Incidental Mutation 'IGL02748:Rassf4'
| ID |
306168 |
| 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 # |
IGL02748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
116609969-116650797 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116616418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 298
(I298V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000203029]
|
| AlphaFold |
Q8CB96 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035842
AA Change: I298V
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: I298V
| 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 |
possibly damaging
Transcript: ENSMUST00000203029
AA Change: I298V
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
AA Change: I298V
| 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 |
noncoding transcript
Transcript: ENSMUST00000203477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204313
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
T |
A |
5: 144,203,415 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
| Crlf3 |
A |
G |
11: 79,950,145 (GRCm39) |
S162P |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,113,142 (GRCm39) |
R231C |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,421,589 (GRCm39) |
|
probably benign |
Het |
| Efcab12 |
T |
A |
6: 115,797,063 (GRCm39) |
T364S |
probably damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,786,684 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,535,173 (GRCm39) |
L92P |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,387,278 (GRCm39) |
I239T |
possibly damaging |
Het |
| Fndc4 |
T |
C |
5: 31,452,130 (GRCm39) |
T96A |
possibly damaging |
Het |
| Gcn1 |
G |
A |
5: 115,748,859 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
A |
G |
4: 88,562,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,903,728 (GRCm39) |
H56R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,761 (GRCm39) |
D3786G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,337,082 (GRCm39) |
V1339E |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 3,968,587 (GRCm39) |
V414A |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 3,930,268 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
T |
A |
2: 87,140,009 (GRCm39) |
L312Q |
probably damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,204 (GRCm39) |
F274L |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,439,189 (GRCm39) |
L187P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,273 (GRCm39) |
S502P |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,554,541 (GRCm39) |
N242K |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,945,021 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,198 (GRCm39) |
M729V |
probably damaging |
Het |
| Rai14 |
A |
G |
15: 10,589,421 (GRCm39) |
V259A |
probably benign |
Het |
| Senp7 |
C |
T |
16: 56,006,457 (GRCm39) |
T927M |
probably damaging |
Het |
| Snx27 |
A |
T |
3: 94,410,872 (GRCm39) |
I426N |
probably benign |
Het |
| Syce1l |
A |
T |
8: 114,382,097 (GRCm39) |
|
probably benign |
Het |
| Tmem18 |
T |
C |
12: 30,638,744 (GRCm39) |
*141Q |
probably null |
Het |
| Tnrc6c |
T |
C |
11: 117,622,996 (GRCm39) |
S1006P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,653,157 (GRCm39) |
T308A |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,057 (GRCm39) |
C795S |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,096,010 (GRCm39) |
S143P |
probably benign |
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 |
|
IGL01132:Rassf4
|
APN |
6 |
116,636,568 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation