Incidental Mutation 'IGL01547:1700013G24Rik'
ID |
90360 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700013G24Rik
|
Ensembl Gene |
ENSMUSG00000041399 |
Gene Name |
RIKEN cDNA 1700013G24 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL01547
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
137180607-137182772 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137182573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 243
(G243R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048893]
|
AlphaFold |
Q9DAC6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048893
AA Change: G243R
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043461 Gene: ENSMUSG00000041399 AA Change: G243R
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
65 |
N/A |
INTRINSIC |
low complexity region
|
181 |
203 |
N/A |
INTRINSIC |
SCOP:d1i50b_
|
216 |
261 |
3e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l1 |
T |
C |
8: 124,228,090 (GRCm39) |
V625A |
probably benign |
Het |
Arhgap39 |
T |
C |
15: 76,622,015 (GRCm39) |
|
probably benign |
Het |
Bag1 |
A |
G |
4: 40,936,661 (GRCm39) |
C332R |
probably damaging |
Het |
Bcas2 |
T |
C |
3: 103,079,315 (GRCm39) |
Y49H |
probably damaging |
Het |
Cacna1b |
C |
A |
2: 24,522,047 (GRCm39) |
|
probably benign |
Het |
Cdyl |
A |
G |
13: 35,974,145 (GRCm39) |
D53G |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,747,013 (GRCm39) |
I1322V |
probably benign |
Het |
Evc2 |
C |
A |
5: 37,550,431 (GRCm39) |
A815E |
probably benign |
Het |
Gm6309 |
C |
T |
5: 146,105,221 (GRCm39) |
D231N |
probably benign |
Het |
Mtfr2 |
C |
T |
10: 20,233,345 (GRCm39) |
P305S |
probably damaging |
Het |
Or14c44 |
A |
G |
7: 86,062,079 (GRCm39) |
N170D |
possibly damaging |
Het |
Or51k1 |
A |
T |
7: 103,661,867 (GRCm39) |
I14N |
probably benign |
Het |
Or7d10 |
A |
T |
9: 19,832,197 (GRCm39) |
I231F |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,400,395 (GRCm39) |
H782R |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,635,768 (GRCm39) |
S480P |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,316,310 (GRCm39) |
T1085A |
probably benign |
Het |
Sema6c |
C |
T |
3: 95,079,709 (GRCm39) |
R668C |
probably damaging |
Het |
Tas2r123 |
C |
T |
6: 132,824,421 (GRCm39) |
T106I |
probably damaging |
Het |
Tgm5 |
A |
G |
2: 120,879,683 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,681,383 (GRCm39) |
I97N |
possibly damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,445,525 (GRCm39) |
K644N |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,027,521 (GRCm39) |
|
probably null |
Het |
|
Other mutations in 1700013G24Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02646:1700013G24Rik
|
APN |
4 |
137,182,101 (GRCm39) |
nonsense |
probably null |
|
R0526:1700013G24Rik
|
UTSW |
4 |
137,182,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1449:1700013G24Rik
|
UTSW |
4 |
137,182,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3743:1700013G24Rik
|
UTSW |
4 |
137,182,348 (GRCm39) |
missense |
probably damaging |
0.96 |
R5357:1700013G24Rik
|
UTSW |
4 |
137,182,463 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6265:1700013G24Rik
|
UTSW |
4 |
137,181,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R6586:1700013G24Rik
|
UTSW |
4 |
137,182,639 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6720:1700013G24Rik
|
UTSW |
4 |
137,181,997 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6988:1700013G24Rik
|
UTSW |
4 |
137,181,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:1700013G24Rik
|
UTSW |
4 |
137,181,905 (GRCm39) |
missense |
probably damaging |
0.99 |
R7825:1700013G24Rik
|
UTSW |
4 |
137,182,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R8905:1700013G24Rik
|
UTSW |
4 |
137,182,553 (GRCm39) |
missense |
probably benign |
|
R9536:1700013G24Rik
|
UTSW |
4 |
137,182,623 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:1700013G24Rik
|
UTSW |
4 |
137,182,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |