Incidental Mutation 'R9152:Rbbp6'
| ID |
695092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| MMRRC Submission |
068939-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122600697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1568
(E1568G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000205495]
[ENSMUST00000231323]
|
| AlphaFold |
P97868 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000052135
AA Change: E1568G
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: E1568G
| 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 |
unknown
Transcript: ENSMUST00000071590
AA Change: E1534G
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: E1534G
| 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: ENSMUST00000205495
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231323
AA Change: E1606G
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
C |
A |
13: 104,613,275 (GRCm39) |
R1009S |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,609,439 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
T |
A |
13: 94,630,239 (GRCm39) |
D831E |
unknown |
Het |
| Arsa |
G |
A |
15: 89,359,995 (GRCm39) |
|
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,463 (GRCm39) |
K1066R |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,155,799 (GRCm39) |
M15T |
probably benign |
Het |
| Defb38 |
C |
T |
8: 19,076,558 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,021,457 (GRCm39) |
D323G |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,416,329 (GRCm39) |
D743E |
probably benign |
Het |
| Eif1ad11 |
T |
C |
12: 87,993,946 (GRCm39) |
L58P |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,808,352 (GRCm39) |
L268P |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,918,325 (GRCm39) |
A863D |
probably benign |
Het |
| Hfm1 |
T |
A |
5: 106,989,611 (GRCm39) |
R1368S |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,249,876 (GRCm39) |
G1379E |
possibly damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,539,692 (GRCm39) |
|
probably null |
Het |
| Lrit2 |
C |
T |
14: 36,794,187 (GRCm39) |
T417I |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Macroh2a1 |
CTTACCTCCAGCT |
C |
13: 56,232,004 (GRCm39) |
|
probably null |
Het |
| Mgat2 |
G |
A |
12: 69,232,497 (GRCm39) |
W357* |
probably null |
Het |
| Mlkl |
A |
G |
8: 112,046,403 (GRCm39) |
L290P |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,439 (GRCm39) |
S10T |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,114 (GRCm39) |
I203V |
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,408,448 (GRCm39) |
I135F |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,022,589 (GRCm39) |
V853A |
|
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
G |
A |
7: 116,017,004 (GRCm39) |
S251L |
probably benign |
Het |
| Prkch |
T |
C |
12: 73,738,418 (GRCm39) |
M175T |
possibly damaging |
Het |
| Psg22 |
A |
T |
7: 18,460,646 (GRCm39) |
Q425L |
probably damaging |
Het |
| Qpctl |
A |
G |
7: 18,883,025 (GRCm39) |
L29P |
probably damaging |
Het |
| Ranbp10 |
A |
T |
8: 106,499,140 (GRCm39) |
L549M |
probably benign |
Het |
| Rrh |
A |
T |
3: 129,606,903 (GRCm39) |
D173E |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,877,256 (GRCm39) |
N857I |
possibly damaging |
Het |
| Selplg |
A |
G |
5: 113,957,467 (GRCm39) |
S280P |
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,287,329 (GRCm39) |
S17P |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,068 (GRCm39) |
V1775A |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,104,162 (GRCm39) |
V244G |
probably benign |
Het |
| Tex24 |
A |
C |
8: 27,835,379 (GRCm39) |
E302D |
possibly damaging |
Het |
| Trav18 |
A |
G |
14: 54,069,011 (GRCm39) |
T19A |
probably benign |
Het |
| Trim56 |
T |
C |
5: 137,143,387 (GRCm39) |
D43G |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,029,056 (GRCm39) |
T1869A |
probably damaging |
Het |
| Usp22 |
A |
G |
11: 61,049,201 (GRCm39) |
C383R |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
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 |
|
|
R8802:Rbbp6
|
UTSW |
7 |
122,587,680 (GRCm39) |
intron |
probably benign |
|
|
R8911:Rbbp6
|
UTSW |
7 |
122,591,268 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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'- TCTCTGTCTGGGCAGAAAAGC -3'
(R):5'- TAATCTGGTTCAAAGGCAGCC -3'
Sequencing Primer
(F):5'- TCTGGGCAGAAAAGCAAGCTG -3'
(R):5'- TTCAAAGGCAGCCTCGTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation