Incidental Mutation 'R5986:Rassf1'
| ID |
481658 |
| 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 |
044166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R5986 (G1)
|
| Quality Score |
106.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107428752-107439460 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107429021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 76
(V76L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010188]
[ENSMUST00000010211]
[ENSMUST00000093786]
[ENSMUST00000122225]
[ENSMUST00000156198]
[ENSMUST00000193303]
|
| AlphaFold |
Q99MK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010188
|
| SMART Domains |
Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
394 |
430 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010211
|
| SMART Domains |
Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067
| 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 benign
Transcript: ENSMUST00000093786
AA Change: V76L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067
AA Change: V76L
| 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 benign
Transcript: ENSMUST00000122225
AA Change: V76L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067
AA Change: V76L
| 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: ENSMUST00000144129
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156198
AA Change: V76L
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117722
Gene: ENSMUSG00000010067
AA Change: V76L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C1
|
44 |
83 |
6e-24 |
BLAST |
|
SCOP:d1ptq__
|
52 |
82 |
5e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195627
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193303
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,566,145 (GRCm39) |
F992I |
probably damaging |
Het |
| Ampd1 |
T |
C |
3: 102,992,713 (GRCm39) |
F152L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,806,335 (GRCm39) |
H602R |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,797,071 (GRCm39) |
D247G |
probably damaging |
Het |
| Bccip |
T |
A |
7: 133,322,594 (GRCm39) |
H313Q |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,470,403 (GRCm39) |
L172H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,197 (GRCm39) |
E929G |
probably damaging |
Het |
| Chl1 |
C |
A |
6: 103,686,152 (GRCm39) |
L954I |
probably benign |
Het |
| Cog5 |
A |
T |
12: 31,710,716 (GRCm39) |
D32V |
probably benign |
Het |
| Cyp4f16 |
C |
A |
17: 32,763,116 (GRCm39) |
A187E |
probably benign |
Het |
| Dffb |
A |
T |
4: 154,050,050 (GRCm39) |
V271E |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,604 (GRCm39) |
Y4430C |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,385 (GRCm39) |
E229G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,909,613 (GRCm39) |
N2130Y |
probably benign |
Het |
| Kcnk3 |
T |
C |
5: 30,745,722 (GRCm39) |
V21A |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,094 (GRCm39) |
S186N |
probably benign |
Het |
| Lhfpl3 |
C |
A |
5: 22,951,424 (GRCm39) |
N78K |
probably benign |
Het |
| Ly6c1 |
A |
G |
15: 74,917,457 (GRCm39) |
S64P |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,186,446 (GRCm39) |
T59A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,140,171 (GRCm39) |
C394* |
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,063 (GRCm39) |
D168E |
possibly damaging |
Het |
| Mgat2 |
A |
T |
12: 69,232,158 (GRCm39) |
Q244L |
probably benign |
Het |
| Mrps30 |
A |
G |
13: 118,521,101 (GRCm39) |
|
probably null |
Het |
| Myrip |
C |
A |
9: 120,290,487 (GRCm39) |
A702E |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,280,168 (GRCm39) |
L420P |
probably damaging |
Het |
| Nrn1 |
A |
T |
13: 36,918,238 (GRCm39) |
Y9* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,595,081 (GRCm39) |
Y752C |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,628,496 (GRCm39) |
D520V |
probably damaging |
Het |
| Olfm2 |
C |
T |
9: 20,586,946 (GRCm39) |
C48Y |
probably damaging |
Het |
| Or52j3 |
T |
C |
7: 102,836,735 (GRCm39) |
F309S |
possibly damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,278 (GRCm39) |
N294S |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 13,038,138 (GRCm39) |
D271V |
probably damaging |
Het |
| Osmr |
G |
T |
15: 6,873,934 (GRCm39) |
D154E |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,484 (GRCm39) |
V562A |
probably damaging |
Het |
| Peak1 |
A |
C |
9: 56,166,726 (GRCm39) |
S401A |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,446,486 (GRCm39) |
H195L |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp2r1a |
C |
T |
17: 21,171,608 (GRCm39) |
R28C |
probably damaging |
Het |
| Pramel30 |
G |
T |
4: 144,059,323 (GRCm39) |
V345F |
probably damaging |
Het |
| Ptbp3 |
T |
C |
4: 59,493,311 (GRCm39) |
D123G |
probably benign |
Het |
| Ptgr2 |
G |
A |
12: 84,355,120 (GRCm39) |
E285K |
possibly damaging |
Het |
| Sec22a |
A |
G |
16: 35,134,461 (GRCm39) |
V307A |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,852,845 (GRCm39) |
V18I |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,516,151 (GRCm39) |
V109A |
probably benign |
Het |
| St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,586,074 (GRCm39) |
E602G |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,527,297 (GRCm39) |
E408G |
probably damaging |
Het |
| Tpsb2 |
G |
A |
17: 25,586,108 (GRCm39) |
V109M |
probably benign |
Het |
| Trib1 |
T |
A |
15: 59,526,451 (GRCm39) |
|
probably null |
Het |
| Trio |
G |
T |
15: 27,852,019 (GRCm39) |
A765E |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,838 (GRCm39) |
V193E |
probably damaging |
Het |
| Vmn1r115 |
G |
A |
7: 20,578,447 (GRCm39) |
P155L |
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,374,113 (GRCm39) |
L292S |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,525,462 (GRCm39) |
I127T |
probably benign |
Het |
| Yju2 |
G |
A |
17: 56,269,030 (GRCm39) |
C46Y |
probably damaging |
Het |
| Zfp442 |
G |
A |
2: 150,249,944 (GRCm39) |
Q596* |
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 |
|
R5863:Rassf1
|
UTSW |
9 |
107,435,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATTGAACTACGCGAGCTGG -3'
(R):5'- ACTAACTCTGCCCAACTGTG -3'
Sequencing Primer
(F):5'- TACGCGAGCTGGCACCG -3'
(R):5'- CCAACTGTGCACGGACAGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation