Incidental Mutation 'R9305:Togaram2'
| ID |
705194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Togaram2
|
| Ensembl Gene |
ENSMUSG00000045761 |
| Gene Name |
TOG array regulator of axonemal microtubules 2 |
| Synonyms |
Fam179a, 4632412N22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71980256-72036664 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71996408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 137
(E137G)
|
| 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: E136G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: E136G
| 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: E137G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: E137G
| 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: E136G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: E136G
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,989 (GRCm39) |
I1227V |
probably benign |
Het |
| Abhd8 |
A |
G |
8: 71,911,148 (GRCm39) |
V261A |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,416 (GRCm39) |
C410S |
probably damaging |
Het |
| Adamts17 |
T |
C |
7: 66,489,645 (GRCm39) |
L21P |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,275 (GRCm39) |
N492D |
probably benign |
Het |
| Aldh1b1 |
G |
A |
4: 45,803,811 (GRCm39) |
V450M |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,058,053 (GRCm39) |
I2178M |
probably benign |
Het |
| Atp9a |
A |
T |
2: 168,517,163 (GRCm39) |
I390N |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,098,969 (GRCm39) |
I1277V |
|
Het |
| Cacng2 |
T |
G |
15: 77,897,542 (GRCm39) |
Y89S |
possibly damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,665 (GRCm39) |
|
probably null |
Het |
| Casq2 |
A |
G |
3: 102,052,700 (GRCm39) |
D404G |
unknown |
Het |
| Cdh9 |
T |
A |
15: 16,832,138 (GRCm39) |
Y342N |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,392,271 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Chmp4c |
T |
G |
3: 10,454,974 (GRCm39) |
S214A |
probably benign |
Het |
| Clstn2 |
T |
A |
9: 97,343,537 (GRCm39) |
I637F |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 16,011,532 (GRCm39) |
T2507K |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,705,012 (GRCm39) |
S427F |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,948,959 (GRCm39) |
W405R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,355,388 (GRCm39) |
V451A |
possibly damaging |
Het |
| Fads2b |
A |
T |
2: 85,330,649 (GRCm39) |
C219* |
probably null |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Foxa3 |
A |
G |
7: 18,748,961 (GRCm39) |
L55P |
possibly damaging |
Het |
| Gng2 |
G |
T |
14: 19,925,961 (GRCm39) |
H44N |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,438,619 (GRCm39) |
T38I |
possibly damaging |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,505,988 (GRCm39) |
Y78* |
probably null |
Het |
| Krt32 |
T |
C |
11: 99,972,029 (GRCm39) |
T440A |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,569,768 (GRCm39) |
F350Y |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,574 (GRCm39) |
S281T |
|
Het |
| Lrrc43 |
C |
T |
5: 123,646,219 (GRCm39) |
A657V |
unknown |
Het |
| Mief2 |
C |
A |
11: 60,622,042 (GRCm39) |
P204Q |
possibly damaging |
Het |
| Morc3 |
G |
T |
16: 93,667,302 (GRCm39) |
R560L |
probably benign |
Het |
| Or2y3 |
A |
T |
17: 38,393,629 (GRCm39) |
V80D |
probably damaging |
Het |
| Or8c20 |
A |
C |
9: 38,260,381 (GRCm39) |
M1L |
probably benign |
Het |
| Orc3 |
G |
A |
4: 34,607,181 (GRCm39) |
R50* |
probably null |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Parp4 |
TG |
T |
14: 56,832,790 (GRCm39) |
|
probably null |
Het |
| Parp4 |
T |
C |
14: 56,852,224 (GRCm39) |
|
probably null |
Het |
| Pcdhb18 |
A |
C |
18: 37,625,004 (GRCm39) |
H778P |
probably benign |
Het |
| Polg |
A |
T |
7: 79,105,860 (GRCm39) |
Y710N |
probably benign |
Het |
| Ppp2r2b |
C |
A |
18: 42,779,025 (GRCm39) |
R370L |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,097,625 (GRCm39) |
D1043G |
probably benign |
Het |
| Rpl6 |
T |
C |
5: 121,346,516 (GRCm39) |
S206P |
possibly damaging |
Het |
| Serpina3i |
T |
C |
12: 104,234,881 (GRCm39) |
V404A |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,769 (GRCm39) |
|
probably null |
Het |
| Stx11 |
A |
T |
10: 12,817,564 (GRCm39) |
D53E |
probably benign |
Het |
| Thoc3 |
C |
T |
13: 54,607,998 (GRCm39) |
W315* |
probably null |
Het |
| Tmem26 |
G |
A |
10: 68,559,816 (GRCm39) |
W29* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,151,023 (GRCm39) |
L524S |
probably damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,345 (GRCm39) |
N675S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,268,439 (GRCm39) |
L10P |
possibly damaging |
Het |
| Zbtb1 |
G |
A |
12: 76,432,773 (GRCm39) |
R253Q |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,255,771 (GRCm39) |
D1474G |
probably benign |
Het |
| Zfp873 |
T |
C |
10: 81,896,514 (GRCm39) |
F415S |
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 |
|
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 |
|
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'- AATGCTCCTCTGAAAGGCTG -3'
(R):5'- TTGACACCCCTAAGCTAGCC -3'
Sequencing Primer
(F):5'- TCCTCTGAAAGGCTGGCAGG -3'
(R):5'- GCTAGATTTCATCCTCAATGCTAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation