Incidental Mutation 'BB015:Rassf3'
ID |
642857 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rassf3
|
Ensembl Gene |
ENSMUSG00000025795 |
Gene Name |
Ras association (RalGDS/AF-6) domain family member 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
BB015
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121246255-121312220 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 121252984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026902]
|
AlphaFold |
Q99P51 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026902
|
SMART Domains |
Protein: ENSMUSP00000026902 Gene: ENSMUSG00000025795
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
RA
|
78 |
181 |
1.98e-3 |
SMART |
Pfam:Nore1-SARAH
|
186 |
225 |
1e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
Cntrob |
A |
G |
11: 69,191,121 (GRCm39) |
L831P |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
Gm5773 |
A |
G |
3: 93,680,997 (GRCm39) |
E223G |
probably damaging |
Het |
Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
Or52ae9 |
T |
A |
7: 103,390,397 (GRCm39) |
I17F |
probably damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,159,898 (GRCm39) |
Y826C |
possibly damaging |
Het |
Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
Sec13 |
A |
G |
6: 113,706,601 (GRCm39) |
S271P |
probably damaging |
Het |
Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
probably damaging |
Het |
|
Other mutations in Rassf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Rassf3
|
APN |
10 |
121,251,985 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01955:Rassf3
|
APN |
10 |
121,253,027 (GRCm39) |
missense |
probably damaging |
1.00 |
BB005:Rassf3
|
UTSW |
10 |
121,252,984 (GRCm39) |
splice site |
probably null |
|
R0418:Rassf3
|
UTSW |
10 |
121,253,075 (GRCm39) |
missense |
probably benign |
0.42 |
R0467:Rassf3
|
UTSW |
10 |
121,253,109 (GRCm39) |
splice site |
probably benign |
|
R1167:Rassf3
|
UTSW |
10 |
121,252,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R2906:Rassf3
|
UTSW |
10 |
121,250,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R3801:Rassf3
|
UTSW |
10 |
121,250,271 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7146:Rassf3
|
UTSW |
10 |
121,252,052 (GRCm39) |
missense |
probably benign |
0.06 |
R7257:Rassf3
|
UTSW |
10 |
121,248,924 (GRCm39) |
nonsense |
probably null |
|
R7579:Rassf3
|
UTSW |
10 |
121,312,103 (GRCm39) |
start gained |
probably benign |
|
R7928:Rassf3
|
UTSW |
10 |
121,252,984 (GRCm39) |
splice site |
probably null |
|
R8783:Rassf3
|
UTSW |
10 |
121,253,069 (GRCm39) |
missense |
probably benign |
|
R9010:Rassf3
|
UTSW |
10 |
121,311,991 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGGCTACCAGTCCTGAAAG -3'
(R):5'- AGAATCCTGGCTTATCTGCAC -3'
Sequencing Primer
(F):5'- AGTCCTGAAAGCCCCTGC -3'
(R):5'- TGGCTTATCTGCACGCTTG -3'
|
Posted On |
2020-08-01 |