Incidental Mutation 'R6699:Rph3al'
| ID |
528693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rph3al
|
| Ensembl Gene |
ENSMUSG00000020847 |
| Gene Name |
rabphilin 3A-like (without C2 domains) |
| Synonyms |
LOC385671, Noc2, 6530413F01Rik |
| MMRRC Submission |
044817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6699 (G1)
|
| Quality Score |
180.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75721825-75829255 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 75791663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021208]
[ENSMUST00000066504]
[ENSMUST00000108420]
[ENSMUST00000121287]
|
| AlphaFold |
Q768S4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021208
AA Change: D136E
|
| SMART Domains |
Protein: ENSMUSP00000021208
Gene: ENSMUSG00000020847
AA Change: D136E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
45 |
121 |
4.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000108420
AA Change: D136E
|
| SMART Domains |
Protein: ENSMUSP00000104058
Gene: ENSMUSG00000020847
AA Change: D136E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
45 |
121 |
4.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
| Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
| Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
| Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,341 (GRCm39) |
D417G |
probably damaging |
Het |
| Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
| Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
| Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
| Mgat2 |
A |
G |
12: 69,231,555 (GRCm39) |
D43G |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,110,032 (GRCm39) |
Y556N |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,241 (GRCm39) |
C401S |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,262,300 (GRCm39) |
V328A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
| Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,355 (GRCm39) |
|
probably benign |
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 |
|
R2943:Rph3al
|
UTSW |
11 |
75,725,714 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- CCGGCATATTCCAATTCCCTG -3'
(R):5'- TCTGCTCAGGGTGAGGGATT -3'
Sequencing Primer
(F):5'- TGAAATGCAGACTCTGGCTC -3'
(R):5'- GCTGCTGAGCAATGGGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation