Incidental Mutation 'R7266:Rbbp6'
| ID |
564930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| MMRRC Submission |
045389-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7266 (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 A
at 122600590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1532
(S1532R)
|
| 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: S1532R
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: S1532R
| 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: S1498R
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: S1498R
| 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: S1570R
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
A |
8: 25,157,639 (GRCm39) |
I104F |
probably benign |
Het |
| Adgrg7 |
C |
T |
16: 56,590,674 (GRCm39) |
V166I |
probably benign |
Het |
| Agfg1 |
G |
T |
1: 82,859,966 (GRCm39) |
V278L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,328 (GRCm39) |
E715G |
possibly damaging |
Het |
| Ap2m1 |
A |
G |
16: 20,362,095 (GRCm39) |
Y401C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,101,960 (GRCm39) |
S838N |
probably benign |
Het |
| Ash2l |
A |
T |
8: 26,317,233 (GRCm39) |
Y373* |
probably null |
Het |
| Best2 |
C |
T |
8: 85,734,393 (GRCm39) |
V442I |
probably benign |
Het |
| Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,175,856 (GRCm39) |
D1619V |
probably damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,499,446 (GRCm39) |
N1272I |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,417,995 (GRCm39) |
*779C |
probably null |
Het |
| Gm12216 |
G |
A |
11: 53,750,077 (GRCm39) |
|
probably benign |
Het |
| Grm2 |
C |
T |
9: 106,524,370 (GRCm39) |
V311I |
|
Het |
| Immt |
T |
A |
6: 71,851,689 (GRCm39) |
D683E |
probably benign |
Het |
| Itga8 |
T |
G |
2: 12,237,712 (GRCm39) |
D336A |
probably damaging |
Het |
| Jhy |
T |
C |
9: 40,872,453 (GRCm39) |
T19A |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,776,885 (GRCm39) |
M1V |
probably null |
Het |
| Kctd17 |
A |
T |
15: 78,317,214 (GRCm39) |
I117F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,484,364 (GRCm39) |
T420A |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,223,673 (GRCm39) |
S187P |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,616,938 (GRCm39) |
D13V |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,902,963 (GRCm39) |
F145L |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,922,497 (GRCm39) |
D551E |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,973 (GRCm39) |
V154A |
possibly damaging |
Het |
| Myo10 |
C |
G |
15: 25,783,067 (GRCm39) |
R1170G |
probably damaging |
Het |
| Myo16 |
A |
C |
8: 10,322,687 (GRCm39) |
Q39P |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,820,668 (GRCm39) |
E837G |
probably benign |
Het |
| Nell2 |
T |
A |
15: 95,333,274 (GRCm39) |
I128F |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,448 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,215,222 (GRCm39) |
R659* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,028 (GRCm39) |
Q881R |
possibly damaging |
Het |
| Plekhm2 |
T |
G |
4: 141,369,770 (GRCm39) |
E75A |
possibly damaging |
Het |
| Prc1 |
A |
G |
7: 79,957,405 (GRCm39) |
K357E |
possibly damaging |
Het |
| Pxk |
T |
A |
14: 8,146,220 (GRCm38) |
C377S |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,176,488 (GRCm39) |
E1696G |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,391,626 (GRCm39) |
A22E |
probably benign |
Het |
| Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
| Siae |
T |
C |
9: 37,534,309 (GRCm39) |
V115A |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,344,107 (GRCm39) |
C563R |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,752,243 (GRCm39) |
V58G |
possibly damaging |
Het |
| Snx11 |
C |
T |
11: 96,663,985 (GRCm39) |
V36M |
probably damaging |
Het |
| Stk3 |
C |
A |
15: 34,959,182 (GRCm39) |
S330I |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,762,631 (GRCm39) |
F92S |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,057,924 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
A |
G |
15: 94,829,684 (GRCm39) |
D173G |
possibly damaging |
Het |
| Tmem217b |
C |
A |
17: 29,738,347 (GRCm39) |
V140L |
probably benign |
Het |
| Tmprss5 |
T |
C |
9: 49,025,841 (GRCm39) |
W338R |
probably benign |
Het |
| Tnfrsf19 |
T |
C |
14: 61,212,147 (GRCm39) |
T168A |
possibly damaging |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trim56 |
G |
T |
5: 137,143,097 (GRCm39) |
Q140K |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,562,918 (GRCm39) |
V28679M |
probably damaging |
Het |
| Ubxn8 |
G |
A |
8: 34,113,231 (GRCm39) |
R208C |
probably damaging |
Het |
| Vmn2r72 |
G |
T |
7: 85,387,482 (GRCm39) |
S694* |
probably null |
Het |
| Wdr38 |
T |
A |
2: 38,890,276 (GRCm39) |
W137R |
probably damaging |
Het |
| Zdhhc6 |
G |
T |
19: 55,292,932 (GRCm39) |
N271K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,575,744 (GRCm39) |
S446P |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,649,492 (GRCm39) |
Q867R |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,402 (GRCm39) |
I294T |
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 |
|
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'- GTTCGTGGTTCCTCAAATAAAGAC -3'
(R):5'- GCGGGTTAGGTATACATGGC -3'
Sequencing Primer
(F):5'- GACTTCACTCCTGGTAGAGACAAG -3'
(R):5'- CAGTTTGCCACCACTGGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation