Incidental Mutation 'R1429:Rassf8'
| ID |
161437 |
| 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 |
039485-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.742)
|
| Stock # |
R1429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145692474-145766805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 145760916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 81
(G81W)
|
| 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: G81W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032388
Gene: ENSMUSG00000030259
AA Change: G81W
| 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: G81W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107333
Gene: ENSMUSG00000030259
AA Change: G81W
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Alg8 |
C |
T |
7: 97,039,499 (GRCm39) |
A410V |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,849,420 (GRCm39) |
Y481C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,418,260 (GRCm39) |
V56A |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,159,512 (GRCm39) |
I23T |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,656,900 (GRCm39) |
I3051V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,238,364 (GRCm39) |
I66N |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,482,847 (GRCm39) |
T74I |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,328,816 (GRCm39) |
D3183Y |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,523,252 (GRCm39) |
D93G |
probably damaging |
Het |
| Ess2 |
G |
A |
16: 17,720,069 (GRCm39) |
R427* |
probably null |
Het |
| Fam135a |
T |
G |
1: 24,083,348 (GRCm39) |
K292N |
probably damaging |
Het |
| Fam83b |
G |
T |
9: 76,399,859 (GRCm39) |
R415S |
probably benign |
Het |
| Fxyd3 |
T |
A |
7: 30,773,046 (GRCm39) |
M1L |
probably benign |
Het |
| Gm5134 |
T |
A |
10: 75,814,215 (GRCm39) |
M193K |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,925 (GRCm39) |
E427G |
possibly damaging |
Het |
| Gpat3 |
G |
A |
5: 101,040,953 (GRCm39) |
G338S |
probably damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,283,505 (GRCm39) |
R606Q |
probably damaging |
Het |
| Itgb1 |
T |
C |
8: 129,444,157 (GRCm39) |
|
probably null |
Het |
| Myh1 |
C |
A |
11: 67,108,736 (GRCm39) |
T1384K |
possibly damaging |
Het |
| Myo3b |
A |
C |
2: 70,083,351 (GRCm39) |
Q640P |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,596,967 (GRCm39) |
V305A |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,534,020 (GRCm39) |
D631G |
probably benign |
Het |
| Phc2 |
C |
A |
4: 128,637,348 (GRCm39) |
P51Q |
probably damaging |
Het |
| Pmel |
G |
A |
10: 128,554,861 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
G |
T |
17: 57,111,369 (GRCm39) |
Q68K |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,125,016 (GRCm39) |
L262S |
probably damaging |
Het |
| S100a16 |
A |
C |
3: 90,449,391 (GRCm39) |
Y22S |
probably damaging |
Het |
| Stx19 |
G |
A |
16: 62,642,960 (GRCm39) |
V259I |
possibly damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,663,904 (GRCm39) |
I175V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,802,031 (GRCm39) |
H90L |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,651,000 (GRCm39) |
L109Q |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,413,070 (GRCm39) |
Q1154L |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,672 (GRCm39) |
L1059P |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTCCGCTGCATTACTGATGG -3'
(R):5'- AGCACCTTCTGCCTGAACTCAGTC -3'
Sequencing Primer
(F):5'- ACTGATGGTTGCATGTCCC -3'
(R):5'- AAAAATGTCCGTCAGCCCTTTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation