Incidental Mutation 'R0007:Ralgps1'
| ID |
212458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgps1
|
| Ensembl Gene |
ENSMUSG00000038831 |
| Gene Name |
Ral GEF with PH domain and SH3 binding motif 1 |
| Synonyms |
RALGPS1A, RALGEF2, 5830418G11Rik |
| MMRRC Submission |
038302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R0007 (G1)
|
| Quality Score |
69 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
33023429-33261498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33033401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 393
(S393P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042615]
[ENSMUST00000091039]
[ENSMUST00000113165]
[ENSMUST00000131298]
|
| AlphaFold |
A2AR50 |
| PDB Structure |
Crystal structure of MS0666 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042615
AA Change: S393P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: S393P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
273 |
4.59e-86 |
SMART |
|
low complexity region
|
286 |
301 |
N/A |
INTRINSIC |
|
PH
|
372 |
485 |
1.87e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091039
AA Change: S481P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: S481P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
|
PH
|
460 |
573 |
1.87e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113165
AA Change: S453P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: S453P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
|
PH
|
459 |
572 |
1.87e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131298
AA Change: S411P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: S411P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
PH
|
390 |
503 |
1.87e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138704
|
| Meta Mutation Damage Score |
0.1261 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,562 (GRCm39) |
Y543N |
probably damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,150,772 (GRCm39) |
|
probably null |
Het |
| AI504432 |
T |
A |
3: 106,956,152 (GRCm39) |
|
noncoding transcript |
Het |
| Cd82 |
T |
C |
2: 93,264,226 (GRCm39) |
N39S |
probably benign |
Het |
| Cntnap2 |
A |
C |
6: 45,969,007 (GRCm39) |
N250H |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,471 (GRCm39) |
V973A |
unknown |
Het |
| Cyp2c66 |
T |
A |
19: 39,159,402 (GRCm39) |
C284* |
probably null |
Het |
| Denr |
T |
A |
5: 124,062,877 (GRCm39) |
Y127N |
probably damaging |
Het |
| Diaph3 |
C |
A |
14: 87,104,056 (GRCm39) |
R776L |
possibly damaging |
Het |
| Gm5600 |
T |
A |
7: 113,307,010 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
A |
T |
9: 14,997,471 (GRCm39) |
D398E |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,630,938 (GRCm39) |
|
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,723,449 (GRCm39) |
F154L |
probably benign |
Het |
| Myo1b |
T |
A |
1: 51,815,413 (GRCm39) |
R650S |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,840,574 (GRCm38) |
H153Q |
probably benign |
Het |
| Nelfe |
A |
G |
17: 35,072,962 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,250,515 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,048,153 (GRCm39) |
S653P |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,122,420 (GRCm39) |
S246P |
probably damaging |
Het |
| Or8b101 |
A |
T |
9: 38,020,390 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,632,225 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,140,230 (GRCm39) |
A60T |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,186,437 (GRCm39) |
D173N |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,234,946 (GRCm39) |
Q523L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,806,473 (GRCm39) |
Y63H |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,719,944 (GRCm39) |
M84V |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,893 (GRCm39) |
A1453T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,710,548 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ralgps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Ralgps1
|
APN |
2 |
33,027,694 (GRCm39) |
makesense |
probably null |
|
|
IGL00780:Ralgps1
|
APN |
2 |
33,163,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00951:Ralgps1
|
APN |
2 |
33,163,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01358:Ralgps1
|
APN |
2 |
33,033,061 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02346:Ralgps1
|
APN |
2 |
33,047,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02481:Ralgps1
|
APN |
2 |
33,230,741 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03281:Ralgps1
|
APN |
2 |
33,062,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03284:Ralgps1
|
APN |
2 |
33,036,577 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Ralgps1
|
APN |
2 |
33,062,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Ralgps1
|
UTSW |
2 |
33,031,031 (GRCm39) |
missense |
probably benign |
|
|
R0309:Ralgps1
|
UTSW |
2 |
33,047,935 (GRCm39) |
missense |
probably benign |
|
|
R0320:Ralgps1
|
UTSW |
2 |
33,031,027 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0622:Ralgps1
|
UTSW |
2 |
33,064,459 (GRCm39) |
nonsense |
probably null |
|
|
R1277:Ralgps1
|
UTSW |
2 |
33,064,437 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1797:Ralgps1
|
UTSW |
2 |
33,230,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2921:Ralgps1
|
UTSW |
2 |
33,033,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3123:Ralgps1
|
UTSW |
2 |
33,048,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3124:Ralgps1
|
UTSW |
2 |
33,048,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4741:Ralgps1
|
UTSW |
2 |
33,226,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4894:Ralgps1
|
UTSW |
2 |
33,033,115 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5148:Ralgps1
|
UTSW |
2 |
33,048,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Ralgps1
|
UTSW |
2 |
33,166,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Ralgps1
|
UTSW |
2 |
33,133,640 (GRCm39) |
unclassified |
probably benign |
|
|
R6330:Ralgps1
|
UTSW |
2 |
33,064,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Ralgps1
|
UTSW |
2 |
33,033,112 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7252:Ralgps1
|
UTSW |
2 |
33,058,200 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7299:Ralgps1
|
UTSW |
2 |
33,047,885 (GRCm39) |
missense |
probably benign |
|
|
R7366:Ralgps1
|
UTSW |
2 |
33,214,700 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7973:Ralgps1
|
UTSW |
2 |
33,036,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Ralgps1
|
UTSW |
2 |
33,062,442 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8513:Ralgps1
|
UTSW |
2 |
33,226,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Ralgps1
|
UTSW |
2 |
33,035,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8733:Ralgps1
|
UTSW |
2 |
33,174,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8841:Ralgps1
|
UTSW |
2 |
33,045,329 (GRCm39) |
missense |
probably benign |
|
|
R9261:Ralgps1
|
UTSW |
2 |
33,226,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Ralgps1
|
UTSW |
2 |
33,163,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCAAGGCAGACTAACATGGC -3'
(R):5'- TGAGCATTCCATTTCTAGGTGGCAG -3'
Sequencing Primer
(F):5'- ATGGCCCACCCTAGCTC -3'
(R):5'- CTGAAGTACCTTCCACAAGGGG -3'
|
| Posted On |
2014-07-03 |
Incidental Mutation