Incidental Mutation 'IGL00162:Ralgps1'
| ID |
1905 |
| 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 # |
IGL00162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
33023429-33261498 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 33027694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 516
(*516R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042615]
[ENSMUST00000091039]
[ENSMUST00000113165]
[ENSMUST00000131298]
|
| AlphaFold |
A2AR50 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042615
AA Change: *498R
|
| SMART Domains |
Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: *498R
| 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 null
Transcript: ENSMUST00000091039
AA Change: *586R
|
| SMART Domains |
Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: *586R
| 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 null
Transcript: ENSMUST00000113165
AA Change: *558R
|
| SMART Domains |
Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: *558R
| 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 null
Transcript: ENSMUST00000131298
AA Change: *516R
|
| SMART Domains |
Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: *516R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d1b |
T |
G |
4: 108,484,575 (GRCm39) |
L470R |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,892,162 (GRCm39) |
N275K |
possibly damaging |
Het |
| Col22a1 |
A |
G |
15: 71,732,807 (GRCm39) |
|
probably null |
Het |
| Cyb561 |
T |
C |
11: 105,826,662 (GRCm39) |
H197R |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,080 (GRCm39) |
S22P |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,365,286 (GRCm39) |
|
probably benign |
Het |
| Fgf6 |
A |
T |
6: 127,001,048 (GRCm39) |
K185N |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,619 (GRCm39) |
N353S |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,359,335 (GRCm39) |
Y103* |
probably null |
Het |
| Gm7247 |
G |
A |
14: 51,760,962 (GRCm39) |
C177Y |
possibly damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,989 (GRCm39) |
F72L |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,470,416 (GRCm39) |
E368G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,942,462 (GRCm39) |
E851G |
probably benign |
Het |
| Kif3b |
A |
G |
2: 153,159,051 (GRCm39) |
D284G |
probably damaging |
Het |
| Kyat3 |
G |
A |
3: 142,440,235 (GRCm39) |
A320T |
probably benign |
Het |
| Mok |
C |
T |
12: 110,774,631 (GRCm39) |
|
probably benign |
Het |
| Mrgpra3 |
A |
G |
7: 47,239,267 (GRCm39) |
F220L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,407 (GRCm39) |
H192R |
probably benign |
Het |
| Or2ag19 |
A |
G |
7: 106,444,574 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,299,280 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Ptpn12 |
T |
C |
5: 21,234,848 (GRCm39) |
E45G |
probably damaging |
Het |
| Rps23rg1 |
A |
G |
8: 3,633,904 (GRCm39) |
T2A |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,023,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Siglech |
T |
C |
7: 55,422,339 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,639,274 (GRCm39) |
L212P |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,772,668 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
T |
2: 26,259,324 (GRCm39) |
C609S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,707,979 (GRCm39) |
T139A |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,319 (GRCm39) |
T478A |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,853,727 (GRCm39) |
S198P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,720,823 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,463,034 (GRCm39) |
E406K |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,483 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
G |
4: 108,499,304 (GRCm39) |
V1338A |
possibly damaging |
Het |
|
| Other mutations in Ralgps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation