Incidental Mutation 'R6161:Mybbp1a'
ID |
489882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybbp1a
|
Ensembl Gene |
ENSMUSG00000040463 |
Gene Name |
MYB binding protein (P160) 1a |
Synonyms |
p67MBP, p160MBP |
MMRRC Submission |
044308-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6161 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
72332181-72342594 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 72336838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 557
(V557L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045633]
|
AlphaFold |
Q7TPV4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045633
AA Change: V557L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044827 Gene: ENSMUSG00000040463 AA Change: V557L
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
|
Meta Mutation Damage Score |
0.6296 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
100% (54/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,139,934 (GRCm39) |
K1533M |
probably damaging |
Het |
Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
Atr |
A |
G |
9: 95,747,372 (GRCm39) |
H218R |
probably benign |
Het |
Atxn7l1 |
T |
A |
12: 33,408,662 (GRCm39) |
S275T |
possibly damaging |
Het |
Cacna1c |
T |
C |
6: 119,034,263 (GRCm39) |
K88R |
probably damaging |
Het |
Ccl7 |
T |
C |
11: 81,937,412 (GRCm39) |
Y49H |
probably damaging |
Het |
Cers5 |
A |
G |
15: 99,636,544 (GRCm39) |
|
probably null |
Het |
Chuk |
T |
C |
19: 44,071,076 (GRCm39) |
E543G |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,697,043 (GRCm39) |
V1318A |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,512 (GRCm39) |
H475R |
probably benign |
Het |
Fat3 |
A |
G |
9: 16,288,818 (GRCm39) |
L235P |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,211,721 (GRCm39) |
C892* |
probably null |
Het |
Fbxw8 |
T |
C |
5: 118,230,740 (GRCm39) |
T354A |
possibly damaging |
Het |
Fsip2 |
A |
C |
2: 82,817,601 (GRCm39) |
T4445P |
possibly damaging |
Het |
Gpld1 |
A |
T |
13: 25,155,397 (GRCm39) |
Q344L |
probably benign |
Het |
Hao1 |
A |
T |
2: 134,347,545 (GRCm39) |
D253E |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,246,266 (GRCm39) |
D745G |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,793,397 (GRCm39) |
T658A |
probably benign |
Het |
Klhl35 |
A |
G |
7: 99,122,544 (GRCm39) |
|
probably benign |
Het |
Lnx2 |
C |
T |
5: 146,978,836 (GRCm39) |
|
probably null |
Het |
Map3k5 |
T |
C |
10: 19,876,321 (GRCm39) |
V160A |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,469 (GRCm39) |
I517F |
possibly damaging |
Het |
Mc4r |
A |
T |
18: 66,992,251 (GRCm39) |
Y287* |
probably null |
Het |
Mthfr |
A |
G |
4: 148,126,211 (GRCm39) |
D94G |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,559,114 (GRCm39) |
I2393T |
unknown |
Het |
Mycbp2 |
A |
T |
14: 103,536,183 (GRCm39) |
W256R |
probably damaging |
Het |
Nacad |
G |
A |
11: 6,550,902 (GRCm39) |
S763L |
probably benign |
Het |
Nebl |
A |
G |
2: 17,735,641 (GRCm39) |
V11A |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,358,743 (GRCm39) |
C1363S |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,909,105 (GRCm39) |
N772D |
probably benign |
Het |
Nqo2 |
G |
A |
13: 34,163,634 (GRCm39) |
V98M |
probably damaging |
Het |
Pak4 |
A |
G |
7: 28,264,692 (GRCm39) |
I70T |
possibly damaging |
Het |
Pbx2 |
A |
G |
17: 34,812,574 (GRCm39) |
K2E |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,255,202 (GRCm39) |
T352A |
probably benign |
Het |
Polr1g |
G |
A |
7: 19,091,558 (GRCm39) |
T183I |
possibly damaging |
Het |
Pop1 |
T |
C |
15: 34,526,456 (GRCm39) |
Y684H |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,205,721 (GRCm39) |
V212A |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,768,536 (GRCm39) |
E458G |
probably damaging |
Het |
Sin3a |
T |
C |
9: 57,002,708 (GRCm39) |
V200A |
possibly damaging |
Het |
Sla |
T |
C |
15: 66,654,447 (GRCm39) |
T280A |
probably null |
Het |
Slc22a26 |
A |
T |
19: 7,763,812 (GRCm39) |
I406K |
possibly damaging |
Het |
Slc24a1 |
T |
C |
9: 64,844,545 (GRCm39) |
N606S |
unknown |
Het |
Slc39a10 |
G |
A |
1: 46,866,567 (GRCm39) |
T443M |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,762,553 (GRCm39) |
|
probably benign |
Het |
Sra1 |
G |
A |
18: 36,803,336 (GRCm39) |
A9V |
probably damaging |
Het |
Stard4 |
A |
G |
18: 33,342,109 (GRCm39) |
V47A |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,113,836 (GRCm39) |
D182V |
possibly damaging |
Het |
Syt1 |
A |
G |
10: 108,467,668 (GRCm39) |
F210L |
probably damaging |
Het |
Ube2q1 |
T |
A |
3: 89,688,667 (GRCm39) |
|
probably null |
Het |
Vmn1r159 |
C |
T |
7: 22,542,612 (GRCm39) |
C140Y |
possibly damaging |
Het |
Wnt8a |
T |
C |
18: 34,678,599 (GRCm39) |
F138L |
possibly damaging |
Het |
Zfp623 |
T |
A |
15: 75,820,470 (GRCm39) |
D475E |
probably benign |
Het |
Zfp646 |
C |
T |
7: 127,477,897 (GRCm39) |
R25W |
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 |
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 |
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 |
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'- ACTGTGAACAAGGTCAGCAG -3'
(R):5'- GGCCTCTAATTCCTTCAGAGTACTC -3'
Sequencing Primer
(F):5'- ACAAGGTCAGCAGGCCTG -3'
(R):5'- TCAGAGTACTCATCATCCTGGGG -3'
|
Posted On |
2017-10-10 |