Incidental Mutation 'IGL01625:Togaram2'
| ID |
92731 |
| 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: 0.071)
|
| Stock # |
IGL01625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72021693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 718
(E718D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097284]
[ENSMUST00000144479]
[ENSMUST00000153445]
|
| AlphaFold |
Q3TYG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097284
AA Change: E718D
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: E718D
| 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: ENSMUST00000129072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144479
AA Change: E719D
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: E719D
| 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: E718D
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: E718D
| 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: ENSMUST00000161407
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
| Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,196,319 (GRCm39) |
L148P |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
| Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
| Iba57 |
G |
A |
11: 59,049,775 (GRCm39) |
R191W |
probably damaging |
Het |
| Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,166,337 (GRCm39) |
K218E |
possibly damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
| Rbpjl |
A |
G |
2: 164,249,705 (GRCm39) |
K102R |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,121,359 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,853 (GRCm39) |
D274E |
possibly damaging |
Het |
| Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
| Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
| Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
| Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
| Tm6sf2 |
G |
T |
8: 70,528,733 (GRCm39) |
G162C |
probably null |
Het |
| Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
| Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
| Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,223,781 (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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation