Incidental Mutation 'IGL01132:Rassf4'
ID |
51366 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rassf4
|
Ensembl Gene |
ENSMUSG00000042129 |
Gene Name |
Ras association (RalGDS/AF-6) domain family member 4 |
Synonyms |
3830411C14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL01132
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
116609969-116650797 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 116636568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000203029]
[ENSMUST00000204203]
[ENSMUST00000204576]
|
AlphaFold |
Q8CB96 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035842
|
SMART Domains |
Protein: ENSMUSP00000048267 Gene: ENSMUSG00000042129
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
RA
|
173 |
263 |
1.36e-15 |
SMART |
Pfam:Nore1-SARAH
|
276 |
315 |
1.7e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203029
|
SMART Domains |
Protein: ENSMUSP00000144786 Gene: ENSMUSG00000042129
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
RA
|
173 |
263 |
8.7e-18 |
SMART |
Pfam:Nore1-SARAH
|
276 |
303 |
1.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204313
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204576
|
SMART Domains |
Protein: ENSMUSP00000145394 Gene: ENSMUSG00000042129
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,495,732 (GRCm39) |
N619S |
probably benign |
Het |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,704,404 (GRCm39) |
H30R |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,910,055 (GRCm39) |
S1483P |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,901,274 (GRCm39) |
T127A |
probably benign |
Het |
Clmn |
T |
A |
12: 104,740,810 (GRCm39) |
|
probably null |
Het |
Dcc |
A |
T |
18: 71,815,245 (GRCm39) |
Y376* |
probably null |
Het |
Dennd2b |
A |
G |
7: 109,169,212 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
C |
T |
9: 45,663,626 (GRCm39) |
R1950* |
probably null |
Het |
Eml2 |
A |
T |
7: 18,934,464 (GRCm39) |
S388C |
probably damaging |
Het |
Ext2 |
C |
T |
2: 93,621,418 (GRCm39) |
M370I |
probably benign |
Het |
Foxo1 |
C |
T |
3: 52,252,580 (GRCm39) |
R248W |
probably damaging |
Het |
Gan |
T |
A |
8: 117,923,183 (GRCm39) |
|
probably benign |
Het |
Klra1 |
A |
T |
6: 130,341,237 (GRCm39) |
C245* |
probably null |
Het |
Myh10 |
A |
T |
11: 68,659,094 (GRCm39) |
M491L |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,200,569 (GRCm39) |
Y343H |
probably damaging |
Het |
Oplah |
C |
T |
15: 76,185,157 (GRCm39) |
S852N |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
Or7e168 |
G |
A |
9: 19,719,950 (GRCm39) |
S112N |
probably damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,510 (GRCm39) |
C181S |
probably benign |
Het |
Prag1 |
T |
C |
8: 36,613,511 (GRCm39) |
V1021A |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,569,413 (GRCm39) |
I102V |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,694,314 (GRCm39) |
I46T |
probably benign |
Het |
Slc5a12 |
T |
C |
2: 110,428,167 (GRCm39) |
V74A |
probably damaging |
Het |
Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
Tcte1 |
G |
T |
17: 45,850,788 (GRCm39) |
A355S |
possibly damaging |
Het |
|
Other mutations in Rassf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00482:Rassf4
|
APN |
6 |
116,622,089 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01637:Rassf4
|
APN |
6 |
116,618,651 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02000:Rassf4
|
APN |
6 |
116,622,933 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02748:Rassf4
|
APN |
6 |
116,616,418 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02976:Rassf4
|
APN |
6 |
116,615,209 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03394:Rassf4
|
APN |
6 |
116,618,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R0573:Rassf4
|
UTSW |
6 |
116,624,516 (GRCm39) |
splice site |
probably benign |
|
R0599:Rassf4
|
UTSW |
6 |
116,622,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R1741:Rassf4
|
UTSW |
6 |
116,616,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1750:Rassf4
|
UTSW |
6 |
116,617,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R2117:Rassf4
|
UTSW |
6 |
116,622,088 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2369:Rassf4
|
UTSW |
6 |
116,615,258 (GRCm39) |
missense |
probably damaging |
0.97 |
R2916:Rassf4
|
UTSW |
6 |
116,618,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2918:Rassf4
|
UTSW |
6 |
116,618,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Rassf4
|
UTSW |
6 |
116,622,103 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5716:Rassf4
|
UTSW |
6 |
116,638,828 (GRCm39) |
missense |
probably benign |
0.01 |
R6769:Rassf4
|
UTSW |
6 |
116,618,433 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7304:Rassf4
|
UTSW |
6 |
116,617,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R7981:Rassf4
|
UTSW |
6 |
116,617,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R8890:Rassf4
|
UTSW |
6 |
116,617,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R8921:Rassf4
|
UTSW |
6 |
116,638,897 (GRCm39) |
splice site |
probably benign |
|
R9459:Rassf4
|
UTSW |
6 |
116,618,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9516:Rassf4
|
UTSW |
6 |
116,617,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9698:Rassf4
|
UTSW |
6 |
116,618,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |