Incidental Mutation 'R3699:Rassf8'
| ID |
269917 |
| 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 |
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.742)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
145692474-145766805 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 145765802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122684
(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 |
unknown
Transcript: ENSMUST00000058538
AA Change: V44A
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,950,797 (GRCm39) |
L292P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,265,134 (GRCm39) |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,646,485 (GRCm39) |
Y479C |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
| Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,405,195 (GRCm39) |
C78F |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
Het |
| Zfyve19 |
A |
G |
2: 119,041,720 (GRCm39) |
T96A |
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 |
|
R2439:Rassf8
|
UTSW |
6 |
145,761,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACAGTGGGTTACCTCACTTTG -3'
(R):5'- CAATCTATCAAGGTCCTTACTTGC -3'
Sequencing Primer
(F):5'- CTTTACATTTTGGCTGTTAGTGTTCC -3'
(R):5'- GCAAAGATGTTCCCAGATGTTGCTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation