Incidental Mutation 'PIT4810001:Togaram1'
| ID |
556868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
PIT4810001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65030286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 1030
(S1030N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066296]
[ENSMUST00000223166]
|
| AlphaFold |
Q6A070 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066296
AA Change: S1030N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: S1030N
| 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 |
probably damaging
Transcript: ENSMUST00000223166
AA Change: S1030N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.1%
- 20x: 72.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,822 (GRCm39) |
S105P |
probably damaging |
Het |
| Adtrp |
C |
T |
13: 41,981,724 (GRCm39) |
W48* |
probably null |
Het |
| Agxt2 |
A |
T |
15: 10,399,151 (GRCm39) |
M413L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,214 (GRCm39) |
D211V |
|
Het |
| Aplnr |
T |
A |
2: 84,967,628 (GRCm39) |
C218S |
probably damaging |
Het |
| Arhgdib |
T |
A |
6: 136,901,162 (GRCm39) |
E189V |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,596 (GRCm39) |
I1043T |
probably damaging |
Het |
| Atp13a5 |
C |
T |
16: 29,133,382 (GRCm39) |
C468Y |
probably damaging |
Het |
| Cars2 |
A |
T |
8: 11,564,699 (GRCm39) |
C459S |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,645 (GRCm39) |
Y327N |
probably benign |
Het |
| Ceacam1 |
T |
A |
7: 25,171,400 (GRCm39) |
I355F |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,722,932 (GRCm39) |
L2773P |
probably damaging |
Het |
| Ces2g |
A |
T |
8: 105,691,521 (GRCm39) |
H192L |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,444 (GRCm39) |
F121L |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,234 (GRCm39) |
S464N |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,735,135 (GRCm39) |
L990Q |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,706,516 (GRCm39) |
L2806Q |
unknown |
Het |
| Cpz |
T |
C |
5: 35,665,536 (GRCm39) |
E435G |
possibly damaging |
Het |
| Crbn |
T |
A |
6: 106,761,440 (GRCm39) |
R233* |
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,913,352 (GRCm39) |
T116I |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,574 (GRCm39) |
S314P |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,065,030 (GRCm39) |
E2625G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,833,796 (GRCm39) |
R1874* |
probably null |
Het |
| E130311K13Rik |
A |
T |
3: 63,823,122 (GRCm39) |
L174* |
probably null |
Het |
| Etnppl |
A |
G |
3: 130,414,363 (GRCm39) |
D86G |
probably benign |
Het |
| Fbxw18 |
C |
A |
9: 109,505,958 (GRCm39) |
E438* |
probably null |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Gpr155 |
A |
C |
2: 73,178,607 (GRCm39) |
L727R |
probably benign |
Het |
| Gpr158 |
C |
G |
2: 21,831,682 (GRCm39) |
D927E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,225,903 (GRCm39) |
Y2590C |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,328,348 (GRCm39) |
D207G |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,647,473 (GRCm39) |
L743P |
probably damaging |
Het |
| Kansl1l |
A |
T |
1: 66,801,308 (GRCm39) |
S553T |
probably damaging |
Het |
| Klhl14 |
G |
T |
18: 21,690,880 (GRCm39) |
Y523* |
probably null |
Het |
| Krtap14 |
A |
G |
16: 88,622,515 (GRCm39) |
S155P |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,273 (GRCm38) |
V111A |
probably benign |
Het |
| Maml2 |
A |
G |
9: 13,531,320 (GRCm39) |
N178S |
|
Het |
| Megf8 |
G |
A |
7: 25,041,710 (GRCm39) |
C1208Y |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,819,759 (GRCm39) |
D667G |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,860,158 (GRCm39) |
T1359A |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,007,106 (GRCm39) |
E1357G |
probably damaging |
Het |
| Or2d2 |
A |
T |
7: 106,727,766 (GRCm39) |
M278K |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,297 (GRCm39) |
H153Q |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,876 (GRCm39) |
F212I |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,487 (GRCm39) |
V447A |
possibly damaging |
Het |
| Pomp |
T |
C |
5: 147,806,229 (GRCm39) |
L57P |
probably benign |
Het |
| Pou2af2 |
C |
T |
9: 51,202,992 (GRCm39) |
G54D |
possibly damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,861 (GRCm39) |
Y128F |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,678,228 (GRCm39) |
F322L |
probably benign |
Het |
| Slc16a9 |
T |
A |
10: 70,119,762 (GRCm39) |
C468* |
probably null |
Het |
| Slc22a18 |
A |
G |
7: 143,046,668 (GRCm39) |
I271V |
probably benign |
Het |
| Slc25a41 |
A |
G |
17: 57,346,933 (GRCm39) |
V20A |
possibly damaging |
Het |
| Smim7 |
A |
T |
8: 73,324,857 (GRCm39) |
L6Q |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,218,845 (GRCm39) |
V227A |
probably damaging |
Het |
| Sowaha |
A |
T |
11: 53,369,290 (GRCm39) |
L482Q |
probably damaging |
Het |
| Srp19 |
A |
G |
18: 34,467,523 (GRCm39) |
Y68C |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,884 (GRCm39) |
S298P |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,035,379 (GRCm39) |
I200N |
probably damaging |
Het |
| Trav7n-4 |
A |
G |
14: 53,329,193 (GRCm39) |
M68V |
probably benign |
Het |
| Tshz1 |
A |
C |
18: 84,031,375 (GRCm39) |
L1011R |
possibly damaging |
Het |
| Tubb3 |
A |
G |
8: 124,148,396 (GRCm39) |
E443G |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,932,396 (GRCm39) |
I189K |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,909 (GRCm39) |
T619A |
probably benign |
Het |
| Wbp1l |
A |
G |
19: 46,642,761 (GRCm39) |
D254G |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,741,571 (GRCm39) |
F738L |
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 |
|
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 |
|
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'- GGTCCCTTCGAAATAGTGCAGC -3'
(R):5'- CGCTGGTAAAACTCCACATTGTG -3'
Sequencing Primer
(F):5'- CTTCGAAATAGTGCAGCTAAGAAAAG -3'
(R):5'- GACCAGGCTAACTCAAGCTCTATTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation