Incidental Mutation 'IGL03240:Mybbp1a'
ID |
414252 |
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 # |
IGL03240
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
72332181-72342594 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72336492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 495
(T495A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045633]
|
AlphaFold |
Q7TPV4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045633
AA Change: T495A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000044827 Gene: ENSMUSG00000040463 AA Change: T495A
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: ENSMUST00000144923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155995
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,350,365 (GRCm39) |
|
probably benign |
Het |
AA467197 |
A |
G |
2: 122,481,182 (GRCm39) |
T57A |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,733,345 (GRCm39) |
D1852E |
probably damaging |
Het |
Arg2 |
T |
A |
12: 79,178,605 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,845,107 (GRCm39) |
D1437G |
probably benign |
Het |
AW551984 |
C |
A |
9: 39,500,418 (GRCm39) |
R780L |
probably benign |
Het |
Baz1a |
T |
A |
12: 54,974,352 (GRCm39) |
K503* |
probably null |
Het |
Bltp3a |
C |
A |
17: 28,112,227 (GRCm39) |
N1167K |
probably benign |
Het |
Cdk2ap1 |
A |
T |
5: 124,484,207 (GRCm39) |
H96Q |
probably damaging |
Het |
Col11a1 |
T |
A |
3: 114,010,859 (GRCm39) |
|
probably null |
Het |
Col12a1 |
A |
T |
9: 79,585,665 (GRCm39) |
|
probably null |
Het |
Col22a1 |
G |
A |
15: 71,679,777 (GRCm39) |
P877S |
unknown |
Het |
Col7a1 |
A |
T |
9: 108,797,441 (GRCm39) |
N1681Y |
probably null |
Het |
Dennd1b |
T |
G |
1: 139,067,130 (GRCm39) |
S398A |
possibly damaging |
Het |
Fgd2 |
C |
T |
17: 29,580,135 (GRCm39) |
|
probably benign |
Het |
Hadh |
T |
C |
3: 131,042,192 (GRCm39) |
S98G |
probably benign |
Het |
Has2 |
C |
T |
15: 56,531,656 (GRCm39) |
R353H |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,547,783 (GRCm39) |
S857P |
probably benign |
Het |
Hemgn |
T |
A |
4: 46,400,732 (GRCm39) |
R43* |
probably null |
Het |
Htr4 |
A |
T |
18: 62,570,692 (GRCm39) |
H249L |
possibly damaging |
Het |
Hycc2 |
A |
G |
1: 58,569,076 (GRCm39) |
L501P |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,022,281 (GRCm39) |
S495P |
probably benign |
Het |
Kars1 |
T |
C |
8: 112,732,271 (GRCm39) |
D99G |
probably benign |
Het |
Krt40 |
T |
A |
11: 99,428,394 (GRCm39) |
S333C |
probably damaging |
Het |
Lamc2 |
T |
C |
1: 152,999,871 (GRCm39) |
I1163V |
probably damaging |
Het |
Lrrn2 |
A |
T |
1: 132,866,065 (GRCm39) |
I377F |
possibly damaging |
Het |
Mcm5 |
T |
A |
8: 75,842,530 (GRCm39) |
I268N |
probably damaging |
Het |
Mmp21 |
G |
T |
7: 133,276,300 (GRCm39) |
H514Q |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,701,688 (GRCm39) |
V21E |
probably damaging |
Het |
Nap1l4 |
A |
G |
7: 143,091,982 (GRCm39) |
S49P |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,247,316 (GRCm39) |
S369F |
probably damaging |
Het |
Niban2 |
A |
C |
2: 32,812,109 (GRCm39) |
Y397S |
probably benign |
Het |
Or5g9 |
A |
T |
2: 85,552,675 (GRCm39) |
K309* |
probably null |
Het |
Pon2 |
A |
G |
6: 5,265,316 (GRCm39) |
|
probably benign |
Het |
Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
Psmd6 |
A |
G |
14: 14,112,393 (GRCm38) |
|
probably benign |
Het |
Ptprk |
G |
T |
10: 28,368,957 (GRCm39) |
R643L |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,524,368 (GRCm39) |
Y455F |
probably benign |
Het |
Sec23b |
G |
A |
2: 144,408,679 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,256,465 (GRCm39) |
L751P |
probably damaging |
Het |
Snx6 |
T |
A |
12: 54,830,228 (GRCm39) |
H77L |
probably damaging |
Het |
Svep1 |
C |
A |
4: 58,048,188 (GRCm39) |
C3472F |
possibly damaging |
Het |
Trpd52l3 |
A |
T |
19: 29,981,396 (GRCm39) |
E50D |
probably damaging |
Het |
Ttc33 |
A |
G |
15: 5,246,809 (GRCm39) |
D205G |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,699,797 (GRCm39) |
V352E |
probably benign |
Het |
Tulp2 |
T |
G |
7: 45,171,734 (GRCm39) |
F436C |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,282 (GRCm39) |
M58K |
possibly damaging |
Het |
Vmn2r113 |
T |
C |
17: 23,174,931 (GRCm39) |
V514A |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,862,329 (GRCm39) |
V2982A |
probably benign |
Het |
Ywhaq |
T |
C |
12: 21,445,001 (GRCm39) |
T215A |
possibly damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,135 (GRCm39) |
H64L |
probably damaging |
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 |
IGL03271:Mybbp1a
|
APN |
11 |
72,334,744 (GRCm39) |
splice site |
probably benign |
|
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 |