Incidental Mutation 'R0141:Rnf6'
| ID |
22312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf6
|
| Ensembl Gene |
ENSMUSG00000029634 |
| Gene Name |
ring finger protein (C3H2C3 type) 6 |
| Synonyms |
5730419H05Rik, 1200013I08Rik |
| MMRRC Submission |
038426-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R0141 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
146146003-146158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 146148645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 135
(N135K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067837]
[ENSMUST00000159074]
[ENSMUST00000161331]
[ENSMUST00000161574]
[ENSMUST00000161859]
[ENSMUST00000169407]
|
| AlphaFold |
Q9DBU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067837
AA Change: N124K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: N124K
| 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 |
possibly damaging
Transcript: ENSMUST00000161331
AA Change: N124K
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634
AA Change: N124K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161574
AA Change: N135K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634
AA Change: N135K
| 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: ENSMUST00000161859
AA Change: N124K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: N124K
| 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 |
unknown
Transcript: ENSMUST00000162219
AA Change: N93K
|
| SMART Domains |
Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: N93K
| 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 benign
Transcript: ENSMUST00000169407
AA Change: N124K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: N124K
| 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 |
0.0622 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
88% (50/57) |
| 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 |
|---|
| Acot12 |
A |
C |
13: 91,919,947 (GRCm39) |
D294A |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,920,066 (GRCm39) |
D24G |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,044 (GRCm39) |
G1776D |
probably damaging |
Het |
| Arfgef3 |
C |
A |
10: 18,473,155 (GRCm39) |
C1636F |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,501,940 (GRCm39) |
L722P |
probably damaging |
Het |
| Ccndbp1 |
T |
A |
2: 120,842,903 (GRCm39) |
M188K |
probably damaging |
Het |
| Col27a1 |
A |
T |
4: 63,183,870 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,616,095 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,298,912 (GRCm39) |
I71V |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dmrt2 |
A |
T |
19: 25,655,655 (GRCm39) |
Q418L |
possibly damaging |
Het |
| Ebf1 |
T |
C |
11: 44,798,827 (GRCm39) |
L284S |
probably damaging |
Het |
| Fam131a |
G |
A |
16: 20,517,738 (GRCm39) |
A15T |
probably benign |
Het |
| Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,430,251 (GRCm39) |
E226G |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,198,238 (GRCm39) |
I174N |
probably damaging |
Het |
| Gm44501 |
T |
C |
17: 40,889,744 (GRCm39) |
I86T |
probably benign |
Het |
| Gtsf1l |
T |
C |
2: 162,929,246 (GRCm39) |
Q79R |
probably benign |
Het |
| Hapln4 |
T |
C |
8: 70,540,930 (GRCm39) |
L321P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,771,309 (GRCm39) |
T1024A |
probably benign |
Het |
| Hps5 |
A |
G |
7: 46,438,605 (GRCm39) |
S43P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,253 (GRCm39) |
Y643H |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,968,274 (GRCm39) |
R1472H |
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,767,744 (GRCm39) |
Y73H |
possibly damaging |
Het |
| Loxl1 |
T |
A |
9: 58,219,415 (GRCm39) |
Q252L |
probably damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,504,512 (GRCm39) |
I2485M |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,037 (GRCm39) |
V46D |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,973,840 (GRCm39) |
S260G |
possibly damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,835 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5i1 |
C |
G |
2: 87,613,049 (GRCm39) |
P55R |
possibly damaging |
Het |
| Or5p63 |
A |
C |
7: 107,811,210 (GRCm39) |
N175K |
possibly damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,575 (GRCm39) |
N83Y |
probably benign |
Het |
| Osbp |
T |
C |
19: 11,951,223 (GRCm39) |
V256A |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,841,936 (GRCm39) |
D4737V |
unknown |
Het |
| Pkdrej |
A |
G |
15: 85,699,831 (GRCm39) |
I2035T |
probably damaging |
Het |
| Plek2 |
A |
G |
12: 78,941,278 (GRCm39) |
S185P |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,582,117 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
T |
C |
4: 22,487,210 (GRCm39) |
T308A |
possibly damaging |
Het |
| Pramel22 |
T |
C |
4: 143,381,138 (GRCm39) |
Y295C |
probably benign |
Het |
| Pxmp4 |
A |
G |
2: 154,434,215 (GRCm39) |
V82A |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,382 (GRCm39) |
V819A |
probably damaging |
Het |
| Scn1a |
C |
A |
2: 66,119,406 (GRCm39) |
V1355L |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,542,160 (GRCm39) |
N754K |
probably benign |
Het |
| Serpina3b |
A |
T |
12: 104,097,030 (GRCm39) |
N104Y |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,289,122 (GRCm39) |
S648P |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,318,815 (GRCm39) |
V486I |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,722,863 (GRCm39) |
N772K |
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,988,072 (GRCm39) |
D1743E |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,383,857 (GRCm39) |
|
probably null |
Het |
| Tfb1m |
T |
C |
17: 3,605,232 (GRCm39) |
D87G |
probably damaging |
Het |
| Tll2 |
C |
T |
19: 41,086,351 (GRCm39) |
G609S |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,324,577 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
A |
G |
6: 115,545,790 (GRCm39) |
D360G |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,388,842 (GRCm39) |
P457L |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,252 (GRCm39) |
N282S |
possibly damaging |
Het |
| Vmn2r58 |
G |
A |
7: 41,511,309 (GRCm39) |
S498F |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,205,139 (GRCm39) |
I392T |
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 |
|
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 |
|
|
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'- ACAGGACTCGATGGTCTTTGCTGC -3'
(R):5'- GGCCACAGGGAGAATTGCTTTATGG -3'
Sequencing Primer
(F):5'- ATGGTCTTTGCTGCCTATGC -3'
(R):5'- aggcagttcttccaccac -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation