Incidental Mutation 'R5309:Rnf5'
| ID |
404748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf5
|
| Ensembl Gene |
ENSMUSG00000015478 |
| Gene Name |
ring finger protein 5 |
| Synonyms |
2410131O05Rik |
| MMRRC Submission |
042892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.766)
|
| Stock # |
R5309 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34820073-34822535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34820562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 175
(F175S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015596]
[ENSMUST00000015622]
[ENSMUST00000037489]
[ENSMUST00000038149]
[ENSMUST00000174041]
[ENSMUST00000173973]
[ENSMUST00000174069]
[ENSMUST00000173992]
[ENSMUST00000173242]
[ENSMUST00000174228]
[ENSMUST00000173328]
[ENSMUST00000174496]
|
| AlphaFold |
O35445 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015596
|
| SMART Domains |
Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
117 |
2.44e-7 |
SMART |
|
Pfam:C2-set_2
|
123 |
217 |
4.3e-24 |
PFAM |
|
IGc2
|
248 |
306 |
7.63e-18 |
SMART |
|
transmembrane domain
|
339 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015622
AA Change: F175S
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478
AA Change: F175S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
RING
|
27 |
67 |
1.5e-8 |
SMART |
|
transmembrane domain
|
118 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
160 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037489
|
| SMART Domains |
Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
210 |
4.64e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038149
|
| SMART Domains |
Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
49 |
N/A |
INTRINSIC |
|
Pfam:PBC
|
50 |
243 |
1.3e-97 |
PFAM |
|
HOX
|
244 |
309 |
1.9e-18 |
SMART |
|
low complexity region
|
327 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172932
|
| SMART Domains |
Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173589
|
| SMART Domains |
Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174475
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174640
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174041
|
| SMART Domains |
Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
198 |
6.63e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173973
|
| SMART Domains |
Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174069
|
| SMART Domains |
Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
117 |
2.44e-7 |
SMART |
|
Pfam:C2-set_2
|
123 |
217 |
2.5e-24 |
PFAM |
|
IGc2
|
248 |
306 |
7.63e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173992
|
| SMART Domains |
Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
108 |
3.23e-7 |
SMART |
|
Pfam:C2-set_2
|
114 |
208 |
3.3e-24 |
PFAM |
|
IGc2
|
239 |
297 |
7.63e-18 |
SMART |
|
transmembrane domain
|
321 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173242
|
| SMART Domains |
Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
Pfam:Acyltransferase
|
80 |
149 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174228
|
| SMART Domains |
Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173328
|
| SMART Domains |
Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
161 |
5e-84 |
PFAM |
|
HOX
|
162 |
227 |
1.9e-18 |
SMART |
|
low complexity region
|
245 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174496
|
| SMART Domains |
Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
117 |
2.44e-7 |
SMART |
|
Pfam:C2-set_2
|
123 |
217 |
3.4e-24 |
PFAM |
|
IGc2
|
248 |
306 |
7.63e-18 |
SMART |
|
transmembrane domain
|
330 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184846
|
| Meta Mutation Damage Score |
0.0801 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]
PHENOTYPE: When subjected to muscle damage by cardiotoxin treatment, mice homozygous for a targeted null mutation display attenuated muscle regeneration associated with a delayed ER stress response. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(14) : Targeted, knock-out(2) Gene trapped(12) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,540 (GRCm39) |
Q72R |
unknown |
Het |
| Abca15 |
T |
C |
7: 119,944,592 (GRCm39) |
V409A |
probably damaging |
Het |
| Abcg3 |
A |
C |
5: 105,084,465 (GRCm39) |
C577G |
possibly damaging |
Het |
| Adamtsl5 |
A |
T |
10: 80,180,982 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,492 (GRCm39) |
V388I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,753,417 (GRCm39) |
Q288R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,265,652 (GRCm39) |
T232A |
probably damaging |
Het |
| Cfap210 |
T |
C |
2: 69,617,602 (GRCm39) |
T60A |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,666,249 (GRCm39) |
E1093V |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,518,360 (GRCm39) |
L343Q |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,574,110 (GRCm39) |
H258R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,793 (GRCm39) |
I192F |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,138,617 (GRCm39) |
V266E |
probably damaging |
Het |
| Egfr |
G |
A |
11: 16,861,703 (GRCm39) |
G1161S |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,774,207 (GRCm39) |
V201A |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,195,853 (GRCm39) |
E28* |
probably null |
Het |
| Fam118a |
C |
T |
15: 84,934,956 (GRCm39) |
T195M |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,003,019 (GRCm39) |
F613L |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,346,178 (GRCm39) |
R219K |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,639 (GRCm39) |
E1285V |
probably benign |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,501 (GRCm39) |
S39P |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,970,481 (GRCm39) |
|
probably benign |
Het |
| Klc1 |
A |
G |
12: 111,762,055 (GRCm39) |
K575R |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,634 (GRCm39) |
V689A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,559 (GRCm39) |
V825E |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,792,715 (GRCm39) |
|
probably benign |
Het |
| Myog |
A |
G |
1: 134,218,064 (GRCm39) |
K91E |
probably damaging |
Het |
| Nfil3 |
A |
T |
13: 53,121,656 (GRCm39) |
V416E |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,563,176 (GRCm39) |
E1314* |
probably null |
Het |
| Or4g17 |
T |
C |
2: 111,210,179 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or4k35 |
T |
G |
2: 111,100,655 (GRCm39) |
D19A |
probably benign |
Het |
| Or6c66b |
A |
C |
10: 129,377,134 (GRCm39) |
M243L |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,337,383 (GRCm39) |
V210E |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,418 (GRCm39) |
V275E |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,923,352 (GRCm39) |
S520P |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,573,147 (GRCm39) |
|
probably null |
Het |
| Proz |
T |
C |
8: 13,111,049 (GRCm39) |
L7P |
probably damaging |
Het |
| Ptpn13 |
G |
A |
5: 103,688,919 (GRCm39) |
S904N |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,664,389 (GRCm39) |
L322P |
probably damaging |
Het |
| Sema4a |
G |
A |
3: 88,344,343 (GRCm39) |
S636F |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,676,708 (GRCm39) |
D193G |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 53,976,164 (GRCm39) |
V18A |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,756,958 (GRCm39) |
C269S |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,830 (GRCm39) |
E651G |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,194,324 (GRCm39) |
Q956* |
probably null |
Het |
| Spg21 |
A |
G |
9: 65,376,084 (GRCm39) |
I31V |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,730,716 (GRCm39) |
K268E |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,400,155 (GRCm39) |
E996G |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,663,380 (GRCm39) |
D184G |
probably benign |
Het |
| Tmem45a2 |
T |
C |
16: 56,859,370 (GRCm39) |
D287G |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,603,513 (GRCm39) |
D627E |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,880 (GRCm39) |
I94N |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,296 (GRCm39) |
N139I |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,956 (GRCm39) |
I301F |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,412,799 (GRCm39) |
I629T |
probably damaging |
Het |
| Zfp949 |
A |
C |
9: 88,449,236 (GRCm39) |
T14P |
possibly damaging |
Het |
|
| Other mutations in Rnf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Rnf5
|
APN |
17 |
34,821,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
N/A - 535:Rnf5
|
UTSW |
17 |
34,822,330 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
PIT1430001:Rnf5
|
UTSW |
17 |
34,822,341 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3034:Rnf5
|
UTSW |
17 |
34,822,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3785:Rnf5
|
UTSW |
17 |
34,820,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4842:Rnf5
|
UTSW |
17 |
34,820,977 (GRCm39) |
unclassified |
probably benign |
|
|
R5312:Rnf5
|
UTSW |
17 |
34,820,562 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5610:Rnf5
|
UTSW |
17 |
34,820,712 (GRCm39) |
unclassified |
probably benign |
|
|
R6432:Rnf5
|
UTSW |
17 |
34,821,101 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6454:Rnf5
|
UTSW |
17 |
34,821,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7604:Rnf5
|
UTSW |
17 |
34,820,638 (GRCm39) |
missense |
probably benign |
|
|
R9233:Rnf5
|
UTSW |
17 |
34,822,326 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9620:Rnf5
|
UTSW |
17 |
34,820,721 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0028:Rnf5
|
UTSW |
17 |
34,820,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGGCACTCCCATCTTAAG -3'
(R):5'- TTCACCACCGTGTTCAATGC -3'
Sequencing Primer
(F):5'- TAAGCAGACTGGTCACTCCTCG -3'
(R):5'- TGCCCATGAACCTTTCAGAAGAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation