Incidental Mutation 'IGL01358:Ralgps1'
| ID |
75613 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ralgps1
|
| Ensembl Gene |
ENSMUSG00000038831 |
| Gene Name |
Ral GEF with PH domain and SH3 binding motif 1 |
| Synonyms |
RALGPS1A, RALGEF2, 5830418G11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
IGL01358
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
33023429-33261498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33033061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 456
(D456G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000042615
AA Change: D456G
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: D456G
| 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: D544G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: D544G
| 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: D516G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: D516G
| 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: D474G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: D474G
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
A |
G |
7: 27,335,579 (GRCm39) |
Y316C |
probably damaging |
Het |
| Atp6v0a4 |
T |
G |
6: 38,051,145 (GRCm39) |
D411A |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,181,057 (GRCm39) |
Y178* |
probably null |
Het |
| Ces1e |
A |
G |
8: 93,940,778 (GRCm39) |
L298P |
probably damaging |
Het |
| Clk3 |
T |
C |
9: 57,661,875 (GRCm39) |
T391A |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,842,128 (GRCm39) |
I275T |
probably damaging |
Het |
| Cul9 |
G |
T |
17: 46,849,240 (GRCm39) |
P635H |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dscam |
A |
T |
16: 96,411,543 (GRCm39) |
S1778T |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,850 (GRCm39) |
Y943N |
probably damaging |
Het |
| Eml1 |
A |
T |
12: 108,480,727 (GRCm39) |
T398S |
probably benign |
Het |
| Epha3 |
G |
A |
16: 63,416,109 (GRCm39) |
|
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,348,374 (GRCm39) |
M200K |
probably benign |
Het |
| Ighmbp2 |
T |
A |
19: 3,318,817 (GRCm39) |
S420C |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,806,017 (GRCm39) |
I1200N |
probably damaging |
Het |
| Kctd21 |
T |
A |
7: 96,996,581 (GRCm39) |
L18Q |
probably damaging |
Het |
| Krt78 |
A |
C |
15: 101,854,698 (GRCm39) |
S1038A |
probably benign |
Het |
| Lrp2 |
C |
A |
2: 69,382,814 (GRCm39) |
|
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,932,784 (GRCm39) |
V60D |
probably benign |
Het |
| Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
| Mest |
T |
A |
6: 30,746,330 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
G |
A |
11: 71,072,682 (GRCm39) |
T387I |
possibly damaging |
Het |
| Notch3 |
C |
T |
17: 32,363,721 (GRCm39) |
D1140N |
probably damaging |
Het |
| Nxph2 |
A |
G |
2: 23,290,086 (GRCm39) |
N146S |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,119,507 (GRCm39) |
C381R |
probably damaging |
Het |
| Or56b1b |
T |
A |
7: 108,164,409 (GRCm39) |
R198W |
probably benign |
Het |
| Or5p81 |
C |
T |
7: 108,266,869 (GRCm39) |
P82L |
possibly damaging |
Het |
| Parp11 |
C |
T |
6: 127,448,526 (GRCm39) |
Q48* |
probably null |
Het |
| Pgc |
T |
C |
17: 48,041,591 (GRCm39) |
V175A |
probably benign |
Het |
| Pira12 |
A |
G |
7: 3,898,686 (GRCm39) |
V254A |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,299,732 (GRCm39) |
T1679N |
probably damaging |
Het |
| Pnpt1 |
G |
T |
11: 29,088,425 (GRCm39) |
L229F |
possibly damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,819,897 (GRCm39) |
L282Q |
probably damaging |
Het |
| Rag2 |
C |
A |
2: 101,460,365 (GRCm39) |
A225D |
possibly damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,130,749 (GRCm39) |
T170S |
probably benign |
Het |
| Rel |
C |
T |
11: 23,711,155 (GRCm39) |
S4N |
probably benign |
Het |
| Rims3 |
C |
T |
4: 120,748,700 (GRCm39) |
S307F |
possibly damaging |
Het |
| Rnf123 |
A |
G |
9: 107,946,381 (GRCm39) |
L290P |
probably damaging |
Het |
| Rtn4r |
G |
T |
16: 17,969,260 (GRCm39) |
M229I |
possibly damaging |
Het |
| Rusc2 |
G |
A |
4: 43,426,116 (GRCm39) |
R1407Q |
probably damaging |
Het |
| Sec23ip |
A |
T |
7: 128,354,521 (GRCm39) |
Q259L |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,189,894 (GRCm39) |
C204Y |
probably benign |
Het |
| Slc27a3 |
T |
C |
3: 90,293,859 (GRCm39) |
T542A |
probably damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,655,724 (GRCm39) |
I668F |
possibly damaging |
Het |
| Snap91 |
C |
A |
9: 86,688,613 (GRCm39) |
V311F |
probably damaging |
Het |
| Sp8 |
T |
A |
12: 118,812,705 (GRCm39) |
S187T |
probably damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,657,342 (GRCm39) |
S275P |
unknown |
Het |
| Vwce |
T |
A |
19: 10,641,773 (GRCm39) |
V833D |
possibly damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,327,052 (GRCm39) |
S38P |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,900,398 (GRCm39) |
|
probably benign |
Het |
| Zkscan4 |
G |
A |
13: 21,668,475 (GRCm39) |
E309K |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation