Incidental Mutation 'R5863:Rassf1'
| ID |
454014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf1
|
| Ensembl Gene |
ENSMUSG00000010067 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 1 |
| Synonyms |
Rassf1A, RDA32, REH3P21, Rassf1C, Rassf1B, 123F protein, NORE2A |
| MMRRC Submission |
043232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107428752-107439460 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107435023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 103
(P103S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010211]
[ENSMUST00000093786]
[ENSMUST00000122225]
[ENSMUST00000156198]
|
| AlphaFold |
Q99MK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010211
AA Change: P103S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067
AA Change: P103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
115 |
N/A |
INTRINSIC |
|
RA
|
124 |
218 |
6.26e-24 |
SMART |
|
PDB:4LGD|H
|
219 |
264 |
3e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093786
AA Change: P173S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067
AA Change: P173S
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
101 |
4.7e-7 |
SMART |
|
low complexity region
|
168 |
185 |
N/A |
INTRINSIC |
|
RA
|
194 |
288 |
6.26e-24 |
SMART |
|
PDB:4LGD|H
|
289 |
334 |
3e-12 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121635
|
| SMART Domains |
Protein: ENSMUSP00000113037
Gene: ENSMUSG00000010067
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
RA
|
76 |
170 |
6.26e-24 |
SMART |
|
PDB:4LGD|H
|
171 |
216 |
1e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122225
AA Change: P177S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067
AA Change: P177S
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
105 |
1.92e-3 |
SMART |
|
low complexity region
|
172 |
189 |
N/A |
INTRINSIC |
|
RA
|
198 |
292 |
6.26e-24 |
SMART |
|
Pfam:Nore1-SARAH
|
299 |
338 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144129
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156198
|
| SMART Domains |
Protein: ENSMUSP00000117722
Gene: ENSMUSG00000010067
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C1
|
44 |
83 |
6e-24 |
BLAST |
|
SCOP:d1ptq__
|
52 |
82 |
5e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous and heterozygous null mice display increased tumor incidence, especially of lung adenomas and lymphomas, and increased sensitivity to chemically induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,287 (GRCm39) |
I204T |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,575 (GRCm39) |
I136V |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,507,987 (GRCm39) |
I120T |
probably benign |
Het |
| Add3 |
C |
A |
19: 53,222,301 (GRCm39) |
L303I |
probably benign |
Het |
| Anln |
A |
G |
9: 22,249,280 (GRCm39) |
L149P |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,926 (GRCm39) |
E394G |
unknown |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
| Auh |
T |
G |
13: 53,052,694 (GRCm39) |
N141T |
probably benign |
Het |
| B3galt2 |
G |
A |
1: 143,522,104 (GRCm39) |
R80Q |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,117,666 (GRCm39) |
T343A |
probably benign |
Het |
| C3 |
T |
A |
17: 57,530,141 (GRCm39) |
I487F |
probably benign |
Het |
| Cast |
T |
C |
13: 74,884,875 (GRCm39) |
K326E |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,576,122 (GRCm39) |
H189L |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,058 (GRCm39) |
E51G |
probably damaging |
Het |
| Cpvl |
G |
A |
6: 53,850,413 (GRCm39) |
P475S |
probably damaging |
Het |
| Cstf2t |
G |
T |
19: 31,060,477 (GRCm39) |
L4F |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,303,566 (GRCm39) |
V1446A |
probably benign |
Het |
| Dlg2 |
T |
A |
7: 91,360,987 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,576,878 (GRCm39) |
L3043F |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,053,863 (GRCm39) |
S1225P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,258,810 (GRCm39) |
F1443S |
probably benign |
Het |
| Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
| Gm14226 |
C |
A |
2: 154,866,211 (GRCm39) |
T56N |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,414 (GRCm39) |
I398F |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,616,493 (GRCm39) |
R284C |
probably damaging |
Het |
| Nog |
A |
G |
11: 89,192,356 (GRCm39) |
L164P |
probably damaging |
Het |
| Or13a18 |
G |
A |
7: 140,190,544 (GRCm39) |
G155D |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,261,083 (GRCm39) |
S235P |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,590,434 (GRCm39) |
Q1771L |
possibly damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,387,593 (GRCm39) |
*193K |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,083,111 (GRCm39) |
I829N |
possibly damaging |
Het |
| Rdh16f2 |
A |
C |
10: 127,712,256 (GRCm39) |
I238L |
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,810 (GRCm39) |
D1146E |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,848,779 (GRCm39) |
F412L |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,835,824 (GRCm39) |
T768A |
unknown |
Het |
| Stk32a |
A |
G |
18: 43,448,209 (GRCm39) |
N396S |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,373 (GRCm39) |
S260P |
possibly damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,176 (GRCm39) |
|
probably null |
Het |
| Tmem30c |
A |
G |
16: 57,090,418 (GRCm39) |
V263A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,587,102 (GRCm39) |
T21632S |
probably damaging |
Het |
| Ube2w |
A |
G |
1: 16,655,531 (GRCm39) |
I141T |
probably damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,596,596 (GRCm39) |
S651G |
probably benign |
Het |
| Zscan20 |
A |
T |
4: 128,480,141 (GRCm39) |
C783* |
probably null |
Het |
|
| Other mutations in Rassf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Rassf1
|
APN |
9 |
107,435,510 (GRCm39) |
splice site |
probably benign |
|
|
R0570:Rassf1
|
UTSW |
9 |
107,435,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Rassf1
|
UTSW |
9 |
107,429,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1826:Rassf1
|
UTSW |
9 |
107,435,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2312:Rassf1
|
UTSW |
9 |
107,434,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2899:Rassf1
|
UTSW |
9 |
107,431,393 (GRCm39) |
missense |
probably null |
0.00 |
|
R3902:Rassf1
|
UTSW |
9 |
107,432,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Rassf1
|
UTSW |
9 |
107,435,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5491:Rassf1
|
UTSW |
9 |
107,438,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5733:Rassf1
|
UTSW |
9 |
107,435,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Rassf1
|
UTSW |
9 |
107,429,021 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7571:Rassf1
|
UTSW |
9 |
107,428,982 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7841:Rassf1
|
UTSW |
9 |
107,438,744 (GRCm39) |
makesense |
probably null |
|
|
R8086:Rassf1
|
UTSW |
9 |
107,435,173 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8784:Rassf1
|
UTSW |
9 |
107,435,041 (GRCm39) |
missense |
probably benign |
|
|
R8880:Rassf1
|
UTSW |
9 |
107,434,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8979:Rassf1
|
UTSW |
9 |
107,429,004 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCTATCTGTGCAGACC -3'
(R):5'- GTTCGCTCAAAGAGTGCAAAC -3'
Sequencing Primer
(F):5'- GTGCAGACCTGGCTTTACC -3'
(R):5'- AATTTTCGAAGCAGGGCCTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation