Incidental Mutation 'R0967:Rassf8'
ID |
83903 |
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 |
039096-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.742)
|
Stock # |
R0967 (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 145765676 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: I2T
|
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: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
Validation Efficiency |
100% (44/44) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
Ccrl2 |
G |
A |
9: 110,884,754 (GRCm39) |
T248M |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
Hsd17b4 |
C |
A |
18: 50,316,328 (GRCm39) |
H652N |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
Rars2 |
A |
G |
4: 34,646,587 (GRCm39) |
D284G |
probably benign |
Het |
Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
Rubcn |
C |
A |
16: 32,646,087 (GRCm39) |
E815D |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
Vmn2r51 |
T |
G |
7: 9,834,012 (GRCm39) |
H342P |
probably damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
possibly 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTACATGTCAGAGGGGTACAG -3'
(R):5'- TTGGGAAGCACACAGAGCATCG -3'
Sequencing Primer
(F):5'- TGCATATGGAGAAGTATACAGGTTC -3'
(R):5'- GGCAATGTCCAATGCTAACTG -3'
|
Posted On |
2013-11-08 |