Incidental Mutation 'R5437:Rnf6'
| ID |
428417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf6
|
| Ensembl Gene |
ENSMUSG00000029634 |
| Gene Name |
ring finger protein (C3H2C3 type) 6 |
| Synonyms |
5730419H05Rik, 1200013I08Rik |
| MMRRC Submission |
043002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R5437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
146146003-146158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146147090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 643
(R643C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128774
(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: R643C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: R643C
| 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: R643C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: R643C
| 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: R643C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: R643C
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Acaca |
G |
A |
11: 84,237,646 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,377,720 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,884,684 (GRCm39) |
Q576K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,053,668 (GRCm39) |
N378I |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,255,730 (GRCm39) |
H871L |
probably damaging |
Het |
| Clic4 |
C |
G |
4: 134,944,557 (GRCm39) |
R206P |
probably damaging |
Het |
| Commd9 |
G |
A |
2: 101,731,373 (GRCm39) |
G186D |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,281,591 (GRCm39) |
|
probably benign |
Het |
| Crhr2 |
C |
T |
6: 55,077,718 (GRCm39) |
V196I |
probably damaging |
Het |
| Dctn5 |
T |
A |
7: 121,732,552 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,930 (GRCm39) |
R247Q |
probably benign |
Het |
| Dmrta1 |
G |
A |
4: 89,579,993 (GRCm39) |
G318R |
possibly damaging |
Het |
| Dpp6 |
T |
A |
5: 27,868,499 (GRCm39) |
Y487* |
probably null |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,116 (GRCm39) |
N119K |
probably damaging |
Het |
| Eloa |
A |
T |
4: 135,740,196 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,996,604 (GRCm39) |
T1202M |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,913,982 (GRCm39) |
I205T |
possibly damaging |
Het |
| Fkbp10 |
A |
C |
11: 100,311,849 (GRCm39) |
D174A |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,014,652 (GRCm39) |
F274L |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,266,540 (GRCm39) |
C969S |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,551,450 (GRCm39) |
E130G |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,615,479 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
C |
T |
14: 65,043,563 (GRCm39) |
R1788C |
probably damaging |
Het |
| Kif3a |
C |
T |
11: 53,489,553 (GRCm39) |
S135F |
probably damaging |
Het |
| Klf5 |
C |
T |
14: 99,538,895 (GRCm39) |
R23* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,023 (GRCm39) |
I11V |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,458,930 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,659,818 (GRCm39) |
I338V |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,096,757 (GRCm39) |
N126S |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 112,905,439 (GRCm39) |
A2053E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,439,812 (GRCm39) |
C318* |
probably null |
Het |
| Ndufs7 |
C |
T |
10: 80,090,758 (GRCm39) |
R116C |
possibly damaging |
Het |
| Odr4 |
T |
G |
1: 150,239,269 (GRCm39) |
I385L |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,859,935 (GRCm39) |
M30T |
probably benign |
Het |
| Pnkd |
T |
C |
1: 74,388,896 (GRCm39) |
V214A |
possibly damaging |
Het |
| Popdc2 |
T |
G |
16: 38,183,263 (GRCm39) |
V82G |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,587,739 (GRCm39) |
L2541F |
possibly damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,927,321 (GRCm39) |
H66L |
possibly damaging |
Het |
| Pygm |
T |
A |
19: 6,440,412 (GRCm39) |
N397K |
probably damaging |
Het |
| Rabgap1l |
T |
A |
1: 160,549,717 (GRCm39) |
E324D |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,506,690 (GRCm39) |
Y1400H |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,012,781 (GRCm39) |
N279I |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,274,079 (GRCm39) |
Y415F |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,241,040 (GRCm39) |
T449A |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,176,249 (GRCm39) |
T325M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,396,942 (GRCm39) |
I147T |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,650,230 (GRCm39) |
H30Q |
probably benign |
Het |
| Tmem109 |
A |
G |
19: 10,849,378 (GRCm39) |
I159T |
probably damaging |
Het |
| Tmem40 |
C |
T |
6: 115,735,992 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,348,753 (GRCm39) |
P122S |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,733 (GRCm39) |
D1038G |
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,274,623 (GRCm39) |
E852D |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,774,734 (GRCm39) |
N518I |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,693,737 (GRCm39) |
L2596R |
possibly damaging |
Het |
| Zcchc3 |
G |
A |
2: 152,256,652 (GRCm39) |
P16S |
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 |
|
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 |
|
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'- CCATCCCTACTGCAGTATTAGGAG -3'
(R):5'- GCGATGATGATCCAATTCGTG -3'
Sequencing Primer
(F):5'- CCCTACTGCAGTATTAGGAGAAAGAC -3'
(R):5'- GGTTTAACCAAAGAGCAGATTGAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation