Incidental Mutation 'R6800:Rbbp6'
| ID |
533275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp6
|
| Ensembl Gene |
ENSMUSG00000030779 |
| Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
| Synonyms |
C030034J04Rik, 4933422O15Rik |
| MMRRC Submission |
044913-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122584287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 140
(H140Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000098062]
[ENSMUST00000231323]
|
| AlphaFold |
P97868 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052135
AA Change: H140Q
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: H140Q
| 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 |
possibly damaging
Transcript: ENSMUST00000071590
AA Change: H140Q
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: H140Q
| 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 |
probably benign
Transcript: ENSMUST00000231323
AA Change: H140Q
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0741 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
97% (66/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 60,992,948 (GRCm39) |
P244S |
probably damaging |
Het |
| 9130023H24Rik |
C |
A |
7: 127,836,742 (GRCm39) |
|
probably benign |
Het |
| Acoxl |
A |
T |
2: 127,852,085 (GRCm39) |
Q129L |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,316,268 (GRCm39) |
T32A |
probably benign |
Het |
| Alox15 |
C |
T |
11: 70,235,645 (GRCm39) |
|
probably null |
Het |
| Antxrl |
T |
C |
14: 33,787,864 (GRCm39) |
S296P |
probably damaging |
Het |
| Arrb2 |
G |
T |
11: 70,328,142 (GRCm39) |
G52* |
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,179,105 (GRCm39) |
F2091S |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,309,045 (GRCm39) |
I499N |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,629,719 (GRCm39) |
D683V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,686 (GRCm39) |
D396E |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,326,066 (GRCm39) |
I2700F |
probably damaging |
Het |
| Cypt4 |
A |
T |
9: 24,536,965 (GRCm39) |
N152Y |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,316,467 (GRCm39) |
N1640D |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,379,377 (GRCm39) |
N3704Y |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,963,565 (GRCm39) |
|
probably null |
Het |
| Elac2 |
G |
A |
11: 64,890,265 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,433,029 (GRCm39) |
|
probably null |
Het |
| Espnl |
T |
C |
1: 91,270,351 (GRCm39) |
V386A |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,422,898 (GRCm39) |
|
probably benign |
Het |
| Fdps |
A |
C |
3: 89,008,068 (GRCm39) |
F17V |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,346,898 (GRCm39) |
I576T |
possibly damaging |
Het |
| Gm20939 |
A |
G |
17: 95,184,657 (GRCm39) |
E435G |
possibly damaging |
Het |
| Hivep1 |
G |
A |
13: 42,310,852 (GRCm39) |
V1031I |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,324,603 (GRCm39) |
S4655A |
probably benign |
Het |
| Ifrd1 |
T |
A |
12: 40,273,157 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
T |
7: 80,378,729 (GRCm39) |
T1219K |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,233 (GRCm39) |
E639K |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 20,017,326 (GRCm39) |
*1373W |
probably null |
Het |
| Mia2 |
G |
A |
12: 59,235,332 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,156,896 (GRCm39) |
D313G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,371 (GRCm39) |
S77P |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,367 (GRCm39) |
V17A |
probably benign |
Het |
| Neurod4 |
A |
T |
10: 130,106,661 (GRCm39) |
Y204* |
probably null |
Het |
| Or2n1 |
A |
G |
17: 38,486,013 (GRCm39) |
I13V |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,776,217 (GRCm39) |
V97E |
probably benign |
Het |
| Or5p67 |
G |
A |
7: 107,922,460 (GRCm39) |
T141I |
probably benign |
Het |
| Or6c66b |
A |
T |
10: 129,377,132 (GRCm39) |
H242L |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,596,941 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,580 (GRCm39) |
R550Q |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,323,577 (GRCm39) |
L437P |
possibly damaging |
Het |
| Pianp |
C |
A |
6: 124,978,565 (GRCm39) |
P257T |
possibly damaging |
Het |
| Rfx2 |
A |
G |
17: 57,087,804 (GRCm39) |
I529T |
probably damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,268,599 (GRCm39) |
I1395T |
possibly damaging |
Het |
| Rps6ka2 |
A |
C |
17: 7,519,035 (GRCm39) |
K186Q |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
C |
A |
2: 180,964,256 (GRCm39) |
T85N |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,710,967 (GRCm39) |
N99S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,723,741 (GRCm39) |
G4106D |
possibly damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,437,894 (GRCm39) |
V71A |
probably benign |
Het |
| Sgip1 |
A |
G |
4: 102,778,225 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
G |
A |
8: 106,676,371 (GRCm39) |
T515I |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
| Strbp |
C |
T |
2: 37,515,228 (GRCm39) |
R266Q |
probably damaging |
Het |
| Strn |
G |
T |
17: 78,977,787 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
C |
A |
6: 71,118,264 (GRCm39) |
V55L |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,231,858 (GRCm39) |
Q164L |
unknown |
Het |
| Tmprss6 |
C |
T |
15: 78,324,457 (GRCm39) |
R786H |
probably damaging |
Het |
| Ttc21a |
T |
A |
9: 119,770,268 (GRCm39) |
L113Q |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,038,994 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,191 (GRCm39) |
D465G |
probably damaging |
Het |
| Vmp1 |
A |
C |
11: 86,556,913 (GRCm39) |
|
probably null |
Het |
| Wdcp |
T |
C |
12: 4,901,358 (GRCm39) |
F405L |
probably damaging |
Het |
| Zfhx3 |
A |
T |
8: 109,676,149 (GRCm39) |
T2400S |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,593,860 (GRCm39) |
T702A |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,080 (GRCm39) |
S333G |
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 |
|
|
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'- ACTGTTGTTAAGCACAGCTCG -3'
(R):5'- TAATGACCAGGTTTACCACAACG -3'
Sequencing Primer
(F):5'- ACAGCTCGTTTAGAAGCTGC -3'
(R):5'- TTTACCACAACGAAAGCAGGTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation