Incidental Mutation 'R7665:Rbbp6'
ID |
591862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbbp6
|
Ensembl Gene |
ENSMUSG00000030779 |
Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
Synonyms |
C030034J04Rik, 4933422O15Rik |
MMRRC Submission |
045739-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7665 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122593909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 514
(Y514H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000231323]
|
AlphaFold |
P97868 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052135
AA Change: Y514H
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049528 Gene: ENSMUSG00000030779 AA Change: Y514H
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: Y514H
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071519 Gene: ENSMUSG00000030779 AA Change: Y514H
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 |
probably damaging
Transcript: ENSMUST00000231323
AA Change: Y552H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (72/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
A |
G |
5: 115,012,384 (GRCm39) |
|
probably null |
Het |
A830018L16Rik |
T |
C |
1: 12,042,323 (GRCm39) |
S448P |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,838,139 (GRCm39) |
|
probably benign |
Het |
Ackr2 |
A |
G |
9: 121,738,374 (GRCm39) |
M250V |
probably benign |
Het |
Actn4 |
A |
G |
7: 28,615,632 (GRCm39) |
I147T |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,647,261 (GRCm39) |
S3093N |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Brwd1 |
G |
A |
16: 95,842,543 (GRCm39) |
T798M |
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,947,138 (GRCm39) |
T540I |
possibly damaging |
Het |
Cdkn1c |
A |
G |
7: 143,014,371 (GRCm39) |
V25A |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,874,581 (GRCm39) |
E1420G |
unknown |
Het |
Dbf4 |
G |
A |
5: 8,447,867 (GRCm39) |
P448S |
probably damaging |
Het |
Dnajb7 |
T |
C |
15: 81,291,620 (GRCm39) |
N239S |
probably benign |
Het |
Dnttip1 |
A |
G |
2: 164,596,061 (GRCm39) |
D102G |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,986,000 (GRCm39) |
V830D |
probably damaging |
Het |
Eddm13 |
G |
A |
7: 6,272,891 (GRCm39) |
|
probably null |
Het |
Eef1g |
T |
C |
19: 8,945,653 (GRCm39) |
V29A |
probably benign |
Het |
Enpp2 |
T |
A |
15: 54,702,790 (GRCm39) |
Y906F |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 34,139,069 (GRCm39) |
L23P |
possibly damaging |
Het |
Exoc1 |
T |
A |
5: 76,691,420 (GRCm39) |
M248K |
probably benign |
Het |
Fam83b |
T |
C |
9: 76,398,157 (GRCm39) |
Y982C |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,943,327 (GRCm39) |
A740V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,812,149 (GRCm39) |
S2823T |
probably benign |
Het |
Gckr |
T |
C |
5: 31,454,899 (GRCm39) |
|
|
Het |
Gpr150 |
A |
T |
13: 76,204,093 (GRCm39) |
V284E |
probably damaging |
Het |
Grtp1 |
T |
G |
8: 13,227,103 (GRCm39) |
I344L |
probably benign |
Het |
Heatr5a |
T |
A |
12: 52,008,313 (GRCm39) |
N10I |
probably damaging |
Het |
Herc2 |
C |
A |
7: 55,802,903 (GRCm39) |
L2109I |
probably damaging |
Het |
Hs1bp3 |
T |
A |
12: 8,367,935 (GRCm39) |
D61E |
probably damaging |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,490,979 (GRCm39) |
F317L |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,638,491 (GRCm39) |
I764T |
unknown |
Het |
Med8 |
A |
C |
4: 118,268,853 (GRCm39) |
|
probably null |
Het |
Mpeg1 |
C |
A |
19: 12,440,458 (GRCm39) |
P639T |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,072,393 (GRCm39) |
Y562N |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,469,785 (GRCm39) |
L456P |
probably benign |
Het |
Neo1 |
A |
G |
9: 58,833,078 (GRCm39) |
S556P |
probably damaging |
Het |
Nphp3 |
T |
A |
9: 103,882,592 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
C |
6: 35,154,555 (GRCm39) |
V53A |
possibly damaging |
Het |
Nvl |
A |
T |
1: 180,962,509 (GRCm39) |
S154T |
probably benign |
Het |
Or10h1 |
G |
T |
17: 33,418,603 (GRCm39) |
G194* |
probably null |
Het |
Or1e31 |
A |
T |
11: 73,689,787 (GRCm39) |
N265K |
probably benign |
Het |
Or2ag2 |
A |
T |
7: 106,485,880 (GRCm39) |
V48D |
possibly damaging |
Het |
Or2h2c |
A |
G |
17: 37,422,283 (GRCm39) |
M197T |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,523 (GRCm39) |
I280F |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,047,130 (GRCm39) |
|
probably null |
Het |
Parvg |
T |
C |
15: 84,222,002 (GRCm39) |
I243T |
probably damaging |
Het |
Paxip1 |
T |
A |
5: 27,970,736 (GRCm39) |
M538L |
unknown |
Het |
Pgghg |
G |
T |
7: 140,525,382 (GRCm39) |
D428Y |
probably damaging |
Het |
Pik3cd |
C |
T |
4: 149,738,507 (GRCm39) |
V777M |
possibly damaging |
Het |
Plcl2 |
A |
C |
17: 50,914,185 (GRCm39) |
K398T |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,301,520 (GRCm39) |
|
probably null |
Het |
Scin |
T |
A |
12: 40,119,414 (GRCm39) |
N538I |
probably damaging |
Het |
Sdcbp |
A |
G |
4: 6,385,144 (GRCm39) |
D121G |
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,872,561 (GRCm39) |
I311T |
probably damaging |
Het |
Shq1 |
A |
C |
6: 100,550,717 (GRCm39) |
L407W |
probably damaging |
Het |
Sipa1 |
A |
T |
19: 5,701,699 (GRCm39) |
S979T |
probably benign |
Het |
Slc25a37 |
G |
T |
14: 69,487,028 (GRCm39) |
T85K |
probably benign |
Het |
Spag9 |
A |
T |
11: 93,904,480 (GRCm39) |
Q112L |
probably damaging |
Het |
Spg11 |
A |
T |
2: 121,896,748 (GRCm39) |
V1686E |
probably damaging |
Het |
Stap2 |
A |
G |
17: 56,304,909 (GRCm39) |
V291A |
probably benign |
Het |
Tnk2 |
C |
T |
16: 32,499,344 (GRCm39) |
R886C |
probably damaging |
Het |
Tnrc6c |
T |
A |
11: 117,611,777 (GRCm39) |
D138E |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,587,756 (GRCm39) |
S1426P |
probably benign |
Het |
Vav1 |
G |
A |
17: 57,604,086 (GRCm39) |
V163M |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,801,196 (GRCm39) |
K247* |
probably null |
Het |
Zc2hc1c |
T |
C |
12: 85,343,336 (GRCm39) |
V491A |
possibly damaging |
Het |
Zfp51 |
A |
G |
17: 21,683,843 (GRCm39) |
T153A |
probably benign |
Het |
Zyx |
A |
G |
6: 42,333,096 (GRCm39) |
E374G |
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 |
R5608: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 |
|
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'- GCTTAGATCTCCTCTGGAACAAC -3'
(R):5'- TGAGCATACATACCAACATGGG -3'
Sequencing Primer
(F):5'- CTCCTCTGGAACAACTTTTAAGAG -3'
(R):5'- CTGCATCTGGTAGGAATTAAACCTGG -3'
|
Posted On |
2019-11-12 |