Incidental Mutation 'IGL03017:Rassf8'
| ID |
407943 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rassf8
|
| Ensembl Gene |
ENSMUSG00000030259 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 |
| Synonyms |
mHoj-1, 5133400D11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.742)
|
| Stock # |
IGL03017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
145692474-145766805 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 145762924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032388]
[ENSMUST00000058538]
[ENSMUST00000111704]
[ENSMUST00000140966]
|
| AlphaFold |
Q8CJ96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032388
|
| SMART Domains |
Protein: ENSMUSP00000032388
Gene: ENSMUSG00000030259
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
1 |
82 |
4.17e-11 |
SMART |
|
coiled coil region
|
161 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000058538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111704
|
| SMART Domains |
Protein: ENSMUSP00000107333
Gene: ENSMUSG00000030259
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
1 |
82 |
4.17e-11 |
SMART |
|
coiled coil region
|
161 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140966
|
| SMART Domains |
Protein: ENSMUSP00000122684
Gene: ENSMUSG00000030259
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
1 |
80 |
7.85e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
C |
A |
3: 87,624,367 (GRCm39) |
Y519* |
probably null |
Het |
| Arhgef26 |
T |
A |
3: 62,355,702 (GRCm39) |
M758K |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,978 (GRCm39) |
Y500C |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,555,785 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
C |
15: 28,340,471 (GRCm39) |
I2293L |
possibly damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Gpr45 |
C |
T |
1: 43,071,516 (GRCm39) |
T53M |
possibly damaging |
Het |
| Hoxd3 |
T |
A |
2: 74,577,050 (GRCm39) |
M310K |
possibly damaging |
Het |
| Mtr |
A |
G |
13: 12,262,777 (GRCm39) |
|
probably null |
Het |
| Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo1d |
C |
T |
11: 80,492,452 (GRCm39) |
V768I |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,087,679 (GRCm39) |
C771R |
probably benign |
Het |
| Or1e30 |
C |
A |
11: 73,678,344 (GRCm39) |
H193Q |
probably benign |
Het |
| Patj |
G |
A |
4: 98,353,264 (GRCm39) |
|
probably benign |
Het |
| Pkp3 |
C |
A |
7: 140,663,283 (GRCm39) |
A376D |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,096,769 (GRCm39) |
V57A |
probably benign |
Het |
| Poteg |
A |
T |
8: 27,952,069 (GRCm39) |
K232N |
probably benign |
Het |
| Psat1 |
G |
T |
19: 15,894,499 (GRCm39) |
A168E |
possibly damaging |
Het |
| Slc37a3 |
T |
A |
6: 39,326,315 (GRCm39) |
I281L |
probably benign |
Het |
| Sncaip |
A |
T |
18: 53,028,009 (GRCm39) |
H466L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,698,646 (GRCm39) |
T30A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,460 (GRCm39) |
E16337G |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,969,861 (GRCm39) |
M662I |
possibly damaging |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,839 (GRCm39) |
M389K |
probably damaging |
Het |
| Vmn2r39 |
A |
C |
7: 9,017,940 (GRCm39) |
Y799D |
probably damaging |
Het |
|
| Other mutations in Rassf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02973:Rassf8
|
APN |
6 |
145,762,916 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03091:Rassf8
|
APN |
6 |
145,761,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0230:Rassf8
|
UTSW |
6 |
145,765,700 (GRCm39) |
unclassified |
probably benign |
|
|
R0967:Rassf8
|
UTSW |
6 |
145,765,676 (GRCm39) |
unclassified |
probably benign |
|
|
R1429:Rassf8
|
UTSW |
6 |
145,760,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Rassf8
|
UTSW |
6 |
145,765,829 (GRCm39) |
unclassified |
probably benign |
|
|
R1738:Rassf8
|
UTSW |
6 |
145,761,034 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1894:Rassf8
|
UTSW |
6 |
145,754,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Rassf8
|
UTSW |
6 |
145,760,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2238:Rassf8
|
UTSW |
6 |
145,762,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Rassf8
|
UTSW |
6 |
145,761,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3699:Rassf8
|
UTSW |
6 |
145,765,802 (GRCm39) |
unclassified |
probably benign |
|
|
R4678:Rassf8
|
UTSW |
6 |
145,760,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Rassf8
|
UTSW |
6 |
145,761,266 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4826:Rassf8
|
UTSW |
6 |
145,762,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Rassf8
|
UTSW |
6 |
145,761,006 (GRCm39) |
nonsense |
probably null |
|
|
R4988:Rassf8
|
UTSW |
6 |
145,762,870 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5425:Rassf8
|
UTSW |
6 |
145,761,268 (GRCm39) |
missense |
probably benign |
|
|
R5620:Rassf8
|
UTSW |
6 |
145,765,907 (GRCm39) |
unclassified |
probably benign |
|
|
R5747:Rassf8
|
UTSW |
6 |
145,761,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6136:Rassf8
|
UTSW |
6 |
145,761,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6220:Rassf8
|
UTSW |
6 |
145,762,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Rassf8
|
UTSW |
6 |
145,761,295 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7315:Rassf8
|
UTSW |
6 |
145,761,477 (GRCm39) |
missense |
probably benign |
|
|
R7480:Rassf8
|
UTSW |
6 |
145,765,757 (GRCm39) |
missense |
unknown |
|
|
R7593:Rassf8
|
UTSW |
6 |
145,761,129 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7714:Rassf8
|
UTSW |
6 |
145,760,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7962:Rassf8
|
UTSW |
6 |
145,761,669 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8222:Rassf8
|
UTSW |
6 |
145,765,783 (GRCm39) |
missense |
unknown |
|
|
R8374:Rassf8
|
UTSW |
6 |
145,760,863 (GRCm39) |
nonsense |
probably null |
|
|
R8409:Rassf8
|
UTSW |
6 |
145,761,429 (GRCm39) |
missense |
probably benign |
|
|
R9314:Rassf8
|
UTSW |
6 |
145,762,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Rassf8
|
UTSW |
6 |
145,762,342 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1088:Rassf8
|
UTSW |
6 |
145,761,208 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Rassf8
|
UTSW |
6 |
145,762,368 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation