Incidental Mutation 'R9479:Rnf13'
| ID |
716112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf13
|
| Ensembl Gene |
ENSMUSG00000036503 |
| Gene Name |
ring finger protein 13 |
| Synonyms |
2010001H16Rik, Rzf |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
57643483-57742654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57727983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 221
(D221V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041826]
[ENSMUST00000197205]
[ENSMUST00000198214]
[ENSMUST00000199041]
[ENSMUST00000200497]
|
| AlphaFold |
O54965 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041826
AA Change: D221V
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: D221V
| 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 damaging
Transcript: ENSMUST00000198214
AA Change: D221V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143498
Gene: ENSMUSG00000036503
AA Change: D221V
| 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: D221V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503
AA Change: D221V
| 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 |
possibly damaging
Transcript: ENSMUST00000200497
AA Change: D221V
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: D221V
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
A |
G |
1: 58,177,568 (GRCm39) |
Y261C |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,047,632 (GRCm39) |
V1165A |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bhmt2 |
G |
A |
13: 93,799,833 (GRCm39) |
A201V |
probably damaging |
Het |
| Ccdc115 |
A |
T |
1: 34,476,895 (GRCm39) |
S115T |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,617,100 (GRCm39) |
V850A |
probably benign |
Het |
| Commd8 |
A |
T |
5: 72,318,350 (GRCm39) |
H144Q |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,298,262 (GRCm39) |
K701E |
unknown |
Het |
| Cyb5d2 |
A |
G |
11: 72,669,702 (GRCm39) |
C219R |
|
Het |
| Ep400 |
T |
C |
5: 110,877,730 (GRCm39) |
T835A |
unknown |
Het |
| Fam169a |
A |
G |
13: 97,246,543 (GRCm39) |
Y228C |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,250,695 (GRCm39) |
D342G |
possibly damaging |
Het |
| Fbxw21 |
A |
T |
9: 108,968,612 (GRCm39) |
C455S |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,561,625 (GRCm39) |
S190P |
probably damaging |
Het |
| Gabra5 |
A |
G |
7: 57,058,440 (GRCm39) |
I436T |
|
Het |
| Gm9767 |
G |
A |
10: 25,954,916 (GRCm39) |
G156D |
|
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gsn |
T |
C |
2: 35,186,227 (GRCm39) |
|
probably null |
Het |
| Hao1 |
A |
G |
2: 134,396,204 (GRCm39) |
S17P |
probably benign |
Het |
| Hspa1l |
A |
G |
17: 35,196,735 (GRCm39) |
N258S |
probably benign |
Het |
| Isyna1 |
C |
T |
8: 71,048,193 (GRCm39) |
R200C |
probably damaging |
Het |
| Itgb2 |
A |
T |
10: 77,396,942 (GRCm39) |
K659M |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,029 (GRCm39) |
M161T |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,962,174 (GRCm39) |
K1114N |
probably damaging |
Het |
| Lonrf1 |
G |
A |
8: 36,697,668 (GRCm39) |
R439* |
probably null |
Het |
| Lrrc26 |
C |
T |
2: 25,180,571 (GRCm39) |
P191S |
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,297,854 (GRCm39) |
I576T |
possibly damaging |
Het |
| Or10al4 |
T |
C |
17: 38,036,986 (GRCm39) |
S24P |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,285 (GRCm39) |
C107R |
possibly damaging |
Het |
| Or14j4 |
A |
G |
17: 37,920,718 (GRCm39) |
F308S |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,251,013 (GRCm39) |
F94L |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,677 (GRCm39) |
R231G |
probably damaging |
Het |
| Or7g20 |
G |
A |
9: 18,946,730 (GRCm39) |
V104I |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,217,963 (GRCm39) |
V2104A |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pgap1 |
G |
A |
1: 54,582,275 (GRCm39) |
Q191* |
probably null |
Het |
| Pglyrp3 |
A |
G |
3: 91,935,310 (GRCm39) |
I187V |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,699,571 (GRCm39) |
I2122F |
possibly damaging |
Het |
| Pold1 |
G |
A |
7: 44,191,079 (GRCm39) |
R251W |
probably damaging |
Het |
| Prr22 |
A |
G |
17: 57,078,335 (GRCm39) |
M163V |
probably benign |
Het |
| Ptprc |
A |
T |
1: 138,001,388 (GRCm39) |
N814K |
probably benign |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rbm22 |
T |
C |
18: 60,699,492 (GRCm39) |
L147P |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,657,445 (GRCm39) |
S391F |
unknown |
Het |
| Senp2 |
T |
A |
16: 21,842,398 (GRCm39) |
L154Q |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,332 (GRCm39) |
Q131R |
possibly damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,562,402 (GRCm39) |
Y314* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,666,286 (GRCm39) |
P11590Q |
unknown |
Het |
| Txnrd3 |
C |
T |
6: 89,640,084 (GRCm39) |
T266M |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,194,497 (GRCm39) |
S64G |
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 |
|
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 |
|
|
R9616:Rnf13
|
UTSW |
3 |
57,740,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGTTTTACAGCATCTATCCAG -3'
(R):5'- GGTGGCAATGTATATTTCTCCCCG -3'
Sequencing Primer
(F):5'- CTTTCCATCTTTAGATCACAAA -3'
(R):5'- CCTTTACCAGGCTACCAGTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation