Incidental Mutation 'IGL01487:Rapgefl1'
ID |
88779 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rapgefl1
|
Ensembl Gene |
ENSMUSG00000038020 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF)-like 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.146)
|
Stock # |
IGL01487
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98727611-98744519 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98737961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 392
(H392Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107479]
|
AlphaFold |
Q68EF8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000037640
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107479
AA Change: H392Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103103 Gene: ENSMUSG00000038020 AA Change: H392Y
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
49 |
N/A |
INTRINSIC |
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
low complexity region
|
70 |
100 |
N/A |
INTRINSIC |
low complexity region
|
108 |
133 |
N/A |
INTRINSIC |
low complexity region
|
169 |
180 |
N/A |
INTRINSIC |
RasGEF
|
420 |
661 |
2.39e-84 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139889
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
G |
6: 88,816,431 (GRCm39) |
V121A |
probably damaging |
Het |
Carf |
A |
G |
1: 60,148,538 (GRCm39) |
H17R |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
Ctsm |
C |
A |
13: 61,686,883 (GRCm39) |
R3L |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,564,753 (GRCm39) |
Q2626* |
probably null |
Het |
Dpp3 |
C |
T |
19: 4,963,920 (GRCm39) |
V587I |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,481,638 (GRCm39) |
T245A |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,461,955 (GRCm39) |
|
probably benign |
Het |
Hoxb9 |
C |
T |
11: 96,165,614 (GRCm39) |
Q228* |
probably null |
Het |
Invs |
A |
G |
4: 48,398,136 (GRCm39) |
I441V |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,149,766 (GRCm39) |
E1243G |
probably benign |
Het |
Ropn1 |
T |
C |
16: 34,498,839 (GRCm39) |
V209A |
probably damaging |
Het |
Scap |
G |
A |
9: 110,206,802 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
G |
9: 119,391,689 (GRCm39) |
M1T |
probably null |
Het |
Serpinb11 |
A |
T |
1: 107,307,568 (GRCm39) |
Y333F |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,544,292 (GRCm39) |
Y783H |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,376,715 (GRCm39) |
M990V |
probably benign |
Het |
Syt3 |
G |
T |
7: 44,040,423 (GRCm39) |
V219F |
possibly damaging |
Het |
Tmtc4 |
A |
G |
14: 123,163,443 (GRCm39) |
L647S |
probably benign |
Het |
|
Other mutations in Rapgefl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03088:Rapgefl1
|
APN |
11 |
98,740,058 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03048:Rapgefl1
|
UTSW |
11 |
98,727,990 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1807:Rapgefl1
|
UTSW |
11 |
98,736,815 (GRCm39) |
critical splice donor site |
probably null |
|
R1862:Rapgefl1
|
UTSW |
11 |
98,733,035 (GRCm39) |
missense |
probably benign |
|
R4078:Rapgefl1
|
UTSW |
11 |
98,740,803 (GRCm39) |
missense |
probably benign |
0.34 |
R4079:Rapgefl1
|
UTSW |
11 |
98,740,803 (GRCm39) |
missense |
probably benign |
0.34 |
R4869:Rapgefl1
|
UTSW |
11 |
98,741,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R5994:Rapgefl1
|
UTSW |
11 |
98,740,986 (GRCm39) |
missense |
probably benign |
0.06 |
R6275:Rapgefl1
|
UTSW |
11 |
98,741,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Rapgefl1
|
UTSW |
11 |
98,737,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Rapgefl1
|
UTSW |
11 |
98,737,900 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7432:Rapgefl1
|
UTSW |
11 |
98,741,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Rapgefl1
|
UTSW |
11 |
98,736,960 (GRCm39) |
missense |
probably benign |
0.12 |
R7761:Rapgefl1
|
UTSW |
11 |
98,728,485 (GRCm39) |
missense |
probably benign |
0.05 |
R7775:Rapgefl1
|
UTSW |
11 |
98,741,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R7824:Rapgefl1
|
UTSW |
11 |
98,741,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R8018:Rapgefl1
|
UTSW |
11 |
98,731,166 (GRCm39) |
critical splice donor site |
probably null |
|
R8099:Rapgefl1
|
UTSW |
11 |
98,738,209 (GRCm39) |
missense |
probably damaging |
0.98 |
R8501:Rapgefl1
|
UTSW |
11 |
98,733,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8941:Rapgefl1
|
UTSW |
11 |
98,731,101 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Rapgefl1
|
UTSW |
11 |
98,736,721 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Rapgefl1
|
UTSW |
11 |
98,736,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-11-18 |