Incidental Mutation 'R5548:Mybbp1a'
| ID |
434999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybbp1a
|
| Ensembl Gene |
ENSMUSG00000040463 |
| Gene Name |
MYB binding protein (P160) 1a |
| Synonyms |
p160MBP, p67MBP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5548 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72441355-72451768 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72446172 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 578
(L578P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045633]
|
| AlphaFold |
Q7TPV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045633
AA Change: L578P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: L578P
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,973,867 |
D191G |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,541,981 |
G96R |
probably damaging |
Het |
| C77080 |
GGTG |
GGTGTG |
4: 129,223,980 |
|
probably null |
Het |
| Cdh12 |
C |
T |
15: 21,492,654 |
T253I |
probably damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,757,091 |
T56I |
possibly damaging |
Het |
| Cpsf1 |
A |
C |
15: 76,597,327 |
D1141E |
possibly damaging |
Het |
| D3Ertd254e |
C |
G |
3: 36,165,491 |
H554Q |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 149,019,349 |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,151,689 |
D1194E |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,189,328 |
H1676N |
probably benign |
Het |
| Fitm1 |
A |
G |
14: 55,575,697 |
T6A |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 58,014,910 |
V495E |
probably damaging |
Het |
| Gm8994 |
T |
C |
6: 136,329,570 |
V343A |
probably damaging |
Het |
| Gtf2h2 |
C |
A |
13: 100,481,036 |
R206L |
possibly damaging |
Het |
| Heatr5a |
A |
T |
12: 51,958,951 |
Y80* |
probably null |
Het |
| Il17ra |
A |
G |
6: 120,478,473 |
R348G |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,443,907 |
Y340* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,389,030 |
T150S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,968,120 |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,863,942 |
I3542F |
probably benign |
Het |
| N4bp2l1 |
G |
A |
5: 150,572,955 |
R65* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,326,493 |
Y770N |
probably damaging |
Het |
| Olfr284 |
T |
A |
15: 98,340,372 |
T206S |
probably benign |
Het |
| Olfr918 |
T |
C |
9: 38,673,304 |
I60V |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 31,105,424 |
C1257S |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 79,767,502 |
T1028A |
probably damaging |
Het |
| Pramef25 |
C |
T |
4: 143,949,980 |
E185K |
probably benign |
Het |
| Qars |
C |
T |
9: 108,512,918 |
P348S |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,221,926 |
Q105L |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,334,317 |
Y428N |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,469,804 |
Y271F |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,304,429 |
Q479L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,590,474 |
G143S |
probably damaging |
Het |
| Susd1 |
G |
A |
4: 59,369,577 |
T364M |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,551,523 |
Y496* |
probably null |
Het |
| Tmem63b |
A |
G |
17: 45,664,958 |
I523T |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,760,843 |
S1731P |
possibly damaging |
Het |
| Ttll3 |
T |
A |
6: 113,393,117 |
W139R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,460,090 |
T3823M |
probably damaging |
Het |
| Vangl1 |
T |
A |
3: 102,184,446 |
D108V |
possibly damaging |
Het |
| Vmn1r120 |
T |
C |
7: 21,053,557 |
I76M |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 54,703,851 |
Y17H |
probably damaging |
Het |
| Xkr4 |
C |
T |
1: 3,216,930 |
A346T |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,196,449 |
S562R |
possibly damaging |
Het |
|
| Other mutations in Mybbp1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Mybbp1a
|
APN |
11 |
72,443,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03240:Mybbp1a
|
APN |
11 |
72,445,666 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03271:Mybbp1a
|
APN |
11 |
72,443,918 (GRCm38) |
splice site |
probably benign |
|
|
IGL03344:Mybbp1a
|
APN |
11 |
72,445,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
fratelli
|
UTSW |
11 |
72,445,712 (GRCm38) |
missense |
probably benign |
0.02 |
|
primi
|
UTSW |
11 |
72,442,901 (GRCm38) |
splice site |
probably null |
|
|
sorelli
|
UTSW |
11 |
72,447,759 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0276:Mybbp1a
|
UTSW |
11 |
72,450,107 (GRCm38) |
splice site |
probably null |
|
|
R0437:Mybbp1a
|
UTSW |
11 |
72,448,848 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0551:Mybbp1a
|
UTSW |
11 |
72,448,376 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1394:Mybbp1a
|
UTSW |
11 |
72,443,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1667:Mybbp1a
|
UTSW |
11 |
72,445,217 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1888:Mybbp1a
|
UTSW |
11 |
72,446,037 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1888:Mybbp1a
|
UTSW |
11 |
72,446,037 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1891:Mybbp1a
|
UTSW |
11 |
72,446,037 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1894:Mybbp1a
|
UTSW |
11 |
72,446,037 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2074:Mybbp1a
|
UTSW |
11 |
72,441,445 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2257:Mybbp1a
|
UTSW |
11 |
72,446,195 (GRCm38) |
missense |
probably benign |
0.10 |
|
R3739:Mybbp1a
|
UTSW |
11 |
72,448,737 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3983:Mybbp1a
|
UTSW |
11 |
72,447,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4191:Mybbp1a
|
UTSW |
11 |
72,451,287 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4660:Mybbp1a
|
UTSW |
11 |
72,445,712 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4667:Mybbp1a
|
UTSW |
11 |
72,447,971 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4769:Mybbp1a
|
UTSW |
11 |
72,445,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4982:Mybbp1a
|
UTSW |
11 |
72,445,214 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5451:Mybbp1a
|
UTSW |
11 |
72,448,113 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5514:Mybbp1a
|
UTSW |
11 |
72,450,636 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5673:Mybbp1a
|
UTSW |
11 |
72,444,925 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5947:Mybbp1a
|
UTSW |
11 |
72,442,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6161:Mybbp1a
|
UTSW |
11 |
72,446,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6785:Mybbp1a
|
UTSW |
11 |
72,447,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7154:Mybbp1a
|
UTSW |
11 |
72,447,642 (GRCm38) |
splice site |
probably null |
|
|
R7227:Mybbp1a
|
UTSW |
11 |
72,447,759 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7238:Mybbp1a
|
UTSW |
11 |
72,443,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7441:Mybbp1a
|
UTSW |
11 |
72,451,275 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7833:Mybbp1a
|
UTSW |
11 |
72,442,901 (GRCm38) |
splice site |
probably null |
|
|
R8213:Mybbp1a
|
UTSW |
11 |
72,444,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8324:Mybbp1a
|
UTSW |
11 |
72,445,288 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8474:Mybbp1a
|
UTSW |
11 |
72,447,737 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8972:Mybbp1a
|
UTSW |
11 |
72,446,250 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9018:Mybbp1a
|
UTSW |
11 |
72,443,594 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9380:Mybbp1a
|
UTSW |
11 |
72,442,842 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9505:Mybbp1a
|
UTSW |
11 |
72,449,071 (GRCm38) |
missense |
probably benign |
0.26 |
|
X0050:Mybbp1a
|
UTSW |
11 |
72,441,677 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCAGTTGGCAGACATG -3'
(R):5'- GCAGGACTGAATTGGCTTAGG -3'
Sequencing Primer
(F):5'- TGCTGTTGAACCATAACCGCAATG -3'
(R):5'- CAGGACTGAATTGGCTTAGGAAATTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation