Incidental Mutation 'R6221:Togaram1'
| ID |
504039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram1
|
| Ensembl Gene |
ENSMUSG00000035614 |
| Gene Name |
TOG array regulator of axonemal microtubules 1 |
| Synonyms |
A430041B07Rik, Fam179b |
| MMRRC Submission |
044432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R6221 (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 T
at 65013320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 190
(E190D)
|
| 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: E190D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: E190D
| 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: E163D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223166
AA Change: E190D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1539 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,824,874 (GRCm39) |
M108V |
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,316 (GRCm39) |
Q1236* |
probably null |
Het |
| Adprhl1 |
T |
C |
8: 13,275,634 (GRCm39) |
I375V |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,765 (GRCm39) |
S3663P |
unknown |
Het |
| Cfap44 |
A |
T |
16: 44,257,549 (GRCm39) |
Q1028L |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Col1a2 |
T |
C |
6: 4,539,490 (GRCm39) |
S1253P |
unknown |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,004,799 (GRCm39) |
Y949C |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,823,152 (GRCm39) |
Y164C |
probably benign |
Het |
| Evx1 |
T |
A |
6: 52,293,768 (GRCm39) |
V312E |
probably damaging |
Het |
| Fam240b |
T |
C |
13: 64,629,591 (GRCm39) |
N75S |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,186,898 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
T |
2: 125,162,841 (GRCm39) |
D2148E |
probably benign |
Het |
| Fzd4 |
A |
G |
7: 89,054,100 (GRCm39) |
H69R |
probably damaging |
Het |
| Fzd6 |
T |
C |
15: 38,894,239 (GRCm39) |
V135A |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,635,876 (GRCm39) |
L547S |
probably damaging |
Het |
| Gnrhr |
G |
A |
5: 86,333,262 (GRCm39) |
Q203* |
probably null |
Het |
| Gpaa1 |
T |
G |
15: 76,218,032 (GRCm39) |
V341G |
probably benign |
Het |
| Grik3 |
T |
A |
4: 125,598,916 (GRCm39) |
L828Q |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,074,383 (GRCm39) |
N1568S |
probably benign |
Het |
| Hpf1 |
T |
A |
8: 61,346,808 (GRCm39) |
V41E |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,472 (GRCm39) |
M173K |
probably benign |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,849 (GRCm39) |
I150T |
probably benign |
Het |
| Ica1 |
C |
G |
6: 8,644,181 (GRCm39) |
L369F |
possibly damaging |
Het |
| Inf2 |
T |
G |
12: 112,570,179 (GRCm39) |
S293A |
possibly damaging |
Het |
| Klra10 |
T |
C |
6: 130,246,235 (GRCm39) |
T247A |
probably benign |
Het |
| Kpna1 |
G |
A |
16: 35,841,058 (GRCm39) |
G91D |
probably benign |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Ltb4r2 |
C |
T |
14: 55,999,540 (GRCm39) |
R54W |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,299,643 (GRCm39) |
F1797S |
probably benign |
Het |
| Mlh3 |
C |
A |
12: 85,315,192 (GRCm39) |
Q331H |
possibly damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,596,903 (GRCm39) |
L410P |
probably damaging |
Het |
| Or5b124 |
T |
A |
19: 13,610,830 (GRCm39) |
Y118* |
probably null |
Het |
| Oxct2b |
T |
C |
4: 123,010,601 (GRCm39) |
Y174H |
probably damaging |
Het |
| Pakap |
C |
T |
4: 57,855,618 (GRCm39) |
Q559* |
probably null |
Het |
| Pclo |
G |
A |
5: 14,725,327 (GRCm39) |
R1395Q |
unknown |
Het |
| Ppara |
A |
G |
15: 85,661,881 (GRCm39) |
I41V |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,657,753 (GRCm39) |
I766K |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,693,092 (GRCm39) |
N483S |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,336,236 (GRCm39) |
I1478T |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,019,175 (GRCm39) |
V121A |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,702,316 (GRCm39) |
Q610R |
probably null |
Het |
| Slc1a6 |
A |
G |
10: 78,635,910 (GRCm39) |
E325G |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,839,305 (GRCm39) |
I303V |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,630,362 (GRCm39) |
V1123E |
probably damaging |
Het |
| Smco1 |
G |
A |
16: 32,092,023 (GRCm39) |
V34I |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,197,949 (GRCm39) |
R304G |
probably benign |
Het |
| Spata31f1e |
A |
T |
4: 42,793,153 (GRCm39) |
N326K |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,009,342 (GRCm39) |
D293G |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,440,639 (GRCm39) |
P1751Q |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,612,908 (GRCm39) |
Y631N |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,970 (GRCm39) |
N172S |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,480,427 (GRCm39) |
E321G |
probably damaging |
Het |
| Tcstv5 |
T |
G |
13: 120,411,534 (GRCm39) |
H24P |
probably damaging |
Het |
| Thbs1 |
C |
A |
2: 117,950,478 (GRCm39) |
L704M |
probably damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Traf1 |
A |
C |
2: 34,838,313 (GRCm39) |
V175G |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,180,528 (GRCm39) |
C222S |
probably damaging |
Het |
| Tsen34 |
T |
A |
7: 3,698,543 (GRCm39) |
I229N |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,419,114 (GRCm39) |
D1370G |
probably benign |
Het |
| Ugt1a5 |
G |
A |
1: 88,093,964 (GRCm39) |
R64H |
probably benign |
Het |
| Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
| Vdac3 |
A |
G |
8: 23,078,759 (GRCm39) |
V17A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,945,207 (GRCm39) |
T220I |
possibly damaging |
Het |
| Zfp846 |
T |
G |
9: 20,504,591 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,068,665 (GRCm39) |
H181Q |
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 |
|
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 |
|
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'- CGCAAGGAAGCCTTATATCGGG -3'
(R):5'- TCCTGATCGCCAAGCTTTCG -3'
Sequencing Primer
(F):5'- GCCTTATATCGGGCGCTG -3'
(R):5'- GCTTTCGGGCCAGAGATATTATTAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation