Incidental Mutation 'R4444:Rnf13'
ID |
329794 |
Institutional Source |
Beutler Lab
|
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 # |
R4444 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
57643483-57742654 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 57728010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 230
(K230T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041826]
[ENSMUST00000197205]
[ENSMUST00000198214]
[ENSMUST00000199041]
[ENSMUST00000200497]
|
AlphaFold |
O54965 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041826
AA Change: K230T
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049331 Gene: ENSMUSG00000036503 AA Change: K230T
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 damaging
Transcript: ENSMUST00000198214
AA Change: K230T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143498 Gene: ENSMUSG00000036503 AA Change: K230T
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: ENSMUST00000199041
AA Change: K230T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142335 Gene: ENSMUSG00000036503 AA Change: K230T
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 damaging
Transcript: ENSMUST00000200497
AA Change: K230T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142462 Gene: ENSMUSG00000036503 AA Change: K230T
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 |
|
Meta Mutation Damage Score |
0.1522 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
G |
T |
7: 45,785,618 (GRCm39) |
T695N |
probably benign |
Het |
Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
Cntn5 |
C |
A |
9: 9,704,947 (GRCm39) |
E822D |
probably damaging |
Het |
Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
Dlg2 |
T |
C |
7: 91,737,801 (GRCm39) |
S428P |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,821,027 (GRCm39) |
D314G |
probably benign |
Het |
Ercc5 |
GAAAA |
GAAAAA |
1: 44,197,369 (GRCm39) |
|
probably null |
Het |
Gemin4 |
A |
G |
11: 76,102,917 (GRCm39) |
F615L |
probably benign |
Het |
Ggn |
A |
G |
7: 28,871,585 (GRCm39) |
T322A |
probably benign |
Het |
Hunk |
C |
T |
16: 90,229,679 (GRCm39) |
A180V |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Myo1b |
A |
T |
1: 51,797,078 (GRCm39) |
I988N |
probably damaging |
Het |
Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
Plb1 |
G |
A |
5: 32,487,909 (GRCm39) |
V930I |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Retreg1 |
T |
G |
15: 25,968,530 (GRCm39) |
|
probably null |
Het |
Rpl9-ps1 |
T |
C |
11: 83,536,207 (GRCm39) |
I81V |
possibly damaging |
Het |
Slco1c1 |
A |
G |
6: 141,492,417 (GRCm39) |
T267A |
possibly damaging |
Het |
Spc25 |
A |
T |
2: 69,035,220 (GRCm39) |
M47K |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,069,804 (GRCm39) |
E4377G |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,385,998 (GRCm39) |
T2142A |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,968,457 (GRCm39) |
|
probably null |
Het |
Zfp169 |
T |
A |
13: 48,643,813 (GRCm39) |
K438M |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGTTTTACAGCATCTATCCAG -3'
(R):5'- TGGTGGCAATGTATATTTCTCCCC -3'
Sequencing Primer
(F):5'- CTTTCCATCTTTAGATCACAAA -3'
(R):5'- CCTTTACCAGGCTACCAGTAC -3'
|
Posted On |
2015-07-21 |