Incidental Mutation 'R6968:Togaram2'
| ID |
542142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram2
|
| Ensembl Gene |
ENSMUSG00000045761 |
| Gene Name |
TOG array regulator of axonemal microtubules 2 |
| Synonyms |
Fam179a, 4632412N22Rik |
| MMRRC Submission |
045078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72016608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 655
(D655G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097284]
[ENSMUST00000144479]
[ENSMUST00000153445]
|
| AlphaFold |
Q3TYG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097284
AA Change: D654G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: D654G
| 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: D655G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: D655G
| 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: D654G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: D654G
| 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: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
T |
2: 102,919,798 (GRCm39) |
L125F |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,276 (GRCm39) |
V1009A |
probably benign |
Het |
| Asah2 |
A |
T |
19: 31,989,913 (GRCm39) |
I489K |
probably benign |
Het |
| Bace1 |
A |
G |
9: 45,766,263 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,549,840 (GRCm39) |
T348A |
possibly damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,922 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
A |
C |
19: 15,959,102 (GRCm39) |
F111V |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,085,281 (GRCm39) |
L784Q |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,683 (GRCm39) |
C398Y |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,275,130 (GRCm39) |
P46L |
probably damaging |
Het |
| Cyp2w1 |
A |
G |
5: 139,339,746 (GRCm39) |
Q112R |
probably damaging |
Het |
| Entpd3 |
A |
T |
9: 120,389,722 (GRCm39) |
E336V |
probably benign |
Het |
| Fbxw28 |
A |
C |
9: 109,159,856 (GRCm39) |
S197A |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,151,308 (GRCm39) |
F118L |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
C |
9: 44,209,282 (GRCm39) |
S306A |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,262,467 (GRCm39) |
V1663E |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,571,086 (GRCm39) |
I125T |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,877,878 (GRCm39) |
E592K |
probably benign |
Het |
| Krt23 |
T |
A |
11: 99,371,900 (GRCm39) |
E317V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,835,857 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,934,586 (GRCm39) |
N152K |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,376,476 (GRCm39) |
|
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,860 (GRCm39) |
T584A |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,957,852 (GRCm39) |
E335G |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,783,433 (GRCm39) |
N925K |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 56,998,758 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,329,499 (GRCm39) |
I239V |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,779,409 (GRCm39) |
D562G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,273,155 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
A |
G |
11: 73,690,205 (GRCm39) |
I126T |
possibly damaging |
Het |
| Ormdl3 |
T |
A |
11: 98,474,941 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,333,977 (GRCm39) |
V97D |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,658 (GRCm39) |
F847L |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,799,612 (GRCm39) |
V722F |
possibly damaging |
Het |
| Rhoh |
A |
G |
5: 66,049,862 (GRCm39) |
D44G |
possibly damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,147 (GRCm39) |
R228C |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Saxo2 |
T |
C |
7: 82,292,969 (GRCm39) |
T43A |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,648 (GRCm39) |
|
probably null |
Het |
| Snap25 |
T |
C |
2: 136,611,690 (GRCm39) |
M64T |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,597,426 (GRCm39) |
N1410S |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,774 (GRCm39) |
I231T |
probably damaging |
Het |
| Stam |
A |
T |
2: 14,120,829 (GRCm39) |
H78L |
probably damaging |
Het |
| Suox |
C |
T |
10: 128,507,702 (GRCm39) |
V109I |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,067,041 (GRCm39) |
R7075G |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,550,217 (GRCm39) |
R482Q |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,781,650 (GRCm39) |
V1440A |
probably benign |
Het |
| Trgv2 |
A |
T |
13: 19,520,896 (GRCm39) |
I66K |
probably damaging |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,876 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,866 (GRCm39) |
H206L |
probably benign |
Het |
| Zan |
T |
A |
5: 137,460,075 (GRCm39) |
Y1272F |
unknown |
Het |
| Zfp39 |
T |
C |
11: 58,782,306 (GRCm39) |
H152R |
probably benign |
Het |
| Zfp41 |
T |
A |
15: 75,490,310 (GRCm39) |
Y87* |
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,910,654 (GRCm39) |
L314H |
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 |
|
R6956:Togaram2
|
UTSW |
17 |
72,036,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ACGTGTGTCTACAGTCTGCAG -3'
(R):5'- TGGACCCAAGAGCACTATTG -3'
Sequencing Primer
(F):5'- TGTCTACAGTCTGCAGTTACAG -3'
(R):5'- ACAGGCTGGCCATGACACTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation