Incidental Mutation 'R9458:Togaram2'
ID |
714729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram2
|
Ensembl Gene |
ENSMUSG00000045761 |
Gene Name |
TOG array regulator of axonemal microtubules 2 |
Synonyms |
Fam179a, 4632412N22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R9458 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72024246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 810
(V810A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097284]
[ENSMUST00000144479]
[ENSMUST00000153445]
|
AlphaFold |
Q3TYG6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097284
AA Change: V790A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000094886 Gene: ENSMUSG00000045761 AA Change: V790A
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
low complexity region
|
467 |
474 |
N/A |
INTRINSIC |
Pfam:CLASP_N
|
492 |
705 |
2.3e-21 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144479
AA Change: V810A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114359 Gene: ENSMUSG00000045761 AA Change: V810A
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
low complexity region
|
468 |
475 |
N/A |
INTRINSIC |
Pfam:CLASP_N
|
493 |
706 |
2.4e-21 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153445
AA Change: V790A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122691 Gene: ENSMUSG00000045761 AA Change: V790A
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
low complexity region
|
467 |
474 |
N/A |
INTRINSIC |
Pfam:CLASP_N
|
492 |
705 |
2.3e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010K14Rik |
T |
C |
11: 70,127,731 (GRCm39) |
I64V |
possibly damaging |
Het |
4921539E11Rik |
T |
A |
4: 103,141,608 (GRCm39) |
I18L |
possibly damaging |
Het |
Arcn1 |
A |
G |
9: 44,671,267 (GRCm39) |
S87P |
probably damaging |
Het |
Bmp7 |
G |
A |
2: 172,721,268 (GRCm39) |
P269L |
possibly damaging |
Het |
Cdhr18 |
A |
T |
14: 13,856,709 (GRCm38) |
F467L |
|
Het |
Clrn2 |
A |
T |
5: 45,617,513 (GRCm39) |
Y128F |
possibly damaging |
Het |
Col2a1 |
G |
A |
15: 97,876,242 (GRCm39) |
R1192C |
unknown |
Het |
Col6a6 |
A |
G |
9: 105,586,361 (GRCm39) |
F1887L |
probably benign |
Het |
Crocc2 |
G |
T |
1: 93,145,516 (GRCm39) |
A1466S |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,049,777 (GRCm39) |
N4313D |
probably damaging |
Het |
Dzip1 |
T |
C |
14: 119,148,785 (GRCm39) |
E298G |
probably damaging |
Het |
Eif2b4 |
C |
A |
5: 31,350,609 (GRCm39) |
|
probably benign |
Het |
Emx1 |
T |
A |
6: 85,181,042 (GRCm39) |
V253D |
probably damaging |
Het |
Enah |
A |
T |
1: 181,746,107 (GRCm39) |
S654R |
unknown |
Het |
F2 |
A |
T |
2: 91,461,113 (GRCm39) |
N207K |
probably benign |
Het |
Flcn |
G |
T |
11: 59,690,208 (GRCm39) |
D281E |
possibly damaging |
Het |
Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,235,043 (GRCm39) |
N226S |
probably benign |
Het |
Igfbp6 |
A |
G |
15: 102,057,634 (GRCm39) |
N205S |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,743,407 (GRCm39) |
L1655P |
probably damaging |
Het |
Mndal |
A |
G |
1: 173,687,749 (GRCm39) |
F495S |
probably damaging |
Het |
Panx2 |
A |
G |
15: 88,952,057 (GRCm39) |
K175E |
possibly damaging |
Het |
Panx2 |
A |
C |
15: 88,952,058 (GRCm39) |
K175T |
probably damaging |
Het |
Pde6a |
A |
T |
18: 61,387,477 (GRCm39) |
Y456F |
probably damaging |
Het |
Phf21b |
A |
G |
15: 84,738,995 (GRCm39) |
L22P |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,659,247 (GRCm39) |
I83T |
probably damaging |
Het |
Sfrp5 |
T |
C |
19: 42,190,296 (GRCm39) |
D52G |
probably benign |
Het |
Sgsm2 |
A |
G |
11: 74,759,557 (GRCm39) |
S102P |
possibly damaging |
Het |
Slc7a2 |
T |
G |
8: 41,352,330 (GRCm39) |
I131S |
probably damaging |
Het |
Snupn |
A |
T |
9: 56,890,039 (GRCm39) |
I287F |
possibly damaging |
Het |
Synj1 |
T |
G |
16: 90,766,200 (GRCm39) |
I573L |
probably benign |
Het |
Tmcc2 |
T |
G |
1: 132,286,747 (GRCm39) |
D568A |
probably damaging |
Het |
Tmf1 |
G |
T |
6: 97,153,382 (GRCm39) |
H230Q |
probably benign |
Het |
Vmn1r169 |
T |
C |
7: 23,276,628 (GRCm39) |
S7P |
possibly damaging |
Het |
Vwce |
A |
G |
19: 10,631,688 (GRCm39) |
T550A |
possibly damaging |
Het |
Zbtb12 |
T |
C |
17: 35,115,367 (GRCm39) |
V384A |
possibly damaging |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,480,639 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Togaram2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00943:Togaram2
|
APN |
17 |
72,031,999 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01298:Togaram2
|
APN |
17 |
72,023,508 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01625:Togaram2
|
APN |
17 |
72,021,693 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01691:Togaram2
|
APN |
17 |
72,036,485 (GRCm39) |
missense |
probably null |
0.02 |
IGL02165:Togaram2
|
APN |
17 |
72,004,861 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02186:Togaram2
|
APN |
17 |
71,992,166 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02664:Togaram2
|
APN |
17 |
72,036,234 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02712:Togaram2
|
APN |
17 |
72,011,749 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03000:Togaram2
|
APN |
17 |
72,024,365 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03209:Togaram2
|
APN |
17 |
72,002,740 (GRCm39) |
critical splice donor site |
probably null |
|
R0211:Togaram2
|
UTSW |
17 |
72,036,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R0212:Togaram2
|
UTSW |
17 |
72,031,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Togaram2
|
UTSW |
17 |
72,021,225 (GRCm39) |
splice site |
probably benign |
|
R0268:Togaram2
|
UTSW |
17 |
72,004,993 (GRCm39) |
critical splice donor site |
probably null |
|
R0617:Togaram2
|
UTSW |
17 |
72,007,504 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0831:Togaram2
|
UTSW |
17 |
72,023,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R0972:Togaram2
|
UTSW |
17 |
72,014,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Togaram2
|
UTSW |
17 |
72,004,846 (GRCm39) |
missense |
probably benign |
0.05 |
R1799:Togaram2
|
UTSW |
17 |
71,998,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R2062:Togaram2
|
UTSW |
17 |
72,023,360 (GRCm39) |
missense |
probably benign |
0.26 |
R2414:Togaram2
|
UTSW |
17 |
72,023,304 (GRCm39) |
intron |
probably benign |
|
R2866:Togaram2
|
UTSW |
17 |
72,016,592 (GRCm39) |
missense |
probably benign |
0.00 |
R2867:Togaram2
|
UTSW |
17 |
72,016,592 (GRCm39) |
missense |
probably benign |
0.00 |
R2867:Togaram2
|
UTSW |
17 |
72,016,592 (GRCm39) |
missense |
probably benign |
0.00 |
R4066:Togaram2
|
UTSW |
17 |
72,023,233 (GRCm39) |
intron |
probably benign |
|
R4807:Togaram2
|
UTSW |
17 |
72,004,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R5659:Togaram2
|
UTSW |
17 |
71,994,667 (GRCm39) |
missense |
probably damaging |
0.96 |
R5680:Togaram2
|
UTSW |
17 |
71,996,204 (GRCm39) |
missense |
probably benign |
0.00 |
R5975:Togaram2
|
UTSW |
17 |
72,036,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5996:Togaram2
|
UTSW |
17 |
72,011,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R6619:Togaram2
|
UTSW |
17 |
71,996,266 (GRCm39) |
missense |
probably damaging |
0.99 |
R6682:Togaram2
|
UTSW |
17 |
72,011,749 (GRCm39) |
missense |
probably benign |
0.04 |
R6922:Togaram2
|
UTSW |
17 |
72,014,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R6956:Togaram2
|
UTSW |
17 |
72,036,183 (GRCm39) |
missense |
probably benign |
0.00 |
R6968:Togaram2
|
UTSW |
17 |
72,016,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R7007:Togaram2
|
UTSW |
17 |
72,016,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R7015:Togaram2
|
UTSW |
17 |
72,016,563 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7140:Togaram2
|
UTSW |
17 |
72,021,761 (GRCm39) |
missense |
probably benign |
0.00 |
R7383:Togaram2
|
UTSW |
17 |
72,007,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R7691:Togaram2
|
UTSW |
17 |
72,023,405 (GRCm39) |
missense |
probably benign |
0.16 |
R7778:Togaram2
|
UTSW |
17 |
72,011,746 (GRCm39) |
missense |
probably benign |
0.00 |
R7824:Togaram2
|
UTSW |
17 |
72,011,746 (GRCm39) |
missense |
probably benign |
0.00 |
R7862:Togaram2
|
UTSW |
17 |
71,996,168 (GRCm39) |
missense |
probably benign |
0.00 |
R7864:Togaram2
|
UTSW |
17 |
72,007,935 (GRCm39) |
missense |
probably damaging |
0.96 |
R7968:Togaram2
|
UTSW |
17 |
72,024,428 (GRCm39) |
missense |
probably benign |
0.18 |
R8125:Togaram2
|
UTSW |
17 |
72,023,489 (GRCm39) |
missense |
probably benign |
0.16 |
R8227:Togaram2
|
UTSW |
17 |
72,021,237 (GRCm39) |
nonsense |
probably null |
|
R8331:Togaram2
|
UTSW |
17 |
72,036,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Togaram2
|
UTSW |
17 |
72,004,873 (GRCm39) |
missense |
probably benign |
0.00 |
R8454:Togaram2
|
UTSW |
17 |
72,004,873 (GRCm39) |
missense |
probably benign |
0.00 |
R9043:Togaram2
|
UTSW |
17 |
71,993,699 (GRCm39) |
missense |
probably benign |
0.00 |
R9050:Togaram2
|
UTSW |
17 |
72,007,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Togaram2
|
UTSW |
17 |
71,996,408 (GRCm39) |
missense |
probably damaging |
0.97 |
R9305:Togaram2
|
UTSW |
17 |
71,996,408 (GRCm39) |
missense |
probably damaging |
0.97 |
R9660:Togaram2
|
UTSW |
17 |
72,024,365 (GRCm39) |
missense |
probably damaging |
0.98 |
R9776:Togaram2
|
UTSW |
17 |
72,023,508 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0063:Togaram2
|
UTSW |
17 |
72,014,192 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:Togaram2
|
UTSW |
17 |
72,021,275 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1177:Togaram2
|
UTSW |
17 |
72,007,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGATGATTGACACGTGAATAC -3'
(R):5'- CATCATGGCATCCAGTACGG -3'
Sequencing Primer
(F):5'- TTGACACGTGAATACAGTCCGTG -3'
(R):5'- TCCAGTACGGTGGAGGCAG -3'
|
Posted On |
2022-06-15 |