Incidental Mutation 'R3870:Togaram1'
| ID |
276527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| MMRRC Submission |
040789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R3870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65049419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1285
(E1285D)
|
| 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: E1235D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: E1235D
| 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: ENSMUST00000223166
AA Change: E1285D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
90% (61/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
T |
A |
7: 43,880,828 (GRCm39) |
|
probably null |
Het |
| Adam22 |
C |
A |
5: 8,182,418 (GRCm39) |
C514F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,536,813 (GRCm39) |
|
probably benign |
Het |
| Armcx2 |
A |
T |
X: 133,707,048 (GRCm39) |
V195E |
probably benign |
Het |
| Atg7 |
T |
C |
6: 114,674,008 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,876,033 (GRCm39) |
Y1003* |
probably null |
Het |
| Ccdc93 |
A |
G |
1: 121,390,843 (GRCm39) |
S272G |
probably benign |
Het |
| Ces1d |
C |
G |
8: 93,901,714 (GRCm39) |
L418F |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,247,948 (GRCm39) |
K1499M |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ehd4 |
T |
A |
2: 119,967,434 (GRCm39) |
D120V |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,824,211 (GRCm39) |
V71E |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,256,853 (GRCm39) |
|
probably benign |
Het |
| Glud1 |
T |
A |
14: 34,047,537 (GRCm39) |
|
probably benign |
Het |
| Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
| Gm11555 |
G |
T |
11: 99,540,816 (GRCm39) |
C64* |
probably null |
Het |
| Gm5468 |
A |
G |
15: 25,414,561 (GRCm39) |
|
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 187,054,491 (GRCm39) |
L74Q |
probably damaging |
Het |
| Hnrnpa0 |
G |
A |
13: 58,275,713 (GRCm39) |
R139C |
probably damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,880 (GRCm39) |
Y387C |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,289,440 (GRCm39) |
D216E |
probably damaging |
Het |
| Lingo1 |
A |
T |
9: 56,527,009 (GRCm39) |
S533T |
probably benign |
Het |
| Lmtk2 |
T |
G |
5: 144,103,245 (GRCm39) |
|
probably benign |
Het |
| Map1s |
A |
G |
8: 71,369,745 (GRCm39) |
E939G |
possibly damaging |
Het |
| Mast1 |
G |
A |
8: 85,645,360 (GRCm39) |
T695I |
probably damaging |
Het |
| Mettl21e |
G |
A |
1: 44,245,524 (GRCm39) |
R241W |
probably benign |
Het |
| Mfsd4a |
G |
A |
1: 131,974,091 (GRCm39) |
T261I |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,968,095 (GRCm39) |
S144P |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,492,239 (GRCm39) |
H727L |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,477 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
C |
7: 55,582,690 (GRCm39) |
R352G |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,134,055 (GRCm39) |
R222Q |
probably benign |
Het |
| Or2ag2b |
T |
A |
7: 106,418,047 (GRCm39) |
Y252* |
probably null |
Het |
| Pard3 |
T |
C |
8: 128,136,167 (GRCm39) |
S847P |
probably damaging |
Het |
| Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
| Plcb1 |
A |
C |
2: 135,167,591 (GRCm39) |
I462L |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,230,416 (GRCm39) |
V814A |
possibly damaging |
Het |
| Rasal3 |
G |
A |
17: 32,612,522 (GRCm39) |
R780W |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,768,427 (GRCm39) |
E359G |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,451 (GRCm39) |
L579F |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,582,781 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
A |
G |
1: 125,490,098 (GRCm39) |
T65A |
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,113,762 (GRCm39) |
S180R |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,684,079 (GRCm39) |
T129A |
probably damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,810 (GRCm39) |
C529S |
probably damaging |
Het |
| Tlr12 |
T |
A |
4: 128,510,361 (GRCm39) |
M630L |
probably benign |
Het |
| Tnfrsf10b |
T |
G |
14: 70,010,905 (GRCm39) |
D103E |
probably benign |
Het |
| Tppp |
A |
G |
13: 74,178,891 (GRCm39) |
T111A |
probably benign |
Het |
| Trim12c |
T |
C |
7: 103,997,544 (GRCm39) |
Q4R |
probably benign |
Het |
| Ttbk2 |
T |
G |
2: 120,570,500 (GRCm39) |
S1149R |
probably damaging |
Het |
| Uncx |
T |
C |
5: 139,533,120 (GRCm39) |
L395P |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
| Usp32 |
A |
T |
11: 84,897,881 (GRCm39) |
Y1153* |
probably null |
Het |
| Vmn2r6 |
T |
C |
3: 64,464,042 (GRCm39) |
E264G |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,461,050 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,792,008 (GRCm39) |
I425V |
probably benign |
Het |
| Vstm4 |
C |
T |
14: 32,585,712 (GRCm39) |
A93V |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,909,885 (GRCm39) |
S97T |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,480,218 (GRCm39) |
C758R |
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 |
|
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'- GCTCAGTGTCAAGTTTTAGTTCTTC -3'
(R):5'- AAAATGCCACCAGGTGCTCC -3'
Sequencing Primer
(F):5'- CTTCAAATAGTCAGTCTTGCATAGTC -3'
(R):5'- AGGTGCTCCAGCTGAAAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation