Incidental Mutation 'R1930:Togaram1'
| ID |
215297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| MMRRC Submission |
039948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R1930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65013709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 320
(Y320C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152616
(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 |
probably damaging
Transcript: ENSMUST00000066296
AA Change: Y320C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: Y320C
| 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 |
unknown
Transcript: ENSMUST00000221836
AA Change: Y293C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223166
AA Change: Y320C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,540 (GRCm39) |
D148E |
probably damaging |
Het |
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| 4933430I17Rik |
A |
T |
4: 62,450,519 (GRCm39) |
D31V |
possibly damaging |
Het |
| Acsl1 |
C |
A |
8: 46,984,023 (GRCm39) |
A514E |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,326,124 (GRCm39) |
Y110C |
probably damaging |
Het |
| Adamts20 |
T |
A |
15: 94,301,891 (GRCm39) |
H27L |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,991,204 (GRCm39) |
I578N |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AW011738 |
T |
C |
4: 156,287,997 (GRCm39) |
|
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cav1 |
A |
T |
6: 17,339,331 (GRCm39) |
I139F |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,460,291 (GRCm39) |
|
probably null |
Het |
| Chrnb1 |
A |
G |
11: 69,683,563 (GRCm39) |
L261P |
possibly damaging |
Het |
| Cntn3 |
C |
T |
6: 102,219,014 (GRCm39) |
W535* |
probably null |
Het |
| Col4a4 |
A |
C |
1: 82,444,321 (GRCm39) |
|
probably null |
Het |
| Daam2 |
A |
T |
17: 49,769,241 (GRCm39) |
|
probably null |
Het |
| Ddx23 |
G |
A |
15: 98,548,599 (GRCm39) |
R370W |
possibly damaging |
Het |
| Dgkh |
T |
C |
14: 78,853,945 (GRCm39) |
I265V |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,666,074 (GRCm39) |
K306R |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,497,265 (GRCm39) |
T4250M |
possibly damaging |
Het |
| Fezf1 |
T |
G |
6: 23,246,906 (GRCm39) |
I309L |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,795,580 (GRCm39) |
K206E |
probably damaging |
Het |
| Glt8d2 |
G |
T |
10: 82,500,476 (GRCm39) |
S91R |
probably benign |
Het |
| H2-Oa |
A |
T |
17: 34,312,873 (GRCm39) |
H50L |
possibly damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,643 (GRCm39) |
Y369H |
possibly damaging |
Het |
| Hspg2 |
T |
A |
4: 137,267,541 (GRCm39) |
S2050T |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,753,202 (GRCm39) |
S961R |
probably benign |
Het |
| Ift20 |
G |
A |
11: 78,430,830 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,603,494 (GRCm39) |
F367I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,728,514 (GRCm39) |
Q415L |
probably benign |
Het |
| Krtcap2 |
T |
A |
3: 89,154,383 (GRCm39) |
N35K |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,773,708 (GRCm39) |
V294A |
probably damaging |
Het |
| Lrp5 |
C |
T |
19: 3,660,131 (GRCm39) |
V978I |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,996,920 (GRCm39) |
D208E |
probably damaging |
Het |
| Mc2r |
T |
A |
18: 68,540,853 (GRCm39) |
T147S |
probably benign |
Het |
| Mfsd4b1 |
C |
A |
10: 39,882,070 (GRCm39) |
A72S |
probably benign |
Het |
| Msln |
A |
T |
17: 25,970,896 (GRCm39) |
N150K |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,425,894 (GRCm39) |
V33A |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,398,555 (GRCm39) |
M1V |
probably null |
Het |
| Or4c3 |
G |
A |
2: 89,851,505 (GRCm39) |
R302C |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,223,745 (GRCm39) |
M81K |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 13,038,251 (GRCm39) |
Q269L |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,614,453 (GRCm39) |
V333L |
probably benign |
Het |
| Peg10 |
A |
G |
6: 4,755,778 (GRCm39) |
Y118C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,733 (GRCm39) |
D737G |
possibly damaging |
Het |
| Ptgfr |
T |
A |
3: 151,540,831 (GRCm39) |
T226S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Scgb2b20 |
T |
C |
7: 33,065,621 (GRCm39) |
|
probably null |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,809 (GRCm39) |
V259A |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,194 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc51b |
T |
A |
9: 65,322,478 (GRCm39) |
E21V |
probably damaging |
Het |
| Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spata3 |
A |
C |
1: 85,949,783 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,145,658 (GRCm39) |
D1101G |
probably damaging |
Het |
| Srf |
C |
A |
17: 46,860,912 (GRCm39) |
G401C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stradb |
A |
C |
1: 59,030,264 (GRCm39) |
N173H |
probably benign |
Het |
| Sugp1 |
T |
A |
8: 70,524,190 (GRCm39) |
D598E |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,477,378 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tekt2 |
T |
C |
4: 126,216,610 (GRCm39) |
|
probably null |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,370,262 (GRCm39) |
S301G |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,762,079 (GRCm39) |
N515K |
unknown |
Het |
| Tspyl3 |
A |
G |
2: 153,066,717 (GRCm39) |
F174L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,193 (GRCm39) |
D31099N |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,065,700 (GRCm39) |
L446F |
probably damaging |
Het |
| Utp25 |
T |
A |
1: 192,800,617 (GRCm39) |
K401I |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zfp109 |
G |
A |
7: 23,928,161 (GRCm39) |
T424M |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,436,382 (GRCm39) |
M1K |
probably null |
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 |
|
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'- ATATCTCTGGCCCGAAAGCTTG -3'
(R):5'- CTAGCATGAGGGGTCGAACTTG -3'
Sequencing Primer
(F):5'- CCGAAAGCTTGGCGATCAG -3'
(R):5'- GGGTTAAATTTTCCCAGCAACTGC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation