Incidental Mutation 'IGL00808:Rasgef1a'
| ID |
13761 |
| 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 # |
IGL00808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
117988466-118068507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118065164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 384
(K384M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164960]
[ENSMUST00000203482]
[ENSMUST00000203804]
|
| AlphaFold |
A0A0N4SVR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164960
AA Change: K376M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132244
Gene: ENSMUSG00000030134
AA Change: K376M
| 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 |
probably damaging
Transcript: ENSMUST00000203482
AA Change: K384M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145077
Gene: ENSMUSG00000030134
AA Change: K384M
| 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 |
possibly damaging
Transcript: ENSMUST00000203804
AA Change: K393M
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145214
Gene: ENSMUSG00000030134
AA Change: K393M
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
A |
G |
7: 28,314,377 (GRCm39) |
I297T |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,609,908 (GRCm39) |
E131G |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,290,960 (GRCm39) |
L1491S |
probably benign |
Het |
| Arid4b |
T |
C |
13: 14,310,846 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
A |
1: 139,389,214 (GRCm39) |
S626T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,897,571 (GRCm39) |
S238P |
probably damaging |
Het |
| Clns1a |
A |
G |
7: 97,365,721 (GRCm39) |
H241R |
probably damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,298,246 (GRCm39) |
F212L |
probably benign |
Het |
| Epha5 |
A |
T |
5: 84,254,559 (GRCm39) |
V519E |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,867,603 (GRCm39) |
D680G |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,192,474 (GRCm39) |
T20A |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,225,830 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,616,121 (GRCm39) |
|
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,932,762 (GRCm39) |
|
probably null |
Het |
| Selenov |
A |
G |
7: 27,989,851 (GRCm39) |
S218P |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,555,662 (GRCm39) |
Y785N |
probably damaging |
Het |
| Ttll13 |
G |
T |
7: 79,909,297 (GRCm39) |
A661S |
possibly damaging |
Het |
|
| Other mutations in Rasgef1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Rasgef1a
|
APN |
6 |
118,057,344 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
2012-12-06 |
Incidental Mutation