Incidental Mutation 'R3964:Rnf13'
ID |
312235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf13
|
Ensembl Gene |
ENSMUSG00000036503 |
Gene Name |
ring finger protein 13 |
Synonyms |
2010001H16Rik, Rzf |
MMRRC Submission |
040933-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
57643483-57742654 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57676533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 63
(G63S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041826]
[ENSMUST00000197205]
[ENSMUST00000198214]
[ENSMUST00000198249]
[ENSMUST00000198510]
[ENSMUST00000199041]
[ENSMUST00000200497]
[ENSMUST00000200600]
|
AlphaFold |
O54965 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041826
AA Change: G63S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000049331 Gene: ENSMUSG00000036503 AA Change: G63S
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: G63S
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143692 Gene: ENSMUSG00000036503 AA Change: G63S
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 |
possibly damaging
Transcript: ENSMUST00000198214
AA Change: G63S
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143498 Gene: ENSMUSG00000036503 AA Change: G63S
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: G63S
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142451 Gene: ENSMUSG00000036503 AA Change: G63S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199041
AA Change: G63S
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142335 Gene: ENSMUSG00000036503 AA Change: G63S
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
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200497
AA Change: G63S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142462 Gene: ENSMUSG00000036503 AA Change: G63S
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 benign
Transcript: ENSMUST00000200600
AA Change: G63S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000142594 Gene: ENSMUSG00000036503 AA Change: G63S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3089 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (64/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
C |
A |
12: 81,607,583 (GRCm39) |
A60S |
possibly damaging |
Het |
Arpp21 |
C |
G |
9: 111,894,844 (GRCm39) |
V805L |
probably damaging |
Het |
C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
Cdh18 |
A |
T |
15: 23,474,187 (GRCm39) |
T686S |
probably benign |
Het |
Cemip |
T |
A |
7: 83,600,717 (GRCm39) |
Y968F |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
Cttnbp2nl |
T |
C |
3: 104,913,321 (GRCm39) |
K188E |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
Dhx57 |
T |
A |
17: 80,572,541 (GRCm39) |
K711* |
probably null |
Het |
Ehbp1l1 |
C |
T |
19: 5,760,601 (GRCm39) |
|
probably null |
Het |
Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
Gadl1 |
T |
C |
9: 115,794,676 (GRCm39) |
S284P |
probably damaging |
Het |
Gm14137 |
T |
A |
2: 119,005,497 (GRCm39) |
S19T |
probably benign |
Het |
Gpr141b |
A |
G |
13: 19,913,614 (GRCm39) |
|
noncoding transcript |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gsdmc2 |
A |
G |
15: 63,721,683 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,449,320 (GRCm39) |
T110A |
probably benign |
Het |
Il23r |
G |
A |
6: 67,443,281 (GRCm39) |
T274I |
probably benign |
Het |
Inhbb |
C |
A |
1: 119,345,291 (GRCm39) |
G333W |
probably damaging |
Het |
Kcnb1 |
C |
T |
2: 166,946,412 (GRCm39) |
C812Y |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,202,482 (GRCm39) |
|
probably benign |
Het |
Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
Mrs2 |
A |
G |
13: 25,185,746 (GRCm39) |
I142T |
possibly damaging |
Het |
Ms4a6b |
T |
C |
19: 11,499,098 (GRCm39) |
S71P |
probably benign |
Het |
Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,420,705 (GRCm39) |
I4191F |
possibly damaging |
Het |
Myrf |
T |
C |
19: 10,196,979 (GRCm39) |
E267G |
probably benign |
Het |
Nfatc2 |
C |
T |
2: 168,346,469 (GRCm39) |
S875N |
probably benign |
Het |
Nmi |
T |
C |
2: 51,846,081 (GRCm39) |
E67G |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
Nucb2 |
A |
G |
7: 116,128,110 (GRCm39) |
E273G |
probably damaging |
Het |
Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
Or1j4 |
A |
G |
2: 36,740,729 (GRCm39) |
T224A |
probably benign |
Het |
Or8b1b |
T |
C |
9: 38,375,979 (GRCm39) |
I214T |
probably benign |
Het |
Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
Pcdhga12 |
A |
T |
18: 37,900,254 (GRCm39) |
Q362L |
probably benign |
Het |
Peak1 |
C |
T |
9: 56,167,263 (GRCm39) |
E222K |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,825,193 (GRCm39) |
E458G |
possibly damaging |
Het |
Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
Plxdc2 |
T |
A |
2: 16,665,651 (GRCm39) |
F284I |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,250,754 (GRCm39) |
D478E |
probably benign |
Het |
Ptprd |
A |
G |
4: 75,978,073 (GRCm39) |
|
probably benign |
Het |
Ptprj |
A |
G |
2: 90,298,785 (GRCm39) |
I315T |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,497,709 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Shld2 |
T |
A |
14: 33,981,644 (GRCm39) |
Q498L |
probably damaging |
Het |
Slc50a1 |
T |
C |
3: 89,176,093 (GRCm39) |
I151V |
probably benign |
Het |
Snx27 |
T |
A |
3: 94,438,613 (GRCm39) |
R207S |
probably damaging |
Het |
Sos1 |
C |
T |
17: 80,762,608 (GRCm39) |
R73H |
probably damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,059,523 (GRCm39) |
E975G |
possibly damaging |
Het |
Tbccd1 |
A |
G |
16: 22,660,523 (GRCm39) |
S98P |
probably damaging |
Het |
Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,441,981 (GRCm39) |
I206V |
possibly damaging |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Usp19 |
T |
A |
9: 108,375,228 (GRCm39) |
V818E |
probably damaging |
Het |
Wdr38 |
A |
G |
2: 38,889,362 (GRCm39) |
Y51C |
probably damaging |
Het |
Zfp456 |
T |
C |
13: 67,514,900 (GRCm39) |
T269A |
probably benign |
Het |
Zfp628 |
T |
C |
7: 4,924,744 (GRCm39) |
S989P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCTGGAGAACAGCAGATGTG -3'
(R):5'- AGATTACAGGCATGCATCACC -3'
Sequencing Primer
(F):5'- GAACAGCAGATGTGTAATGTTTTCG -3'
(R):5'- CATGCCCACAGTGAATAACTTC -3'
|
Posted On |
2015-04-29 |