Incidental Mutation 'IGL03271:Mybbp1a'
ID |
415285 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mybbp1a
|
Ensembl Gene |
ENSMUSG00000040463 |
Gene Name |
MYB binding protein (P160) 1a |
Synonyms |
p67MBP, p160MBP |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03271
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
72332181-72342594 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 72334744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045633]
|
AlphaFold |
Q7TPV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045633
|
SMART Domains |
Protein: ENSMUSP00000044827 Gene: ENSMUSG00000040463
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
Pfam:DNA_pol_phi
|
70 |
835 |
1.2e-194 |
PFAM |
low complexity region
|
839 |
852 |
N/A |
INTRINSIC |
low complexity region
|
1080 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1109 |
1122 |
N/A |
INTRINSIC |
low complexity region
|
1259 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1314 |
1329 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134119
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162048
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality before blastocyst formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
G |
T |
13: 111,392,408 (GRCm39) |
V248L |
probably benign |
Het |
Actl6b |
T |
A |
5: 137,564,246 (GRCm39) |
I256N |
probably damaging |
Het |
Agl |
G |
T |
3: 116,572,776 (GRCm39) |
T825K |
probably benign |
Het |
Arid5b |
A |
T |
10: 67,933,287 (GRCm39) |
S629T |
possibly damaging |
Het |
Atp13a2 |
T |
C |
4: 140,727,708 (GRCm39) |
I495T |
possibly damaging |
Het |
Bcl6 |
G |
T |
16: 23,788,756 (GRCm39) |
H537Q |
probably benign |
Het |
Cdh12 |
A |
G |
15: 21,586,539 (GRCm39) |
E786G |
probably benign |
Het |
Cep290 |
T |
A |
10: 100,373,663 (GRCm39) |
N1307K |
probably benign |
Het |
Cops3 |
A |
T |
11: 59,723,889 (GRCm39) |
N89K |
probably damaging |
Het |
Cyp4a29 |
T |
C |
4: 115,111,705 (GRCm39) |
V494A |
probably damaging |
Het |
Dlg1 |
A |
G |
16: 31,676,710 (GRCm39) |
H675R |
possibly damaging |
Het |
Dnajc6 |
T |
A |
4: 101,365,274 (GRCm39) |
|
probably benign |
Het |
Dock10 |
C |
A |
1: 80,483,126 (GRCm39) |
K2107N |
probably damaging |
Het |
Dop1a |
T |
A |
9: 86,386,275 (GRCm39) |
L382* |
probably null |
Het |
Faxc |
A |
C |
4: 21,948,757 (GRCm39) |
K156N |
possibly damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gapvd1 |
C |
A |
2: 34,617,219 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
T |
C |
3: 67,382,076 (GRCm39) |
Y717H |
probably damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,699 (GRCm39) |
T223S |
probably benign |
Het |
Gstm3 |
C |
A |
3: 107,873,513 (GRCm39) |
V153F |
possibly damaging |
Het |
H2-M10.5 |
G |
T |
17: 37,084,243 (GRCm39) |
L68F |
possibly damaging |
Het |
Hmcn1 |
G |
T |
1: 150,474,175 (GRCm39) |
H4756N |
possibly damaging |
Het |
Ift140 |
C |
A |
17: 25,306,880 (GRCm39) |
R872S |
probably damaging |
Het |
Lars2 |
T |
A |
9: 123,288,549 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
A |
G |
7: 27,029,240 (GRCm39) |
V149A |
unknown |
Het |
Mpp2 |
A |
T |
11: 101,954,249 (GRCm39) |
|
probably benign |
Het |
Nxpe4 |
C |
A |
9: 48,304,345 (GRCm39) |
P144Q |
probably damaging |
Het |
Or13p3 |
T |
A |
4: 118,566,982 (GRCm39) |
I126N |
probably damaging |
Het |
Or5p6 |
C |
T |
7: 107,630,714 (GRCm39) |
V279M |
probably damaging |
Het |
Parp4 |
C |
A |
14: 56,823,082 (GRCm39) |
N67K |
probably benign |
Het |
Pdk1 |
G |
T |
2: 71,710,374 (GRCm39) |
|
probably benign |
Het |
Phip |
A |
T |
9: 82,766,877 (GRCm39) |
|
probably benign |
Het |
Pls1 |
A |
G |
9: 95,658,883 (GRCm39) |
S202P |
probably benign |
Het |
Pmpcb |
A |
G |
5: 21,943,874 (GRCm39) |
Y36C |
probably benign |
Het |
Pole |
T |
C |
5: 110,466,185 (GRCm39) |
S1296P |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,610,014 (GRCm39) |
S4P |
probably damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sec61a2 |
A |
T |
2: 5,887,745 (GRCm39) |
L79* |
probably null |
Het |
Slc2a5 |
T |
C |
4: 150,220,040 (GRCm39) |
L152P |
probably damaging |
Het |
Smu1 |
C |
T |
4: 40,738,408 (GRCm39) |
G442D |
probably benign |
Het |
Spag16 |
T |
A |
1: 69,892,511 (GRCm39) |
N97K |
probably benign |
Het |
Spag6l |
C |
T |
16: 16,598,592 (GRCm39) |
D300N |
probably damaging |
Het |
Sult3a1 |
A |
G |
10: 33,739,997 (GRCm39) |
T19A |
probably benign |
Het |
Ttll6 |
A |
G |
11: 96,047,513 (GRCm39) |
H704R |
probably benign |
Het |
Uba1 |
T |
A |
X: 20,541,956 (GRCm39) |
D569E |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,205,473 (GRCm39) |
Y689* |
probably null |
Het |
Unc80 |
A |
G |
1: 66,734,762 (GRCm39) |
|
probably benign |
Het |
Utp15 |
C |
A |
13: 98,390,202 (GRCm39) |
V282F |
probably damaging |
Het |
Vmn1r184 |
A |
G |
7: 25,967,034 (GRCm39) |
Y260C |
probably benign |
Het |
Vmn1r69 |
A |
G |
7: 10,314,596 (GRCm39) |
V45A |
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
probably benign |
Het |
|
Other mutations in Mybbp1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:Mybbp1a
|
APN |
11 |
72,334,393 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:Mybbp1a
|
APN |
11 |
72,336,492 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03344:Mybbp1a
|
APN |
11 |
72,336,028 (GRCm39) |
missense |
probably damaging |
1.00 |
fratelli
|
UTSW |
11 |
72,336,538 (GRCm39) |
missense |
probably benign |
0.02 |
primi
|
UTSW |
11 |
72,333,727 (GRCm39) |
splice site |
probably null |
|
sorelli
|
UTSW |
11 |
72,338,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0276:Mybbp1a
|
UTSW |
11 |
72,340,933 (GRCm39) |
splice site |
probably null |
|
R0437:Mybbp1a
|
UTSW |
11 |
72,339,674 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0551:Mybbp1a
|
UTSW |
11 |
72,339,202 (GRCm39) |
missense |
probably benign |
0.06 |
R1394:Mybbp1a
|
UTSW |
11 |
72,334,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R1667:Mybbp1a
|
UTSW |
11 |
72,336,043 (GRCm39) |
missense |
probably benign |
0.00 |
R1888:Mybbp1a
|
UTSW |
11 |
72,336,863 (GRCm39) |
missense |
probably benign |
0.18 |
R1888:Mybbp1a
|
UTSW |
11 |
72,336,863 (GRCm39) |
missense |
probably benign |
0.18 |
R1891:Mybbp1a
|
UTSW |
11 |
72,336,863 (GRCm39) |
missense |
probably benign |
0.18 |
R1894:Mybbp1a
|
UTSW |
11 |
72,336,863 (GRCm39) |
missense |
probably benign |
0.18 |
R2074:Mybbp1a
|
UTSW |
11 |
72,332,271 (GRCm39) |
missense |
probably benign |
0.01 |
R2257:Mybbp1a
|
UTSW |
11 |
72,337,021 (GRCm39) |
missense |
probably benign |
0.10 |
R3739:Mybbp1a
|
UTSW |
11 |
72,339,563 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3983:Mybbp1a
|
UTSW |
11 |
72,337,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R4191:Mybbp1a
|
UTSW |
11 |
72,342,113 (GRCm39) |
missense |
probably damaging |
0.97 |
R4660:Mybbp1a
|
UTSW |
11 |
72,336,538 (GRCm39) |
missense |
probably benign |
0.02 |
R4667:Mybbp1a
|
UTSW |
11 |
72,338,797 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4769:Mybbp1a
|
UTSW |
11 |
72,336,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R4982:Mybbp1a
|
UTSW |
11 |
72,336,040 (GRCm39) |
missense |
probably damaging |
0.99 |
R5451:Mybbp1a
|
UTSW |
11 |
72,338,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R5514:Mybbp1a
|
UTSW |
11 |
72,341,462 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5548:Mybbp1a
|
UTSW |
11 |
72,336,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R5673:Mybbp1a
|
UTSW |
11 |
72,335,751 (GRCm39) |
missense |
probably benign |
0.30 |
R5947:Mybbp1a
|
UTSW |
11 |
72,333,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R6161:Mybbp1a
|
UTSW |
11 |
72,336,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R6785:Mybbp1a
|
UTSW |
11 |
72,338,392 (GRCm39) |
missense |
probably benign |
0.00 |
R7154:Mybbp1a
|
UTSW |
11 |
72,338,468 (GRCm39) |
splice site |
probably null |
|
R7227:Mybbp1a
|
UTSW |
11 |
72,338,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7238:Mybbp1a
|
UTSW |
11 |
72,334,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Mybbp1a
|
UTSW |
11 |
72,342,101 (GRCm39) |
missense |
probably benign |
0.01 |
R7833:Mybbp1a
|
UTSW |
11 |
72,333,727 (GRCm39) |
splice site |
probably null |
|
R8213:Mybbp1a
|
UTSW |
11 |
72,335,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Mybbp1a
|
UTSW |
11 |
72,336,114 (GRCm39) |
critical splice donor site |
probably null |
|
R8474:Mybbp1a
|
UTSW |
11 |
72,338,563 (GRCm39) |
missense |
probably benign |
0.01 |
R8972:Mybbp1a
|
UTSW |
11 |
72,337,076 (GRCm39) |
missense |
probably benign |
0.35 |
R9018:Mybbp1a
|
UTSW |
11 |
72,334,420 (GRCm39) |
missense |
probably benign |
0.09 |
R9380:Mybbp1a
|
UTSW |
11 |
72,333,668 (GRCm39) |
missense |
probably benign |
0.24 |
R9505:Mybbp1a
|
UTSW |
11 |
72,339,897 (GRCm39) |
missense |
probably benign |
0.26 |
X0050:Mybbp1a
|
UTSW |
11 |
72,332,503 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2016-08-02 |