Incidental Mutation 'R2214:Rnf20'
| ID |
241005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf20
|
| Ensembl Gene |
ENSMUSG00000028309 |
| Gene Name |
ring finger protein 20 |
| Synonyms |
4833430L21Rik |
| MMRRC Submission |
040216-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2214 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
49632006-49656887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49648344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 384
(M384K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029989]
[ENSMUST00000146547]
[ENSMUST00000156314]
[ENSMUST00000167496]
|
| AlphaFold |
Q5DTM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029989
AA Change: M384K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: M384K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
45 |
85 |
N/A |
INTRINSIC |
|
coiled coil region
|
172 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
317 |
378 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
514 |
N/A |
INTRINSIC |
|
coiled coil region
|
550 |
733 |
N/A |
INTRINSIC |
|
coiled coil region
|
769 |
805 |
N/A |
INTRINSIC |
|
coiled coil region
|
828 |
867 |
N/A |
INTRINSIC |
|
RING
|
920 |
958 |
2e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146547
|
| SMART Domains |
Protein: ENSMUSP00000120668
Gene: ENSMUSG00000028309
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
45 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149862
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156314
AA Change: M384K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: M384K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
45 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
172 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
174 |
294 |
3e-3 |
SMART |
|
coiled coil region
|
317 |
378 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
514 |
N/A |
INTRINSIC |
|
coiled coil region
|
550 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167496
AA Change: M384K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: M384K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
45 |
85 |
N/A |
INTRINSIC |
|
coiled coil region
|
172 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
317 |
378 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
514 |
N/A |
INTRINSIC |
|
coiled coil region
|
550 |
733 |
N/A |
INTRINSIC |
|
coiled coil region
|
769 |
805 |
N/A |
INTRINSIC |
|
coiled coil region
|
828 |
867 |
N/A |
INTRINSIC |
|
RING
|
920 |
958 |
2e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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 shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
| Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
| Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
| Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
| Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
| Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
| Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
| Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
| Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
| Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
| Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
| Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
| Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
| Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
| Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
| Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
probably benign |
Het |
|
| Other mutations in Rnf20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Rnf20
|
APN |
4 |
49,655,480 (GRCm39) |
nonsense |
probably null |
|
|
IGL01319:Rnf20
|
APN |
4 |
49,649,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01666:Rnf20
|
APN |
4 |
49,654,486 (GRCm39) |
nonsense |
probably null |
|
|
IGL01975:Rnf20
|
APN |
4 |
49,654,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02130:Rnf20
|
APN |
4 |
49,644,481 (GRCm39) |
splice site |
probably benign |
|
|
IGL02179:Rnf20
|
APN |
4 |
49,638,712 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03096:Rnf20
|
APN |
4 |
49,638,615 (GRCm39) |
splice site |
probably benign |
|
|
IGL03120:Rnf20
|
APN |
4 |
49,649,955 (GRCm39) |
splice site |
probably benign |
|
|
IGL03208:Rnf20
|
APN |
4 |
49,645,706 (GRCm39) |
splice site |
probably benign |
|
|
IGL03257:Rnf20
|
APN |
4 |
49,645,687 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03349:Rnf20
|
APN |
4 |
49,655,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Rnf20
|
UTSW |
4 |
49,650,176 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0486:Rnf20
|
UTSW |
4 |
49,645,907 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0791:Rnf20
|
UTSW |
4 |
49,638,197 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0927:Rnf20
|
UTSW |
4 |
49,642,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Rnf20
|
UTSW |
4 |
49,638,230 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1272:Rnf20
|
UTSW |
4 |
49,651,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1460:Rnf20
|
UTSW |
4 |
49,645,873 (GRCm39) |
splice site |
probably benign |
|
|
R1522:Rnf20
|
UTSW |
4 |
49,638,197 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1698:Rnf20
|
UTSW |
4 |
49,651,498 (GRCm39) |
nonsense |
probably null |
|
|
R1848:Rnf20
|
UTSW |
4 |
49,644,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2497:Rnf20
|
UTSW |
4 |
49,652,676 (GRCm39) |
splice site |
probably null |
|
|
R2915:Rnf20
|
UTSW |
4 |
49,638,769 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4726:Rnf20
|
UTSW |
4 |
49,654,579 (GRCm39) |
nonsense |
probably null |
|
|
R4770:Rnf20
|
UTSW |
4 |
49,633,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4799:Rnf20
|
UTSW |
4 |
49,649,962 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4960:Rnf20
|
UTSW |
4 |
49,638,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5022:Rnf20
|
UTSW |
4 |
49,642,016 (GRCm39) |
intron |
probably benign |
|
|
R5146:Rnf20
|
UTSW |
4 |
49,651,456 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5379:Rnf20
|
UTSW |
4 |
49,652,639 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5423:Rnf20
|
UTSW |
4 |
49,644,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6297:Rnf20
|
UTSW |
4 |
49,642,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Rnf20
|
UTSW |
4 |
49,650,051 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7064:Rnf20
|
UTSW |
4 |
49,644,580 (GRCm39) |
nonsense |
probably null |
|
|
R7776:Rnf20
|
UTSW |
4 |
49,644,592 (GRCm39) |
nonsense |
probably null |
|
|
R8735:Rnf20
|
UTSW |
4 |
49,655,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8995:Rnf20
|
UTSW |
4 |
49,648,437 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9599:Rnf20
|
UTSW |
4 |
49,638,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9661:Rnf20
|
UTSW |
4 |
49,654,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Rnf20
|
UTSW |
4 |
49,645,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGATTGGGTTTTACTCAGAAG -3'
(R):5'- GCCTGATCTCCCCACATGTAAG -3'
Sequencing Primer
(F):5'- CTCAGAAGTGGTAGTCTAGACTTC -3'
(R):5'- CCACATGTAAGATCCATATGCAGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation