A |
T |
14: 50,583,179 (GRCm39) |
V240D |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,426,802 (GRCm39) |
V250D |
probably damaging |
Het |
| Or5p63 |
A |
G |
7: 107,811,014 (GRCm39) |
F241L |
possibly damaging |
Het |
| Pabpc2 |
G |
A |
18: 39,908,520 (GRCm39) |
R595Q |
probably benign |
Het |
| Pak6 |
C |
T |
2: 118,520,578 (GRCm39) |
Q190* |
probably null |
Het |
| Pds5a |
A |
T |
5: 65,781,341 (GRCm39) |
H1046Q |
probably damaging |
Het |
| Plin1 |
A |
G |
7: 79,373,028 (GRCm39) |
S314P |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptpra |
G |
A |
2: 30,328,351 (GRCm39) |
S224N |
probably damaging |
Het |
| Rbp1 |
T |
G |
9: 98,326,709 (GRCm39) |
W107G |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,617 (GRCm39) |
N61D |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,031,602 (GRCm39) |
D783E |
probably benign |
Het |
| Sufu |
G |
T |
19: 46,389,636 (GRCm39) |
E86* |
probably null |
Het |
| Synm |
A |
T |
7: 67,383,654 (GRCm39) |
M1336K |
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,942,341 (GRCm39) |
G670D |
probably damaging |
Het |
| Tmc8 |
T |
G |
11: 117,682,186 (GRCm39) |
|
probably null |
Het |
| Uxs1 |
A |
T |
1: 43,810,911 (GRCm39) |
I225K |
possibly damaging |
Het |
| Vil1 |
G |
T |
1: 74,474,052 (GRCm39) |
E796* |
probably null |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,568 (GRCm39) |
F78S |
probably damaging |
Het |
| Vps13d |
T |
A |
4: 144,879,321 (GRCm39) |
I1501F |
|
Het |
| Vps8 |
A |
T |
16: 21,393,780 (GRCm39) |
T1216S |
possibly damaging |
Het |
| Yipf4 |
G |
T |
17: 74,800,967 (GRCm39) |
R95L |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,465,346 (GRCm39) |
T470S |
probably damaging |
Het |
| Zfp113 |
G |
T |
5: 138,143,258 (GRCm39) |
H331N |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,106,902 (GRCm39) |
Y331C |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,327,610 (GRCm39) |
H580R |
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 |
|
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 |
|
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'- GCATAACCTGATTTGAGTGTACTTG -3'
(R):5'- CCATTGATGAGAGAAGTGACTGC -3'
Sequencing Primer
(F):5'- GTGGAGCATGCCTTTAATCCCAG -3'
(R):5'- CACGTGCAGGAGTTACATTATTAACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation