Incidental Mutation 'R2369:Rassf4'
| ID |
246428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf4
|
| Ensembl Gene |
ENSMUSG00000042129 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 4 |
| Synonyms |
3830411C14Rik |
| MMRRC Submission |
040349-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R2369 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116609969-116650797 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116615258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 304
(F304L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000203029]
|
| AlphaFold |
Q8CB96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035842
AA Change: F304L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: F304L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
RA
|
173 |
263 |
1.36e-15 |
SMART |
|
Pfam:Nore1-SARAH
|
276 |
315 |
1.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203029
|
| SMART Domains |
Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
RA
|
173 |
263 |
8.7e-18 |
SMART |
|
Pfam:Nore1-SARAH
|
276 |
303 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204313
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
A |
T |
1: 57,421,950 (GRCm39) |
N109Y |
possibly damaging |
Het |
| 9230112D13Rik |
A |
T |
14: 34,233,913 (GRCm39) |
I126N |
unknown |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Ahcyl1 |
T |
C |
3: 107,577,556 (GRCm39) |
D288G |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,408,849 (GRCm39) |
|
probably null |
Het |
| Ccdc33 |
A |
T |
9: 57,983,913 (GRCm39) |
S220T |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,496,028 (GRCm39) |
K69N |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,317,610 (GRCm39) |
R749G |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,149,030 (GRCm39) |
N207S |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Esco2 |
G |
A |
14: 66,059,189 (GRCm39) |
A496V |
probably damaging |
Het |
| Gbp5 |
A |
T |
3: 142,206,480 (GRCm39) |
M55L |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,757,962 (GRCm39) |
Y373C |
probably damaging |
Het |
| Hbs1l |
T |
A |
10: 21,183,644 (GRCm39) |
S128R |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,950,090 (GRCm39) |
M28V |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,444,512 (GRCm39) |
|
probably benign |
Het |
| Met |
G |
A |
6: 17,531,527 (GRCm39) |
V602I |
probably benign |
Het |
| Ndufaf7 |
C |
A |
17: 79,252,461 (GRCm39) |
A290E |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,804,924 (GRCm39) |
Q1593R |
probably benign |
Het |
| Npl |
A |
G |
1: 153,394,623 (GRCm39) |
|
probably null |
Het |
| Paqr6 |
T |
C |
3: 88,273,260 (GRCm39) |
L84P |
probably damaging |
Het |
| Pros1 |
A |
G |
16: 62,748,432 (GRCm39) |
Y635C |
probably damaging |
Het |
| Rad1 |
C |
A |
15: 10,486,745 (GRCm39) |
N47K |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,709,992 (GRCm39) |
V432E |
probably damaging |
Het |
| Wdr72 |
A |
G |
9: 74,117,457 (GRCm39) |
K723R |
possibly damaging |
Het |
| Xpo7 |
G |
A |
14: 70,925,171 (GRCm39) |
R493* |
probably null |
Het |
| Zfp11 |
G |
A |
5: 129,733,529 (GRCm39) |
P644L |
probably benign |
Het |
|
| Other mutations in Rassf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Rassf4
|
APN |
6 |
116,622,089 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01132:Rassf4
|
APN |
6 |
116,636,568 (GRCm39) |
splice site |
probably benign |
|
|
IGL01637:Rassf4
|
APN |
6 |
116,618,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02000:Rassf4
|
APN |
6 |
116,622,933 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02748:Rassf4
|
APN |
6 |
116,616,418 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02976:Rassf4
|
APN |
6 |
116,615,209 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03394:Rassf4
|
APN |
6 |
116,618,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Rassf4
|
UTSW |
6 |
116,624,516 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Rassf4
|
UTSW |
6 |
116,622,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Rassf4
|
UTSW |
6 |
116,616,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Rassf4
|
UTSW |
6 |
116,617,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Rassf4
|
UTSW |
6 |
116,622,088 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2916:Rassf4
|
UTSW |
6 |
116,618,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2918:Rassf4
|
UTSW |
6 |
116,618,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Rassf4
|
UTSW |
6 |
116,622,103 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5716:Rassf4
|
UTSW |
6 |
116,638,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6769:Rassf4
|
UTSW |
6 |
116,618,433 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7304:Rassf4
|
UTSW |
6 |
116,617,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7981:Rassf4
|
UTSW |
6 |
116,617,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Rassf4
|
UTSW |
6 |
116,617,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Rassf4
|
UTSW |
6 |
116,638,897 (GRCm39) |
splice site |
probably benign |
|
|
R9459:Rassf4
|
UTSW |
6 |
116,618,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9516:Rassf4
|
UTSW |
6 |
116,617,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9698:Rassf4
|
UTSW |
6 |
116,618,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGGTACCAAGACTAGAGATG -3'
(R):5'- TTTGAAGTTCTGCACAGTCCG -3'
Sequencing Primer
(F):5'- CTAGAGATGCAGGATGCTATGTC -3'
(R):5'- TCTGCACAGTCCGCTGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation