Incidental Mutation 'IGL01292:Rasgef1a'
| ID |
72949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rasgef1a
|
| Ensembl Gene |
ENSMUSG00000030134 |
| Gene Name |
RasGEF domain family, member 1A |
| Synonyms |
6330404M18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
117988466-118068507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118057344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 15
(V15D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164960]
[ENSMUST00000203482]
[ENSMUST00000203804]
|
| AlphaFold |
A0A0N4SVR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164960
AA Change: V7D
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132244
Gene: ENSMUSG00000030134
AA Change: V7D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
RasGEFN
|
49 |
178 |
1.69e-3 |
SMART |
|
RasGEF
|
218 |
470 |
7.23e-52 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184597
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203482
AA Change: V15D
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145077
Gene: ENSMUSG00000030134
AA Change: V15D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
RasGEFN
|
49 |
178 |
1.69e-3 |
SMART |
|
RasGEF
|
218 |
470 |
7.23e-52 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203804
AA Change: V15D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145214
Gene: ENSMUSG00000030134
AA Change: V15D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
RasGEFN
|
49 |
177 |
1.3e-5 |
SMART |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
RasGEF
|
227 |
479 |
4.5e-54 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,831 (GRCm39) |
S1045G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,926,520 (GRCm39) |
|
probably benign |
Het |
| Car15 |
A |
G |
16: 17,653,393 (GRCm39) |
F258S |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,737,071 (GRCm39) |
I241T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,410,098 (GRCm39) |
D1758G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,353,082 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,120,988 (GRCm39) |
N75I |
possibly damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,919 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,664,161 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,533 (GRCm39) |
E304K |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,618,696 (GRCm39) |
V234A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,141,387 (GRCm39) |
I334N |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,638,175 (GRCm39) |
A967D |
probably damaging |
Het |
| Mtrf1l |
A |
T |
10: 5,764,090 (GRCm39) |
M291K |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,778,470 (GRCm39) |
|
noncoding transcript |
Het |
| Myl3 |
A |
T |
9: 110,597,045 (GRCm39) |
D135V |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,446,805 (GRCm39) |
L537M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,232,403 (GRCm39) |
D324G |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,640,229 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
A |
T |
5: 116,162,169 (GRCm39) |
F47Y |
probably damaging |
Het |
| Prkag2 |
C |
T |
5: 25,226,963 (GRCm39) |
S98N |
probably benign |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,051 (GRCm39) |
C67* |
probably null |
Het |
| Slc25a15 |
T |
C |
8: 22,880,052 (GRCm39) |
D31G |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,752 (GRCm39) |
|
probably null |
Het |
| Snx15 |
A |
T |
19: 6,169,915 (GRCm39) |
M331K |
probably benign |
Het |
| Tsks |
T |
C |
7: 44,601,982 (GRCm39) |
Y224H |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,639,864 (GRCm39) |
S123P |
probably damaging |
Het |
| Xpnpep3 |
T |
G |
15: 81,311,699 (GRCm39) |
V135G |
probably damaging |
Het |
|
| Other mutations in Rasgef1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00808:Rasgef1a
|
APN |
6 |
118,065,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01457:Rasgef1a
|
APN |
6 |
118,061,506 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02045:Rasgef1a
|
APN |
6 |
118,066,404 (GRCm39) |
missense |
probably benign |
|
|
IGL02502:Rasgef1a
|
APN |
6 |
118,057,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02902:Rasgef1a
|
APN |
6 |
118,060,068 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03224:Rasgef1a
|
APN |
6 |
118,066,767 (GRCm39) |
splice site |
probably benign |
|
|
R2001:Rasgef1a
|
UTSW |
6 |
118,066,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4477:Rasgef1a
|
UTSW |
6 |
118,062,436 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4863:Rasgef1a
|
UTSW |
6 |
118,066,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5422:Rasgef1a
|
UTSW |
6 |
118,065,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Rasgef1a
|
UTSW |
6 |
118,057,405 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5911:Rasgef1a
|
UTSW |
6 |
118,061,335 (GRCm39) |
splice site |
probably null |
|
|
R5914:Rasgef1a
|
UTSW |
6 |
118,057,515 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6788:Rasgef1a
|
UTSW |
6 |
118,064,174 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8680:Rasgef1a
|
UTSW |
6 |
118,064,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Rasgef1a
|
UTSW |
6 |
118,066,110 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9273:Rasgef1a
|
UTSW |
6 |
118,063,223 (GRCm39) |
missense |
probably benign |
|
|
R9509:Rasgef1a
|
UTSW |
6 |
118,061,391 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation