Incidental Mutation 'R3983:Mybbp1a'
ID |
350697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybbp1a
|
Ensembl Gene |
ENSMUSG00000040463 |
Gene Name |
MYB binding protein (P160) 1a |
Synonyms |
p67MBP, p160MBP |
MMRRC Submission |
040944-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3983 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
72332181-72342594 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72337996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 646
(V646A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045303]
[ENSMUST00000045633]
|
AlphaFold |
Q7TPV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045303
|
SMART Domains |
Protein: ENSMUSP00000044418 Gene: ENSMUSG00000040447
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
53 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
104 |
308 |
7.6e-16 |
PFAM |
Pfam:OATP
|
106 |
427 |
7.2e-13 |
PFAM |
Pfam:MFS_1
|
108 |
476 |
2.7e-37 |
PFAM |
transmembrane domain
|
506 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045633
AA Change: V646A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044827 Gene: ENSMUSG00000040463 AA Change: V646A
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: ENSMUST00000129274
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134119
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155995
|
Meta Mutation Damage Score |
0.8106 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (65/65) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,467,220 (GRCm39) |
N138Y |
possibly damaging |
Het |
4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
Abcc6 |
T |
C |
7: 45,644,713 (GRCm39) |
I821V |
probably benign |
Het |
Adam34 |
G |
A |
8: 44,103,806 (GRCm39) |
T613I |
probably benign |
Het |
Ap2b1 |
C |
T |
11: 83,281,542 (GRCm39) |
T816M |
probably damaging |
Het |
Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,770,539 (GRCm39) |
|
probably benign |
Het |
Chrna2 |
G |
T |
14: 66,386,906 (GRCm39) |
V351L |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
Cyp2c50 |
A |
C |
19: 40,101,962 (GRCm39) |
K400T |
possibly damaging |
Het |
Cyp2c54 |
G |
T |
19: 40,034,699 (GRCm39) |
Q324K |
possibly damaging |
Het |
Dcpp2 |
T |
A |
17: 24,119,547 (GRCm39) |
Y120* |
probably null |
Het |
Ddx11 |
C |
T |
17: 66,441,125 (GRCm39) |
R242W |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,272,871 (GRCm39) |
V2333E |
possibly damaging |
Het |
Duxf4 |
T |
A |
10: 58,071,623 (GRCm39) |
N197I |
possibly damaging |
Het |
Eno3 |
T |
A |
11: 70,552,237 (GRCm39) |
F296L |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
Gdap1 |
T |
G |
1: 17,230,131 (GRCm39) |
|
probably benign |
Het |
Gm1587 |
C |
T |
14: 78,032,283 (GRCm39) |
E118K |
unknown |
Het |
Gprin3 |
T |
C |
6: 59,331,545 (GRCm39) |
E254G |
possibly damaging |
Het |
Hcrt |
G |
A |
11: 100,652,679 (GRCm39) |
R112C |
probably damaging |
Het |
Hoxa4 |
A |
T |
6: 52,167,657 (GRCm39) |
Y175N |
probably benign |
Het |
Hydin |
G |
A |
8: 111,118,957 (GRCm39) |
G504R |
probably damaging |
Het |
Il1rl1 |
A |
G |
1: 40,485,823 (GRCm39) |
R325G |
possibly damaging |
Het |
Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,559,042 (GRCm39) |
P1522L |
possibly damaging |
Het |
Kmt2d |
T |
G |
15: 98,743,927 (GRCm39) |
|
probably benign |
Het |
Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
Msr1 |
A |
G |
8: 40,073,059 (GRCm39) |
V164A |
possibly damaging |
Het |
Mybpc3 |
A |
T |
2: 90,965,714 (GRCm39) |
K1175N |
probably benign |
Het |
Myo1c |
T |
A |
11: 75,552,325 (GRCm39) |
L366Q |
probably benign |
Het |
Or12d15 |
T |
C |
17: 37,694,289 (GRCm39) |
V277A |
possibly damaging |
Het |
Or1e22 |
A |
G |
11: 73,376,961 (GRCm39) |
S230P |
possibly damaging |
Het |
Or6f1 |
A |
G |
7: 85,970,942 (GRCm39) |
Y73H |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
Pde4d |
A |
G |
13: 109,876,940 (GRCm39) |
T29A |
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,692,405 (GRCm39) |
E563G |
possibly damaging |
Het |
Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
Rnf44 |
A |
C |
13: 54,830,961 (GRCm39) |
S98R |
probably damaging |
Het |
Samhd1 |
C |
A |
2: 156,965,369 (GRCm39) |
V149L |
possibly damaging |
Het |
Scn4a |
G |
T |
11: 106,238,644 (GRCm39) |
N214K |
probably damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,073,591 (GRCm39) |
N813S |
probably benign |
Het |
Sirt3 |
A |
T |
7: 140,458,025 (GRCm39) |
C41* |
probably null |
Het |
Speg |
C |
A |
1: 75,399,191 (GRCm39) |
P2213T |
probably benign |
Het |
Srcin1 |
T |
G |
11: 97,416,379 (GRCm39) |
E951A |
probably damaging |
Het |
Syn2 |
C |
G |
6: 115,214,259 (GRCm39) |
T161S |
probably benign |
Het |
Tbc1d4 |
T |
C |
14: 101,744,649 (GRCm39) |
T326A |
probably benign |
Het |
Tcstv2a |
G |
T |
13: 120,725,815 (GRCm39) |
A160S |
possibly damaging |
Het |
Tes |
T |
A |
6: 17,099,700 (GRCm39) |
|
probably null |
Het |
Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,553,030 (GRCm39) |
T354A |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,632,705 (GRCm39) |
S12370R |
possibly damaging |
Het |
Twsg1 |
T |
C |
17: 66,236,758 (GRCm39) |
T91A |
probably benign |
Het |
Vmn1r181 |
C |
T |
7: 23,684,234 (GRCm39) |
T233I |
probably benign |
Het |
Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
Het |
Zfp740 |
G |
T |
15: 102,116,678 (GRCm39) |
C56F |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCTGCAGAAAGCTGTGATG -3'
(R):5'- AGGTACAGAAGACGTCACATAC -3'
Sequencing Primer
(F):5'- GTCCTAGGAGACATTCAGACTTGC -3'
(R):5'- GTCACATACTCCCACATATCAGTAG -3'
|
Posted On |
2015-10-08 |