Incidental Mutation 'R6956:Togaram2'
ID |
541481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram2
|
Ensembl Gene |
ENSMUSG00000045761 |
Gene Name |
TOG array regulator of axonemal microtubules 2 |
Synonyms |
Fam179a, 4632412N22Rik |
MMRRC Submission |
045067-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R6956 (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 72036183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 891
(V891A)
|
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: V891A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000094886 Gene: ENSMUSG00000045761 AA Change: V891A
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: V911A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000114359 Gene: ENSMUSG00000045761 AA Change: V911A
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: V891A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000122691 Gene: ENSMUSG00000045761 AA Change: V891A
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 |
0.1187 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
G |
A |
8: 111,781,762 (GRCm39) |
V945M |
probably benign |
Het |
Amotl2 |
A |
G |
9: 102,601,967 (GRCm39) |
T371A |
probably damaging |
Het |
Bmpr1a |
A |
G |
14: 34,163,132 (GRCm39) |
I86T |
possibly damaging |
Het |
C9 |
A |
T |
15: 6,474,945 (GRCm39) |
M35L |
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,862,528 (GRCm39) |
P661T |
probably damaging |
Het |
Ccdc202 |
T |
A |
14: 96,119,869 (GRCm39) |
W209R |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,303,349 (GRCm39) |
S293R |
probably benign |
Het |
Dchs2 |
T |
A |
3: 83,261,233 (GRCm39) |
N2500K |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,697,282 (GRCm39) |
S92P |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,616,446 (GRCm39) |
I1172F |
probably benign |
Het |
Dnajc6 |
A |
G |
4: 101,471,470 (GRCm39) |
S364G |
probably damaging |
Het |
Dpp6 |
A |
T |
5: 27,803,819 (GRCm39) |
N255I |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,252,748 (GRCm39) |
I440T |
probably damaging |
Het |
Fam184b |
T |
C |
5: 45,688,099 (GRCm39) |
T937A |
probably damaging |
Het |
Fam229b |
T |
A |
10: 39,009,843 (GRCm39) |
|
probably null |
Het |
Gbp11 |
A |
G |
5: 105,476,241 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
H2-T3 |
T |
A |
17: 36,500,263 (GRCm39) |
Y144F |
probably damaging |
Het |
Kel |
T |
G |
6: 41,664,907 (GRCm39) |
D7A |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,994,668 (GRCm39) |
V166A |
probably benign |
Het |
Mapt |
T |
C |
11: 104,209,081 (GRCm39) |
|
probably null |
Het |
Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
Mboat1 |
T |
C |
13: 30,422,059 (GRCm39) |
V396A |
possibly damaging |
Het |
Mphosph9 |
T |
C |
5: 124,435,621 (GRCm39) |
D604G |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,556,322 (GRCm39) |
T3324A |
unknown |
Het |
Nalf1 |
T |
A |
8: 9,820,744 (GRCm39) |
Q92L |
probably benign |
Het |
Nat10 |
T |
C |
2: 103,564,757 (GRCm39) |
I495V |
probably benign |
Het |
Or6c208 |
A |
T |
10: 129,224,166 (GRCm39) |
K221N |
probably benign |
Het |
Pfkfb2 |
T |
C |
1: 130,635,337 (GRCm39) |
N75D |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Rpgrip1l |
A |
C |
8: 92,012,941 (GRCm39) |
|
probably null |
Het |
Scube1 |
T |
C |
15: 83,606,077 (GRCm39) |
Y65C |
probably damaging |
Het |
Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
Socs7 |
T |
C |
11: 97,267,849 (GRCm39) |
S327P |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,685,021 (GRCm39) |
D591E |
probably damaging |
Het |
Sult2a6 |
T |
A |
7: 13,988,748 (GRCm39) |
D4V |
possibly damaging |
Het |
Tdpoz8 |
T |
C |
3: 92,981,279 (GRCm39) |
V25A |
possibly damaging |
Het |
Tdrd9 |
A |
G |
12: 112,002,788 (GRCm39) |
|
probably benign |
Het |
Tgm4 |
G |
T |
9: 122,893,768 (GRCm39) |
M155I |
possibly damaging |
Het |
Usp1 |
A |
G |
4: 98,819,243 (GRCm39) |
E235G |
probably damaging |
Het |
Usp2 |
T |
A |
9: 44,004,053 (GRCm39) |
V533E |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,837,550 (GRCm39) |
I2665F |
probably damaging |
Het |
Vmn2r31 |
G |
A |
7: 7,397,505 (GRCm39) |
S251L |
probably benign |
Het |
Vmn2r84 |
C |
A |
10: 130,225,136 (GRCm39) |
C458F |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGACCTACCTCATTTGCATTG -3'
(R):5'- AGGCTAAAAGTCCCTGCAGC -3'
Sequencing Primer
(F):5'- GCAGACCAATATTTCTCTTCAGATG -3'
(R):5'- TGACTGGCAGCGAAGTCCTG -3'
|
Posted On |
2018-11-28 |