Incidental Mutation 'R8802:Rbbp6'
| ID |
695738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| MMRRC Submission |
068639-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8802 (G1)
|
| Quality Score |
145.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 122587680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000098062]
[ENSMUST00000231323]
|
| AlphaFold |
P97868 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052135
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
| 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 |
probably benign
Transcript: ENSMUST00000071590
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
| 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 benign
Transcript: ENSMUST00000098062
|
| SMART Domains |
Protein: ENSMUSP00000095670
Gene: ENSMUSG00000030779
| Domain | Start | End | E-Value | Type |
|---|
|
DWNN
|
4 |
76 |
3.92e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231323
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,249,415 (GRCm39) |
T83A |
possibly damaging |
Het |
| Abcc6 |
A |
G |
7: 45,658,283 (GRCm39) |
L451P |
probably damaging |
Het |
| Ak5 |
T |
C |
3: 152,321,631 (GRCm39) |
E252G |
probably damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,552,686 (GRCm39) |
K218N |
probably damaging |
Het |
| Bglap2 |
T |
A |
3: 88,285,568 (GRCm39) |
M35L |
probably benign |
Het |
| Bicral |
A |
G |
17: 47,135,626 (GRCm39) |
M528T |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,244,877 (GRCm39) |
V1008A |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,312,208 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,022 (GRCm39) |
V991A |
probably damaging |
Het |
| Dcc |
T |
C |
18: 71,959,125 (GRCm39) |
N216D |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,576,720 (GRCm39) |
D106V |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,253,544 (GRCm39) |
I2318T |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,173,750 (GRCm39) |
F2321S |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,693 (GRCm39) |
V5A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,315,813 (GRCm39) |
V68A |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,942 (GRCm39) |
L1783P |
probably damaging |
Het |
| Gdf6 |
C |
T |
4: 9,844,769 (GRCm39) |
H98Y |
probably damaging |
Het |
| Gm13271 |
C |
A |
4: 88,673,247 (GRCm39) |
P48Q |
probably damaging |
Het |
| Gm4871 |
A |
T |
5: 144,966,876 (GRCm39) |
N202K |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,635,050 (GRCm39) |
V365I |
probably benign |
Het |
| Hadhb |
C |
T |
5: 30,378,831 (GRCm39) |
Q157* |
probably null |
Het |
| Hivep2 |
C |
T |
10: 14,015,166 (GRCm39) |
R1778C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,301,288 (GRCm39) |
V2845E |
probably damaging |
Het |
| Hps3 |
T |
A |
3: 20,074,070 (GRCm39) |
I431L |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Igkv12-38 |
A |
T |
6: 69,920,390 (GRCm39) |
C43S |
probably damaging |
Het |
| Jph2 |
T |
A |
2: 163,239,184 (GRCm39) |
H88L |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,283,496 (GRCm39) |
R955W |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,603 (GRCm39) |
T410A |
possibly damaging |
Het |
| Ltf |
C |
T |
9: 110,850,018 (GRCm39) |
P14S |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,124,206 (GRCm39) |
R521C |
probably damaging |
Het |
| Nampt |
C |
A |
12: 32,900,435 (GRCm39) |
T460K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,374,192 (GRCm39) |
I282V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,777,172 (GRCm39) |
V1394E |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,567,772 (GRCm39) |
S225L |
probably damaging |
Het |
| Or6k4 |
A |
G |
1: 173,964,616 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,087,211 (GRCm39) |
K465E |
possibly damaging |
Het |
| Pex11g |
T |
C |
8: 3,507,308 (GRCm39) |
K151R |
unknown |
Het |
| Pld2 |
T |
C |
11: 70,446,824 (GRCm39) |
L811P |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,778,726 (GRCm39) |
R459* |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,101 (GRCm39) |
S720G |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,038,073 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
T |
5: 22,130,257 (GRCm39) |
R2685S |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,352,928 (GRCm39) |
F3942L |
|
Het |
| Rpusd2 |
T |
C |
2: 118,865,378 (GRCm39) |
V25A |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,999,540 (GRCm39) |
I81L |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,587 (GRCm39) |
E48G |
probably benign |
Het |
| Skil |
C |
T |
3: 31,167,592 (GRCm39) |
P408L |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 24,089,274 (GRCm39) |
W186R |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,097,968 (GRCm39) |
F2S |
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,665,901 (GRCm39) |
M338V |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,819 (GRCm39) |
R185S |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,157 (GRCm39) |
K2732R |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,080 (GRCm39) |
V50E |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,528,836 (GRCm39) |
D422V |
possibly damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,225,405 (GRCm39) |
V466I |
probably benign |
Het |
| Xndc1 |
A |
G |
7: 101,720,539 (GRCm39) |
I6V |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,567,623 (GRCm39) |
T1154A |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,867 (GRCm39) |
H472Q |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,417 (GRCm39) |
T514S |
possibly 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 |
|
|
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 |
|
|
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'- GGGTATGCTTCTAGTTCAAATTCTG -3'
(R):5'- CACAAGAGCTCGTCTGGGATAG -3'
Sequencing Primer
(F):5'- CTGTCTGGTTGGCACATAGAAATTC -3'
(R):5'- CTGAAGATGATGATGGCTCCTC -3'
|
| Posted On |
2022-01-21 |
Incidental Mutation