Incidental Mutation 'IGL03224:Rasgef1a'
ID |
413752 |
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 # |
IGL03224
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
117988466-118068507 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 118066767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164960]
[ENSMUST00000203482]
[ENSMUST00000203804]
|
AlphaFold |
A0A0N4SVR5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164960
|
SMART Domains |
Protein: ENSMUSP00000132244 Gene: ENSMUSG00000030134
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 benign
Transcript: ENSMUST00000203482
|
SMART Domains |
Protein: ENSMUSP00000145077 Gene: ENSMUSG00000030134
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
|
SMART Domains |
Protein: ENSMUSP00000145214 Gene: ENSMUSG00000030134
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
T |
C |
3: 88,942,575 (GRCm39) |
|
probably benign |
Het |
Capn10 |
T |
G |
1: 92,867,046 (GRCm39) |
V92G |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,450,780 (GRCm39) |
C532R |
probably damaging |
Het |
Csf1r |
T |
C |
18: 61,245,134 (GRCm39) |
F233L |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,349,547 (GRCm39) |
D82G |
probably damaging |
Het |
Cym |
T |
C |
3: 107,126,048 (GRCm39) |
S72G |
possibly damaging |
Het |
Cyp4a29 |
T |
A |
4: 115,104,247 (GRCm39) |
M105K |
probably damaging |
Het |
Dhx35 |
T |
C |
2: 158,699,052 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
C |
A |
15: 28,459,300 (GRCm39) |
D4506E |
probably damaging |
Het |
Dok5 |
T |
C |
2: 170,674,807 (GRCm39) |
F139L |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,076,235 (GRCm39) |
D2974G |
probably benign |
Het |
Frem3 |
C |
T |
8: 81,340,092 (GRCm39) |
T795I |
probably damaging |
Het |
Ints6l |
A |
G |
X: 55,543,287 (GRCm39) |
T525A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,361,043 (GRCm39) |
T587A |
possibly damaging |
Het |
Meikin |
A |
G |
11: 54,289,286 (GRCm39) |
M220V |
probably benign |
Het |
Mmp12 |
T |
A |
9: 7,350,002 (GRCm39) |
|
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,180,283 (GRCm39) |
Y1190C |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,185,525 (GRCm39) |
K963E |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,322,569 (GRCm39) |
D2614G |
probably damaging |
Het |
Ppp1r3f |
A |
G |
X: 7,426,821 (GRCm39) |
V480A |
probably benign |
Het |
Prkcb |
A |
T |
7: 122,116,147 (GRCm39) |
K209* |
probably null |
Het |
Ryr3 |
A |
T |
2: 112,784,681 (GRCm39) |
C233* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,933,520 (GRCm39) |
R1534G |
probably damaging |
Het |
Slitrk3 |
A |
T |
3: 72,957,263 (GRCm39) |
L503H |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 99,918,156 (GRCm39) |
K380E |
possibly damaging |
Het |
Spata31d1a |
A |
G |
13: 59,848,840 (GRCm39) |
V1096A |
possibly damaging |
Het |
Synrg |
C |
T |
11: 83,930,492 (GRCm39) |
T1278M |
possibly damaging |
Het |
Teddm1a |
G |
T |
1: 153,767,763 (GRCm39) |
V76F |
possibly damaging |
Het |
Troap |
A |
G |
15: 98,979,758 (GRCm39) |
T365A |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,391,776 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
2016-08-02 |