Incidental Mutation 'IGL02987:Rassf9'
ID |
406768 |
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 # |
IGL02987
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
102348083-102385597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102381109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 164
(T164A)
|
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: T162A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000054767 Gene: ENSMUSG00000044921 AA Change: T162A
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: T164A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1e1 |
T |
C |
13: 4,643,591 (GRCm39) |
D222G |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,757,649 (GRCm39) |
Y422* |
probably null |
Het |
Asf1a |
T |
C |
10: 53,473,367 (GRCm39) |
F28L |
probably damaging |
Het |
Atp6v1c1 |
T |
A |
15: 38,690,806 (GRCm39) |
M319K |
possibly damaging |
Het |
Bsn |
A |
G |
9: 108,003,503 (GRCm39) |
S301P |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,960,391 (GRCm39) |
I281V |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,476,646 (GRCm39) |
|
probably benign |
Het |
Coq2 |
G |
A |
5: 100,811,554 (GRCm39) |
Q103* |
probably null |
Het |
Dgkh |
A |
G |
14: 78,827,312 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 65,746,098 (GRCm39) |
I4005T |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,732,099 (GRCm39) |
R4269L |
probably benign |
Het |
F2rl1 |
T |
A |
13: 95,650,741 (GRCm39) |
Q47L |
probably benign |
Het |
Fhod3 |
T |
C |
18: 25,246,610 (GRCm39) |
V1272A |
possibly damaging |
Het |
Gdpd4 |
T |
C |
7: 97,610,758 (GRCm39) |
|
probably benign |
Het |
Gfral |
A |
G |
9: 76,104,583 (GRCm39) |
V143A |
possibly damaging |
Het |
Gltp |
A |
C |
5: 114,812,243 (GRCm39) |
F88V |
probably benign |
Het |
Hectd1 |
T |
G |
12: 51,791,550 (GRCm39) |
K2565T |
probably damaging |
Het |
Jade2 |
A |
G |
11: 51,721,308 (GRCm39) |
S207P |
probably damaging |
Het |
Khdc3 |
A |
G |
9: 73,009,948 (GRCm39) |
I53V |
possibly damaging |
Het |
Lce1a1 |
T |
C |
3: 92,554,409 (GRCm39) |
T22A |
unknown |
Het |
Lgals9 |
A |
T |
11: 78,858,303 (GRCm39) |
H196Q |
possibly damaging |
Het |
Lrrc37a |
A |
T |
11: 103,391,239 (GRCm39) |
N1395K |
probably benign |
Het |
Mast1 |
C |
T |
8: 85,652,348 (GRCm39) |
V268I |
possibly damaging |
Het |
Myh11 |
T |
G |
16: 14,050,396 (GRCm39) |
E523A |
probably damaging |
Het |
Napb |
T |
C |
2: 148,539,431 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
G |
A |
7: 23,000,858 (GRCm39) |
R51H |
probably damaging |
Het |
Ola1 |
T |
C |
2: 72,987,242 (GRCm39) |
D130G |
probably benign |
Het |
Or8c13 |
A |
T |
9: 38,091,919 (GRCm39) |
S67T |
possibly damaging |
Het |
Pard3 |
G |
A |
8: 128,115,972 (GRCm39) |
C687Y |
probably damaging |
Het |
Sema3a |
A |
G |
5: 13,615,863 (GRCm39) |
Y429C |
probably damaging |
Het |
Slc25a54 |
T |
C |
3: 109,023,653 (GRCm39) |
V416A |
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,940,423 (GRCm39) |
T631A |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,952,349 (GRCm39) |
C736S |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,345,074 (GRCm39) |
S1788T |
probably damaging |
Het |
Trim42 |
A |
G |
9: 97,247,868 (GRCm39) |
V276A |
probably benign |
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 |
IGL02714:Rassf9
|
APN |
10 |
102,348,424 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
2016-08-02 |