Incidental Mutation 'R9438:Rbbp6'
ID |
713373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbbp6
|
Ensembl Gene |
ENSMUSG00000030779 |
Gene Name |
retinoblastoma binding protein 6, ubiquitin ligase |
Synonyms |
C030034J04Rik, 4933422O15Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9438 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
122568980-122601780 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 122599456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1256
(V1256I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052135]
[ENSMUST00000071590]
[ENSMUST00000205495]
[ENSMUST00000231323]
|
AlphaFold |
P97868 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000049528 Gene: ENSMUSG00000030779 AA Change: V1256I
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: V1222I
|
SMART Domains |
Protein: ENSMUSP00000071519 Gene: ENSMUSG00000030779 AA Change: V1222I
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: V1294I
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (60/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp2 |
G |
A |
2: 91,033,339 (GRCm39) |
M20I |
probably benign |
Het |
Adgra1 |
C |
T |
7: 139,432,525 (GRCm39) |
P121L |
probably benign |
Het |
Arhgap39 |
C |
A |
15: 76,636,118 (GRCm39) |
R39L |
probably damaging |
Het |
Atp1b3 |
A |
T |
9: 96,215,631 (GRCm39) |
N261K |
possibly damaging |
Het |
Atp8b3 |
C |
T |
10: 80,361,409 (GRCm39) |
A838T |
probably damaging |
Het |
Cacng8 |
G |
A |
7: 3,463,919 (GRCm39) |
S357N |
unknown |
Het |
Calhm5 |
T |
C |
10: 33,972,049 (GRCm39) |
M129V |
probably benign |
Het |
Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
Cdk19 |
T |
A |
10: 40,352,176 (GRCm39) |
D319E |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,799,078 (GRCm39) |
S2336P |
probably benign |
Het |
Cntn1 |
G |
A |
15: 92,144,024 (GRCm39) |
|
probably null |
Het |
Cts6 |
G |
A |
13: 61,350,069 (GRCm39) |
T4I |
probably benign |
Het |
Ddt |
A |
T |
10: 75,607,332 (GRCm39) |
I98N |
probably damaging |
Het |
Diaph1 |
A |
C |
18: 38,026,443 (GRCm39) |
V465G |
unknown |
Het |
Dnah2 |
G |
T |
11: 69,364,220 (GRCm39) |
D2064E |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,827,190 (GRCm39) |
N969D |
probably benign |
Het |
Dot1l |
T |
A |
10: 80,627,120 (GRCm39) |
V1447E |
probably benign |
Het |
Efs |
T |
A |
14: 55,156,868 (GRCm39) |
D389V |
|
Het |
Gbp11 |
T |
A |
5: 105,474,471 (GRCm39) |
K402* |
probably null |
Het |
Grm7 |
A |
T |
6: 111,231,077 (GRCm39) |
D500V |
possibly damaging |
Het |
Hecw1 |
T |
C |
13: 14,481,414 (GRCm39) |
M439V |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,754,434 (GRCm39) |
S551P |
probably benign |
Het |
Igsf9b |
T |
C |
9: 27,243,839 (GRCm39) |
S779P |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,068,166 (GRCm39) |
N2437S |
probably benign |
Het |
Kbtbd12 |
G |
A |
6: 88,591,040 (GRCm39) |
Q391* |
probably null |
Het |
Kcnma1 |
T |
C |
14: 23,417,653 (GRCm39) |
I859V |
probably benign |
Het |
Klri1 |
A |
C |
6: 129,675,879 (GRCm39) |
D130E |
probably benign |
Het |
Krt9 |
A |
G |
11: 100,079,824 (GRCm39) |
Y523H |
unknown |
Het |
Ldhc |
G |
T |
7: 46,515,857 (GRCm39) |
V51F |
possibly damaging |
Het |
Macf1 |
G |
T |
4: 123,279,366 (GRCm39) |
D5890E |
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,045,952 (GRCm39) |
S613G |
probably damaging |
Het |
Mrpl55 |
A |
G |
11: 59,096,581 (GRCm39) |
D118G |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,559,028 (GRCm39) |
T2422A |
unknown |
Het |
Nfkbib |
T |
A |
7: 28,459,654 (GRCm39) |
D219V |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,632 (GRCm39) |
K50E |
probably damaging |
Het |
Nudcd1 |
C |
T |
15: 44,269,321 (GRCm39) |
R113H |
probably benign |
Het |
Or5p55 |
A |
T |
7: 107,567,000 (GRCm39) |
Y132F |
probably damaging |
Het |
Or7e170 |
C |
T |
9: 19,795,083 (GRCm39) |
E173K |
probably benign |
Het |
Or7g19 |
T |
A |
9: 18,856,326 (GRCm39) |
C127* |
probably null |
Het |
Papln |
A |
T |
12: 83,818,606 (GRCm39) |
T63S |
probably benign |
Het |
Pax4 |
T |
C |
6: 28,446,185 (GRCm39) |
I103V |
possibly damaging |
Het |
Pitpnm2 |
G |
A |
5: 124,269,342 (GRCm39) |
H427Y |
probably damaging |
Het |
Plk5 |
T |
A |
10: 80,193,867 (GRCm39) |
V52E |
probably damaging |
Het |
Prr23a4 |
G |
A |
9: 98,785,833 (GRCm39) |
S166N |
probably benign |
Het |
Rab44 |
A |
G |
17: 29,364,226 (GRCm39) |
H600R |
unknown |
Het |
Rexo1 |
T |
A |
10: 80,378,848 (GRCm39) |
T1063S |
possibly damaging |
Het |
Rp1l1 |
A |
G |
14: 64,265,574 (GRCm39) |
R387G |
possibly damaging |
Het |
Rufy3 |
T |
C |
5: 88,796,124 (GRCm39) |
S603P |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,285,944 (GRCm39) |
H330R |
unknown |
Het |
Strc |
A |
T |
2: 121,198,647 (GRCm39) |
W1415R |
probably damaging |
Het |
Tcstv5 |
A |
G |
13: 120,411,363 (GRCm39) |
L81P |
probably benign |
Het |
Terf2 |
C |
A |
8: 107,803,504 (GRCm39) |
A359S |
probably benign |
Het |
Tmod1 |
A |
G |
4: 46,093,958 (GRCm39) |
N223S |
probably damaging |
Het |
Tram2 |
T |
A |
1: 21,075,834 (GRCm39) |
I195F |
possibly damaging |
Het |
Trap1 |
T |
C |
16: 3,883,131 (GRCm39) |
Q148R |
probably benign |
Het |
Tsks |
C |
T |
7: 44,607,095 (GRCm39) |
R143* |
probably null |
Het |
Ttc14 |
T |
A |
3: 33,858,861 (GRCm39) |
H373Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,747,748 (GRCm39) |
K4434E |
probably benign |
Het |
Usp7 |
T |
C |
16: 8,522,833 (GRCm39) |
D347G |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,858,314 (GRCm39) |
E2170G |
|
Het |
Xrn1 |
T |
C |
9: 95,893,287 (GRCm39) |
I1001T |
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 |
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 |
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'- TTGAAAAGCTGGAAAGGACCCC -3'
(R):5'- ATAAATGACGTGGTTCACCTCTC -3'
Sequencing Primer
(F):5'- CAGAAAAGGACAAGATTGCATCATC -3'
(R):5'- TCCCCGACTTGAAACAATGCTG -3'
|
Posted On |
2022-05-16 |