Incidental Mutation 'R1978:Rbbp6'
| ID |
222014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| MMRRC Submission |
039991-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1978 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122965686-123002557 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 122999488 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000205495]
[ENSMUST00000231323]
|
| AlphaFold |
P97868 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000052135
AA Change: K1007N
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: K1007N
| 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: K973N
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: K973N
| 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 |
noncoding transcript
Transcript: ENSMUST00000206967
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231323
AA Change: K1045N
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 63,898,537 (GRCm38) |
C205* |
probably null |
Het |
| 2810474O19Rik |
T |
A |
6: 149,326,432 (GRCm38) |
N325K |
probably benign |
Het |
| 4921539E11Rik |
T |
A |
4: 103,270,764 (GRCm38) |
T55S |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,313,855 (GRCm38) |
D88G |
probably benign |
Het |
| Ankrd53 |
C |
A |
6: 83,763,203 (GRCm38) |
F84L |
probably damaging |
Het |
| Apol7b |
A |
C |
15: 77,423,339 (GRCm38) |
F319V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 108,114,549 (GRCm38) |
S1335P |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,803,158 (GRCm38) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,593,132 (GRCm38) |
S598P |
probably benign |
Het |
| Commd8 |
T |
C |
5: 72,165,499 (GRCm38) |
H25R |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,128,665 (GRCm38) |
I143V |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,438,145 (GRCm38) |
T483S |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,632,353 (GRCm38) |
M244I |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,121,970 (GRCm38) |
H1982P |
possibly damaging |
Het |
| Fam220a |
C |
A |
5: 143,563,127 (GRCm38) |
P98Q |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,029,543 (GRCm38) |
K29E |
possibly damaging |
Het |
| Gm14569 |
A |
C |
X: 36,432,128 (GRCm38) |
M976R |
probably benign |
Het |
| Gm9573 |
T |
A |
17: 35,622,965 (GRCm38) |
|
probably benign |
Het |
| Hck |
G |
T |
2: 153,129,856 (GRCm38) |
W112C |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,939,658 (GRCm38) |
S591T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,717,107 (GRCm38) |
S242P |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,044,518 (GRCm38) |
S333P |
probably benign |
Het |
| Hoxc6 |
T |
C |
15: 103,010,007 (GRCm38) |
|
probably null |
Het |
| Inpp5j |
G |
A |
11: 3,502,150 (GRCm38) |
P367S |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,133,597 (GRCm38) |
|
probably null |
Het |
| Loxhd1 |
T |
A |
18: 77,321,642 (GRCm38) |
I194N |
possibly damaging |
Het |
| Miga1 |
CCAGGGCAG |
CCAG |
3: 152,335,304 (GRCm38) |
|
probably null |
Het |
| Mkln1 |
C |
T |
6: 31,490,530 (GRCm38) |
Q60* |
probably null |
Het |
| Mybph |
C |
A |
1: 134,196,996 (GRCm38) |
H185N |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,520,829 (GRCm38) |
D9G |
possibly damaging |
Het |
| Myo6 |
A |
T |
9: 80,228,925 (GRCm38) |
D110V |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,691,299 (GRCm38) |
V412A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,287,345 (GRCm38) |
K1328R |
probably damaging |
Het |
| Olfm5 |
T |
A |
7: 104,164,741 (GRCm38) |
Q22L |
unknown |
Het |
| Olfr1106 |
C |
T |
2: 87,048,835 (GRCm38) |
V134M |
possibly damaging |
Het |
| Olfr1328 |
A |
T |
4: 118,934,184 (GRCm38) |
Y221* |
probably null |
Het |
| Olfr1355 |
A |
G |
10: 78,879,280 (GRCm38) |
Y36C |
probably damaging |
Het |
| Olfr1414 |
C |
A |
1: 92,511,777 (GRCm38) |
G84C |
probably damaging |
Het |
| Olfr1423 |
T |
C |
19: 12,036,341 (GRCm38) |
T134A |
probably benign |
Het |
| Olfr414 |
T |
A |
1: 174,431,091 (GRCm38) |
I221N |
probably damaging |
Het |
| P3h1 |
A |
T |
4: 119,247,976 (GRCm38) |
Q717L |
probably null |
Het |
| Pclo |
T |
C |
5: 14,713,795 (GRCm38) |
I4094T |
unknown |
Het |
| Pfdn6 |
G |
A |
17: 33,939,077 (GRCm38) |
R73W |
probably benign |
Het |
| Phyhipl |
A |
C |
10: 70,559,761 (GRCm38) |
M205R |
possibly damaging |
Het |
| Pitpnm1 |
C |
T |
19: 4,107,973 (GRCm38) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,752,578 (GRCm38) |
|
probably null |
Het |
| Pnldc1 |
A |
G |
17: 12,906,505 (GRCm38) |
S81P |
possibly damaging |
Het |
| Pno1 |
T |
C |
11: 17,204,519 (GRCm38) |
I221V |
possibly damaging |
Het |
| Porcn |
A |
G |
X: 8,204,301 (GRCm38) |
V75A |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,305,346 (GRCm38) |
C69S |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Scly |
A |
G |
1: 91,320,169 (GRCm38) |
D413G |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,780,795 (GRCm38) |
R996* |
probably null |
Het |
| Slc6a13 |
A |
T |
6: 121,332,373 (GRCm38) |
D281V |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,956,616 (GRCm38) |
V109A |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,312,719 (GRCm38) |
|
probably null |
Het |
| Snx29 |
T |
A |
16: 11,367,724 (GRCm38) |
M57K |
probably benign |
Het |
| Stag1 |
T |
G |
9: 100,888,086 (GRCm38) |
I603S |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,097,292 (GRCm38) |
C1417F |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,189,351 (GRCm38) |
I392V |
probably benign |
Het |
| Tchh |
T |
C |
3: 93,446,799 (GRCm38) |
L1182P |
unknown |
Het |
| Tle3 |
T |
A |
9: 61,394,633 (GRCm38) |
V108E |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,825,400 (GRCm38) |
|
probably null |
Het |
| Tpr |
T |
G |
1: 150,419,907 (GRCm38) |
L894V |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 73,000,025 (GRCm38) |
V472E |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,791,098 (GRCm38) |
V340A |
probably damaging |
Het |
| Ttc37 |
T |
C |
13: 76,134,815 (GRCm38) |
V752A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,159,509 (GRCm38) |
I197N |
possibly damaging |
Het |
| Vmn1r26 |
T |
C |
6: 58,009,126 (GRCm38) |
Y26C |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,758,954 (GRCm38) |
I83V |
probably null |
Het |
| Xirp1 |
C |
T |
9: 120,018,591 (GRCm38) |
E409K |
probably benign |
Het |
| Zc3h14 |
T |
G |
12: 98,763,922 (GRCm38) |
I46R |
probably damaging |
Het |
| Zfp976 |
A |
G |
7: 42,613,841 (GRCm38) |
C191R |
probably damaging |
Het |
|
| Other mutations in Rbbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Rbbp6
|
APN |
7 |
122,988,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00561:Rbbp6
|
APN |
7 |
122,971,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01144:Rbbp6
|
APN |
7 |
122,975,946 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01325:Rbbp6
|
APN |
7 |
122,988,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01520:Rbbp6
|
APN |
7 |
122,985,675 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01765:Rbbp6
|
APN |
7 |
122,999,954 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01985:Rbbp6
|
APN |
7 |
122,971,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02094:Rbbp6
|
APN |
7 |
122,997,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Rbbp6
|
APN |
7 |
122,971,129 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02552:Rbbp6
|
APN |
7 |
122,982,981 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02805:Rbbp6
|
APN |
7 |
123,001,188 (GRCm38) |
utr 3 prime |
probably benign |
|
|
changeling
|
UTSW |
7 |
122,997,311 (GRCm38) |
splice site |
probably null |
|
|
Puzzlewit
|
UTSW |
7 |
122,999,808 (GRCm38) |
unclassified |
probably benign |
|
|
R0403:Rbbp6
|
UTSW |
7 |
122,992,296 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0855:Rbbp6
|
UTSW |
7 |
122,992,248 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1132:Rbbp6
|
UTSW |
7 |
123,000,113 (GRCm38) |
unclassified |
probably benign |
|
|
R1463:Rbbp6
|
UTSW |
7 |
122,992,453 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1867:Rbbp6
|
UTSW |
7 |
122,997,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1957:Rbbp6
|
UTSW |
7 |
122,990,288 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1958:Rbbp6
|
UTSW |
7 |
123,001,945 (GRCm38) |
unclassified |
probably benign |
|
|
R1999:Rbbp6
|
UTSW |
7 |
122,990,352 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2164:Rbbp6
|
UTSW |
7 |
122,999,474 (GRCm38) |
unclassified |
probably benign |
|
|
R4181:Rbbp6
|
UTSW |
7 |
122,994,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4387:Rbbp6
|
UTSW |
7 |
122,997,311 (GRCm38) |
splice site |
probably null |
|
|
R4583:Rbbp6
|
UTSW |
7 |
123,001,952 (GRCm38) |
unclassified |
probably benign |
|
|
R4936:Rbbp6
|
UTSW |
7 |
122,999,703 (GRCm38) |
unclassified |
probably benign |
|
|
R4974:Rbbp6
|
UTSW |
7 |
122,999,808 (GRCm38) |
unclassified |
probably benign |
|
|
R4998:Rbbp6
|
UTSW |
7 |
122,990,326 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5082:Rbbp6
|
UTSW |
7 |
123,000,702 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5502:Rbbp6
|
UTSW |
7 |
122,988,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5567:Rbbp6
|
UTSW |
7 |
123,001,834 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5570:Rbbp6
|
UTSW |
7 |
123,001,834 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5607:Rbbp6
|
UTSW |
7 |
122,997,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5608:Rbbp6
|
UTSW |
7 |
122,997,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5948:Rbbp6
|
UTSW |
7 |
122,997,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6134:Rbbp6
|
UTSW |
7 |
122,997,311 (GRCm38) |
splice site |
probably null |
|
|
R6172:Rbbp6
|
UTSW |
7 |
122,998,555 (GRCm38) |
nonsense |
probably null |
|
|
R6773:Rbbp6
|
UTSW |
7 |
122,999,355 (GRCm38) |
unclassified |
probably benign |
|
|
R6800:Rbbp6
|
UTSW |
7 |
122,985,064 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7266:Rbbp6
|
UTSW |
7 |
123,001,367 (GRCm38) |
missense |
unknown |
|
|
R7298:Rbbp6
|
UTSW |
7 |
123,001,194 (GRCm38) |
missense |
unknown |
|
|
R7535:Rbbp6
|
UTSW |
7 |
122,990,143 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7635:Rbbp6
|
UTSW |
7 |
122,976,008 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7665:Rbbp6
|
UTSW |
7 |
122,990,032 (GRCm38) |
splice site |
probably null |
|
|
R7665:Rbbp6
|
UTSW |
7 |
122,994,686 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7910:Rbbp6
|
UTSW |
7 |
122,997,028 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7956:Rbbp6
|
UTSW |
7 |
123,001,338 (GRCm38) |
missense |
unknown |
|
|
R8043:Rbbp6
|
UTSW |
7 |
122,985,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8273:Rbbp6
|
UTSW |
7 |
122,990,324 (GRCm38) |
missense |
probably benign |
0.36 |
|
R8473:Rbbp6
|
UTSW |
7 |
123,001,198 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R8679:Rbbp6
|
UTSW |
7 |
123,001,293 (GRCm38) |
missense |
unknown |
|
|
R8712:Rbbp6
|
UTSW |
7 |
123,001,753 (GRCm38) |
missense |
unknown |
|
|
R8802:Rbbp6
|
UTSW |
7 |
122,988,457 (GRCm38) |
intron |
probably benign |
|
|
R8911:Rbbp6
|
UTSW |
7 |
122,992,045 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9152:Rbbp6
|
UTSW |
7 |
123,001,474 (GRCm38) |
missense |
unknown |
|
|
R9159:Rbbp6
|
UTSW |
7 |
122,990,205 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9308:Rbbp6
|
UTSW |
7 |
122,996,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9438:Rbbp6
|
UTSW |
7 |
123,000,233 (GRCm38) |
missense |
|
|
|
R9509:Rbbp6
|
UTSW |
7 |
122,998,568 (GRCm38) |
missense |
unknown |
|
|
R9608:Rbbp6
|
UTSW |
7 |
122,992,045 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9636:Rbbp6
|
UTSW |
7 |
123,001,952 (GRCm38) |
unclassified |
probably benign |
|
|
R9707:Rbbp6
|
UTSW |
7 |
122,989,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Rbbp6
|
UTSW |
7 |
123,000,146 (GRCm38) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGAACCCAGAGCTACTG -3'
(R):5'- CATCCTTCTGAGAAGACGAGGAAG -3'
Sequencing Primer
(F):5'- CTACTGGAGACGTCTAGGAAATGC -3'
(R):5'- ACAGAGTCAATCTTTGTAGCCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation