Incidental Mutation 'R8011:Rnf13'
| ID |
616898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf13
|
| Ensembl Gene |
ENSMUSG00000036503 |
| Gene Name |
ring finger protein 13 |
| Synonyms |
2010001H16Rik, Rzf |
| MMRRC Submission |
046051-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
57643483-57742654 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 57714491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 183
(Y183*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041826]
[ENSMUST00000197205]
[ENSMUST00000198214]
[ENSMUST00000198249]
[ENSMUST00000199041]
[ENSMUST00000200497]
|
| AlphaFold |
O54965 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041826
AA Change: Y183*
|
| SMART Domains |
Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: Y183*
| 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 |
probably null
Transcript: ENSMUST00000198214
AA Change: Y183*
|
| SMART Domains |
Protein: ENSMUSP00000143498
Gene: ENSMUSG00000036503
AA Change: Y183*
| 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 null
Transcript: ENSMUST00000199041
AA Change: Y183*
|
| SMART Domains |
Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503
AA Change: Y183*
| 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 |
probably null
Transcript: ENSMUST00000200497
AA Change: Y183*
|
| SMART Domains |
Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: Y183*
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
T |
9: 124,056,529 (GRCm39) |
E132K |
|
Het |
| Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,316,306 (GRCm39) |
V524A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,870,533 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
| Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,725,790 (GRCm39) |
Y400H |
probably damaging |
Het |
| Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
| Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
| Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
| Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
| Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
| Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
| Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,472 (GRCm39) |
|
probably null |
Het |
| Rgs6 |
A |
G |
12: 83,163,066 (GRCm39) |
D424G |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
| Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
| Tnk2 |
C |
T |
16: 32,487,183 (GRCm39) |
R127C |
probably benign |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
| Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
| Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
| Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
| Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly 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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTCTTAGAAAATGAGTGTGCAG -3'
(R):5'- CTTGCTCGATACAGAGAAAAGGGTTC -3'
Sequencing Primer
(F):5'- GCAGAGTATATTTGAGTTTAATGGCC -3'
(R):5'- TTCTCAGCTGGGAAAGGCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation