Incidental Mutation 'R8433:Rnf6'
| ID |
653855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf6
|
| Ensembl Gene |
ENSMUSG00000029634 |
| Gene Name |
ring finger protein (C3H2C3 type) 6 |
| Synonyms |
5730419H05Rik, 1200013I08Rik |
| MMRRC Submission |
067823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R8433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
146146003-146158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146148088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 310
(V310A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067837]
[ENSMUST00000159074]
[ENSMUST00000161331]
[ENSMUST00000161574]
[ENSMUST00000161859]
[ENSMUST00000169407]
|
| AlphaFold |
Q9DBU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067837
AA Change: V310A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: V310A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
530 |
N/A |
INTRINSIC |
|
RING
|
614 |
654 |
6.68e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159074
|
| SMART Domains |
Protein: ENSMUSP00000123926
Gene: ENSMUSG00000029634
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161331
|
| SMART Domains |
Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161574
|
| SMART Domains |
Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161859
AA Change: V310A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: V310A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
530 |
N/A |
INTRINSIC |
|
RING
|
614 |
654 |
6.68e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162219
|
| SMART Domains |
Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169407
AA Change: V310A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: V310A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
530 |
N/A |
INTRINSIC |
|
RING
|
614 |
654 |
6.68e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,945,918 (GRCm39) |
S90P |
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,434,539 (GRCm39) |
F268L |
probably benign |
Het |
| Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
| Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
| Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
| Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
| Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
| Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
| Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
| Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
| Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
G |
A |
5: 31,194,806 (GRCm39) |
A530V |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,170,822 (GRCm39) |
C406R |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,722,056 (GRCm39) |
E216G |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,571,597 (GRCm39) |
V387A |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
possibly damaging |
Het |
|
| Other mutations in Rnf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Rnf6
|
APN |
5 |
146,148,715 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01432:Rnf6
|
APN |
5 |
146,152,931 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01722:Rnf6
|
APN |
5 |
146,147,036 (GRCm39) |
missense |
probably benign |
|
|
IGL01866:Rnf6
|
APN |
5 |
146,147,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0141:Rnf6
|
UTSW |
5 |
146,148,645 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0551:Rnf6
|
UTSW |
5 |
146,148,205 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0619:Rnf6
|
UTSW |
5 |
146,147,531 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0685:Rnf6
|
UTSW |
5 |
146,148,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1363:Rnf6
|
UTSW |
5 |
146,148,369 (GRCm39) |
missense |
probably benign |
|
|
R1387:Rnf6
|
UTSW |
5 |
146,148,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1671:Rnf6
|
UTSW |
5 |
146,147,998 (GRCm39) |
nonsense |
probably null |
|
|
R2047:Rnf6
|
UTSW |
5 |
146,148,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2074:Rnf6
|
UTSW |
5 |
146,147,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2107:Rnf6
|
UTSW |
5 |
146,148,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2871:Rnf6
|
UTSW |
5 |
146,147,215 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2871:Rnf6
|
UTSW |
5 |
146,147,215 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2873:Rnf6
|
UTSW |
5 |
146,147,215 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2874:Rnf6
|
UTSW |
5 |
146,147,215 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4361:Rnf6
|
UTSW |
5 |
146,148,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Rnf6
|
UTSW |
5 |
146,147,339 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5437:Rnf6
|
UTSW |
5 |
146,147,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Rnf6
|
UTSW |
5 |
146,154,910 (GRCm39) |
splice site |
probably null |
|
|
R5848:Rnf6
|
UTSW |
5 |
146,147,959 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7515:Rnf6
|
UTSW |
5 |
146,148,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Rnf6
|
UTSW |
5 |
146,148,239 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7767:Rnf6
|
UTSW |
5 |
146,147,987 (GRCm39) |
nonsense |
probably null |
|
|
R7767:Rnf6
|
UTSW |
5 |
146,147,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8155:Rnf6
|
UTSW |
5 |
146,147,815 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8205:Rnf6
|
UTSW |
5 |
146,147,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8302:Rnf6
|
UTSW |
5 |
146,148,334 (GRCm39) |
missense |
probably benign |
|
|
R9561:Rnf6
|
UTSW |
5 |
146,147,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9732:Rnf6
|
UTSW |
5 |
146,152,931 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGTCCAGTGTGATTGC -3'
(R):5'- GGTAGTACTCTCAGGCAAGGTG -3'
Sequencing Primer
(F):5'- TGAGGACCTGCTAGACTCTC -3'
(R):5'- TCTCAGGCAAGGTGGACGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation