Incidental Mutation 'R8205:Rnf6'
ID |
635864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf6
|
Ensembl Gene |
ENSMUSG00000029634 |
Gene Name |
ring finger protein (C3H2C3 type) 6 |
Synonyms |
5730419H05Rik, 1200013I08Rik |
MMRRC Submission |
067628-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.778)
|
Stock # |
R8205 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
146146003-146158267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146147714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 435
(S435P)
|
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: S435P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067559 Gene: ENSMUSG00000029634 AA Change: S435P
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: S435P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124293 Gene: ENSMUSG00000029634 AA Change: S435P
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: S435P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128774 Gene: ENSMUSG00000029634 AA Change: S435P
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: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
100% (52/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
C |
8: 41,278,080 (GRCm39) |
V157A |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,117,650 (GRCm39) |
*204W |
probably null |
Het |
Add2 |
A |
G |
6: 86,063,899 (GRCm39) |
E66G |
probably damaging |
Het |
Adgrd1 |
A |
G |
5: 129,192,175 (GRCm39) |
T114A |
possibly damaging |
Het |
Aldh7a1 |
A |
T |
18: 56,678,070 (GRCm39) |
I247N |
probably damaging |
Het |
Ankrd13d |
A |
T |
19: 4,331,009 (GRCm39) |
M166K |
probably damaging |
Het |
Brd7 |
A |
G |
8: 89,070,243 (GRCm39) |
F388L |
probably damaging |
Het |
Cap2 |
G |
A |
13: 46,768,739 (GRCm39) |
V182M |
probably damaging |
Het |
Col22a1 |
A |
T |
15: 71,732,918 (GRCm39) |
V1100E |
unknown |
Het |
Cracdl |
T |
C |
1: 37,664,047 (GRCm39) |
D617G |
probably benign |
Het |
Crisp2 |
T |
C |
17: 41,095,969 (GRCm39) |
E63G |
possibly damaging |
Het |
Dst |
T |
G |
1: 34,253,685 (GRCm39) |
W2304G |
probably damaging |
Het |
Eif2a |
A |
C |
3: 58,456,156 (GRCm39) |
N385T |
probably damaging |
Het |
Eif4ebp2 |
A |
T |
10: 61,270,704 (GRCm39) |
H108Q |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,449,823 (GRCm39) |
D142G |
probably benign |
Het |
Gbp8 |
T |
A |
5: 105,198,846 (GRCm39) |
H23L |
probably benign |
Het |
Glt1d1 |
A |
G |
5: 127,768,080 (GRCm39) |
E229G |
probably benign |
Het |
Gpatch8 |
T |
C |
11: 102,371,213 (GRCm39) |
D775G |
unknown |
Het |
Heatr1 |
T |
C |
13: 12,430,928 (GRCm39) |
Y1008H |
probably benign |
Het |
Heatr5a |
T |
A |
12: 52,005,792 (GRCm39) |
N61I |
probably benign |
Het |
Hydin |
A |
T |
8: 111,319,270 (GRCm39) |
H4391L |
possibly damaging |
Het |
Ifi206 |
T |
C |
1: 173,309,450 (GRCm39) |
E182G |
|
Het |
Mbtps1 |
A |
G |
8: 120,247,077 (GRCm39) |
S789P |
probably damaging |
Het |
Mex3a |
T |
C |
3: 88,444,159 (GRCm39) |
S412P |
possibly damaging |
Het |
Msantd5f1 |
G |
A |
4: 73,605,542 (GRCm39) |
V318I |
possibly damaging |
Het |
Mup2 |
T |
A |
4: 60,137,659 (GRCm39) |
D128V |
probably benign |
Het |
Ndufaf7 |
G |
A |
17: 79,254,461 (GRCm39) |
C418Y |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,150,219 (GRCm39) |
S609G |
probably benign |
Het |
Obscn |
T |
A |
11: 58,898,697 (GRCm39) |
Y6554F |
unknown |
Het |
Odf2l |
A |
G |
3: 144,856,495 (GRCm39) |
|
probably benign |
Het |
Or14j2 |
A |
T |
17: 37,885,892 (GRCm39) |
C141S |
probably damaging |
Het |
Or1o11 |
T |
C |
17: 37,757,180 (GRCm39) |
V245A |
probably damaging |
Het |
Or4c104 |
A |
T |
2: 88,587,016 (GRCm39) |
M1K |
probably null |
Het |
Plod2 |
G |
T |
9: 92,424,371 (GRCm39) |
|
probably benign |
Het |
Ptgfr |
A |
G |
3: 151,541,418 (GRCm39) |
V30A |
probably benign |
Het |
Pxdn |
T |
G |
12: 30,056,566 (GRCm39) |
L1259R |
probably damaging |
Het |
Sacm1l |
G |
A |
9: 123,415,724 (GRCm39) |
|
probably null |
Het |
Scgb2b26 |
T |
C |
7: 33,643,833 (GRCm39) |
T36A |
probably benign |
Het |
Slc1a7 |
A |
G |
4: 107,865,508 (GRCm39) |
N332S |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,851,544 (GRCm39) |
F614L |
probably benign |
Het |
Smad7 |
C |
A |
18: 75,527,119 (GRCm39) |
Q322K |
probably damaging |
Het |
Smap1 |
T |
C |
1: 23,888,507 (GRCm39) |
T253A |
probably benign |
Het |
Socs5 |
G |
T |
17: 87,441,138 (GRCm39) |
R26L |
probably benign |
Het |
Steap4 |
A |
T |
5: 8,026,795 (GRCm39) |
I253F |
possibly damaging |
Het |
Tacc1 |
G |
A |
8: 25,672,803 (GRCm39) |
H142Y |
probably benign |
Het |
Tent5c |
A |
G |
3: 100,380,138 (GRCm39) |
F206S |
probably benign |
Het |
Tmem117 |
G |
A |
15: 94,992,679 (GRCm39) |
M446I |
probably benign |
Het |
Trav7-6 |
G |
A |
14: 53,954,550 (GRCm39) |
D47N |
probably benign |
Het |
Trim2 |
C |
A |
3: 84,100,646 (GRCm39) |
A162S |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,373,596 (GRCm39) |
I1011V |
possibly damaging |
Het |
Vmn2r98 |
T |
C |
17: 19,301,425 (GRCm39) |
V809A |
probably damaging |
Het |
Wfikkn1 |
T |
A |
17: 26,097,071 (GRCm39) |
T418S |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,356,919 (GRCm39) |
D391E |
possibly damaging |
Het |
Zfp109 |
G |
A |
7: 23,928,635 (GRCm39) |
S266F |
probably 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 |
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'- TGATTCTCTGACGCAGGCTC -3'
(R):5'- CCAACTCAAGACTTGTGTCAAG -3'
Sequencing Primer
(F):5'- GGCTCCACCTCCATTAGAGAACTC -3'
(R):5'- AGAGTCTAGCAGGTCCTCAG -3'
|
Posted On |
2020-07-13 |