Incidental Mutation 'IGL02394:Rph3a'
| ID |
293949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rph3a
|
| Ensembl Gene |
ENSMUSG00000029608 |
| Gene Name |
rabphilin 3A |
| Synonyms |
Doc2 family, 2900002P20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121078562-121148155 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 121084411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079204]
[ENSMUST00000202326]
[ENSMUST00000202406]
|
| AlphaFold |
P47708 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079204
|
| SMART Domains |
Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
|
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
|
C2
|
395 |
500 |
2.93e-22 |
SMART |
|
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202326
|
| SMART Domains |
Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
|
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
|
C2
|
395 |
500 |
2.93e-22 |
SMART |
|
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202406
|
| SMART Domains |
Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
|
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
|
C2
|
395 |
500 |
2.93e-22 |
SMART |
|
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
| 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 is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
G |
A |
1: 176,886,985 (GRCm39) |
T288M |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,489,812 (GRCm39) |
|
probably benign |
Het |
| Bclaf3 |
A |
G |
X: 158,338,485 (GRCm39) |
Y444C |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,459 (GRCm39) |
T166A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,779,318 (GRCm39) |
T776I |
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,337,179 (GRCm39) |
L12P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,911,609 (GRCm39) |
I164V |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,170,162 (GRCm39) |
L155M |
probably damaging |
Het |
| Fbxl20 |
G |
A |
11: 98,004,082 (GRCm39) |
R69W |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gemin2 |
T |
A |
12: 59,060,842 (GRCm39) |
|
probably null |
Het |
| Gm20521 |
T |
A |
14: 55,135,499 (GRCm39) |
Y175N |
probably damaging |
Het |
| Gm3298 |
T |
A |
14: 5,018,778 (GRCm38) |
C178S |
probably benign |
Het |
| Gpr37l1 |
T |
C |
1: 135,094,746 (GRCm39) |
N166S |
probably damaging |
Het |
| Gpr45 |
A |
G |
1: 43,069,272 (GRCm39) |
|
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,842,190 (GRCm39) |
I365T |
possibly damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,707,729 (GRCm39) |
R22G |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,443,256 (GRCm39) |
|
probably benign |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Klk1b24 |
A |
G |
7: 43,841,294 (GRCm39) |
D209G |
possibly damaging |
Het |
| Med13l |
A |
C |
5: 118,886,898 (GRCm39) |
T1600P |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,409,996 (GRCm39) |
H137Q |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,090,805 (GRCm39) |
E870G |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,497 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,228 (GRCm39) |
N174D |
probably damaging |
Het |
| Or6c215 |
A |
T |
10: 129,638,182 (GRCm39) |
F71I |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,269,710 (GRCm39) |
K3278R |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,328,664 (GRCm39) |
N380D |
probably benign |
Het |
| Rpgr |
A |
C |
X: 10,032,456 (GRCm39) |
S582R |
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,087,859 (GRCm39) |
H140R |
probably benign |
Het |
| Stoml3 |
C |
A |
3: 53,405,540 (GRCm39) |
|
probably benign |
Het |
| Teddm1a |
A |
C |
1: 153,767,545 (GRCm39) |
D3A |
probably benign |
Het |
| Tmem207 |
A |
G |
16: 26,335,586 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
T |
A |
8: 43,591,629 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Usp5 |
G |
A |
6: 124,799,672 (GRCm39) |
T274M |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,187,671 (GRCm39) |
|
probably benign |
Het |
| Wdr5b |
A |
G |
16: 35,862,633 (GRCm39) |
N251D |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,235,375 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rph3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02281:Rph3a
|
APN |
5 |
121,086,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:Rph3a
|
APN |
5 |
121,102,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Rph3a
|
APN |
5 |
121,118,187 (GRCm39) |
splice site |
probably null |
|
|
IGL02825:Rph3a
|
APN |
5 |
121,083,509 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0282:Rph3a
|
UTSW |
5 |
121,101,973 (GRCm39) |
nonsense |
probably null |
|
|
R0325:Rph3a
|
UTSW |
5 |
121,081,127 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0402:Rph3a
|
UTSW |
5 |
121,080,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0648:Rph3a
|
UTSW |
5 |
121,097,333 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1807:Rph3a
|
UTSW |
5 |
121,083,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2273:Rph3a
|
UTSW |
5 |
121,111,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2519:Rph3a
|
UTSW |
5 |
121,092,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2865:Rph3a
|
UTSW |
5 |
121,085,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Rph3a
|
UTSW |
5 |
121,118,212 (GRCm39) |
splice site |
probably benign |
|
|
R3153:Rph3a
|
UTSW |
5 |
121,111,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Rph3a
|
UTSW |
5 |
121,111,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Rph3a
|
UTSW |
5 |
121,092,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4949:Rph3a
|
UTSW |
5 |
121,101,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Rph3a
|
UTSW |
5 |
121,101,906 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5008:Rph3a
|
UTSW |
5 |
121,083,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Rph3a
|
UTSW |
5 |
121,092,512 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5155:Rph3a
|
UTSW |
5 |
121,086,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5497:Rph3a
|
UTSW |
5 |
121,080,253 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5931:Rph3a
|
UTSW |
5 |
121,101,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6273:Rph3a
|
UTSW |
5 |
121,083,485 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7630:Rph3a
|
UTSW |
5 |
121,081,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Rph3a
|
UTSW |
5 |
121,099,339 (GRCm39) |
missense |
probably benign |
|
|
R8210:Rph3a
|
UTSW |
5 |
121,099,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8294:Rph3a
|
UTSW |
5 |
121,099,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Rph3a
|
UTSW |
5 |
121,111,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Rph3a
|
UTSW |
5 |
121,100,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8758:Rph3a
|
UTSW |
5 |
121,097,365 (GRCm39) |
missense |
probably benign |
|
|
R9147:Rph3a
|
UTSW |
5 |
121,086,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9148:Rph3a
|
UTSW |
5 |
121,086,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9157:Rph3a
|
UTSW |
5 |
121,101,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Rph3a
|
UTSW |
5 |
121,086,005 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9520:Rph3a
|
UTSW |
5 |
121,101,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Rph3a
|
UTSW |
5 |
121,100,521 (GRCm39) |
missense |
probably benign |
0.08 |
|
RF017:Rph3a
|
UTSW |
5 |
121,100,562 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Rph3a
|
UTSW |
5 |
121,099,338 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Rph3a
|
UTSW |
5 |
121,080,329 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation