Incidental Mutation 'IGL02552:Rbbp6'
| ID |
298144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 122582204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 108
(S108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000098062]
[ENSMUST00000231323]
|
| AlphaFold |
P97868 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052135
AA Change: S108A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: S108A
| 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: S108A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: S108A
| 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: ENSMUST00000098062
|
| SMART Domains |
Protein: ENSMUSP00000095670
Gene: ENSMUSG00000030779
| Domain | Start | End | E-Value | Type |
|---|
|
DWNN
|
4 |
76 |
3.92e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206179
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231323
AA Change: S108A
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,208,145 (GRCm39) |
L178S |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,333,906 (GRCm39) |
Y1199H |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,446,035 (GRCm39) |
M977K |
possibly damaging |
Het |
| Arhgap30 |
T |
A |
1: 171,235,324 (GRCm39) |
L566Q |
probably damaging |
Het |
| Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,332,965 (GRCm39) |
S349F |
possibly damaging |
Het |
| Bard1 |
T |
C |
1: 71,104,815 (GRCm39) |
|
probably benign |
Het |
| Batf2 |
T |
A |
19: 6,221,537 (GRCm39) |
Y116N |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,642,605 (GRCm39) |
L10* |
probably null |
Het |
| Cbx6 |
T |
C |
15: 79,713,094 (GRCm39) |
H111R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,679,076 (GRCm39) |
N242I |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,525,012 (GRCm39) |
Q184* |
probably null |
Het |
| Chd2 |
C |
A |
7: 73,097,068 (GRCm39) |
|
probably benign |
Het |
| Cmtm6 |
G |
A |
9: 114,566,374 (GRCm39) |
V88M |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,179,962 (GRCm39) |
S1151R |
possibly damaging |
Het |
| Csta2 |
A |
G |
16: 36,073,459 (GRCm39) |
E15G |
probably damaging |
Het |
| Degs1l |
T |
A |
1: 180,882,463 (GRCm39) |
V75E |
possibly damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,988,061 (GRCm39) |
D6G |
probably damaging |
Het |
| Eif3a |
G |
A |
19: 60,751,664 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,254,633 (GRCm39) |
C210F |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,286 (GRCm39) |
D1380E |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,304,375 (GRCm39) |
K588N |
probably damaging |
Het |
| Gm18856 |
G |
A |
13: 14,139,805 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
G |
T |
6: 25,688,686 (GRCm39) |
T137K |
probably benign |
Het |
| Gzmc |
T |
C |
14: 56,472,039 (GRCm39) |
M1V |
probably null |
Het |
| Htr5a |
T |
C |
5: 28,047,958 (GRCm39) |
V171A |
probably benign |
Het |
| Ints6l |
T |
C |
X: 55,500,557 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,436,327 (GRCm39) |
|
probably null |
Het |
| Krt35 |
C |
T |
11: 99,983,899 (GRCm39) |
G367D |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,063,057 (GRCm39) |
V668I |
possibly damaging |
Het |
| Nlrp1b |
C |
T |
11: 71,072,878 (GRCm39) |
V322I |
possibly damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,823 (GRCm39) |
N228D |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,655,994 (GRCm39) |
R496W |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,903 (GRCm39) |
V250A |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,671,463 (GRCm39) |
G21W |
probably damaging |
Het |
| Pah |
C |
T |
10: 87,414,707 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
G |
T |
10: 128,154,896 (GRCm39) |
W1112L |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,970,879 (GRCm39) |
R209Q |
probably damaging |
Het |
| Plaa |
C |
T |
4: 94,470,717 (GRCm39) |
|
probably null |
Het |
| Qprt |
C |
T |
7: 126,708,027 (GRCm39) |
A135T |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,795,117 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,125,235 (GRCm39) |
C368S |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,908,486 (GRCm39) |
I1734N |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,669,031 (GRCm39) |
L170F |
probably damaging |
Het |
| Tesmin |
C |
T |
19: 3,452,483 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,949,530 (GRCm39) |
C1697* |
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,785,690 (GRCm39) |
S587P |
probably benign |
Het |
| Tmem208 |
G |
A |
8: 106,055,329 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,121,623 (GRCm39) |
Q224R |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,682,699 (GRCm39) |
D390V |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,858,589 (GRCm39) |
I807V |
probably benign |
Het |
| Utp18 |
C |
A |
11: 93,759,160 (GRCm39) |
C438F |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,899,707 (GRCm39) |
K191E |
possibly damaging |
Het |
| Wdr27 |
A |
G |
17: 15,146,453 (GRCm39) |
S181P |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation