Incidental Mutation 'R7824:Togaram2'
| ID |
602105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram2
|
| Ensembl Gene |
ENSMUSG00000045761 |
| Gene Name |
TOG array regulator of axonemal microtubules 2 |
| Synonyms |
Fam179a, 4632412N22Rik |
| MMRRC Submission |
045878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R7824 (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 A
at 72011746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 476
(M476K)
|
| 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: M475K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: M475K
| 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: M476K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: M476K
| 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: M475K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: M475K
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7a |
T |
C |
15: 77,273,275 (GRCm39) |
R396G |
probably damaging |
Het |
| Arhgap40 |
A |
T |
2: 158,376,666 (GRCm39) |
R267S |
probably damaging |
Het |
| Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
| Atp6v0a2 |
A |
G |
5: 124,779,443 (GRCm39) |
E186G |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
| Bub1b |
T |
G |
2: 118,457,448 (GRCm39) |
|
probably null |
Het |
| Capn7 |
A |
G |
14: 31,074,367 (GRCm39) |
T257A |
probably benign |
Het |
| Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
| Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,437,543 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,445,936 (GRCm39) |
N148D |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,963,692 (GRCm39) |
L275F |
unknown |
Het |
| Gfpt2 |
T |
G |
11: 49,715,268 (GRCm39) |
I421R |
probably damaging |
Het |
| Gm8297 |
A |
G |
14: 16,167,939 (GRCm39) |
N193S |
possibly damaging |
Het |
| Hic1 |
C |
T |
11: 75,057,042 (GRCm39) |
V616M |
possibly damaging |
Het |
| Ica1l |
T |
G |
1: 60,047,029 (GRCm39) |
M241L |
probably benign |
Het |
| Ighg3 |
A |
T |
12: 113,323,426 (GRCm39) |
D283E |
|
Het |
| Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
| Ism2 |
A |
C |
12: 87,326,634 (GRCm39) |
V435G |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,354,002 (GRCm39) |
H271R |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,111,468 (GRCm39) |
S2240T |
|
Het |
| Lrp2 |
T |
A |
2: 69,331,883 (GRCm39) |
E1624V |
possibly damaging |
Het |
| Map3k21 |
C |
G |
8: 126,637,702 (GRCm39) |
P96R |
probably benign |
Het |
| Mfge8 |
G |
T |
7: 78,795,135 (GRCm39) |
|
probably null |
Het |
| Mical2 |
T |
A |
7: 112,006,844 (GRCm39) |
Y588N |
probably damaging |
Het |
| Mrps15 |
A |
T |
4: 125,945,170 (GRCm39) |
N119I |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,154,284 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Odf4 |
A |
T |
11: 68,812,898 (GRCm39) |
S253R |
probably benign |
Het |
| Or6c5c |
A |
G |
10: 129,298,665 (GRCm39) |
N40S |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,388,295 (GRCm39) |
|
probably null |
Het |
| Pax8 |
A |
G |
2: 24,325,913 (GRCm39) |
S324P |
possibly damaging |
Het |
| Plau |
A |
G |
14: 20,892,393 (GRCm39) |
S393G |
probably benign |
Het |
| Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
| Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,741,980 (GRCm39) |
N648S |
probably damaging |
Het |
| Rin2 |
T |
A |
2: 145,703,037 (GRCm39) |
S533T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,865,375 (GRCm39) |
S671P |
probably damaging |
Het |
| Slc22a3 |
G |
T |
17: 12,683,350 (GRCm39) |
A171E |
probably damaging |
Het |
| Son |
T |
C |
16: 91,453,416 (GRCm39) |
L721S |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,865,047 (GRCm39) |
R732W |
possibly damaging |
Het |
| Speg |
T |
A |
1: 75,360,661 (GRCm39) |
|
probably null |
Het |
| Srd5a3 |
T |
A |
5: 76,302,618 (GRCm39) |
F328I |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,637,746 (GRCm39) |
|
probably null |
Het |
| Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
| Thoc3 |
A |
C |
13: 54,611,591 (GRCm39) |
F232C |
probably damaging |
Het |
| Tpgs2 |
G |
T |
18: 25,262,922 (GRCm39) |
F232L |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Tube1 |
A |
G |
10: 39,018,294 (GRCm39) |
I124V |
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,991,566 (GRCm39) |
H1992Q |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,362,354 (GRCm39) |
R2660C |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,836,773 (GRCm39) |
T2924A |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,942 (GRCm39) |
Y79C |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,635,778 (GRCm39) |
K270E |
|
Het |
| Zfp874b |
A |
G |
13: 67,622,093 (GRCm39) |
F402L |
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 |
|
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'- AAGTCAGGTAGAGCTGGCTG -3'
(R):5'- CAGGACATCTTCTGTAGCCC -3'
Sequencing Primer
(F):5'- GCCAGGCTCTTCAGTGTCTG -3'
(R):5'- TGTAGCCCTCCTAAATATCACCC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation