Incidental Mutation 'IGL03015:Rnf13'
| ID |
407909 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf13
|
| Ensembl Gene |
ENSMUSG00000036503 |
| Gene Name |
ring finger protein 13 |
| Synonyms |
2010001H16Rik, Rzf |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
57643483-57742654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57741165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 318
(E318G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041826]
[ENSMUST00000197205]
[ENSMUST00000199041]
[ENSMUST00000200497]
|
| AlphaFold |
O54965 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041826
AA Change: E347G
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: E347G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
63 |
160 |
1.3e-14 |
PFAM |
|
transmembrane domain
|
182 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
226 |
N/A |
INTRINSIC |
|
RING
|
240 |
281 |
1.85e-8 |
SMART |
|
low complexity region
|
291 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197205
|
| SMART Domains |
Protein: ENSMUSP00000143692
Gene: ENSMUSG00000036503
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:PA
|
62 |
153 |
2.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199041
|
| SMART Domains |
Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
59 |
162 |
6.6e-15 |
PFAM |
|
transmembrane domain
|
182 |
204 |
N/A |
INTRINSIC |
|
SCOP:d1ldjb_
|
211 |
260 |
2e-7 |
SMART |
|
Blast:RING
|
240 |
267 |
5e-9 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200497
AA Change: E318G
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: E318G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
59 |
162 |
1.1e-14 |
PFAM |
|
transmembrane domain
|
182 |
204 |
N/A |
INTRINSIC |
|
SCOP:d1ldjb_
|
211 |
260 |
1e-7 |
SMART |
|
Blast:RING
|
240 |
261 |
9e-8 |
BLAST |
|
low complexity region
|
262 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
328 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the PA-TM-RING family of proteins that contain a protease associated (PA) domain and a RING finger domain separated by a transmembrane (TM) domain. The encoded protein is an E3 ubiquitin ligase localized to the endosomal-lysosomal vesicles and inner nuclear membrane. Mice lacking the encoded protein have impaired learning abilities associated with a decreased synaptic vesicle density and dysregulated SNARE complex assembly. Alternative splicing of this gene results in multiple transcript variants. A pseudogene for this gene has been identified on the X chromosome. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,708,273 (GRCm39) |
W184G |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,515 (GRCm39) |
V160A |
possibly damaging |
Het |
| Cct8 |
C |
A |
16: 87,283,553 (GRCm39) |
|
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,161,103 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,277,435 (GRCm39) |
I325V |
probably benign |
Het |
| Lipk |
A |
G |
19: 33,996,108 (GRCm39) |
T7A |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,206,504 (GRCm39) |
V55A |
probably damaging |
Het |
| Malrd1 |
A |
C |
2: 16,047,082 (GRCm39) |
D1736A |
unknown |
Het |
| Nav3 |
T |
A |
10: 109,554,158 (GRCm39) |
I1735F |
probably damaging |
Het |
| Nmbr |
T |
A |
10: 14,636,412 (GRCm39) |
V127E |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 97,979,965 (GRCm39) |
T160A |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,169,996 (GRCm39) |
M819V |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,914 (GRCm39) |
S759P |
probably damaging |
Het |
| Selenon |
T |
C |
4: 134,272,829 (GRCm39) |
N203S |
probably benign |
Het |
| Syt13 |
A |
G |
2: 92,781,725 (GRCm39) |
I309V |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,169,147 (GRCm39) |
T1096I |
probably benign |
Het |
| Vwf |
T |
G |
6: 125,661,101 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rnf13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:Rnf13
|
APN |
3 |
57,714,508 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01835:Rnf13
|
APN |
3 |
57,728,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Rnf13
|
APN |
3 |
57,703,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Rnf13
|
APN |
3 |
57,686,817 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03246:Rnf13
|
APN |
3 |
57,676,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
solomon
|
UTSW |
3 |
57,727,955 (GRCm39) |
nonsense |
probably null |
|
|
BB005:Rnf13
|
UTSW |
3 |
57,671,729 (GRCm39) |
missense |
probably benign |
0.18 |
|
BB015:Rnf13
|
UTSW |
3 |
57,671,729 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0147:Rnf13
|
UTSW |
3 |
57,709,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0481:Rnf13
|
UTSW |
3 |
57,714,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Rnf13
|
UTSW |
3 |
57,686,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1389:Rnf13
|
UTSW |
3 |
57,686,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Rnf13
|
UTSW |
3 |
57,709,907 (GRCm39) |
missense |
probably null |
0.99 |
|
R3964:Rnf13
|
UTSW |
3 |
57,676,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4444:Rnf13
|
UTSW |
3 |
57,728,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Rnf13
|
UTSW |
3 |
57,728,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4489:Rnf13
|
UTSW |
3 |
57,728,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Rnf13
|
UTSW |
3 |
57,703,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4940:Rnf13
|
UTSW |
3 |
57,703,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6233:Rnf13
|
UTSW |
3 |
57,740,391 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7002:Rnf13
|
UTSW |
3 |
57,741,033 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7622:Rnf13
|
UTSW |
3 |
57,727,955 (GRCm39) |
nonsense |
probably null |
|
|
R7652:Rnf13
|
UTSW |
3 |
57,671,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7928:Rnf13
|
UTSW |
3 |
57,671,729 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8011:Rnf13
|
UTSW |
3 |
57,714,491 (GRCm39) |
nonsense |
probably null |
|
|
R8893:Rnf13
|
UTSW |
3 |
57,714,520 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9086:Rnf13
|
UTSW |
3 |
57,740,997 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9116:Rnf13
|
UTSW |
3 |
57,709,866 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9479:Rnf13
|
UTSW |
3 |
57,727,983 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9616:Rnf13
|
UTSW |
3 |
57,740,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation