Incidental Mutation 'R5996:Togaram2'
| ID |
481160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram2
|
| Ensembl Gene |
ENSMUSG00000045761 |
| Gene Name |
TOG array regulator of axonemal microtubules 2 |
| Synonyms |
Fam179a, 4632412N22Rik |
| MMRRC Submission |
044175-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5996 (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 72011778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 486
(F486I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097284]
[ENSMUST00000144479]
[ENSMUST00000153445]
|
| AlphaFold |
Q3TYG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097284
AA Change: F486I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: F486I
| 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 damaging
Transcript: ENSMUST00000144479
AA Change: F487I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: F487I
| 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 damaging
Transcript: ENSMUST00000153445
AA Change: F486I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: F486I
| 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 |
0.0723 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
G |
11: 23,468,928 (GRCm39) |
M1T |
probably null |
Het |
| A2m |
T |
A |
6: 121,636,353 (GRCm39) |
W741R |
probably damaging |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Acan |
A |
G |
7: 78,761,068 (GRCm39) |
T1927A |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 110,812,869 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,985,265 (GRCm39) |
F865S |
probably benign |
Het |
| Ccr8 |
T |
A |
9: 119,923,529 (GRCm39) |
C215S |
probably damaging |
Het |
| Cd209b |
T |
C |
8: 3,968,688 (GRCm39) |
T314A |
probably benign |
Het |
| Cd244a |
T |
G |
1: 171,409,208 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,249,356 (GRCm39) |
E849G |
possibly damaging |
Het |
| Cep57 |
A |
G |
9: 13,721,175 (GRCm39) |
V268A |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,163,305 (GRCm39) |
S626P |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,367,152 (GRCm39) |
G477R |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,433,449 (GRCm39) |
D1498G |
unknown |
Het |
| Coro6 |
T |
C |
11: 77,357,322 (GRCm39) |
V177A |
probably benign |
Het |
| Crip3 |
T |
C |
17: 46,742,210 (GRCm39) |
S202P |
possibly damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,197,619 (GRCm39) |
C38R |
probably damaging |
Het |
| Cyp4f13 |
C |
T |
17: 33,148,447 (GRCm39) |
G327R |
possibly damaging |
Het |
| Dab2 |
C |
T |
15: 6,464,792 (GRCm39) |
Q415* |
probably null |
Het |
| Dennd5b |
A |
G |
6: 148,969,593 (GRCm39) |
F287L |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,908,057 (GRCm39) |
R6K |
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,614,033 (GRCm39) |
K429E |
probably damaging |
Het |
| Fam107b |
T |
A |
2: 3,780,667 (GRCm39) |
|
probably null |
Het |
| Flt4 |
A |
T |
11: 49,541,897 (GRCm39) |
D1360V |
probably damaging |
Het |
| Gm1043 |
A |
T |
5: 37,317,168 (GRCm39) |
|
probably benign |
Het |
| Gm4894 |
A |
T |
9: 49,189,970 (GRCm39) |
I82L |
unknown |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gpr176 |
A |
C |
2: 118,114,385 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
T |
C |
15: 85,748,381 (GRCm39) |
L262P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,166,393 (GRCm39) |
W46R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,662,955 (GRCm39) |
Y557C |
probably benign |
Het |
| Kcnab2 |
A |
C |
4: 152,519,287 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
G |
A |
2: 63,014,441 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
T |
A |
1: 171,429,396 (GRCm39) |
Q230L |
probably damaging |
Het |
| Map2 |
C |
A |
1: 66,454,043 (GRCm39) |
H978N |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,388,732 (GRCm39) |
I225V |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,723,995 (GRCm39) |
N326D |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,844,537 (GRCm39) |
F85L |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,274,269 (GRCm39) |
P192L |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,923,704 (GRCm39) |
T97A |
probably benign |
Het |
| Mycbpap |
C |
T |
11: 94,404,420 (GRCm39) |
G121D |
probably benign |
Het |
| Nabp1 |
A |
G |
1: 51,510,544 (GRCm39) |
S153P |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,590,049 (GRCm39) |
F222I |
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,582,969 (GRCm39) |
V310A |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,991 (GRCm39) |
D180V |
probably benign |
Het |
| Pex6 |
C |
A |
17: 47,025,384 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
C |
A |
7: 140,839,015 (GRCm39) |
|
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,485,936 (GRCm39) |
T365A |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,499,672 (GRCm39) |
M519T |
probably benign |
Het |
| Rfx4 |
G |
A |
10: 84,675,881 (GRCm39) |
W32* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,723,666 (GRCm39) |
N4131S |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,745,306 (GRCm39) |
E580G |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,263,385 (GRCm39) |
D719G |
probably benign |
Het |
| Slfn9 |
A |
G |
11: 82,878,310 (GRCm39) |
I273T |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,205,037 (GRCm39) |
E781G |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,471,110 (GRCm39) |
P4686S |
possibly damaging |
Het |
| Stab1 |
G |
T |
14: 30,861,508 (GRCm39) |
R2500S |
probably benign |
Het |
| Stox2 |
A |
T |
8: 47,656,182 (GRCm39) |
M98K |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,213 (GRCm39) |
S633P |
probably damaging |
Het |
| Tex51 |
G |
T |
18: 32,595,545 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,491 (GRCm39) |
|
probably null |
Het |
| Trappc12 |
A |
G |
12: 28,797,113 (GRCm39) |
S140P |
possibly damaging |
Het |
| Ttc29 |
A |
T |
8: 79,003,525 (GRCm39) |
N247I |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,340,589 (GRCm39) |
E668D |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,061,117 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,341,994 (GRCm39) |
L1412I |
possibly damaging |
Het |
| Xrcc5 |
T |
A |
1: 72,349,617 (GRCm39) |
D15E |
probably damaging |
Het |
| Zfp661 |
T |
C |
2: 127,418,968 (GRCm39) |
K391E |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,977 (GRCm39) |
I106T |
probably benign |
Het |
| Zfyve9 |
A |
C |
4: 108,576,557 (GRCm39) |
S175A |
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 |
|
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'- AAGTCAGGTAGAGCTGGCTG -3'
(R):5'- TGAACCTAGATATGTGCATGCATG -3'
Sequencing Primer
(F):5'- GCCAGGCTCTTCAGTGTCTG -3'
(R):5'- TGGCAACAGACCCTAGGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation