Incidental Mutation 'IGL03394:Rassf4'
ID |
421185 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rassf4
|
Ensembl Gene |
ENSMUSG00000042129 |
Gene Name |
Ras association (RalGDS/AF-6) domain family member 4 |
Synonyms |
3830411C14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL03394
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
116609969-116650797 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116618708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 192
(V192I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000203029]
[ENSMUST00000204203]
[ENSMUST00000204576]
|
AlphaFold |
Q8CB96 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035842
AA Change: V192I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048267 Gene: ENSMUSG00000042129 AA Change: V192I
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 |
noncoding transcript
Transcript: ENSMUST00000184219
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203029
AA Change: V192I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144786 Gene: ENSMUSG00000042129 AA Change: V192I
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: ENSMUST00000203634
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204313
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204576
|
SMART Domains |
Protein: ENSMUSP00000145394 Gene: ENSMUSG00000042129
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,635,277 (GRCm39) |
L242P |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,217,379 (GRCm39) |
I139V |
probably benign |
Het |
Ahr |
G |
T |
12: 35,553,751 (GRCm39) |
Y789* |
probably null |
Het |
Ankrd27 |
C |
A |
7: 35,306,523 (GRCm39) |
|
probably null |
Het |
Ano1 |
T |
C |
7: 144,149,176 (GRCm39) |
|
probably null |
Het |
Ap4e1 |
T |
A |
2: 126,905,317 (GRCm39) |
M996K |
probably benign |
Het |
Bglap |
T |
C |
3: 88,291,312 (GRCm39) |
K42E |
probably benign |
Het |
Ccdc30 |
A |
T |
4: 119,216,779 (GRCm39) |
S220R |
probably damaging |
Het |
Clic5 |
A |
G |
17: 44,548,105 (GRCm39) |
N50S |
probably benign |
Het |
Csnk2a1-ps3 |
A |
T |
1: 156,352,792 (GRCm39) |
Q331L |
probably benign |
Het |
Cyp20a1 |
T |
G |
1: 60,405,840 (GRCm39) |
D211E |
probably damaging |
Het |
Dctn1 |
G |
A |
6: 83,168,266 (GRCm39) |
V408I |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,588,020 (GRCm39) |
I551T |
probably benign |
Het |
Fat4 |
C |
T |
3: 38,946,168 (GRCm39) |
T1687M |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,063,513 (GRCm39) |
C4490S |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,815,336 (GRCm39) |
I1351N |
probably damaging |
Het |
Igkv2-116 |
T |
C |
6: 68,129,327 (GRCm39) |
|
noncoding transcript |
Het |
Iws1 |
T |
G |
18: 32,221,301 (GRCm39) |
|
probably benign |
Het |
Mlh1 |
A |
T |
9: 111,097,311 (GRCm39) |
I61N |
probably damaging |
Het |
Mtmr7 |
C |
T |
8: 41,061,972 (GRCm39) |
V38M |
probably damaging |
Het |
Myh7 |
G |
T |
14: 55,212,818 (GRCm39) |
A1409D |
probably damaging |
Het |
Myt1 |
A |
T |
2: 181,439,638 (GRCm39) |
I387F |
probably damaging |
Het |
Nars2 |
A |
G |
7: 96,689,220 (GRCm39) |
N381D |
possibly damaging |
Het |
Nsd3 |
T |
C |
8: 26,165,765 (GRCm39) |
|
probably benign |
Het |
Nup107 |
A |
G |
10: 117,617,933 (GRCm39) |
S162P |
probably damaging |
Het |
Oog2 |
T |
C |
4: 143,920,576 (GRCm39) |
F3S |
probably benign |
Het |
Or8b1b |
A |
G |
9: 38,375,517 (GRCm39) |
Y60C |
probably damaging |
Het |
Oxgr1 |
T |
C |
14: 120,260,022 (GRCm39) |
M62V |
possibly damaging |
Het |
Pcgf1 |
A |
G |
6: 83,056,121 (GRCm39) |
Y75C |
probably damaging |
Het |
Ppp3cc |
C |
A |
14: 70,462,477 (GRCm39) |
E396* |
probably null |
Het |
Ptx4 |
T |
A |
17: 25,343,649 (GRCm39) |
C300S |
probably damaging |
Het |
Rundc3b |
T |
C |
5: 8,598,261 (GRCm39) |
T203A |
possibly damaging |
Het |
Serpinb3c |
T |
C |
1: 107,199,603 (GRCm39) |
D306G |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,398 (GRCm39) |
E313G |
possibly damaging |
Het |
Snx5 |
G |
A |
2: 144,095,674 (GRCm39) |
A329V |
probably damaging |
Het |
Stx1b |
T |
C |
7: 127,407,056 (GRCm39) |
D213G |
probably damaging |
Het |
Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
Trim50 |
A |
T |
5: 135,392,807 (GRCm39) |
I241F |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,580,760 (GRCm39) |
H23378Y |
probably benign |
Het |
Vmn1r193 |
T |
A |
13: 22,403,939 (GRCm39) |
M18L |
probably benign |
Het |
Vmn1r226 |
A |
G |
17: 20,908,446 (GRCm39) |
N226S |
probably benign |
Het |
Vmn2r14 |
T |
A |
5: 109,367,702 (GRCm39) |
Q430L |
probably null |
Het |
Xirp2 |
T |
A |
2: 67,345,538 (GRCm39) |
V2593D |
probably damaging |
Het |
Zfp169 |
A |
T |
13: 48,643,400 (GRCm39) |
F576I |
possibly damaging |
Het |
Zfp667 |
T |
C |
7: 6,292,438 (GRCm39) |
|
probably null |
Het |
Zzef1 |
A |
G |
11: 72,777,601 (GRCm39) |
|
probably null |
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 |
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 |
R2369:Rassf4
|
UTSW |
6 |
116,615,258 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
|
Posted On |
2016-08-02 |