Incidental Mutation 'R5997:Togaram1'
| ID |
480643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| MMRRC Submission |
044176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R5997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65042312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1174
(T1174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066296]
[ENSMUST00000223166]
|
| AlphaFold |
Q6A070 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066296
AA Change: T1124A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: T1124A
| 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 |
noncoding transcript
Transcript: ENSMUST00000220487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223166
AA Change: T1174A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (78/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
A |
T |
5: 124,227,878 (GRCm39) |
V121E |
possibly damaging |
Het |
| Acsbg3 |
A |
T |
17: 57,183,373 (GRCm39) |
D38V |
probably benign |
Het |
| Adamts20 |
T |
A |
15: 94,277,628 (GRCm39) |
Y278F |
probably damaging |
Het |
| Adcy7 |
A |
T |
8: 89,053,020 (GRCm39) |
D972V |
probably benign |
Het |
| Adgrf3 |
C |
A |
5: 30,403,360 (GRCm39) |
|
probably null |
Het |
| Ahdc1 |
G |
T |
4: 132,791,206 (GRCm39) |
G816C |
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,319,994 (GRCm39) |
K283E |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,984,016 (GRCm39) |
|
probably null |
Het |
| Ank1 |
T |
C |
8: 23,589,678 (GRCm39) |
L593P |
probably damaging |
Het |
| Apol11b |
T |
A |
15: 77,519,697 (GRCm39) |
T128S |
probably benign |
Het |
| C1qtnf7 |
C |
A |
5: 43,773,427 (GRCm39) |
T235K |
probably damaging |
Het |
| Camk2a |
A |
T |
18: 61,111,029 (GRCm39) |
I73F |
probably damaging |
Het |
| Ccdc121rt3 |
C |
T |
5: 112,502,874 (GRCm39) |
V277M |
possibly damaging |
Het |
| Cd109 |
G |
T |
9: 78,612,344 (GRCm39) |
V1244F |
possibly damaging |
Het |
| Cep164 |
A |
G |
9: 45,680,761 (GRCm39) |
L1240S |
possibly damaging |
Het |
| Cnga1 |
T |
A |
5: 72,761,918 (GRCm39) |
D532V |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,353,297 (GRCm39) |
L5* |
probably null |
Het |
| Cyp4a30b |
A |
T |
4: 115,316,588 (GRCm39) |
K405* |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,403,302 (GRCm39) |
D3080G |
probably benign |
Het |
| Ddx1 |
T |
C |
12: 13,287,800 (GRCm39) |
D168G |
probably damaging |
Het |
| Dhx57 |
T |
G |
17: 80,553,235 (GRCm39) |
K1231Q |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,597,670 (GRCm39) |
N3640D |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,805,833 (GRCm39) |
L935Q |
probably damaging |
Het |
| Dus2 |
A |
T |
8: 106,772,698 (GRCm39) |
R269S |
probably benign |
Het |
| E230025N22Rik |
G |
A |
18: 36,822,161 (GRCm39) |
R201C |
possibly damaging |
Het |
| Erbb3 |
G |
A |
10: 128,419,054 (GRCm39) |
T269M |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,239 (GRCm39) |
R323G |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,735,061 (GRCm39) |
H233R |
probably benign |
Het |
| Ftsj3 |
A |
T |
11: 106,143,077 (GRCm39) |
D412E |
probably damaging |
Het |
| Fzd7 |
A |
T |
1: 59,523,703 (GRCm39) |
M529L |
probably benign |
Het |
| Fzr1 |
T |
A |
10: 81,206,660 (GRCm39) |
|
probably null |
Het |
| Ganc |
T |
G |
2: 120,261,086 (GRCm39) |
V257G |
possibly damaging |
Het |
| Garin1a |
T |
A |
6: 29,290,423 (GRCm39) |
L267* |
probably null |
Het |
| Gm4131 |
T |
C |
14: 62,702,207 (GRCm39) |
K254E |
probably damaging |
Het |
| Gm7347 |
G |
T |
5: 26,262,247 (GRCm39) |
Y91* |
probably null |
Het |
| Gm9857 |
G |
A |
3: 108,847,481 (GRCm39) |
|
probably benign |
Het |
| Grpel1 |
T |
C |
5: 36,622,592 (GRCm39) |
S19P |
probably benign |
Het |
| Gtf3c4 |
T |
C |
2: 28,723,723 (GRCm39) |
K670E |
possibly damaging |
Het |
| H2bc7 |
G |
A |
13: 23,758,277 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,579,924 (GRCm39) |
Q1938K |
possibly damaging |
Het |
| Hnrnpk |
T |
C |
13: 58,546,971 (GRCm39) |
D71G |
probably damaging |
Het |
| Hspa4l |
G |
A |
3: 40,722,411 (GRCm39) |
R311H |
probably damaging |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,688 (GRCm39) |
F56L |
probably benign |
Het |
| Igkv6-20 |
T |
A |
6: 70,312,898 (GRCm39) |
T92S |
possibly damaging |
Het |
| Krt8 |
C |
T |
15: 101,909,029 (GRCm39) |
V200I |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,357,587 (GRCm39) |
T66S |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,778 (GRCm39) |
L135S |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,106,078 (GRCm39) |
Y701C |
probably damaging |
Het |
| Mcc |
G |
T |
18: 44,582,388 (GRCm39) |
L588M |
probably damaging |
Het |
| Mcidas |
T |
A |
13: 113,135,120 (GRCm39) |
L234Q |
probably damaging |
Het |
| Mtmr14 |
T |
A |
6: 113,257,575 (GRCm39) |
L208Q |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,893,747 (GRCm39) |
F1139L |
possibly damaging |
Het |
| Nlrp14 |
C |
A |
7: 106,781,703 (GRCm39) |
T300K |
probably benign |
Het |
| Or2d36 |
A |
T |
7: 106,746,535 (GRCm39) |
E4V |
possibly damaging |
Het |
| Or2m13 |
T |
A |
16: 19,226,694 (GRCm39) |
H24L |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,870 (GRCm39) |
I179V |
probably benign |
Het |
| Or8b41 |
A |
T |
9: 38,055,097 (GRCm39) |
Y217F |
probably damaging |
Het |
| Orc2 |
A |
G |
1: 58,511,547 (GRCm39) |
I354T |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,115,568 (GRCm39) |
S140I |
probably damaging |
Het |
| Pcgf5 |
A |
G |
19: 36,412,003 (GRCm39) |
D49G |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,609,041 (GRCm39) |
F388S |
probably damaging |
Het |
| Prokr2 |
A |
C |
2: 132,223,362 (GRCm39) |
I60S |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Rbms3 |
T |
C |
9: 116,548,457 (GRCm39) |
D61G |
probably damaging |
Het |
| Rhcg |
T |
A |
7: 79,250,262 (GRCm39) |
K274* |
probably null |
Het |
| Rnf112 |
C |
T |
11: 61,341,848 (GRCm39) |
V319M |
possibly damaging |
Het |
| Rnf44 |
A |
T |
13: 54,830,613 (GRCm39) |
S265T |
possibly damaging |
Het |
| Sf3a3 |
A |
G |
4: 124,615,851 (GRCm39) |
D168G |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,806,642 (GRCm39) |
|
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,198,839 (GRCm39) |
L275F |
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,645,722 (GRCm39) |
H383R |
probably damaging |
Het |
| Spns3 |
T |
G |
11: 72,429,904 (GRCm39) |
T175P |
probably damaging |
Het |
| Tradd |
C |
T |
8: 105,987,277 (GRCm39) |
E10K |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,339,819 (GRCm39) |
Y579N |
probably damaging |
Het |
| Uncx |
G |
A |
5: 139,533,344 (GRCm39) |
G470R |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,408,777 (GRCm39) |
M177K |
probably damaging |
Het |
| Wfs1 |
A |
T |
5: 37,125,094 (GRCm39) |
I599N |
probably damaging |
Het |
| Zfp454 |
G |
A |
11: 50,764,449 (GRCm39) |
H217Y |
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 |
|
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'- CAGAAACCACTATCTTCTTGTCTG -3'
(R):5'- TGATGCAGGAACACATAGACAAGTTC -3'
Sequencing Primer
(F):5'- AACCACTATCTTCTTGTCTGATTAGG -3'
(R):5'- TTAATCCCAGCACTTGGTAGGCAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation