Incidental Mutation 'R0011:Rasgef1b'
| ID |
19130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgef1b
|
| Ensembl Gene |
ENSMUSG00000089809 |
| Gene Name |
RasGEF domain family, member 1B |
| Synonyms |
Gpig4, 4732452O09Rik |
| MMRRC Submission |
038306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R0011 (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 99380213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 344
(Y344C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031276]
[ENSMUST00000166484]
[ENSMUST00000168092]
[ENSMUST00000209346]
|
| AlphaFold |
Q8JZL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031276
AA Change: Y258C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: Y258C
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
33 |
157 |
5.22e-4 |
SMART |
|
RasGEF
|
201 |
454 |
3.26e-68 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166484
AA Change: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: Y216C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEFN
|
33 |
123 |
6e-50 |
BLAST |
|
RasGEF
|
159 |
412 |
3.26e-68 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166632
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168092
AA Change: Y257C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: Y257C
| 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: Y344C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8237 |
| Coding Region Coverage |
- 1x: 78.3%
- 3x: 67.8%
- 10x: 41.6%
- 20x: 22.3%
|
| Validation Efficiency |
92% (85/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
| Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
| Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,038,290 (GRCm39) |
|
probably benign |
Het |
| Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
| Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ift70a2 |
T |
A |
2: 75,806,561 (GRCm39) |
R650S |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
| Krt35 |
T |
A |
11: 99,984,502 (GRCm39) |
Q331L |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
C |
17: 87,987,521 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
A |
C |
12: 4,372,896 (GRCm39) |
F57L |
possibly damaging |
Het |
| Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,897,335 (GRCm39) |
S802P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,833,048 (GRCm39) |
S152P |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
| Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
| Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
| Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
| Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
| Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
probably benign |
Het |
|
| Other mutations in Rasgef1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0043:Rasgef1b
|
UTSW |
5 |
99,391,053 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2013-03-25 |
Incidental Mutation