Incidental Mutation 'R0619:Rnf6'
ID |
58527 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf6
|
Ensembl Gene |
ENSMUSG00000029634 |
Gene Name |
ring finger protein (C3H2C3 type) 6 |
Synonyms |
5730419H05Rik, 1200013I08Rik |
MMRRC Submission |
038808-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.778)
|
Stock # |
R0619 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
146146003-146158267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 146147531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 496
(R496C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067837]
[ENSMUST00000159074]
[ENSMUST00000161331]
[ENSMUST00000161574]
[ENSMUST00000161859]
[ENSMUST00000169407]
|
AlphaFold |
Q9DBU5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067837
AA Change: R496C
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000067559 Gene: ENSMUSG00000029634 AA Change: R496C
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 |
possibly damaging
Transcript: ENSMUST00000161859
AA Change: R496C
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124293 Gene: ENSMUSG00000029634 AA Change: R496C
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 |
possibly damaging
Transcript: ENSMUST00000169407
AA Change: R496C
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128774 Gene: ENSMUSG00000029634 AA Change: R496C
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: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
G |
A |
8: 120,339,739 (GRCm39) |
D74N |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,127,679 (GRCm39) |
V573D |
possibly damaging |
Het |
Ak7 |
A |
G |
12: 105,699,770 (GRCm39) |
K230E |
probably damaging |
Het |
Amdhd2 |
T |
C |
17: 24,375,562 (GRCm39) |
D375G |
possibly damaging |
Het |
Anpep |
T |
C |
7: 79,490,757 (GRCm39) |
E253G |
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,661,725 (GRCm39) |
L158S |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,174,366 (GRCm39) |
T2057A |
probably benign |
Het |
C2 |
G |
T |
17: 35,091,479 (GRCm39) |
H61Q |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,328,282 (GRCm39) |
K661E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,269,556 (GRCm39) |
V655I |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,956,226 (GRCm39) |
T238A |
probably damaging |
Het |
Ces2a |
T |
A |
8: 105,462,742 (GRCm39) |
N110K |
probably benign |
Het |
Crat |
T |
C |
2: 30,299,996 (GRCm39) |
D128G |
probably benign |
Het |
Dclre1a |
A |
T |
19: 56,533,841 (GRCm39) |
M233K |
probably benign |
Het |
Dsg4 |
T |
C |
18: 20,594,416 (GRCm39) |
V515A |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,534,784 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,226,074 (GRCm39) |
D1863G |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,774,484 (GRCm39) |
L57Q |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,647,388 (GRCm39) |
|
probably null |
Het |
Kcnn3 |
A |
C |
3: 89,559,337 (GRCm39) |
T536P |
probably damaging |
Het |
Kctd3 |
T |
C |
1: 188,710,840 (GRCm39) |
D441G |
probably damaging |
Het |
Kifc3 |
G |
A |
8: 95,829,293 (GRCm39) |
T528M |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,503,914 (GRCm39) |
T3798I |
probably benign |
Het |
Map1a |
T |
A |
2: 121,135,736 (GRCm39) |
M1946K |
probably damaging |
Het |
Mfhas1 |
T |
A |
8: 36,057,829 (GRCm39) |
V768E |
probably benign |
Het |
Mroh8 |
C |
A |
2: 157,107,001 (GRCm39) |
V223F |
possibly damaging |
Het |
Mss51 |
A |
T |
14: 20,537,641 (GRCm39) |
V30E |
probably benign |
Het |
Mtmr10 |
G |
A |
7: 63,970,961 (GRCm39) |
R392H |
probably benign |
Het |
Mup3 |
T |
C |
4: 62,004,198 (GRCm39) |
N105S |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,453,642 (GRCm39) |
M22T |
probably benign |
Het |
Or1o2 |
T |
A |
17: 37,543,046 (GRCm39) |
I72F |
possibly damaging |
Het |
Or2aj5 |
T |
A |
16: 19,425,022 (GRCm39) |
Y132F |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
Os9 |
A |
G |
10: 126,956,860 (GRCm39) |
I43T |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,347,234 (GRCm39) |
L200P |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,548,198 (GRCm39) |
V100M |
possibly damaging |
Het |
Rsad1 |
C |
T |
11: 94,433,465 (GRCm39) |
R407Q |
probably damaging |
Het |
Rspo3 |
T |
C |
10: 29,380,633 (GRCm39) |
D127G |
probably damaging |
Het |
Sbf2 |
T |
A |
7: 109,909,469 (GRCm39) |
T1760S |
possibly damaging |
Het |
Sh2d3c |
T |
A |
2: 32,643,037 (GRCm39) |
V588E |
probably damaging |
Het |
Siglech |
A |
T |
7: 55,418,910 (GRCm39) |
T238S |
probably benign |
Het |
Slc15a2 |
T |
A |
16: 36,579,669 (GRCm39) |
N328I |
probably damaging |
Het |
Slc16a11 |
G |
T |
11: 70,105,858 (GRCm39) |
G94C |
probably damaging |
Het |
Stub1 |
T |
C |
17: 26,050,296 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
A |
7: 130,318,483 (GRCm39) |
V40D |
probably damaging |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,262,088 (GRCm39) |
|
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,705,890 (GRCm39) |
E69G |
probably damaging |
Het |
Tsks |
A |
G |
7: 44,600,258 (GRCm39) |
E150G |
probably damaging |
Het |
Ubap2l |
A |
C |
3: 89,924,527 (GRCm39) |
V680G |
probably benign |
Het |
Usp16 |
A |
T |
16: 87,269,052 (GRCm39) |
H315L |
probably benign |
Het |
Vav2 |
A |
G |
2: 27,186,133 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
C |
10: 115,256,715 (GRCm39) |
F1562L |
possibly damaging |
Het |
Zfp764 |
C |
A |
7: 127,005,713 (GRCm39) |
V22L |
probably benign |
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 |
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 |
|
R8433:Rnf6
|
UTSW |
5 |
146,148,088 (GRCm39) |
missense |
probably damaging |
0.96 |
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'- ACGTAGTCACTGATGCACACGC -3'
(R):5'- ACGTGAGCACCATCACAGTTCC -3'
Sequencing Primer
(F):5'- AGAATGGGTAATGTTCCAGCCTC -3'
(R):5'- CTCTTCGCAGGATTTCTGAGAATG -3'
|
Posted On |
2013-07-11 |