Incidental Mutation 'IGL02714:Rassf9'
| ID |
304687 |
| 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: 0.071)
|
| Stock # |
IGL02714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
102348083-102385597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102348424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 9
(L9Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055355]
[ENSMUST00000219445]
|
| AlphaFold |
Q8K342 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055355
AA Change: L9Q
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
AA Change: L9Q
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
23 |
119 |
5.33e-18 |
SMART |
|
coiled coil region
|
261 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219445
AA Change: L9Q
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220230
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
T |
A |
7: 19,492,732 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,290 (GRCm39) |
D59G |
possibly damaging |
Het |
| Ckmt2 |
A |
G |
13: 92,006,427 (GRCm39) |
M306T |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,220,542 (GRCm39) |
E744G |
probably damaging |
Het |
| Gpr139 |
T |
A |
7: 118,744,342 (GRCm39) |
D81V |
possibly damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,368 (GRCm39) |
|
probably null |
Het |
| Ly9 |
A |
G |
1: 171,432,686 (GRCm39) |
V109A |
possibly damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,346,867 (GRCm39) |
S1806T |
probably benign |
Het |
| Met |
T |
A |
6: 17,491,851 (GRCm39) |
Y204* |
probably null |
Het |
| Or8b35 |
T |
A |
9: 37,904,382 (GRCm39) |
I198N |
possibly damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,568 (GRCm39) |
S798P |
possibly damaging |
Het |
| Ppp2r5b |
C |
T |
19: 6,284,737 (GRCm39) |
R42H |
probably damaging |
Het |
| Prg2 |
T |
A |
2: 84,813,849 (GRCm39) |
I220N |
probably damaging |
Het |
| Prph |
A |
G |
15: 98,954,747 (GRCm39) |
D271G |
probably damaging |
Het |
| Rpap3 |
A |
G |
15: 97,594,458 (GRCm39) |
Y157H |
possibly damaging |
Het |
| Tacstd2 |
A |
T |
6: 67,512,053 (GRCm39) |
I213N |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,511,506 (GRCm39) |
L248P |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,260 (GRCm39) |
I1268N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,895,976 (GRCm39) |
G220D |
probably damaging |
Het |
|
| Other mutations in Rassf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01773:Rassf9
|
APN |
10 |
102,381,494 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02396:Rassf9
|
APN |
10 |
102,381,554 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
2015-04-16 |
Incidental Mutation