Incidental Mutation 'R9308:Rbbp6'
| ID |
705341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122596221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 550
(S550P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000205495]
[ENSMUST00000231323]
|
| AlphaFold |
P97868 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052135
AA Change: S550P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: S550P
| 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 damaging
Transcript: ENSMUST00000071590
AA Change: S550P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: S550P
| 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 |
probably damaging
Transcript: ENSMUST00000231323
AA Change: S588P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,220,667 (GRCm39) |
E389* |
probably null |
Het |
| 2700049A03Rik |
T |
C |
12: 71,231,233 (GRCm39) |
V997A |
probably benign |
Het |
| 9930012K11Rik |
A |
G |
14: 70,393,863 (GRCm39) |
|
probably null |
Het |
| Acss3 |
C |
G |
10: 106,959,282 (GRCm39) |
G55R |
possibly damaging |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Acy3 |
C |
T |
19: 4,038,451 (GRCm39) |
R193W |
probably damaging |
Het |
| Adam15 |
T |
C |
3: 89,254,790 (GRCm39) |
D90G |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,857,875 (GRCm39) |
D833G |
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,300 (GRCm39) |
S40G |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,854,061 (GRCm39) |
M1777K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,513,089 (GRCm39) |
E171G |
probably benign |
Het |
| Cblb |
A |
G |
16: 52,009,374 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
T |
C |
4: 70,328,504 (GRCm39) |
M1V |
probably null |
Het |
| Clca4a |
T |
G |
3: 144,676,183 (GRCm39) |
E117A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,200,118 (GRCm39) |
|
probably null |
Het |
| Crygd |
T |
C |
1: 65,101,220 (GRCm39) |
N125S |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,655,585 (GRCm39) |
H482L |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
| Dgkg |
C |
A |
16: 22,429,528 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
C |
7: 105,353,484 (GRCm39) |
V2879A |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,728,744 (GRCm39) |
C1307* |
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,706,968 (GRCm39) |
M505K |
probably benign |
Het |
| Fam131a |
A |
G |
16: 20,520,582 (GRCm39) |
D345G |
probably damaging |
Het |
| Fbxw17 |
G |
T |
13: 50,572,004 (GRCm39) |
R24L |
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,691,239 (GRCm39) |
I252R |
possibly damaging |
Het |
| Gpr150 |
G |
A |
13: 76,203,701 (GRCm39) |
R415C |
probably damaging |
Het |
| Gtf3c4 |
G |
A |
2: 28,724,982 (GRCm39) |
S250L |
probably damaging |
Het |
| Irs3 |
G |
A |
5: 137,642,343 (GRCm39) |
A365V |
possibly damaging |
Het |
| Jph4 |
C |
A |
14: 55,346,981 (GRCm39) |
G522V |
probably damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,305,434 (GRCm39) |
G302R |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,918,291 (GRCm39) |
L621H |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,503,945 (GRCm39) |
E124G |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,722 (GRCm39) |
L203P |
probably damaging |
Het |
| Mapk15 |
T |
A |
15: 75,865,714 (GRCm39) |
C2* |
probably null |
Het |
| Mga |
T |
A |
2: 119,754,369 (GRCm39) |
N959K |
possibly damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,655 (GRCm39) |
N23K |
possibly damaging |
Het |
| Myo10 |
G |
T |
15: 25,781,862 (GRCm39) |
S1119I |
probably damaging |
Het |
| Or12e13 |
G |
A |
2: 87,663,523 (GRCm39) |
G47R |
probably damaging |
Het |
| Or14j4 |
A |
G |
17: 37,921,246 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or2a12 |
G |
T |
6: 42,904,749 (GRCm39) |
V195F |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,931 (GRCm39) |
H158L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,501 (GRCm39) |
V27A |
probably benign |
Het |
| Ovch2 |
T |
C |
7: 107,389,560 (GRCm39) |
E329G |
probably benign |
Het |
| Pkn2 |
C |
T |
3: 142,517,724 (GRCm39) |
R458Q |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,097,535 (GRCm39) |
|
probably null |
Het |
| Ppfia4 |
A |
G |
1: 134,245,556 (GRCm39) |
V666A |
probably benign |
Het |
| Psmb10 |
T |
C |
8: 106,662,662 (GRCm39) |
R226G |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,740,569 (GRCm39) |
V78A |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,450,850 (GRCm39) |
M1004V |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,668,297 (GRCm39) |
S626T |
probably benign |
Het |
| Rad21l |
T |
C |
2: 151,491,049 (GRCm39) |
T473A |
probably benign |
Het |
| Rassf7 |
T |
C |
7: 140,798,063 (GRCm39) |
S344P |
probably benign |
Het |
| Rhpn2 |
T |
C |
7: 35,033,805 (GRCm39) |
L13P |
possibly damaging |
Het |
| Rps11 |
C |
T |
7: 44,772,614 (GRCm39) |
V66I |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,044,617 (GRCm39) |
V190A |
probably benign |
Het |
| Smad1 |
T |
C |
8: 80,098,899 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,965,556 (GRCm39) |
K327E |
possibly damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tom1l1 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
11: 90,540,648 (GRCm39) |
|
probably benign |
Het |
| Traj22 |
T |
C |
14: 54,434,729 (GRCm39) |
I8T |
|
Het |
| Txnl1 |
T |
C |
18: 63,812,446 (GRCm39) |
D116G |
probably benign |
Het |
| Ush1g |
A |
T |
11: 115,209,534 (GRCm39) |
L220Q |
probably damaging |
Het |
| Vmn2r10 |
C |
A |
5: 109,145,476 (GRCm39) |
E544* |
probably null |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,505 (GRCm39) |
V601A |
probably damaging |
Het |
| Zc3h13 |
C |
T |
14: 75,565,418 (GRCm39) |
R844W |
unknown |
Het |
| Zfpm1 |
A |
C |
8: 123,034,231 (GRCm39) |
D55A |
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 |
|
R9152:Rbbp6
|
UTSW |
7 |
122,600,697 (GRCm39) |
missense |
unknown |
|
|
R9159:Rbbp6
|
UTSW |
7 |
122,589,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ACCTTAACTGCATTTGTACTGGAG -3'
(R):5'- ACCCAAGGTGTTGATATATTGGCAG -3'
Sequencing Primer
(F):5'- ACTGCATTTGTACTGGAGTAATTG -3'
(R):5'- CAGGAGCTGGTGGAAACCCTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation