Incidental Mutation 'R4621:Togaram1'
| ID |
346173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| MMRRC Submission |
041886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R4621 (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 T
at 65029224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 882
(E882D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066296]
[ENSMUST00000223166]
|
| AlphaFold |
Q6A070 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066296
AA Change: E882D
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: E882D
| 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: ENSMUST00000221400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221836
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223166
AA Change: E882D
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223311
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (90/90) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 78,975,235 (GRCm39) |
Y142H |
probably damaging |
Het |
| Abra |
C |
T |
15: 41,732,620 (GRCm39) |
D149N |
probably benign |
Het |
| Acin1 |
A |
T |
14: 54,890,900 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
A |
11: 80,064,899 (GRCm39) |
|
probably null |
Het |
| Afdn |
A |
G |
17: 14,109,082 (GRCm39) |
E1535G |
probably damaging |
Het |
| Ajm1 |
G |
A |
2: 25,468,412 (GRCm39) |
P500S |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,282,887 (GRCm39) |
N1218D |
possibly damaging |
Het |
| Angptl1 |
G |
A |
1: 156,672,494 (GRCm39) |
V107M |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,032,894 (GRCm39) |
|
probably benign |
Het |
| Cage1 |
A |
C |
13: 38,209,477 (GRCm39) |
S61A |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,824,004 (GRCm39) |
T163A |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,302,532 (GRCm39) |
V2568D |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,995,951 (GRCm39) |
T166M |
probably damaging |
Het |
| Cnksr3 |
T |
C |
10: 7,076,182 (GRCm39) |
K187E |
possibly damaging |
Het |
| Cyp20a1 |
A |
G |
1: 60,415,258 (GRCm39) |
T295A |
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,757,074 (GRCm39) |
M88K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,070 (GRCm39) |
|
probably benign |
Het |
| Ecrg4 |
G |
A |
1: 43,776,412 (GRCm39) |
|
probably null |
Het |
| Efna5 |
T |
C |
17: 62,958,040 (GRCm39) |
D72G |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,378,038 (GRCm39) |
|
probably null |
Het |
| Espn |
A |
G |
4: 152,215,709 (GRCm39) |
S408P |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,252,909 (GRCm39) |
|
probably benign |
Het |
| F830016B08Rik |
G |
A |
18: 60,433,939 (GRCm39) |
V341I |
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,937 (GRCm39) |
L1013P |
possibly damaging |
Het |
| Fndc10 |
G |
A |
4: 155,779,264 (GRCm39) |
V103M |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,820 (GRCm39) |
|
probably null |
Het |
| Gltp |
C |
T |
5: 114,812,188 (GRCm39) |
R106Q |
probably damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,458,575 (GRCm39) |
Y449H |
probably damaging |
Het |
| H1f9 |
G |
A |
11: 94,858,986 (GRCm39) |
V94M |
probably damaging |
Het |
| Hmga1b |
T |
C |
11: 120,653,866 (GRCm39) |
V51A |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
| Igkv13-84 |
T |
C |
6: 68,916,783 (GRCm39) |
S27P |
possibly damaging |
Het |
| Il15ra |
A |
G |
2: 11,723,140 (GRCm39) |
N55D |
possibly damaging |
Het |
| Kctd19 |
T |
G |
8: 106,123,103 (GRCm39) |
N104H |
probably damaging |
Het |
| Kif27 |
T |
G |
13: 58,478,827 (GRCm39) |
D572A |
probably benign |
Het |
| Larp1b |
G |
A |
3: 40,918,424 (GRCm39) |
G22R |
possibly damaging |
Het |
| Lcn2 |
A |
T |
2: 32,274,655 (GRCm39) |
|
probably benign |
Het |
| Lmtk2 |
T |
A |
5: 144,111,752 (GRCm39) |
I824N |
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,856,122 (GRCm39) |
I707T |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,266,141 (GRCm39) |
|
probably null |
Het |
| Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
| Mcoln1 |
A |
G |
8: 3,555,923 (GRCm39) |
I73V |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mycbp2 |
G |
T |
14: 103,457,415 (GRCm39) |
T1627K |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,084 (GRCm39) |
E412G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,778,355 (GRCm39) |
D1370E |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,025,845 (GRCm39) |
T135A |
probably benign |
Het |
| Neb |
G |
A |
2: 52,161,051 (GRCm39) |
Q2207* |
probably null |
Het |
| Nek3 |
T |
C |
8: 22,647,055 (GRCm39) |
Y160C |
probably damaging |
Het |
| Or2y6 |
G |
C |
11: 52,104,706 (GRCm39) |
L37V |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,469 (GRCm39) |
I201N |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,105,279 (GRCm39) |
I245V |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,125,079 (GRCm39) |
I241V |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,213 (GRCm39) |
Q453R |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,980 (GRCm39) |
T318A |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,319,462 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
T |
6: 23,001,453 (GRCm39) |
A1181V |
possibly damaging |
Het |
| Racgap1 |
C |
A |
15: 99,524,087 (GRCm39) |
S440I |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,326,525 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,631,345 (GRCm39) |
V244A |
probably damaging |
Het |
| Rexo5 |
T |
G |
7: 119,418,722 (GRCm39) |
I254R |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,782,821 (GRCm39) |
S316T |
probably benign |
Het |
| Satb2 |
A |
T |
1: 56,884,778 (GRCm39) |
V382E |
probably damaging |
Het |
| Scg2 |
C |
T |
1: 79,414,381 (GRCm39) |
R114Q |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,399,857 (GRCm39) |
D893G |
possibly damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,274 (GRCm39) |
D14G |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,559 (GRCm39) |
T2018A |
probably benign |
Het |
| Spata9 |
T |
G |
13: 76,116,001 (GRCm39) |
F17V |
possibly damaging |
Het |
| Supt6 |
A |
G |
11: 78,103,572 (GRCm39) |
Y1378H |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,652 (GRCm39) |
S29P |
possibly damaging |
Het |
| Tmem59 |
A |
T |
4: 107,047,915 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,227,905 (GRCm39) |
S81P |
probably benign |
Het |
| Trbj2-4 |
T |
A |
6: 41,520,308 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,245,201 (GRCm39) |
Y533F |
probably benign |
Het |
| Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,263 (GRCm39) |
T179A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,676,704 (GRCm39) |
Q145L |
possibly 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 |
|
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'- ATGAGACCAAATGTGCCAAATG -3'
(R):5'- CATCAGGCTGTTTCTTCATGTG -3'
Sequencing Primer
(F):5'- CCAAATGTGCCAAATGTTAGTTATG -3'
(R):5'- CATGTGTCCCATTGTGCTTAAGTCAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation