Incidental Mutation 'R8454:Togaram2'
ID |
654963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram2
|
Ensembl Gene |
ENSMUSG00000045761 |
Gene Name |
TOG array regulator of axonemal microtubules 2 |
Synonyms |
Fam179a, 4632412N22Rik |
MMRRC Submission |
067831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R8454 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 72004873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glycine
at position 310
(A310G)
|
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: A309G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000094886 Gene: ENSMUSG00000045761 AA Change: A309G
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: A310G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114359 Gene: ENSMUSG00000045761 AA Change: A310G
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: A309G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122691 Gene: ENSMUSG00000045761 AA Change: A309G
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
A |
17: 46,635,103 (GRCm39) |
G300V |
possibly damaging |
Het |
Adgrg7 |
C |
G |
16: 56,616,045 (GRCm39) |
|
probably benign |
Het |
Agt |
G |
A |
8: 125,290,842 (GRCm39) |
T155M |
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,361,633 (GRCm39) |
V763A |
probably benign |
Het |
Btn1a1 |
C |
A |
13: 23,648,420 (GRCm39) |
V138L |
probably benign |
Het |
Cd163 |
A |
T |
6: 124,305,924 (GRCm39) |
N1109I |
probably benign |
Het |
Cideb |
T |
A |
14: 55,992,598 (GRCm39) |
Q106L |
possibly damaging |
Het |
Cntn1 |
A |
G |
15: 92,130,130 (GRCm39) |
T126A |
probably benign |
Het |
Dnai3 |
T |
C |
3: 145,802,982 (GRCm39) |
K70E |
probably damaging |
Het |
Elfn1 |
T |
C |
5: 139,957,226 (GRCm39) |
Y77H |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,912,358 (GRCm39) |
H386R |
probably damaging |
Het |
Fbxo21 |
A |
G |
5: 118,133,479 (GRCm39) |
D413G |
probably damaging |
Het |
Fkbp8 |
T |
A |
8: 70,984,413 (GRCm39) |
|
probably null |
Het |
Fzd1 |
T |
C |
5: 4,807,336 (GRCm39) |
Q82R |
probably benign |
Het |
Gast |
T |
C |
11: 100,227,394 (GRCm39) |
L29P |
probably benign |
Het |
Glb1l2 |
C |
A |
9: 26,717,713 (GRCm39) |
|
probably benign |
Het |
Gm1110 |
C |
G |
9: 26,794,576 (GRCm39) |
Q483H |
probably benign |
Het |
Gm1110 |
T |
A |
9: 26,794,577 (GRCm39) |
Q483L |
probably benign |
Het |
Gpc6 |
T |
C |
14: 117,163,391 (GRCm39) |
L15P |
probably damaging |
Het |
Hagh |
C |
A |
17: 25,076,536 (GRCm39) |
S161* |
probably null |
Het |
Hrh1 |
A |
G |
6: 114,457,814 (GRCm39) |
D365G |
probably benign |
Het |
Ighv1-36 |
A |
T |
12: 114,843,560 (GRCm39) |
M100K |
probably damaging |
Het |
Itgb8 |
A |
T |
12: 119,134,513 (GRCm39) |
V518D |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,450,238 (GRCm39) |
Y486C |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,810,357 (GRCm39) |
S85P |
probably damaging |
Het |
Met |
A |
G |
6: 17,491,768 (GRCm39) |
S177G |
probably damaging |
Het |
Myl9 |
T |
A |
2: 156,623,048 (GRCm39) |
I162N |
possibly damaging |
Het |
Npat |
T |
A |
9: 53,478,251 (GRCm39) |
N973K |
possibly damaging |
Het |
Or5p68 |
A |
T |
7: 107,945,889 (GRCm39) |
C100S |
probably damaging |
Het |
Pcdhga12 |
A |
T |
18: 37,901,190 (GRCm39) |
D674V |
possibly damaging |
Het |
Phtf1 |
T |
A |
3: 103,911,765 (GRCm39) |
N702K |
probably damaging |
Het |
Plaa |
A |
T |
4: 94,457,714 (GRCm39) |
I752N |
probably damaging |
Het |
Pnpla2 |
T |
C |
7: 141,038,011 (GRCm39) |
C194R |
probably damaging |
Het |
Rnaseh2a |
T |
C |
8: 85,691,776 (GRCm39) |
N133S |
probably benign |
Het |
Rps6ka1 |
T |
A |
4: 133,575,864 (GRCm39) |
Q685L |
probably benign |
Het |
Ryr1 |
C |
A |
7: 28,715,142 (GRCm39) |
G4661C |
unknown |
Het |
Samd13 |
T |
A |
3: 146,352,157 (GRCm39) |
M65L |
probably benign |
Het |
Sdr42e2 |
T |
A |
7: 120,430,403 (GRCm39) |
V420E |
possibly damaging |
Het |
Sec22c |
A |
G |
9: 121,524,721 (GRCm39) |
S21P |
probably damaging |
Het |
Sh3d19 |
C |
A |
3: 86,014,329 (GRCm39) |
T431K |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,468,108 (GRCm39) |
M277V |
probably benign |
Het |
Sis |
T |
C |
3: 72,854,834 (GRCm39) |
T468A |
possibly damaging |
Het |
Slitrk3 |
T |
C |
3: 72,956,513 (GRCm39) |
N753S |
probably benign |
Het |
Slitrk6 |
C |
A |
14: 110,989,478 (GRCm39) |
L76F |
probably damaging |
Het |
Stk3 |
C |
T |
15: 34,876,870 (GRCm39) |
A478T |
probably damaging |
Het |
Styxl2 |
A |
T |
1: 165,935,702 (GRCm39) |
N165K |
probably damaging |
Het |
Sugp1 |
C |
A |
8: 70,524,247 (GRCm39) |
Y617* |
probably null |
Het |
Tinag |
T |
C |
9: 76,938,977 (GRCm39) |
D167G |
probably damaging |
Het |
Tk2 |
A |
G |
8: 104,967,746 (GRCm39) |
|
probably null |
Het |
Tmem209 |
A |
T |
6: 30,489,308 (GRCm39) |
V514D |
probably damaging |
Het |
Tmprss9 |
A |
G |
10: 80,723,320 (GRCm39) |
H260R |
probably benign |
Het |
Tnfrsf14 |
T |
A |
4: 155,011,112 (GRCm39) |
Y83F |
possibly damaging |
Het |
Tnfrsf8 |
A |
T |
4: 145,014,553 (GRCm39) |
D285E |
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,182,448 (GRCm39) |
Y544C |
probably damaging |
Het |
Ttl |
T |
A |
2: 128,908,104 (GRCm39) |
V13D |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,908,694 (GRCm39) |
D602E |
probably benign |
Het |
Vamp5 |
A |
G |
6: 72,347,376 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,402 (GRCm39) |
H838L |
possibly damaging |
Het |
Vps35l |
T |
A |
7: 118,391,795 (GRCm39) |
F493Y |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,461 (GRCm39) |
Y392N |
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 |
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 |
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'- TGGCAATGCTAACTTCCCC -3'
(R):5'- TGCCGCACAGCAGATTTTAG -3'
Sequencing Primer
(F):5'- AACTTCCCCCTTAGGAAAGTGTGG -3'
(R):5'- TAGAAGCGTGCTTGTATCCAGCC -3'
|
Posted On |
2020-10-20 |