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 |
Incidental Mutation