Incidental Mutation 'R1260:Rassf9'
| ID |
151579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf9
|
| Ensembl Gene |
ENSMUSG00000044921 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 |
| Synonyms |
Pamci |
| MMRRC Submission |
039327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R1260 (G1)
|
| Quality Score |
85 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
102348083-102385597 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 102348446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055355]
[ENSMUST00000219445]
|
| AlphaFold |
Q8K342 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055355
|
| SMART Domains |
Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
23 |
119 |
5.33e-18 |
SMART |
|
coiled coil region
|
261 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220230
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.6%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl9 |
T |
C |
11: 49,060,371 (GRCm39) |
E374G |
probably damaging |
Het |
| Car2 |
G |
A |
3: 14,960,640 (GRCm39) |
A133T |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,395,544 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,021,330 (GRCm39) |
H462R |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,604,072 (GRCm39) |
K402R |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,225,908 (GRCm39) |
I478F |
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,934,594 (GRCm39) |
T311S |
probably benign |
Het |
| Pdp2 |
T |
C |
8: 105,321,249 (GRCm39) |
V366A |
probably damaging |
Het |
| Plin4 |
A |
T |
17: 56,411,348 (GRCm39) |
C894* |
probably null |
Het |
| Plxnc1 |
A |
G |
10: 94,667,227 (GRCm39) |
V1149A |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,873,846 (GRCm39) |
D984G |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,826,204 (GRCm39) |
S675P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCGCAGTTCAAAGTTAGGCAG -3'
(R):5'- CGGGATACGTCCATCGTCAATACAG -3'
Sequencing Primer
(F):5'- CTGCTAATGAGCTTGAAAGCAAGG -3'
(R):5'- CTCGCCAAACAGTTCTCATC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation