Incidental Mutation 'R4489:Rnf13'
| ID |
330622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf13
|
| Ensembl Gene |
ENSMUSG00000036503 |
| Gene Name |
ring finger protein 13 |
| Synonyms |
2010001H16Rik, Rzf |
| MMRRC Submission |
041745-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4489 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 95.0%
|
| Validation Efficiency |
94% (50/53) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,734,086 (GRCm39) |
A754V |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,165,479 (GRCm39) |
N582S |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,924,553 (GRCm39) |
T425S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Cand2 |
A |
G |
6: 115,766,427 (GRCm39) |
D344G |
probably damaging |
Het |
| Clta |
T |
G |
4: 44,032,417 (GRCm39) |
F198V |
probably damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Csmd2 |
G |
A |
4: 128,275,738 (GRCm39) |
V826M |
possibly damaging |
Het |
| Dnah11 |
C |
T |
12: 117,880,631 (GRCm39) |
V3830I |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,319 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gbp4 |
T |
A |
5: 105,269,773 (GRCm39) |
T352S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,548 (GRCm39) |
D1076G |
probably damaging |
Het |
| Gm21370 |
T |
A |
13: 120,488,378 (GRCm39) |
Y57F |
probably benign |
Het |
| Gm6489 |
A |
G |
1: 31,326,320 (GRCm39) |
|
noncoding transcript |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,424,320 (GRCm39) |
I660R |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,551,501 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
A |
8: 69,588,347 (GRCm39) |
K536N |
possibly damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,063,928 (GRCm39) |
N49K |
probably benign |
Het |
| Mzt1 |
T |
C |
14: 99,273,926 (GRCm39) |
*42W |
probably null |
Het |
| Nkx3-2 |
T |
G |
5: 41,919,304 (GRCm39) |
Q228P |
probably damaging |
Het |
| Nufip2 |
T |
G |
11: 77,577,055 (GRCm39) |
M1R |
probably null |
Het |
| Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
| Or4c116 |
T |
C |
2: 88,941,916 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,969 (GRCm39) |
Q533K |
possibly damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,809 (GRCm39) |
E285G |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Potefam1 |
A |
G |
2: 111,051,047 (GRCm39) |
Y250H |
probably benign |
Het |
| Rgs21 |
T |
C |
1: 144,395,613 (GRCm39) |
T92A |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,703,282 (GRCm39) |
Y123F |
probably benign |
Het |
| Sgf29 |
T |
C |
7: 126,263,110 (GRCm39) |
S29P |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Specc1 |
T |
G |
11: 62,042,653 (GRCm39) |
|
probably null |
Het |
| Tg |
A |
T |
15: 66,579,791 (GRCm39) |
Q1532L |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,654 (GRCm39) |
S297A |
possibly damaging |
Het |
| Txndc9 |
G |
T |
1: 38,034,871 (GRCm39) |
S11* |
probably null |
Het |
| Uggt1 |
C |
T |
1: 36,185,749 (GRCm39) |
W1478* |
probably null |
Het |
| Washc3 |
T |
C |
10: 88,051,893 (GRCm39) |
V87A |
probably benign |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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'- AAGTGGTTTTACAGCATCTATCCAG -3'
(R):5'- TGGTGGCAATGTATATTTCTCCCC -3'
Sequencing Primer
(F):5'- CTTTCCATCTTTAGATCACAAA -3'
(R):5'- CCTTTACCAGGCTACCAGTAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation