Incidental Mutation 'IGL03246:Rnf13'
| ID |
414406 |
| 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 # |
IGL03246
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
57643483-57742654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57676471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 42
(E42G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041826]
[ENSMUST00000197205]
[ENSMUST00000198214]
[ENSMUST00000198249]
[ENSMUST00000198510]
[ENSMUST00000200600]
[ENSMUST00000200497]
[ENSMUST00000199041]
|
| AlphaFold |
O54965 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041826
AA Change: E42G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: E42G
| 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 |
noncoding transcript
Transcript: ENSMUST00000197131
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197205
AA Change: E42G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143692
Gene: ENSMUSG00000036503
AA Change: E42G
| 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: ENSMUST00000198214
AA Change: E42G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143498
Gene: ENSMUSG00000036503
AA Change: E42G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
63 |
160 |
5.1e-15 |
PFAM |
|
transmembrane domain
|
182 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
226 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198249
|
| SMART Domains |
Protein: ENSMUSP00000142828
Gene: ENSMUSG00000036503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
33 |
131 |
2.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198510
AA Change: E42G
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142451
Gene: ENSMUSG00000036503
AA Change: E42G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200600
AA Change: E42G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142594
Gene: ENSMUSG00000036503
AA Change: E42G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200497
AA Change: E42G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: E42G
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199041
AA Change: E42G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503
AA Change: E42G
| 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 |
noncoding transcript
Transcript: ENSMUST00000198996
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,238 (GRCm39) |
H392Q |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,076,841 (GRCm39) |
I547L |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,689,855 (GRCm39) |
H52R |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,433,842 (GRCm39) |
I979L |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,156 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
C |
A |
1: 44,206,241 (GRCm39) |
P385T |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,848 (GRCm39) |
M299I |
probably damaging |
Het |
| Flcn |
A |
T |
11: 59,684,936 (GRCm39) |
I505N |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,663,455 (GRCm39) |
T1011I |
possibly damaging |
Het |
| Klhl28 |
T |
C |
12: 65,004,060 (GRCm39) |
D151G |
probably benign |
Het |
| Klk13 |
T |
A |
7: 43,370,422 (GRCm39) |
N28K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,420 (GRCm39) |
V396A |
probably benign |
Het |
| Mageb11 |
C |
A |
X: 89,936,008 (GRCm39) |
H87Q |
probably benign |
Het |
| Magi2 |
T |
A |
5: 20,563,948 (GRCm39) |
I360K |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,459,792 (GRCm39) |
I251T |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,296,395 (GRCm39) |
I85K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,919 (GRCm39) |
C311R |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,832,506 (GRCm39) |
M1490L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,727,631 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,507,485 (GRCm39) |
K357R |
possibly damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,581,530 (GRCm39) |
T601I |
probably benign |
Het |
| Pof1b |
A |
T |
X: 111,557,817 (GRCm39) |
N366K |
probably benign |
Het |
| Prr9 |
A |
G |
3: 92,030,286 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,986,159 (GRCm39) |
A320S |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,342,490 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Sdf4 |
T |
C |
4: 156,085,154 (GRCm39) |
V163A |
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,440,301 (GRCm39) |
Q16* |
probably null |
Het |
| Srsf3-ps |
T |
A |
11: 98,516,119 (GRCm39) |
R85* |
probably null |
Het |
| Tbck |
T |
A |
3: 132,480,331 (GRCm39) |
C737S |
probably benign |
Het |
| Tra2a |
A |
T |
6: 49,226,019 (GRCm39) |
Y140* |
probably null |
Het |
| Vcpip1 |
A |
C |
1: 9,816,182 (GRCm39) |
L734V |
probably benign |
Het |
| Vmn1r87 |
G |
A |
7: 12,866,288 (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 |
|
IGL03015:Rnf13
|
APN |
3 |
57,741,165 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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