Incidental Mutation 'IGL02219:Rnf13'
| ID |
285043 |
| 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 # |
IGL02219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
57643483-57742654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57703644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 116
(Y116C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041826]
[ENSMUST00000197205]
[ENSMUST00000198214]
[ENSMUST00000198249]
[ENSMUST00000200497]
[ENSMUST00000199041]
|
| AlphaFold |
O54965 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041826
AA Change: Y116C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: Y116C
| 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 damaging
Transcript: ENSMUST00000197205
AA Change: Y116C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143692
Gene: ENSMUSG00000036503
AA Change: Y116C
| 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: ENSMUST00000197783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197920
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198214
AA Change: Y116C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143498
Gene: ENSMUSG00000036503
AA Change: Y116C
| 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 damaging
Transcript: ENSMUST00000198249
AA Change: Y89C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142828
Gene: ENSMUSG00000036503
AA Change: Y89C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
33 |
131 |
2.5e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198996
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200497
AA Change: Y116C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: Y116C
| 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 |
probably damaging
Transcript: ENSMUST00000199041
AA Change: Y116C
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503
AA Change: Y116C
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
A |
T |
1: 192,515,691 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb10 |
G |
A |
8: 124,681,166 (GRCm39) |
H677Y |
probably benign |
Het |
| Ager |
T |
C |
17: 34,819,094 (GRCm39) |
V314A |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,586,683 (GRCm39) |
M158V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,107,298 (GRCm39) |
Q741* |
probably null |
Het |
| Atp1a2 |
A |
T |
1: 172,107,285 (GRCm39) |
M745K |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,656 (GRCm39) |
S577P |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,926,872 (GRCm39) |
L497P |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,780,773 (GRCm39) |
I1219N |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,083,255 (GRCm39) |
Y153N |
probably damaging |
Het |
| Cep250 |
T |
G |
2: 155,833,514 (GRCm39) |
V1812G |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,556,643 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
A |
9: 78,324,001 (GRCm39) |
M444K |
probably damaging |
Het |
| Dnm1 |
A |
T |
2: 32,213,462 (GRCm39) |
M506K |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,125,145 (GRCm39) |
H352Q |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,060 (GRCm39) |
Y1675H |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,174 (GRCm39) |
T1498A |
probably benign |
Het |
| Gcn1 |
A |
T |
5: 115,751,826 (GRCm39) |
Q2067L |
possibly damaging |
Het |
| Get4 |
G |
T |
5: 139,249,384 (GRCm39) |
|
probably null |
Het |
| Gm6370 |
G |
A |
5: 146,430,453 (GRCm39) |
A213T |
possibly damaging |
Het |
| Gpr135 |
T |
C |
12: 72,117,047 (GRCm39) |
Y240C |
probably damaging |
Het |
| Gstm5 |
T |
A |
3: 107,805,347 (GRCm39) |
L145Q |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,986 (GRCm39) |
Y355H |
probably damaging |
Het |
| Hsf2 |
A |
C |
10: 57,372,370 (GRCm39) |
K108Q |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,577,718 (GRCm39) |
N694S |
probably benign |
Het |
| Lrpap1 |
G |
A |
5: 35,253,411 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,532 (GRCm39) |
T1162A |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,540 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,477 (GRCm39) |
Y90C |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,951,368 (GRCm39) |
|
probably null |
Het |
| Nup88 |
C |
T |
11: 70,860,518 (GRCm39) |
G87D |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,317 (GRCm39) |
Y258C |
possibly damaging |
Het |
| Or7d9 |
A |
T |
9: 20,197,756 (GRCm39) |
T254S |
probably benign |
Het |
| Or9i1 |
C |
T |
19: 13,839,187 (GRCm39) |
T10M |
probably damaging |
Het |
| Pan2 |
G |
A |
10: 128,156,221 (GRCm39) |
E1133K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,635,045 (GRCm39) |
S307P |
probably damaging |
Het |
| Pdgfa |
C |
T |
5: 138,971,950 (GRCm39) |
V150I |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,875,022 (GRCm39) |
C83R |
probably damaging |
Het |
| Pla2g2c |
A |
G |
4: 138,463,319 (GRCm39) |
Y71C |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,797,107 (GRCm39) |
Q218L |
probably damaging |
Het |
| Prl8a9 |
C |
T |
13: 27,743,353 (GRCm39) |
V151I |
possibly damaging |
Het |
| Prop1 |
T |
C |
11: 50,842,911 (GRCm39) |
D92G |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,637,013 (GRCm39) |
C400R |
possibly damaging |
Het |
| Scrib |
T |
A |
15: 75,936,885 (GRCm39) |
K383* |
probably null |
Het |
| Slc44a5 |
T |
C |
3: 153,944,796 (GRCm39) |
Y138H |
possibly damaging |
Het |
| Stra6 |
G |
A |
9: 58,047,752 (GRCm39) |
V108M |
probably benign |
Het |
| Tspan10 |
G |
T |
11: 120,337,198 (GRCm39) |
A323S |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,495,687 (GRCm39) |
V347D |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 87,983,780 (GRCm39) |
L193F |
probably benign |
Het |
| Vps13d |
G |
T |
4: 144,894,716 (GRCm39) |
H457N |
probably benign |
Het |
| Vrtn |
A |
G |
12: 84,695,607 (GRCm39) |
Y119C |
probably damaging |
Het |
| Xpnpep3 |
T |
C |
15: 81,311,657 (GRCm39) |
F121S |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation