Incidental Mutation 'R4741:Ralgps1'
ID |
358061 |
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 |
042026-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.348)
|
Stock # |
R4741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
33023429-33261498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33226599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 31
(S31G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042615]
[ENSMUST00000091039]
[ENSMUST00000113165]
[ENSMUST00000131298]
|
AlphaFold |
A2AR50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042615
AA Change: S31G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000048451 Gene: ENSMUSG00000038831 AA Change: S31G
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: S31G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000088563 Gene: ENSMUSG00000038831 AA Change: S31G
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 |
noncoding transcript
Transcript: ENSMUST00000113164
|
SMART Domains |
Protein: ENSMUSP00000108789 Gene: ENSMUSG00000038831
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
RasGEF
|
46 |
242 |
1.49e-53 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113165
AA Change: S31G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108790 Gene: ENSMUSG00000038831 AA Change: S31G
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: S31G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118363 Gene: ENSMUSG00000038831 AA Change: S31G
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl2 |
T |
C |
2: 33,136,200 (GRCm39) |
Y462H |
probably benign |
Het |
Arhgef12 |
A |
G |
9: 42,883,449 (GRCm39) |
I1360T |
possibly damaging |
Het |
Armc10 |
T |
G |
5: 21,856,834 (GRCm39) |
L111R |
probably damaging |
Het |
Atm |
T |
C |
9: 53,364,907 (GRCm39) |
K2628E |
probably benign |
Het |
Best3 |
A |
T |
10: 116,859,901 (GRCm39) |
N387I |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,996,524 (GRCm39) |
T1079A |
probably damaging |
Het |
Brpf3 |
T |
C |
17: 29,036,758 (GRCm39) |
F721S |
possibly damaging |
Het |
Cacna1c |
A |
G |
6: 118,590,271 (GRCm39) |
S1411P |
probably damaging |
Het |
Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
Clip2 |
T |
A |
5: 134,545,123 (GRCm39) |
T344S |
probably benign |
Het |
Csmd1 |
A |
C |
8: 15,960,447 (GRCm39) |
W3323G |
probably damaging |
Het |
Doc2a |
A |
T |
7: 126,450,617 (GRCm39) |
T298S |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,512,286 (GRCm39) |
N234S |
probably benign |
Het |
Dtx2 |
C |
T |
5: 136,055,371 (GRCm39) |
R353C |
probably benign |
Het |
Epm2aip1 |
A |
G |
9: 111,101,681 (GRCm39) |
H218R |
probably benign |
Het |
F2rl1 |
G |
A |
13: 95,650,651 (GRCm39) |
T77M |
probably damaging |
Het |
Fsd2 |
A |
G |
7: 81,201,643 (GRCm39) |
|
probably null |
Het |
Grin2a |
T |
C |
16: 9,481,376 (GRCm39) |
Y475C |
probably damaging |
Het |
H2-Ob |
T |
A |
17: 34,461,545 (GRCm39) |
S95T |
possibly damaging |
Het |
Hddc3 |
A |
G |
7: 79,995,464 (GRCm39) |
T160A |
probably benign |
Het |
Hp |
A |
T |
8: 110,302,104 (GRCm39) |
C281* |
probably null |
Het |
Ighg1 |
T |
C |
12: 113,290,178 (GRCm39) |
|
probably benign |
Het |
Ints7 |
A |
G |
1: 191,351,747 (GRCm39) |
I819V |
probably benign |
Het |
Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
Jmjd1c |
A |
G |
10: 67,060,718 (GRCm39) |
I737V |
possibly damaging |
Het |
Krt74 |
C |
T |
15: 101,669,876 (GRCm39) |
|
noncoding transcript |
Het |
Lnpep |
T |
C |
17: 17,791,920 (GRCm39) |
Y407C |
probably damaging |
Het |
Lrp4 |
T |
G |
2: 91,341,912 (GRCm39) |
C1842G |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,056,572 (GRCm39) |
N1172K |
probably benign |
Het |
Npy6r |
A |
T |
18: 44,408,791 (GRCm39) |
T71S |
probably damaging |
Het |
Nsd3 |
A |
T |
8: 26,163,382 (GRCm39) |
I591F |
probably damaging |
Het |
Oog2 |
A |
C |
4: 143,921,715 (GRCm39) |
E208D |
possibly damaging |
Het |
Otogl |
A |
G |
10: 107,615,121 (GRCm39) |
I1928T |
probably benign |
Het |
Papss1 |
T |
C |
3: 131,324,860 (GRCm39) |
L418P |
probably damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,576,571 (GRCm39) |
D316E |
probably benign |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,737 (GRCm39) |
|
probably null |
Het |
Ptcd3 |
T |
A |
6: 71,879,933 (GRCm39) |
L108F |
probably damaging |
Het |
Rnf225 |
A |
T |
7: 12,661,857 (GRCm39) |
H12L |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,633,613 (GRCm39) |
M2047L |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpinb3b |
G |
T |
1: 107,082,200 (GRCm39) |
Q355K |
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,868,233 (GRCm39) |
F155Y |
probably damaging |
Het |
Taf1c |
A |
G |
8: 120,330,134 (GRCm39) |
|
probably benign |
Het |
Tln2 |
A |
G |
9: 67,293,837 (GRCm39) |
|
probably null |
Het |
Tmpo |
A |
G |
10: 90,998,506 (GRCm39) |
V427A |
probably benign |
Het |
Vmn1r17 |
A |
T |
6: 57,338,337 (GRCm39) |
Y9* |
probably null |
Het |
Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zfand5 |
C |
T |
19: 21,253,845 (GRCm39) |
T16I |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,113,177 (GRCm39) |
K439M |
possibly damaging |
Het |
Zfp786 |
G |
A |
6: 47,797,625 (GRCm39) |
H438Y |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,319,763 (GRCm39) |
C331S |
probably damaging |
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 |
R0007:Ralgps1
|
UTSW |
2 |
33,033,401 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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'- GCTCTCCTACTGTGTACACATG -3'
(R):5'- GTAGACACCTTTCAACATGCCC -3'
Sequencing Primer
(F):5'- ACTGTGTACACATGTGGCATTC -3'
(R):5'- GCCTTTGGTCAGAGACATAGAACTC -3'
|
Posted On |
2015-11-11 |