Incidental Mutation 'R0219:Togaram2'
ID |
33753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Togaram2
|
Ensembl Gene |
ENSMUSG00000045761 |
Gene Name |
TOG array regulator of axonemal microtubules 2 |
Synonyms |
Fam179a, 4632412N22Rik |
MMRRC Submission |
038468-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0219 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 72021225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097284]
[ENSMUST00000144479]
[ENSMUST00000153445]
|
AlphaFold |
Q3TYG6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097284
|
SMART Domains |
Protein: ENSMUSP00000094886 Gene: ENSMUSG00000045761
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
|
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 |
probably benign
Transcript: ENSMUST00000153445
|
SMART Domains |
Protein: ENSMUSP00000122691 Gene: ENSMUSG00000045761
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.3%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,849,885 (GRCm39) |
|
probably benign |
Het |
Acacb |
T |
A |
5: 114,371,005 (GRCm39) |
M1749K |
possibly damaging |
Het |
Aff1 |
GCTCTCTCTC |
GCTCTCTCTCTC |
5: 103,958,906 (GRCm39) |
|
probably benign |
Het |
Ankle2 |
C |
T |
5: 110,399,511 (GRCm39) |
R624* |
probably null |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,446,640 (GRCm39) |
|
probably benign |
Het |
Ccdc116 |
T |
A |
16: 16,959,476 (GRCm39) |
R404S |
possibly damaging |
Het |
Ccdc171 |
A |
G |
4: 83,614,678 (GRCm39) |
|
probably benign |
Het |
Ccdc80 |
A |
G |
16: 44,916,846 (GRCm39) |
K534R |
probably damaging |
Het |
Ccna1 |
T |
C |
3: 54,958,348 (GRCm39) |
I112V |
probably benign |
Het |
Cdhr1 |
A |
C |
14: 36,801,558 (GRCm39) |
L795R |
possibly damaging |
Het |
Cilp |
C |
A |
9: 65,176,872 (GRCm39) |
L43I |
possibly damaging |
Het |
Dclk2 |
T |
C |
3: 86,720,976 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
C |
A |
1: 136,360,047 (GRCm39) |
|
probably benign |
Het |
Dgkd |
T |
C |
1: 87,865,996 (GRCm39) |
|
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,658,384 (GRCm39) |
|
probably null |
Het |
Dst |
T |
G |
1: 34,342,559 (GRCm39) |
S5030A |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,106,443 (GRCm39) |
|
probably benign |
Het |
Farp1 |
C |
A |
14: 121,481,012 (GRCm39) |
P471Q |
possibly damaging |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Fcer1g |
A |
G |
1: 171,058,795 (GRCm39) |
V31A |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,717,618 (GRCm39) |
V21A |
probably benign |
Het |
Gm9912 |
T |
C |
3: 148,891,131 (GRCm39) |
I1V |
unknown |
Het |
Guf1 |
G |
A |
5: 69,716,929 (GRCm39) |
A164T |
probably damaging |
Het |
Hbb-bs |
T |
C |
7: 103,475,876 (GRCm39) |
H147R |
possibly damaging |
Het |
Hnrnpr |
T |
A |
4: 136,066,474 (GRCm39) |
|
probably benign |
Het |
Iglon5 |
A |
T |
7: 43,126,261 (GRCm39) |
V214E |
probably damaging |
Het |
Isx |
C |
A |
8: 75,616,589 (GRCm39) |
|
probably null |
Het |
Kank4 |
T |
C |
4: 98,666,702 (GRCm39) |
N582D |
probably benign |
Het |
Kcp |
T |
A |
6: 29,495,784 (GRCm39) |
R773W |
probably damaging |
Het |
Kdm4c |
T |
C |
4: 74,291,857 (GRCm39) |
C825R |
probably damaging |
Het |
Krt25 |
G |
A |
11: 99,208,885 (GRCm39) |
T315M |
probably benign |
Het |
Lrp5 |
A |
T |
19: 3,647,349 (GRCm39) |
S1298T |
probably damaging |
Het |
Map3k10 |
T |
C |
7: 27,356,156 (GRCm39) |
D921G |
probably damaging |
Het |
Mrgprx1 |
C |
A |
7: 47,671,294 (GRCm39) |
W151L |
probably damaging |
Het |
Mylk3 |
T |
A |
8: 86,081,873 (GRCm39) |
D375V |
probably damaging |
Het |
Nav3 |
C |
T |
10: 109,702,791 (GRCm39) |
|
probably null |
Het |
Ncan |
A |
G |
8: 70,567,984 (GRCm39) |
S43P |
probably benign |
Het |
Necab3 |
G |
T |
2: 154,388,013 (GRCm39) |
Q292K |
probably benign |
Het |
Nptx2 |
T |
C |
5: 144,484,950 (GRCm39) |
S148P |
probably damaging |
Het |
Or2at4 |
A |
T |
7: 99,385,135 (GRCm39) |
I262L |
probably benign |
Het |
Or6p1 |
G |
A |
1: 174,258,032 (GRCm39) |
V13I |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,419,006 (GRCm39) |
E794G |
possibly damaging |
Het |
Pus7 |
T |
C |
5: 23,980,964 (GRCm39) |
Y133C |
possibly damaging |
Het |
Rad21l |
A |
G |
2: 151,496,508 (GRCm39) |
|
probably benign |
Het |
Rptor |
A |
T |
11: 119,712,603 (GRCm39) |
|
probably benign |
Het |
Sart1 |
C |
A |
19: 5,438,424 (GRCm39) |
A78S |
probably benign |
Het |
Shkbp1 |
T |
C |
7: 27,051,486 (GRCm39) |
E191G |
probably benign |
Het |
Slc6a18 |
A |
T |
13: 73,822,751 (GRCm39) |
|
probably null |
Het |
Stxbp5 |
T |
C |
10: 9,646,272 (GRCm39) |
T147A |
probably benign |
Het |
Sv2b |
A |
G |
7: 74,807,015 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
T |
12: 76,088,778 (GRCm39) |
K5045N |
probably damaging |
Het |
Tmem174 |
A |
C |
13: 98,773,347 (GRCm39) |
M161R |
possibly damaging |
Het |
Tmprss7 |
A |
G |
16: 45,476,820 (GRCm39) |
V814A |
probably damaging |
Het |
Tpr |
T |
C |
1: 150,319,009 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,730,572 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,157,568 (GRCm39) |
L2375Q |
possibly damaging |
Het |
Utp20 |
T |
C |
10: 88,600,537 (GRCm39) |
E1987G |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,560,195 (GRCm39) |
T1365A |
probably damaging |
Het |
Vmn2r116 |
T |
A |
17: 23,605,072 (GRCm39) |
Y128* |
probably null |
Het |
Vmn2r5 |
A |
G |
3: 64,411,734 (GRCm39) |
V278A |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,832,479 (GRCm39) |
S2809N |
probably benign |
Het |
Zfp212 |
G |
A |
6: 47,903,619 (GRCm39) |
R68H |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,253,160 (GRCm39) |
L33Q |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,211,255 (GRCm39) |
S185G |
probably damaging |
Het |
Zfp738 |
A |
G |
13: 67,831,508 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAACAAGTTGCCCGTGAATTCTG -3'
(R):5'- ACTCATTCCCCTGACCTACAAGAGG -3'
Sequencing Primer
(F):5'- gtgatttcctcttggtaatggc -3'
(R):5'- CTGACCTACAAGAGGGCCAAG -3'
|
Posted On |
2013-05-09 |