Incidental Mutation 'R2439:Rassf8'
| ID |
249730 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145692474-145766805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145761060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 129
(S129P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032388]
[ENSMUST00000058538]
[ENSMUST00000111704]
[ENSMUST00000140966]
|
| AlphaFold |
Q8CJ96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032388
AA Change: S129P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032388
Gene: ENSMUSG00000030259
AA Change: S129P
| 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: ENSMUST00000058538
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111704
AA Change: S129P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107333
Gene: ENSMUSG00000030259
AA Change: S129P
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11b |
C |
A |
3: 35,868,233 (GRCm39) |
T635K |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Btla |
G |
T |
16: 45,059,503 (GRCm39) |
C69F |
probably damaging |
Het |
| Cdh10 |
T |
G |
15: 19,013,484 (GRCm39) |
L695V |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,301,609 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
G |
1: 80,510,149 (GRCm39) |
N1560H |
probably damaging |
Het |
| Ephb6 |
C |
A |
6: 41,595,669 (GRCm39) |
H809Q |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Gdf7 |
A |
G |
12: 8,348,050 (GRCm39) |
S416P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,225,725 (GRCm39) |
M611V |
probably benign |
Het |
| Lypd8l |
A |
G |
11: 58,501,603 (GRCm39) |
C127R |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,994,002 (GRCm39) |
E504G |
probably damaging |
Het |
| Mrps30 |
G |
A |
13: 118,521,808 (GRCm39) |
P231S |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,565 (GRCm39) |
D256G |
probably benign |
Het |
| Pramel5 |
T |
C |
4: 144,000,310 (GRCm39) |
M89V |
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,080,044 (GRCm39) |
T386A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 137,993,890 (GRCm39) |
V1180A |
possibly damaging |
Het |
| Rbm6 |
A |
G |
9: 107,656,796 (GRCm39) |
Y994H |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc2a4 |
A |
G |
11: 69,836,451 (GRCm39) |
F222S |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,854 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
G |
14: 123,209,315 (GRCm39) |
N110T |
probably damaging |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Umad1 |
T |
A |
6: 8,427,078 (GRCm39) |
D110E |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,060,891 (GRCm39) |
|
probably benign |
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 |
|
|
IGL03017:Rassf8
|
APN |
6 |
145,762,924 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGTGACGTGCAGCTCATC -3'
(R):5'- TCCAGGCTACAGCTGTACTTC -3'
Sequencing Primer
(F):5'- AGCTCATCTTGCGTCGGACTG -3'
(R):5'- AGAACCGGATCTCTGCCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation