Incidental Mutation 'IGL01773:Rassf9'
| ID |
153732 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rassf9
|
| Ensembl Gene |
ENSMUSG00000044921 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 |
| Synonyms |
Pamci |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL01773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
102348083-102385597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102381494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 290
(K290R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055355]
[ENSMUST00000219445]
|
| AlphaFold |
Q8K342 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055355
AA Change: K290R
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
AA Change: K290R
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
23 |
119 |
5.33e-18 |
SMART |
|
coiled coil region
|
261 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219445
AA Change: K292R
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature lethality, alopecia, lung defects, and abnormal skin morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1s |
C |
A |
1: 136,046,491 (GRCm39) |
H1775Q |
probably benign |
Het |
| Calcrl |
A |
G |
2: 84,200,787 (GRCm39) |
Y86H |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,251,208 (GRCm39) |
K401E |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,244,147 (GRCm39) |
T127A |
probably benign |
Het |
| Cpq |
T |
A |
15: 33,212,996 (GRCm39) |
F5Y |
probably benign |
Het |
| Cuzd1 |
T |
A |
7: 130,916,614 (GRCm39) |
M282L |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,430 (GRCm39) |
D635Y |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,037,252 (GRCm39) |
D382G |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,290,365 (GRCm39) |
S901P |
possibly damaging |
Het |
| Gpr179 |
G |
A |
11: 97,232,192 (GRCm39) |
R671C |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,451,504 (GRCm39) |
L219P |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,357,733 (GRCm39) |
S296P |
possibly damaging |
Het |
| Mtmr7 |
A |
T |
8: 41,034,461 (GRCm39) |
L287Q |
probably damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,230 (GRCm39) |
F105S |
probably damaging |
Het |
| Or52d13 |
T |
G |
7: 103,110,221 (GRCm39) |
M60L |
possibly damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,770 (GRCm39) |
T255A |
possibly damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,830 (GRCm39) |
I46T |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,410,155 (GRCm39) |
F130I |
probably damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,845,958 (GRCm39) |
S277R |
possibly damaging |
Het |
| Rnaseh2a |
A |
T |
8: 85,691,767 (GRCm39) |
V136D |
probably damaging |
Het |
| Rnf39 |
C |
T |
17: 37,256,328 (GRCm39) |
S140L |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,893,665 (GRCm39) |
V1212A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,101 (GRCm39) |
I50F |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,852,157 (GRCm39) |
E761V |
probably damaging |
Het |
| Sptlc1 |
A |
G |
13: 53,531,334 (GRCm39) |
Y18H |
probably damaging |
Het |
| Tfam |
A |
G |
10: 71,072,805 (GRCm39) |
M9T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,841 (GRCm39) |
L140P |
probably damaging |
Het |
| Try4 |
A |
T |
6: 41,281,960 (GRCm39) |
N182I |
probably damaging |
Het |
| Vmn1r209 |
C |
T |
13: 22,990,450 (GRCm39) |
C80Y |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,260,930 (GRCm39) |
S498T |
probably benign |
Het |
|
| Other mutations in Rassf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02396:Rassf9
|
APN |
10 |
102,381,554 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02714:Rassf9
|
APN |
10 |
102,348,424 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02987:Rassf9
|
APN |
10 |
102,381,109 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03376:Rassf9
|
APN |
10 |
102,381,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0372:Rassf9
|
UTSW |
10 |
102,381,872 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0377:Rassf9
|
UTSW |
10 |
102,381,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1260:Rassf9
|
UTSW |
10 |
102,348,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1481:Rassf9
|
UTSW |
10 |
102,381,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1563:Rassf9
|
UTSW |
10 |
102,380,821 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1894:Rassf9
|
UTSW |
10 |
102,380,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1913:Rassf9
|
UTSW |
10 |
102,380,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2115:Rassf9
|
UTSW |
10 |
102,380,806 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3149:Rassf9
|
UTSW |
10 |
102,380,687 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5072:Rassf9
|
UTSW |
10 |
102,381,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5282:Rassf9
|
UTSW |
10 |
102,381,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5804:Rassf9
|
UTSW |
10 |
102,380,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Rassf9
|
UTSW |
10 |
102,381,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Rassf9
|
UTSW |
10 |
102,381,899 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7719:Rassf9
|
UTSW |
10 |
102,381,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8944:Rassf9
|
UTSW |
10 |
102,381,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9401:Rassf9
|
UTSW |
10 |
102,348,369 (GRCm39) |
start gained |
probably benign |
|
|
R9424:Rassf9
|
UTSW |
10 |
102,381,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9720:Rassf9
|
UTSW |
10 |
102,348,369 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation