Incidental Mutation 'R7441:Mybbp1a'
ID |
576965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybbp1a
|
Ensembl Gene |
ENSMUSG00000040463 |
Gene Name |
MYB binding protein (P160) 1a |
Synonyms |
p67MBP, p160MBP |
MMRRC Submission |
045517-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
72332181-72342594 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72342101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1279
(V1279E)
|
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 benign
Transcript: ENSMUST00000045633
AA Change: V1279E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000044827 Gene: ENSMUSG00000040463 AA Change: V1279E
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 |
probably benign
Transcript: ENSMUST00000144940
|
SMART Domains |
Protein: ENSMUSP00000120722 Gene: ENSMUSG00000040447
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
C |
2: 151,314,845 (GRCm39) |
S278A |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,251,554 (GRCm39) |
D411G |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,871,987 (GRCm39) |
I894V |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,477,392 (GRCm39) |
V725A |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,551,262 (GRCm39) |
R808G |
probably damaging |
Het |
Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,177,132 (GRCm39) |
S2007P |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,087,254 (GRCm39) |
I1212N |
possibly damaging |
Het |
Dnajc16 |
A |
T |
4: 141,491,124 (GRCm39) |
D675E |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,462,503 (GRCm39) |
F4L |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,708,549 (GRCm39) |
I707N |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,302,377 (GRCm39) |
T1555A |
probably benign |
Het |
Erc1 |
G |
A |
6: 119,801,912 (GRCm39) |
T35I |
possibly damaging |
Het |
Esr2 |
C |
A |
12: 76,188,168 (GRCm39) |
M363I |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,749,000 (GRCm39) |
N446I |
possibly damaging |
Het |
Evpl |
T |
A |
11: 116,113,782 (GRCm39) |
K1303* |
probably null |
Het |
Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
Fam186b |
A |
G |
15: 99,177,970 (GRCm39) |
L452P |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
Gtf3c3 |
G |
A |
1: 54,459,607 (GRCm39) |
T385M |
probably benign |
Het |
Iqgap2 |
C |
A |
13: 95,764,584 (GRCm39) |
M1553I |
probably benign |
Het |
Kcnk1 |
G |
T |
8: 126,722,307 (GRCm39) |
G37C |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,864,615 (GRCm39) |
M32V |
probably benign |
Het |
Krt81 |
C |
A |
15: 101,359,251 (GRCm39) |
K222N |
possibly damaging |
Het |
Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
Or11g26 |
A |
T |
14: 50,752,853 (GRCm39) |
Y64F |
probably damaging |
Het |
Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
A |
G |
4: 143,145,410 (GRCm39) |
Y293C |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,512,416 (GRCm39) |
V407A |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
Scn11a |
C |
T |
9: 119,587,692 (GRCm39) |
V1351I |
probably benign |
Het |
Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
Timd5 |
G |
A |
11: 46,419,382 (GRCm39) |
W66* |
probably null |
Het |
Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,147 (GRCm39) |
E280G |
possibly damaging |
Het |
Zfp810 |
C |
A |
9: 22,190,568 (GRCm39) |
E78* |
probably null |
Het |
Zfp937 |
GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT |
G |
2: 150,080,630 (GRCm39) |
|
probably null |
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 |
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 |
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'- TGCTGCCACTGGTAAAGAC -3'
(R):5'- TCAAGGTGTCTGCACTCTCC -3'
Sequencing Primer
(F):5'- CCCAGCACAGGCAAGAAG -3'
(R):5'- GGTGTCTGCACTCTCCTGCTG -3'
|
Posted On |
2019-10-07 |