Incidental Mutation 'R7227:Mybbp1a'
| ID |
562240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybbp1a
|
| Ensembl Gene |
ENSMUSG00000040463 |
| Gene Name |
MYB binding protein (P160) 1a |
| Synonyms |
p160MBP, p67MBP |
| MMRRC Submission |
045299-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72441355-72451768 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72447759 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 728
(K728N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000045633
AA Change: K728N
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: K728N
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (57/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 131,350,720 (GRCm38) |
L344H |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,825,593 (GRCm38) |
S589T |
probably damaging |
Het |
| Acsm2 |
A |
C |
7: 119,591,333 (GRCm38) |
I520L |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,620,871 (GRCm38) |
Y544H |
probably damaging |
Het |
| Ascc1 |
T |
A |
10: 60,007,738 (GRCm38) |
Y41N |
probably benign |
Het |
| Bend3 |
T |
A |
10: 43,511,405 (GRCm38) |
L598Q |
probably damaging |
Het |
| Cfap74 |
T |
G |
4: 155,460,948 (GRCm38) |
Y1108* |
probably null |
Het |
| Cxcl17 |
C |
A |
7: 25,402,894 (GRCm38) |
R41S |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,881,166 (GRCm38) |
M136I |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,421,396 (GRCm38) |
Y4370H |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,951,569 (GRCm38) |
Q579L |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,817,844 (GRCm38) |
M195I |
unknown |
Het |
| Esyt2 |
A |
G |
12: 116,342,125 (GRCm38) |
D325G |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,010,609 (GRCm38) |
I1396S |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,823 (GRCm38) |
I661K |
unknown |
Het |
| Gja1 |
T |
A |
10: 56,387,656 (GRCm38) |
L37Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,156,911 (GRCm38) |
S876P |
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,012,240 (GRCm38) |
R362H |
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 76,939,634 (GRCm38) |
M53K |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,141,288 (GRCm38) |
S137P |
probably benign |
Het |
| Kremen2 |
G |
T |
17: 23,744,599 (GRCm38) |
Y70* |
probably null |
Het |
| Lag3 |
C |
T |
6: 124,908,494 (GRCm38) |
G308S |
possibly damaging |
Het |
| Mab21l4 |
G |
T |
1: 93,152,014 (GRCm38) |
N451K |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,346,594 (GRCm38) |
L542Q |
probably damaging |
Het |
| Mef2d |
G |
A |
3: 88,158,207 (GRCm38) |
|
probably null |
Het |
| Mkrn3 |
C |
A |
7: 62,419,667 (GRCm38) |
R125S |
probably benign |
Het |
| Mpp3 |
T |
A |
11: 102,005,078 (GRCm38) |
Y457F |
possibly damaging |
Het |
| Mrpl12 |
T |
A |
11: 120,488,352 (GRCm38) |
I175N |
probably damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,626,659 (GRCm38) |
V112M |
probably damaging |
Het |
| Nucb2 |
A |
T |
7: 116,526,076 (GRCm38) |
D123V |
probably damaging |
Het |
| Or12j2 |
A |
G |
7: 140,335,621 (GRCm38) |
|
probably benign |
Het |
| Orc3 |
T |
C |
4: 34,572,542 (GRCm38) |
T629A |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,883,901 (GRCm38) |
N218K |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,726,902 (GRCm38) |
T1298A |
probably benign |
Het |
| Ppan |
T |
A |
9: 20,888,200 (GRCm38) |
|
probably benign |
Het |
| Rap1gds1 |
C |
T |
3: 138,957,467 (GRCm38) |
G373R |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,752,023 (GRCm38) |
I1572L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,438,923 (GRCm38) |
Y1027N |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 107,051,629 (GRCm38) |
T48S |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,331,636 (GRCm38) |
M264V |
probably benign |
Het |
| Slc44a3 |
A |
T |
3: 121,510,230 (GRCm38) |
C286S |
possibly damaging |
Het |
| Slc8a2 |
T |
C |
7: 16,144,981 (GRCm38) |
I464T |
possibly damaging |
Het |
| Smco1 |
T |
C |
16: 32,274,015 (GRCm38) |
M168T |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,458,687 (GRCm38) |
Y246* |
probably null |
Het |
| Ssbp2 |
T |
C |
13: 91,675,125 (GRCm38) |
M213T |
probably benign |
Het |
| Stk40 |
G |
T |
4: 126,123,766 (GRCm38) |
A29S |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,173,503 (GRCm38) |
F683I |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,670,666 (GRCm38) |
T880A |
possibly damaging |
Het |
| Trim38 |
T |
A |
13: 23,785,963 (GRCm38) |
N168K |
possibly damaging |
Het |
| Ube2d1 |
T |
A |
10: 71,255,872 (GRCm38) |
Y134F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,447,548 (GRCm38) |
Y246* |
probably null |
Het |
| Vmn2r18 |
T |
C |
5: 151,572,799 (GRCm38) |
T485A |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,248,946 (GRCm38) |
I1285F |
probably damaging |
Het |
| Xrcc1 |
C |
A |
7: 24,547,332 (GRCm38) |
H8Q |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,484,243 (GRCm38) |
V317A |
probably benign |
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 |
|
R5548:Mybbp1a
|
UTSW |
11 |
72,446,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- GTCTGGAACTTCTCAGGTGC -3'
(R):5'- ATCAGCCGACCCTTAAATGG -3'
Sequencing Primer
(F):5'- TGGAACTTCTCAGGTGCTCAGC -3'
(R):5'- CGACCCTTAAATGGCTGGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation