Incidental Mutation 'R2943:Rph3al'
| ID |
255831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rph3al
|
| Ensembl Gene |
ENSMUSG00000020847 |
| Gene Name |
rabphilin 3A-like (without C2 domains) |
| Synonyms |
LOC385671, Noc2, 6530413F01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R2943 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75721825-75829255 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 75725714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066504]
[ENSMUST00000066504]
[ENSMUST00000121287]
[ENSMUST00000121287]
|
| AlphaFold |
Q768S4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066504
|
| SMART Domains |
Protein: ENSMUSP00000064202
Gene: ENSMUSG00000020847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
45 |
159 |
5.3e-40 |
PFAM |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066504
|
| SMART Domains |
Protein: ENSMUSP00000064202
Gene: ENSMUSG00000020847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
45 |
159 |
5.3e-40 |
PFAM |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121287
|
| SMART Domains |
Protein: ENSMUSP00000113869
Gene: ENSMUSG00000020847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
45 |
159 |
5.4e-41 |
PFAM |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121287
|
| SMART Domains |
Protein: ENSMUSP00000113869
Gene: ENSMUSG00000020847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
45 |
159 |
5.4e-41 |
PFAM |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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 plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disregulation of exocytosis in both endocrine and exocrine cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
A |
T |
1: 92,934,387 (GRCm39) |
D88V |
probably damaging |
Het |
| Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
| Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,675,501 (GRCm39) |
V105I |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
| Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
| Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,284,489 (GRCm39) |
N365D |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,981,058 (GRCm39) |
S319T |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,707,415 (GRCm39) |
I276T |
probably damaging |
Het |
| Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
| Ripor3 |
T |
C |
2: 167,825,681 (GRCm39) |
H759R |
possibly damaging |
Het |
| S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
| Sstr4 |
T |
C |
2: 148,238,085 (GRCm39) |
V232A |
probably damaging |
Het |
| Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
| Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
Het |
|
| Other mutations in Rph3al |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
continental
|
UTSW |
11 |
75,799,810 (GRCm39) |
nonsense |
probably null |
|
|
R0472:Rph3al
|
UTSW |
11 |
75,799,795 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0565:Rph3al
|
UTSW |
11 |
75,724,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0609:Rph3al
|
UTSW |
11 |
75,799,795 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1606:Rph3al
|
UTSW |
11 |
75,797,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2340:Rph3al
|
UTSW |
11 |
75,724,258 (GRCm39) |
missense |
probably benign |
|
|
R2520:Rph3al
|
UTSW |
11 |
75,797,373 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4753:Rph3al
|
UTSW |
11 |
75,799,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Rph3al
|
UTSW |
11 |
75,797,372 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6699:Rph3al
|
UTSW |
11 |
75,791,663 (GRCm39) |
intron |
probably benign |
|
|
R6711:Rph3al
|
UTSW |
11 |
75,799,810 (GRCm39) |
nonsense |
probably null |
|
|
R6965:Rph3al
|
UTSW |
11 |
75,745,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8953:Rph3al
|
UTSW |
11 |
75,797,401 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTGGAGAAGCTGCCAC -3'
(R):5'- CTTCACTAATGGTGCTGGCC -3'
Sequencing Primer
(F):5'- TGGAGAAGCTGCCACCAAAG -3'
(R):5'- CATGTGTGGGGTCCATCCTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation