Incidental Mutation 'R0043:Rasgef1b'
| ID |
16099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgef1b
|
| Ensembl Gene |
ENSMUSG00000089809 |
| Gene Name |
RasGEF domain family, member 1B |
| Synonyms |
Gpig4, 4732452O09Rik |
| MMRRC Submission |
038337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R0043 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
99365279-99400786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99391053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 102
(Y102C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031276]
[ENSMUST00000166484]
[ENSMUST00000168092]
[ENSMUST00000209346]
|
| AlphaFold |
Q8JZL7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031276
AA Change: Y16C
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: Y16C
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
33 |
157 |
5.22e-4 |
SMART |
|
RasGEF
|
201 |
454 |
3.26e-68 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166484
AA Change: Y16C
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: Y16C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEFN
|
33 |
123 |
6e-50 |
BLAST |
|
RasGEF
|
159 |
412 |
3.26e-68 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168092
AA Change: Y16C
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: Y16C
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
33 |
157 |
2.8e-4 |
SMART |
|
RasGEF
|
200 |
453 |
3.26e-68 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209346
AA Change: Y102C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 81.2%
- 3x: 72.1%
- 10x: 49.9%
- 20x: 30.2%
|
| Validation Efficiency |
90% (56/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,672,230 (GRCm39) |
Y213H |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,879 (GRCm39) |
L982P |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 46,460,917 (GRCm39) |
V651E |
probably benign |
Het |
| Cstf3 |
A |
T |
2: 104,475,430 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,996,362 (GRCm39) |
D2658G |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,586,029 (GRCm39) |
S240P |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,005,574 (GRCm39) |
M3765I |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,874 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,826,101 (GRCm39) |
S304T |
probably benign |
Het |
| Gata4 |
T |
C |
14: 63,440,750 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,519 (GRCm39) |
L152P |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,556,678 (GRCm39) |
T694S |
possibly damaging |
Het |
| Kalrn |
C |
A |
16: 33,875,276 (GRCm39) |
G99W |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,495,196 (GRCm39) |
W448R |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,811 (GRCm39) |
Y351* |
probably null |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,302,310 (GRCm39) |
D908G |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Sbf1 |
A |
G |
15: 89,179,764 (GRCm39) |
V1281A |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,764 (GRCm39) |
S794R |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,134,820 (GRCm39) |
V331E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,722,883 (GRCm39) |
I766F |
possibly damaging |
Het |
| Spata6 |
A |
T |
4: 111,638,002 (GRCm39) |
R277S |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,958,610 (GRCm39) |
|
probably benign |
Het |
| Ube2u |
G |
T |
4: 100,340,026 (GRCm39) |
V66F |
possibly damaging |
Het |
| Usp42 |
A |
C |
5: 143,700,465 (GRCm39) |
V1186G |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,077,815 (GRCm39) |
I419T |
probably damaging |
Het |
|
| Other mutations in Rasgef1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0011:Rasgef1b
|
UTSW |
5 |
99,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Rasgef1b
|
UTSW |
5 |
99,382,461 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7033:Rasgef1b
|
UTSW |
5 |
99,380,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7199:Rasgef1b
|
UTSW |
5 |
99,447,898 (GRCm39) |
missense |
unknown |
|
|
R7244:Rasgef1b
|
UTSW |
5 |
99,706,753 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7872:Rasgef1b
|
UTSW |
5 |
99,382,403 (GRCm39) |
nonsense |
probably null |
|
|
R8087:Rasgef1b
|
UTSW |
5 |
99,369,248 (GRCm39) |
missense |
probably benign |
|
|
R8673:Rasgef1b
|
UTSW |
5 |
99,370,844 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8684:Rasgef1b
|
UTSW |
5 |
99,524,994 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8725:Rasgef1b
|
UTSW |
5 |
99,447,895 (GRCm39) |
missense |
unknown |
|
|
R8803:Rasgef1b
|
UTSW |
5 |
99,369,269 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8882:Rasgef1b
|
UTSW |
5 |
99,524,860 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9209:Rasgef1b
|
UTSW |
5 |
99,370,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9396:Rasgef1b
|
UTSW |
5 |
99,377,188 (GRCm39) |
missense |
probably benign |
|
|
R9644:Rasgef1b
|
UTSW |
5 |
99,380,014 (GRCm39) |
nonsense |
probably null |
|
|
R9726:Rasgef1b
|
UTSW |
5 |
99,382,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-08 |
Incidental Mutation