Incidental Mutation 'R5451:Mybbp1a'
| ID |
434593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybbp1a
|
| Ensembl Gene |
ENSMUSG00000040463 |
| Gene Name |
MYB binding protein (P160) 1a |
| Synonyms |
p67MBP, p160MBP |
| MMRRC Submission |
043016-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72332181-72342594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72338939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 822
(D822G)
|
| 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 damaging
Transcript: ENSMUST00000045633
AA Change: D822G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: D822G
| 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: ENSMUST00000126452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156833
|
| 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 |
0.3437 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (52/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,334,076 (GRCm39) |
F1142S |
possibly damaging |
Het |
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Calhm2 |
T |
A |
19: 47,121,314 (GRCm39) |
Y285F |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,270 (GRCm39) |
T355A |
probably damaging |
Het |
| Ccnq |
T |
A |
11: 78,642,115 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,733,747 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 115,612,873 (GRCm39) |
S3P |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,143,476 (GRCm39) |
G388D |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,589,256 (GRCm39) |
M447T |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,281,179 (GRCm39) |
G2747S |
possibly damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,864,901 (GRCm39) |
S51G |
probably benign |
Het |
| Gabbr2 |
T |
A |
4: 46,684,294 (GRCm39) |
Y660F |
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,751,868 (GRCm39) |
E140G |
probably benign |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,422,445 (GRCm39) |
L138Q |
probably damaging |
Het |
| Igflr1 |
A |
G |
7: 30,265,747 (GRCm39) |
N57S |
possibly damaging |
Het |
| Ighv13-2 |
A |
G |
12: 114,321,473 (GRCm39) |
F89L |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,928,846 (GRCm39) |
V609A |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,445,850 (GRCm39) |
V233A |
probably benign |
Het |
| Lingo1 |
T |
G |
9: 56,527,711 (GRCm39) |
I293L |
probably damaging |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lsm2 |
T |
C |
17: 35,201,185 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
T |
A |
15: 79,011,104 (GRCm39) |
|
probably null |
Het |
| Mpp7 |
T |
C |
18: 7,442,855 (GRCm39) |
D156G |
probably null |
Het |
| Naip2 |
A |
G |
13: 100,325,368 (GRCm39) |
V180A |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,409,103 (GRCm39) |
Y159* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,221 (GRCm39) |
T1290A |
probably benign |
Het |
| Or12e1 |
T |
A |
2: 87,022,796 (GRCm39) |
V255E |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,341 (GRCm39) |
I46V |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,946,787 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,440,720 (GRCm39) |
Y1290F |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,827 (GRCm39) |
N132D |
probably benign |
Het |
| Rfx3 |
T |
G |
19: 27,827,359 (GRCm39) |
T76P |
probably damaging |
Het |
| Rps13-ps2 |
G |
T |
7: 88,180,036 (GRCm39) |
|
noncoding transcript |
Het |
| Slc12a3 |
A |
G |
8: 95,083,655 (GRCm39) |
D894G |
possibly damaging |
Het |
| Slc25a15 |
G |
A |
8: 22,879,983 (GRCm39) |
T54I |
probably benign |
Het |
| Slco1c1 |
A |
T |
6: 141,505,604 (GRCm39) |
Q461L |
probably benign |
Het |
| Slfn5 |
T |
G |
11: 82,850,912 (GRCm39) |
I403R |
probably damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,071,571 (GRCm39) |
T318S |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,479,271 (GRCm39) |
R668M |
probably damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,503 (GRCm39) |
I160F |
probably damaging |
Het |
| Trgj4 |
G |
T |
13: 19,526,335 (GRCm39) |
|
probably benign |
Het |
| Trim9 |
A |
G |
12: 70,393,603 (GRCm39) |
S114P |
probably benign |
Het |
| Trp53i11 |
T |
C |
2: 93,030,200 (GRCm39) |
L169P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r190-ps |
A |
G |
13: 22,328,901 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- TGTCCAGCCATTTAAGGGTCG -3'
(R):5'- TGTGCTGGATCACGTTCAGC -3'
Sequencing Primer
(F):5'- CCATTTAAGGGTCGGCTGATG -3'
(R):5'- CAGTGGCTCAAGTAGTTCCAGGATC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation