Incidental Mutation 'IGL02186:Togaram2'
ID |
283665 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Togaram2
|
Ensembl Gene |
ENSMUSG00000045761 |
Gene Name |
TOG array regulator of axonemal microtubules 2 |
Synonyms |
Fam179a, 4632412N22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL02186
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71992166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097284]
[ENSMUST00000144479]
[ENSMUST00000153445]
|
AlphaFold |
Q3TYG6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097284
AA Change: T3A
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000094886 Gene: ENSMUSG00000045761 AA Change: T3A
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 |
noncoding transcript
Transcript: ENSMUST00000122869
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144479
|
SMART Domains |
Protein: ENSMUSP00000114359 Gene: ENSMUSG00000045761
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: T3A
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122691 Gene: ENSMUSG00000045761 AA Change: T3A
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 |
noncoding transcript
Transcript: ENSMUST00000156665
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
A |
G |
5: 66,145,811 (GRCm39) |
F100S |
unknown |
Het |
Abca3 |
A |
G |
17: 24,596,714 (GRCm39) |
Y389C |
possibly damaging |
Het |
Acrbp |
G |
T |
6: 125,031,773 (GRCm39) |
|
probably null |
Het |
Adam21 |
G |
A |
12: 81,605,983 (GRCm39) |
T593I |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,353,698 (GRCm39) |
M161K |
probably benign |
Het |
Agrp |
A |
T |
8: 106,293,821 (GRCm39) |
N48K |
probably benign |
Het |
Asprv1 |
A |
T |
6: 86,605,900 (GRCm39) |
M249L |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,278 (GRCm39) |
Y703H |
probably damaging |
Het |
Bspry |
T |
A |
4: 62,414,226 (GRCm39) |
|
probably benign |
Het |
Cct8l1 |
T |
G |
5: 25,721,836 (GRCm39) |
S184A |
probably benign |
Het |
Cdk13 |
C |
T |
13: 17,947,112 (GRCm39) |
V549I |
probably benign |
Het |
Cdyl2 |
C |
T |
8: 117,306,025 (GRCm39) |
R412Q |
possibly damaging |
Het |
Celf6 |
T |
C |
9: 59,510,808 (GRCm39) |
S205P |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,595,811 (GRCm39) |
A1263V |
possibly damaging |
Het |
Cltc |
C |
A |
11: 86,595,812 (GRCm39) |
A1263S |
possibly damaging |
Het |
Ctnnd2 |
T |
A |
15: 30,480,939 (GRCm39) |
F62L |
probably damaging |
Het |
Dlec1 |
T |
A |
9: 118,972,695 (GRCm39) |
C1473S |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,694,986 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
G |
A |
16: 3,856,896 (GRCm39) |
V176I |
probably benign |
Het |
Dusp1 |
G |
T |
17: 26,726,032 (GRCm39) |
Y220* |
probably null |
Het |
Enpp3 |
A |
C |
10: 24,667,881 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,649,755 (GRCm39) |
L395P |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,677,693 (GRCm39) |
K533R |
probably damaging |
Het |
Gcm2 |
T |
A |
13: 41,258,125 (GRCm39) |
T168S |
possibly damaging |
Het |
Gm9924 |
C |
A |
5: 31,252,491 (GRCm39) |
|
probably benign |
Het |
Ifrd1 |
A |
G |
12: 40,264,092 (GRCm39) |
V101A |
probably benign |
Het |
Iqsec1 |
G |
T |
6: 90,653,859 (GRCm39) |
Q629K |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,576,881 (GRCm39) |
M254L |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,859,733 (GRCm39) |
|
probably benign |
Het |
Letm1 |
T |
C |
5: 33,902,391 (GRCm39) |
K633E |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,503,928 (GRCm39) |
I307V |
probably benign |
Het |
Mtrr |
T |
C |
13: 68,712,476 (GRCm39) |
T637A |
probably benign |
Het |
Naxe |
C |
A |
3: 87,964,305 (GRCm39) |
D212Y |
probably damaging |
Het |
Nlk |
A |
T |
11: 78,477,762 (GRCm39) |
V327D |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,880 (GRCm39) |
K298R |
probably null |
Het |
Or5w11 |
A |
T |
2: 87,459,715 (GRCm39) |
I187F |
probably benign |
Het |
Pdzd8 |
C |
T |
19: 59,289,060 (GRCm39) |
G780D |
probably damaging |
Het |
Prune1 |
T |
C |
3: 95,166,548 (GRCm39) |
|
probably benign |
Het |
Qser1 |
A |
T |
2: 104,618,606 (GRCm39) |
H645Q |
probably damaging |
Het |
Rd3l |
A |
G |
12: 111,945,901 (GRCm39) |
Y193H |
probably benign |
Het |
Reln |
A |
G |
5: 22,114,956 (GRCm39) |
Y3119H |
probably damaging |
Het |
Scel |
C |
T |
14: 103,802,257 (GRCm39) |
A219V |
probably benign |
Het |
Skint11 |
A |
T |
4: 114,101,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Slc5a5 |
C |
A |
8: 71,338,764 (GRCm39) |
D516Y |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,665,928 (GRCm39) |
|
probably null |
Het |
Slc9a3 |
A |
G |
13: 74,311,233 (GRCm39) |
E576G |
possibly damaging |
Het |
Slco1b2 |
A |
T |
6: 141,580,271 (GRCm39) |
|
probably benign |
Het |
Smc5 |
A |
G |
19: 23,209,223 (GRCm39) |
V647A |
probably damaging |
Het |
Snph |
T |
C |
2: 151,436,263 (GRCm39) |
N222D |
possibly damaging |
Het |
Srbd1 |
A |
G |
17: 86,416,659 (GRCm39) |
F500L |
probably benign |
Het |
Stxbp6 |
T |
C |
12: 44,948,806 (GRCm39) |
D101G |
probably damaging |
Het |
Taar7b |
A |
G |
10: 23,875,879 (GRCm39) |
I15V |
probably benign |
Het |
Tdrd12 |
G |
T |
7: 35,200,826 (GRCm39) |
N338K |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,495,988 (GRCm39) |
D128E |
probably benign |
Het |
Ttn |
C |
T |
2: 76,724,627 (GRCm39) |
|
probably benign |
Het |
Uchl1 |
C |
A |
5: 66,834,382 (GRCm39) |
C47* |
probably null |
Het |
Unc79 |
T |
G |
12: 102,977,542 (GRCm39) |
S182A |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 63,989,138 (GRCm39) |
T26A |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,256,947 (GRCm39) |
V685A |
probably damaging |
Het |
Zcchc7 |
T |
G |
4: 44,762,250 (GRCm39) |
V126G |
possibly damaging |
Het |
Zmym2 |
A |
G |
14: 57,180,808 (GRCm39) |
T907A |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |