Incidental Mutation 'R5608:Rbbp6'
| ID |
439390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| MMRRC Submission |
043272-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5608 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122596309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 617
(V617E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000205495]
[ENSMUST00000231323]
|
| AlphaFold |
P97868 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052135
AA Change: V579E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: V579E
| Domain | Start | End | E-Value | Type |
|---|
|
DWNN
|
4 |
76 |
3.92e-42 |
SMART |
|
low complexity region
|
101 |
110 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
161 |
177 |
5.67e-5 |
SMART |
|
low complexity region
|
233 |
259 |
N/A |
INTRINSIC |
|
RING
|
260 |
300 |
6.05e-4 |
SMART |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
610 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
774 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1025 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1026 |
1091 |
4.38e-6 |
PROSPERO |
|
internal_repeat_1
|
1038 |
1107 |
3.76e-7 |
PROSPERO |
|
low complexity region
|
1120 |
1141 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1154 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1258 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1395 |
1466 |
4.38e-6 |
PROSPERO |
|
low complexity region
|
1472 |
1490 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1523 |
1586 |
3.76e-7 |
PROSPERO |
|
low complexity region
|
1689 |
1752 |
N/A |
INTRINSIC |
|
low complexity region
|
1758 |
1784 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071590
AA Change: V579E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: V579E
| Domain | Start | End | E-Value | Type |
|---|
|
DWNN
|
4 |
76 |
3.92e-42 |
SMART |
|
low complexity region
|
101 |
110 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
161 |
177 |
5.67e-5 |
SMART |
|
low complexity region
|
233 |
259 |
N/A |
INTRINSIC |
|
RING
|
260 |
300 |
6.05e-4 |
SMART |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
969 |
991 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
992 |
1057 |
5.65e-6 |
PROSPERO |
|
internal_repeat_1
|
1004 |
1073 |
5.01e-7 |
PROSPERO |
|
low complexity region
|
1086 |
1107 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1213 |
1224 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1361 |
1432 |
5.65e-6 |
PROSPERO |
|
low complexity region
|
1438 |
1456 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1489 |
1552 |
5.01e-7 |
PROSPERO |
|
low complexity region
|
1655 |
1718 |
N/A |
INTRINSIC |
|
low complexity region
|
1724 |
1750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126053
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206967
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231323
AA Change: V617E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (54/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, reduced size, growth retardation and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
T |
C |
10: 80,178,781 (GRCm39) |
D199G |
probably benign |
Het |
| Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,303,395 (GRCm39) |
E117G |
probably damaging |
Het |
| Alkbh7 |
A |
T |
17: 57,305,446 (GRCm39) |
I88F |
probably damaging |
Het |
| Ankrd26 |
C |
A |
6: 118,488,583 (GRCm39) |
D1359Y |
probably damaging |
Het |
| Apoo-ps |
T |
C |
13: 107,550,709 (GRCm39) |
|
noncoding transcript |
Het |
| Arfgap2 |
G |
A |
2: 91,100,547 (GRCm39) |
R298H |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,920,539 (GRCm39) |
V2109I |
probably damaging |
Het |
| Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
| Bpifa1 |
T |
C |
2: 153,989,495 (GRCm39) |
|
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,092,664 (GRCm39) |
Y737C |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
| Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
| Colec12 |
T |
A |
18: 9,848,267 (GRCm39) |
D148E |
possibly damaging |
Het |
| Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
| Dpysl4 |
T |
C |
7: 138,678,459 (GRCm39) |
V473A |
probably damaging |
Het |
| Dyrk3 |
T |
C |
1: 131,056,452 (GRCm39) |
S574G |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
| Helq |
C |
T |
5: 100,938,085 (GRCm39) |
G454S |
probably damaging |
Het |
| Incenp |
CGCTGCTGCTGC |
CGCTGCTGCTGCTGC |
19: 9,871,232 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
| Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
| Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
C |
12: 84,834,238 (GRCm39) |
|
probably null |
Het |
| Marcks |
A |
T |
10: 37,012,912 (GRCm39) |
V41E |
probably damaging |
Het |
| Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
| Nhlrc3 |
C |
T |
3: 53,369,732 (GRCm39) |
|
probably null |
Het |
| Or1n1b |
A |
G |
2: 36,780,527 (GRCm39) |
F111S |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
| Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
| Or8b8 |
G |
A |
9: 37,809,078 (GRCm39) |
C126Y |
probably damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,514 (GRCm39) |
N78S |
possibly damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,463 (GRCm39) |
K76* |
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,655,036 (GRCm39) |
T644S |
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
| Rnf157 |
A |
T |
11: 116,287,146 (GRCm39) |
|
probably null |
Het |
| Serpina5 |
A |
C |
12: 104,070,003 (GRCm39) |
Y300S |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,617,889 (GRCm39) |
K279R |
probably benign |
Het |
| Smndc1 |
A |
G |
19: 53,372,084 (GRCm39) |
V110A |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,129 (GRCm39) |
Q1017R |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,547,581 (GRCm39) |
S1620T |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,741,603 (GRCm39) |
|
probably benign |
Het |
| Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
probably damaging |
Het |
|
| Other mutations in Rbbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Rbbp6
|
APN |
7 |
122,587,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00561:Rbbp6
|
APN |
7 |
122,570,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01144:Rbbp6
|
APN |
7 |
122,575,169 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01325:Rbbp6
|
APN |
7 |
122,587,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01520:Rbbp6
|
APN |
7 |
122,584,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01765:Rbbp6
|
APN |
7 |
122,599,177 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01985:Rbbp6
|
APN |
7 |
122,570,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02094:Rbbp6
|
APN |
7 |
122,596,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Rbbp6
|
APN |
7 |
122,570,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02552:Rbbp6
|
APN |
7 |
122,582,204 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02805:Rbbp6
|
APN |
7 |
122,600,411 (GRCm39) |
utr 3 prime |
probably benign |
|
|
changeling
|
UTSW |
7 |
122,596,534 (GRCm39) |
splice site |
probably null |
|
|
Puzzlewit
|
UTSW |
7 |
122,599,031 (GRCm39) |
unclassified |
probably benign |
|
|
R0403:Rbbp6
|
UTSW |
7 |
122,591,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0855:Rbbp6
|
UTSW |
7 |
122,591,471 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1132:Rbbp6
|
UTSW |
7 |
122,599,336 (GRCm39) |
unclassified |
probably benign |
|
|
R1463:Rbbp6
|
UTSW |
7 |
122,591,676 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1867:Rbbp6
|
UTSW |
7 |
122,596,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Rbbp6
|
UTSW |
7 |
122,589,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1958:Rbbp6
|
UTSW |
7 |
122,601,168 (GRCm39) |
unclassified |
probably benign |
|
|
R1978:Rbbp6
|
UTSW |
7 |
122,598,711 (GRCm39) |
unclassified |
probably benign |
|
|
R1999:Rbbp6
|
UTSW |
7 |
122,589,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2164:Rbbp6
|
UTSW |
7 |
122,598,697 (GRCm39) |
unclassified |
probably benign |
|
|
R4181:Rbbp6
|
UTSW |
7 |
122,593,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4387:Rbbp6
|
UTSW |
7 |
122,596,534 (GRCm39) |
splice site |
probably null |
|
|
R4583:Rbbp6
|
UTSW |
7 |
122,601,175 (GRCm39) |
unclassified |
probably benign |
|
|
R4936:Rbbp6
|
UTSW |
7 |
122,598,926 (GRCm39) |
unclassified |
probably benign |
|
|
R4974:Rbbp6
|
UTSW |
7 |
122,599,031 (GRCm39) |
unclassified |
probably benign |
|
|
R4998:Rbbp6
|
UTSW |
7 |
122,589,549 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5082:Rbbp6
|
UTSW |
7 |
122,599,925 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5502:Rbbp6
|
UTSW |
7 |
122,587,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Rbbp6
|
UTSW |
7 |
122,601,057 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5570:Rbbp6
|
UTSW |
7 |
122,601,057 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5607:Rbbp6
|
UTSW |
7 |
122,596,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5948:Rbbp6
|
UTSW |
7 |
122,596,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Rbbp6
|
UTSW |
7 |
122,596,534 (GRCm39) |
splice site |
probably null |
|
|
R6172:Rbbp6
|
UTSW |
7 |
122,597,778 (GRCm39) |
nonsense |
probably null |
|
|
R6773:Rbbp6
|
UTSW |
7 |
122,598,578 (GRCm39) |
unclassified |
probably benign |
|
|
R6800:Rbbp6
|
UTSW |
7 |
122,584,287 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7266:Rbbp6
|
UTSW |
7 |
122,600,590 (GRCm39) |
missense |
unknown |
|
|
R7298:Rbbp6
|
UTSW |
7 |
122,600,417 (GRCm39) |
missense |
unknown |
|
|
R7535:Rbbp6
|
UTSW |
7 |
122,589,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7635:Rbbp6
|
UTSW |
7 |
122,575,231 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7665:Rbbp6
|
UTSW |
7 |
122,589,255 (GRCm39) |
splice site |
probably null |
|
|
R7665:Rbbp6
|
UTSW |
7 |
122,593,909 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7910:Rbbp6
|
UTSW |
7 |
122,596,251 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7956:Rbbp6
|
UTSW |
7 |
122,600,561 (GRCm39) |
missense |
unknown |
|
|
R8043:Rbbp6
|
UTSW |
7 |
122,584,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8273:Rbbp6
|
UTSW |
7 |
122,589,547 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8473:Rbbp6
|
UTSW |
7 |
122,600,421 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8679:Rbbp6
|
UTSW |
7 |
122,600,516 (GRCm39) |
missense |
unknown |
|
|
R8712:Rbbp6
|
UTSW |
7 |
122,600,976 (GRCm39) |
missense |
unknown |
|
|
R8802:Rbbp6
|
UTSW |
7 |
122,587,680 (GRCm39) |
intron |
probably benign |
|
|
R8911:Rbbp6
|
UTSW |
7 |
122,591,268 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9152:Rbbp6
|
UTSW |
7 |
122,600,697 (GRCm39) |
missense |
unknown |
|
|
R9159:Rbbp6
|
UTSW |
7 |
122,589,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9308:Rbbp6
|
UTSW |
7 |
122,596,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Rbbp6
|
UTSW |
7 |
122,599,456 (GRCm39) |
missense |
|
|
|
R9509:Rbbp6
|
UTSW |
7 |
122,597,791 (GRCm39) |
missense |
unknown |
|
|
R9608:Rbbp6
|
UTSW |
7 |
122,591,268 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9636:Rbbp6
|
UTSW |
7 |
122,601,175 (GRCm39) |
unclassified |
probably benign |
|
|
R9707:Rbbp6
|
UTSW |
7 |
122,589,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Rbbp6
|
UTSW |
7 |
122,599,369 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAAAGCCTCATTTATCTCAGATG -3'
(R):5'- GAATTCTTCCCTGGACAAAGGAG -3'
Sequencing Primer
(F):5'- AACGATCACAGAGGACTC -3'
(R):5'- CCTGGACAAAGGAGGTGCTTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation