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 |
122568980-122601780 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 122598711 bp (GRCm39)
|
| 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: 64,055,880 (GRCm39) |
C205* |
probably null |
Het |
| 4921539E11Rik |
T |
A |
4: 103,127,961 (GRCm39) |
T55S |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,263,855 (GRCm39) |
D88G |
probably benign |
Het |
| Ankrd53 |
C |
A |
6: 83,740,185 (GRCm39) |
F84L |
probably damaging |
Het |
| Apol7b |
A |
C |
15: 77,307,539 (GRCm39) |
F319V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,748 (GRCm39) |
S1335P |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,936,228 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,450,329 (GRCm39) |
S598P |
probably benign |
Het |
| Commd8 |
T |
C |
5: 72,322,842 (GRCm39) |
H25R |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,198,889 (GRCm39) |
I143V |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,295,342 (GRCm39) |
T483S |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,530,234 (GRCm39) |
M244I |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,098,953 (GRCm39) |
H1982P |
possibly damaging |
Het |
| Fam220a |
C |
A |
5: 143,548,882 (GRCm39) |
P98Q |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,517 (GRCm39) |
K29E |
possibly damaging |
Het |
| Gm14569 |
A |
C |
X: 35,695,781 (GRCm39) |
M976R |
probably benign |
Het |
| Hck |
G |
T |
2: 152,971,776 (GRCm39) |
W112C |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,986,441 (GRCm39) |
S591T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,399,415 (GRCm39) |
S242P |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,351,947 (GRCm39) |
S333P |
probably benign |
Het |
| Hoxc6 |
T |
C |
15: 102,918,439 (GRCm39) |
|
probably null |
Het |
| Inpp5j |
G |
A |
11: 3,452,150 (GRCm39) |
P367S |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,009,343 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
T |
A |
18: 77,409,338 (GRCm39) |
I194N |
possibly damaging |
Het |
| Miga1 |
CCAGGGCAG |
CCAG |
3: 152,040,941 (GRCm39) |
|
probably null |
Het |
| Mkln1 |
C |
T |
6: 31,467,465 (GRCm39) |
Q60* |
probably null |
Het |
| Muc21 |
T |
A |
17: 35,933,857 (GRCm39) |
|
probably benign |
Het |
| Mybph |
C |
A |
1: 134,124,734 (GRCm39) |
H185N |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,470,829 (GRCm39) |
D9G |
possibly damaging |
Het |
| Myo6 |
A |
T |
9: 80,136,207 (GRCm39) |
D110V |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,567,295 (GRCm39) |
V412A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,357 (GRCm39) |
K1328R |
probably damaging |
Het |
| Olfm5 |
T |
A |
7: 103,813,948 (GRCm39) |
Q22L |
unknown |
Het |
| Or10ak7 |
A |
T |
4: 118,791,381 (GRCm39) |
Y221* |
probably null |
Het |
| Or4d11 |
T |
C |
19: 12,013,705 (GRCm39) |
T134A |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,879,179 (GRCm39) |
V134M |
possibly damaging |
Het |
| Or6b3 |
C |
A |
1: 92,439,499 (GRCm39) |
G84C |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,657 (GRCm39) |
I221N |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,114 (GRCm39) |
Y36C |
probably damaging |
Het |
| P3h1 |
A |
T |
4: 119,105,173 (GRCm39) |
Q717L |
probably null |
Het |
| Pclo |
T |
C |
5: 14,763,809 (GRCm39) |
I4094T |
unknown |
Het |
| Pfdn6 |
G |
A |
17: 34,158,051 (GRCm39) |
R73W |
probably benign |
Het |
| Phyhipl |
A |
C |
10: 70,395,591 (GRCm39) |
M205R |
possibly damaging |
Het |
| Pitpnm1 |
C |
T |
19: 4,157,973 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,594,498 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
A |
G |
17: 13,125,392 (GRCm39) |
S81P |
possibly damaging |
Het |
| Pno1 |
T |
C |
11: 17,154,519 (GRCm39) |
I221V |
possibly damaging |
Het |
| Porcn |
A |
G |
X: 8,070,540 (GRCm39) |
V75A |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,353,862 (GRCm39) |
C69S |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,930 (GRCm39) |
N325K |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scly |
A |
G |
1: 91,247,891 (GRCm39) |
D413G |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,609,861 (GRCm39) |
R996* |
probably null |
Het |
| Skic3 |
T |
C |
13: 76,282,934 (GRCm39) |
V752A |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,309,332 (GRCm39) |
D281V |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,847,442 (GRCm39) |
V109A |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,289,703 (GRCm39) |
|
probably null |
Het |
| Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
| Stag1 |
T |
G |
9: 100,770,139 (GRCm39) |
I603S |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,097,292 (GRCm39) |
C1417F |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,009,714 (GRCm39) |
I392V |
probably benign |
Het |
| Tchh |
T |
C |
3: 93,354,106 (GRCm39) |
L1182P |
unknown |
Het |
| Tle3 |
T |
A |
9: 61,301,915 (GRCm39) |
V108E |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,707 (GRCm39) |
|
probably null |
Het |
| Tpr |
T |
G |
1: 150,295,658 (GRCm39) |
L894V |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 72,871,874 (GRCm39) |
V472E |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,975,081 (GRCm39) |
V340A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,136,494 (GRCm39) |
I197N |
possibly damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,986,111 (GRCm39) |
Y26C |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,358,177 (GRCm39) |
I83V |
probably null |
Het |
| Xirp1 |
C |
T |
9: 119,847,657 (GRCm39) |
E409K |
probably benign |
Het |
| Zc3h14 |
T |
G |
12: 98,730,181 (GRCm39) |
I46R |
probably damaging |
Het |
| Zfp976 |
A |
G |
7: 42,263,265 (GRCm39) |
C191R |
probably 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 |
|
|
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 |
|
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'- TCCTGAACCCAGAGCTACTG -3'
(R):5'- CATCCTTCTGAGAAGACGAGGAAG -3'
Sequencing Primer
(F):5'- CTACTGGAGACGTCTAGGAAATGC -3'
(R):5'- ACAGAGTCAATCTTTGTAGCCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation