Incidental Mutation 'R9645:Togaram1'
ID |
726231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram1
|
Ensembl Gene |
ENSMUSG00000035614 |
Gene Name |
TOG array regulator of axonemal microtubules 1 |
Synonyms |
A430041B07Rik, Fam179b |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
R9645 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
65012578-65069347 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 65066082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 1695
(Y1695*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066296]
[ENSMUST00000223166]
|
AlphaFold |
Q6A070 |
Predicted Effect |
probably null
Transcript: ENSMUST00000066296
AA Change: Y1645*
|
SMART Domains |
Protein: ENSMUSP00000070382 Gene: ENSMUSG00000035614 AA Change: Y1645*
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 null
Transcript: ENSMUST00000223166
AA Change: Y1695*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
C |
5: 138,644,793 (GRCm39) |
V226A |
probably benign |
Het |
Acan |
G |
T |
7: 78,749,653 (GRCm39) |
V1475F |
probably benign |
Het |
Acin1 |
T |
A |
14: 54,901,913 (GRCm39) |
R626S |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,249,121 (GRCm39) |
K662R |
probably damaging |
Het |
Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
Ano9 |
T |
G |
7: 140,687,388 (GRCm39) |
N309T |
probably benign |
Het |
Ap3d1 |
G |
A |
10: 80,545,062 (GRCm39) |
S1092L |
probably benign |
Het |
B4galt7 |
C |
T |
13: 55,756,556 (GRCm39) |
H257Y |
probably damaging |
Het |
BC051665 |
G |
T |
13: 60,932,545 (GRCm39) |
Q47K |
possibly damaging |
Het |
Brip1 |
A |
G |
11: 85,952,512 (GRCm39) |
F1090L |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,494,543 (GRCm39) |
V1612A |
probably benign |
Het |
Ccar1 |
A |
T |
10: 62,602,369 (GRCm39) |
D434E |
probably benign |
Het |
Ccdc15 |
T |
C |
9: 37,227,083 (GRCm39) |
D297G |
probably benign |
Het |
Celsr3 |
C |
A |
9: 108,704,691 (GRCm39) |
Y391* |
probably null |
Het |
Cfap52 |
A |
G |
11: 67,837,179 (GRCm39) |
I194T |
possibly damaging |
Het |
Ctif |
T |
C |
18: 75,757,352 (GRCm39) |
E67G |
probably benign |
Het |
Cxcr6 |
T |
C |
9: 123,639,151 (GRCm39) |
F58L |
possibly damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,869,593 (GRCm39) |
E142G |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,115,750 (GRCm39) |
R1549S |
possibly damaging |
Het |
Duxf3 |
A |
T |
10: 58,066,803 (GRCm39) |
H75Q |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,051,052 (GRCm39) |
I500N |
probably damaging |
Het |
F13a1 |
A |
T |
13: 37,082,154 (GRCm39) |
S517T |
probably benign |
Het |
Fbln7 |
C |
T |
2: 128,719,316 (GRCm39) |
R38C |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,667,629 (GRCm39) |
N788S |
probably benign |
Het |
Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
Gal3st2b |
T |
C |
1: 93,866,328 (GRCm39) |
S10P |
probably damaging |
Het |
Gm6899 |
G |
A |
11: 26,543,592 (GRCm39) |
C53Y |
unknown |
Het |
Hps3 |
T |
C |
3: 20,084,831 (GRCm39) |
E119G |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,038,767 (GRCm39) |
E135G |
probably damaging |
Het |
Kalrn |
G |
A |
16: 34,032,583 (GRCm39) |
T1155M |
probably benign |
Het |
Kcna6 |
G |
A |
6: 126,716,022 (GRCm39) |
A289V |
probably benign |
Het |
Kcnh5 |
T |
C |
12: 75,134,191 (GRCm39) |
M453V |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,131,320 (GRCm39) |
V75A |
possibly damaging |
Het |
Lmtk3 |
A |
T |
7: 45,450,431 (GRCm39) |
T1432S |
unknown |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Ltbp3 |
C |
G |
19: 5,802,099 (GRCm39) |
N758K |
probably damaging |
Het |
Map6d1 |
T |
A |
16: 20,055,377 (GRCm39) |
H153L |
possibly damaging |
Het |
Mefv |
A |
G |
16: 3,528,782 (GRCm39) |
L583P |
probably damaging |
Het |
Mrps28 |
T |
C |
3: 8,867,389 (GRCm39) |
T160A |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,869,390 (GRCm39) |
K1082E |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,217,783 (GRCm39) |
T2297A |
possibly damaging |
Het |
Mx1 |
G |
T |
16: 97,253,409 (GRCm39) |
D338E |
probably benign |
Het |
Myom1 |
G |
A |
17: 71,399,204 (GRCm39) |
R1120H |
probably benign |
Het |
Nif3l1 |
T |
C |
1: 58,487,074 (GRCm39) |
F87L |
probably benign |
Het |
Or1e35 |
T |
A |
11: 73,797,713 (GRCm39) |
M202L |
probably benign |
Het |
Or4p22 |
T |
C |
2: 88,317,373 (GRCm39) |
V99A |
possibly damaging |
Het |
Pex10 |
T |
A |
4: 155,153,264 (GRCm39) |
L111Q |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,154,130 (GRCm39) |
|
probably null |
Het |
Pigp |
A |
T |
16: 94,166,278 (GRCm39) |
Y143* |
probably null |
Het |
Pou2af2 |
A |
G |
9: 51,229,579 (GRCm39) |
|
probably null |
Het |
Prrc2a |
A |
G |
17: 35,381,176 (GRCm39) |
|
probably null |
Het |
Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
Rab12 |
A |
G |
17: 66,826,421 (GRCm39) |
S97P |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,220,437 (GRCm39) |
E482G |
possibly damaging |
Het |
Ros1 |
A |
G |
10: 51,948,148 (GRCm39) |
|
probably null |
Het |
Scp2 |
A |
T |
4: 107,948,519 (GRCm39) |
Y197N |
probably benign |
Het |
Serpinb10 |
T |
C |
1: 107,474,488 (GRCm39) |
F217L |
possibly damaging |
Het |
Shank3 |
T |
G |
15: 89,409,453 (GRCm39) |
M604R |
possibly damaging |
Het |
Slc22a29 |
A |
G |
19: 8,184,488 (GRCm39) |
S238P |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 109,986,410 (GRCm39) |
D237G |
probably damaging |
Het |
Stag3 |
T |
C |
5: 138,299,701 (GRCm39) |
S871P |
possibly damaging |
Het |
Tmem132d |
A |
G |
5: 128,346,075 (GRCm39) |
F149S |
probably damaging |
Het |
Tmem25 |
C |
T |
9: 44,706,515 (GRCm39) |
E333K |
|
Het |
Tox3 |
G |
A |
8: 90,984,574 (GRCm39) |
P202S |
probably damaging |
Het |
Trim34b |
T |
A |
7: 103,980,474 (GRCm39) |
N187K |
probably benign |
Het |
Vcan |
A |
G |
13: 89,841,081 (GRCm39) |
S1488P |
probably benign |
Het |
Vps26a |
A |
C |
10: 62,305,791 (GRCm39) |
V124G |
probably benign |
Het |
Vps50 |
T |
G |
6: 3,516,706 (GRCm39) |
S63A |
possibly damaging |
Het |
Wbp4 |
T |
A |
14: 79,707,553 (GRCm39) |
E186V |
possibly damaging |
Het |
Zfp52 |
A |
G |
17: 21,781,937 (GRCm39) |
D595G |
possibly damaging |
Het |
Zfr2 |
C |
A |
10: 81,084,252 (GRCm39) |
S1* |
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 |
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 |
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'- CCAGATCTTTGATGCTTTTAAGTCTCG -3'
(R):5'- CCATGACATAATTTCCATGTTATGCCC -3'
Sequencing Primer
(F):5'- AGTCTCGACTTCATGATTCTAACAGC -3'
(R):5'- ATTTCCATGTTATGCCCCAAAAGC -3'
|
Posted On |
2022-09-12 |