Incidental Mutation 'R1394:Mybbp1a'
| ID |
162755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybbp1a
|
| Ensembl Gene |
ENSMUSG00000040463 |
| Gene Name |
MYB binding protein (P160) 1a |
| Synonyms |
p67MBP, p160MBP |
| MMRRC Submission |
039456-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1394 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72332181-72342594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72334474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 243
(P243L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045633]
|
| AlphaFold |
Q7TPV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045633
AA Change: P243L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: P243L
| 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: ENSMUST00000152894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162048
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,249,362 (GRCm39) |
Y122H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,315,294 (GRCm39) |
F481S |
possibly damaging |
Het |
| Casd1 |
T |
G |
6: 4,624,117 (GRCm39) |
C303W |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,754 (GRCm39) |
R438Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,991,992 (GRCm39) |
T1957A |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,373,391 (GRCm39) |
S1224P |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
G |
A |
2: 77,759,823 (GRCm39) |
R75C |
possibly damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,328,089 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,936,099 (GRCm39) |
D3298G |
possibly damaging |
Het |
| Drc3 |
T |
C |
11: 60,284,545 (GRCm39) |
I450T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
| Fkbp15 |
T |
A |
4: 62,246,109 (GRCm39) |
M440L |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
| Ipp |
T |
A |
4: 116,395,109 (GRCm39) |
L548* |
probably null |
Het |
| Itm2a |
C |
T |
X: 106,441,807 (GRCm39) |
V200I |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,405,528 (GRCm39) |
N1182S |
probably damaging |
Het |
| Mkks |
C |
T |
2: 136,722,882 (GRCm39) |
G92S |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
| Pcdh12 |
A |
G |
18: 38,414,242 (GRCm39) |
|
probably null |
Het |
| Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,603,662 (GRCm39) |
C109* |
probably null |
Het |
| Prickle2 |
T |
A |
6: 92,353,363 (GRCm39) |
H701L |
possibly damaging |
Het |
| Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
| Psg19 |
T |
C |
7: 18,530,983 (GRCm39) |
N57S |
probably damaging |
Het |
| Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
| Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,476,827 (GRCm39) |
K766M |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,298,517 (GRCm39) |
Y179H |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,143,357 (GRCm39) |
T673A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,435 (GRCm39) |
M1508L |
probably benign |
Het |
| Vasn |
C |
T |
16: 4,467,576 (GRCm39) |
R508* |
probably null |
Het |
| Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
| Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
| Zfand1 |
G |
T |
3: 10,411,269 (GRCm39) |
T62K |
probably benign |
Het |
| Zfy1 |
C |
T |
Y: 725,957 (GRCm39) |
V603I |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACCCCAGGCCAGTTAGTCATC -3'
(R):5'- ACATTAGGCAGCTTGTGCTCCTTC -3'
Sequencing Primer
(F):5'- ACTAGTGGTGTATCCGAAGCC -3'
(R):5'- CCTTCTTGACAGAGTTGGCG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation