Incidental Mutation 'R7862:Togaram2'
ID |
607617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram2
|
Ensembl Gene |
ENSMUSG00000045761 |
Gene Name |
TOG array regulator of axonemal microtubules 2 |
Synonyms |
Fam179a, 4632412N22Rik |
MMRRC Submission |
045915-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R7862 (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 71996168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 57
(V57A)
|
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: V56A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000094886 Gene: ENSMUSG00000045761 AA Change: V56A
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: V57A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000114359 Gene: ENSMUSG00000045761 AA Change: V57A
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: V56A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000122691 Gene: ENSMUSG00000045761 AA Change: V56A
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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
A |
C |
3: 145,649,624 (GRCm39) |
*181S |
probably null |
Het |
Abcc10 |
G |
T |
17: 46,626,458 (GRCm39) |
S661* |
probably null |
Het |
Abtb2 |
C |
T |
2: 103,532,626 (GRCm39) |
R475W |
probably damaging |
Het |
Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,684,983 (GRCm39) |
M144T |
possibly damaging |
Het |
Chd8 |
T |
C |
14: 52,451,734 (GRCm39) |
D1372G |
probably damaging |
Het |
Chmp6 |
G |
A |
11: 119,807,836 (GRCm39) |
|
probably null |
Het |
Cst12 |
T |
C |
2: 148,631,495 (GRCm39) |
V72A |
probably damaging |
Het |
D1Pas1 |
G |
A |
1: 186,700,349 (GRCm39) |
G93R |
probably damaging |
Het |
Dhx34 |
C |
A |
7: 15,944,448 (GRCm39) |
V589F |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dmrta1 |
C |
A |
4: 89,576,561 (GRCm39) |
H6N |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,546,851 (GRCm39) |
L285P |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,386,730 (GRCm39) |
Y188C |
probably damaging |
Het |
Ehbp1l1 |
C |
T |
19: 5,770,851 (GRCm39) |
R230Q |
probably benign |
Het |
Ep300 |
T |
G |
15: 81,534,954 (GRCm39) |
V2337G |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,442,400 (GRCm39) |
V150E |
probably damaging |
Het |
Fkbp11 |
G |
A |
15: 98,624,389 (GRCm39) |
R122* |
probably null |
Het |
Fkbp5 |
C |
T |
17: 28,631,013 (GRCm39) |
E251K |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,071,756 (GRCm39) |
K88E |
probably damaging |
Het |
Frrs1 |
T |
C |
3: 116,685,529 (GRCm39) |
V300A |
possibly damaging |
Het |
Glud1 |
T |
G |
14: 34,047,479 (GRCm39) |
L198V |
possibly damaging |
Het |
Gsdmc |
A |
T |
15: 63,649,845 (GRCm39) |
W349R |
possibly damaging |
Het |
Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
Haus2 |
T |
A |
2: 120,443,570 (GRCm39) |
D75E |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,682,172 (GRCm39) |
F459L |
probably damaging |
Het |
Ighe |
A |
T |
12: 113,235,428 (GRCm39) |
V272E |
|
Het |
Iqgap1 |
C |
T |
7: 80,393,636 (GRCm39) |
R647H |
probably benign |
Het |
Jmy |
T |
C |
13: 93,635,703 (GRCm39) |
I38V |
possibly damaging |
Het |
Kcnh1 |
G |
T |
1: 191,873,167 (GRCm39) |
|
probably benign |
Het |
Kctd20 |
C |
T |
17: 29,181,849 (GRCm39) |
A167V |
probably damaging |
Het |
Klhl38 |
A |
T |
15: 58,178,395 (GRCm39) |
V525E |
probably damaging |
Het |
Krit1 |
A |
G |
5: 3,862,788 (GRCm39) |
D259G |
probably damaging |
Het |
Med1 |
A |
T |
11: 98,052,036 (GRCm39) |
C443S |
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,556,631 (GRCm39) |
V107A |
probably benign |
Het |
Myl7 |
A |
G |
11: 5,847,157 (GRCm39) |
M132T |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,666,522 (GRCm39) |
V11A |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,355,236 (GRCm39) |
I1642V |
probably benign |
Het |
Or4a47 |
T |
C |
2: 89,665,468 (GRCm39) |
T274A |
probably benign |
Het |
Or6c214 |
T |
C |
10: 129,591,224 (GRCm39) |
T32A |
probably benign |
Het |
Or7g25 |
C |
A |
9: 19,160,736 (GRCm39) |
|
probably benign |
Het |
Or8b3b |
C |
T |
9: 38,584,624 (GRCm39) |
V39M |
probably benign |
Het |
Pcdhb2 |
C |
T |
18: 37,429,113 (GRCm39) |
A362V |
probably benign |
Het |
Pnp2 |
A |
T |
14: 51,201,016 (GRCm39) |
D167V |
possibly damaging |
Het |
Rasa1 |
G |
A |
13: 85,403,530 (GRCm39) |
T282I |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,265,476 (GRCm39) |
D354G |
probably damaging |
Het |
Rpap1 |
C |
T |
2: 119,605,893 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Shank3 |
A |
G |
15: 89,389,648 (GRCm39) |
D415G |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,003,014 (GRCm39) |
I182V |
probably damaging |
Het |
Slc6a13 |
A |
G |
6: 121,312,589 (GRCm39) |
Y441C |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,479,446 (GRCm39) |
E193* |
probably null |
Het |
Spag9 |
T |
C |
11: 94,002,892 (GRCm39) |
I1134T |
possibly damaging |
Het |
Spta1 |
G |
A |
1: 174,025,351 (GRCm39) |
|
probably null |
Het |
Stk3 |
A |
G |
15: 35,115,732 (GRCm39) |
V29A |
possibly damaging |
Het |
Tgfbr1 |
A |
T |
4: 47,403,489 (GRCm39) |
I365F |
probably damaging |
Het |
Thpo |
C |
T |
16: 20,547,540 (GRCm39) |
V24I |
probably benign |
Het |
Tle1 |
A |
C |
4: 72,117,552 (GRCm39) |
L36R |
probably damaging |
Het |
Ttll9 |
C |
T |
2: 152,848,895 (GRCm39) |
A459V |
probably benign |
Het |
Ush1c |
T |
C |
7: 45,870,848 (GRCm39) |
I330V |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,414,718 (GRCm39) |
M2906T |
|
Het |
Vmn2r28 |
A |
T |
7: 5,493,613 (GRCm39) |
M111K |
probably benign |
Het |
Vmn2r97 |
T |
C |
17: 19,167,416 (GRCm39) |
C557R |
probably damaging |
Het |
Zfp873 |
T |
A |
10: 81,896,109 (GRCm39) |
I280K |
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 |
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 |
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'- GACAATGTGGTTGAGCTTTTAAAGC -3'
(R):5'- ACACTGCTGGCCTCTGATTC -3'
Sequencing Primer
(F):5'- CACGTTTCCAGGTTCTAGGAC -3'
(R):5'- TTCCAGGGAGGGAATAGCTGC -3'
|
Posted On |
2019-12-20 |