Incidental Mutation 'R7968:Togaram2'
ID |
650484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram2
|
Ensembl Gene |
ENSMUSG00000045761 |
Gene Name |
TOG array regulator of axonemal microtubules 2 |
Synonyms |
Fam179a, 4632412N22Rik |
MMRRC Submission |
046011-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R7968 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72024428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 871
(S871P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097284]
[ENSMUST00000144479]
[ENSMUST00000153445]
|
AlphaFold |
Q3TYG6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097284
AA Change: S851P
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000094886 Gene: ENSMUSG00000045761 AA Change: S851P
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 |
probably benign
Transcript: ENSMUST00000144479
AA Change: S871P
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114359 Gene: ENSMUSG00000045761 AA Change: S871P
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 |
probably benign
Transcript: ENSMUST00000153445
AA Change: S851P
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122691 Gene: ENSMUSG00000045761 AA Change: S851P
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
G |
6: 91,922,441 (GRCm39) |
T35A |
|
Het |
Adamts16 |
A |
C |
13: 70,886,701 (GRCm39) |
S1030A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Aff4 |
C |
T |
11: 53,300,175 (GRCm39) |
T1026I |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,243,145 (GRCm39) |
Y1065C |
probably damaging |
Het |
Arhgef3 |
G |
T |
14: 27,108,070 (GRCm39) |
D192Y |
probably damaging |
Het |
Arhgef3 |
G |
A |
14: 27,116,062 (GRCm39) |
R268Q |
probably damaging |
Het |
Atp6v0e |
T |
A |
17: 26,913,885 (GRCm39) |
|
probably null |
Het |
B3galt9 |
A |
G |
2: 34,728,257 (GRCm39) |
N19D |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,181,551 (GRCm39) |
Y605H |
probably benign |
Het |
Cftr |
T |
C |
6: 18,226,048 (GRCm39) |
V332A |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,091,118 (GRCm39) |
H219R |
|
Het |
Csnk1g3 |
C |
T |
18: 54,028,726 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
T |
C |
17: 32,743,116 (GRCm39) |
V263A |
possibly damaging |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Entrep1 |
G |
T |
19: 23,962,091 (GRCm39) |
T304K |
probably damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Gstm4 |
A |
T |
3: 107,951,677 (GRCm39) |
M35K |
probably damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,460 (GRCm39) |
Y347C |
possibly damaging |
Het |
Kcnh7 |
G |
A |
2: 62,566,444 (GRCm39) |
T829M |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,400,898 (GRCm39) |
V682A |
probably benign |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Kera |
A |
G |
10: 97,444,821 (GRCm39) |
E60G |
possibly damaging |
Het |
Letm2 |
C |
T |
8: 26,083,766 (GRCm39) |
G155D |
probably damaging |
Het |
Lrfn4 |
G |
A |
19: 4,663,343 (GRCm39) |
A397V |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,324,424 (GRCm39) |
Q1253R |
possibly damaging |
Het |
Mob1a |
T |
A |
6: 83,315,287 (GRCm39) |
M145K |
probably benign |
Het |
Nab1 |
A |
G |
1: 52,529,295 (GRCm39) |
C201R |
probably damaging |
Het |
Nlrp9b |
A |
G |
7: 19,762,493 (GRCm39) |
E710G |
probably benign |
Het |
Oas2 |
A |
G |
5: 120,876,437 (GRCm39) |
V502A |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,154 (GRCm39) |
S137G |
probably benign |
Het |
Or52d3 |
T |
A |
7: 104,229,595 (GRCm39) |
C247* |
probably null |
Het |
Or52h7 |
A |
T |
7: 104,213,857 (GRCm39) |
H143L |
probably benign |
Het |
Parg |
A |
T |
14: 31,936,327 (GRCm39) |
H494L |
possibly damaging |
Het |
Phf20 |
T |
A |
2: 156,135,464 (GRCm39) |
D600E |
probably benign |
Het |
Ppef2 |
G |
A |
5: 92,397,022 (GRCm39) |
R118C |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 22,959,675 (GRCm39) |
N57K |
probably damaging |
Het |
Rrbp1 |
A |
T |
2: 143,832,081 (GRCm39) |
S29T |
probably damaging |
Het |
Sema3g |
C |
A |
14: 30,942,605 (GRCm39) |
R69S |
probably damaging |
Het |
Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
Slc4a3 |
A |
G |
1: 75,528,007 (GRCm39) |
T419A |
probably benign |
Het |
Smc3 |
T |
C |
19: 53,611,649 (GRCm39) |
|
probably null |
Het |
Sntg1 |
C |
T |
1: 8,535,760 (GRCm39) |
W288* |
probably null |
Het |
Synpo2l |
G |
T |
14: 20,716,870 (GRCm39) |
|
probably null |
Het |
Tap1 |
A |
G |
17: 34,413,886 (GRCm39) |
I634V |
probably damaging |
Het |
Tmem25 |
A |
G |
9: 44,706,983 (GRCm39) |
S278P |
probably benign |
Het |
Trim37 |
T |
C |
11: 87,040,179 (GRCm39) |
V225A |
possibly damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
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 |
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 |
R9458:Togaram2
|
UTSW |
17 |
72,024,246 (GRCm39) |
missense |
possibly damaging |
0.93 |
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'- ACCCCAAGGCTTCACGATTC -3'
(R):5'- AGACCCACGCAGTACCTAGTAG -3'
Sequencing Primer
(F):5'- GGCTTCACGATTCCAACAAG -3'
(R):5'- GGGTTTCCAAAGCTCAAGC -3'
|
Posted On |
2020-09-15 |