Incidental Mutation 'R5947:Mybbp1a'
| ID |
472238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybbp1a
|
| Ensembl Gene |
ENSMUSG00000040463 |
| Gene Name |
MYB binding protein (P160) 1a |
| Synonyms |
p160MBP, p67MBP |
| MMRRC Submission |
044138-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72441355-72451768 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72442431 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 107
(C107Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045633]
[ENSMUST00000076443]
[ENSMUST00000100903]
[ENSMUST00000108499]
|
| AlphaFold |
Q7TPV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045633
AA Change: C107Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: C107Y
| 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: ENSMUST00000076443
|
| SMART Domains |
Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
77 |
N/A |
INTRINSIC |
|
Pfam:G_glu_transpept
|
124 |
179 |
1.4e-9 |
PFAM |
|
Pfam:G_glu_transpept
|
180 |
276 |
7.6e-11 |
PFAM |
|
Pfam:G_glu_transpept
|
327 |
402 |
1.4e-9 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100903
|
| SMART Domains |
Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
77 |
N/A |
INTRINSIC |
|
Pfam:G_glu_transpept
|
125 |
238 |
2.1e-11 |
PFAM |
|
Pfam:G_glu_transpept
|
290 |
367 |
6.7e-9 |
PFAM |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
451 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108499
|
| SMART Domains |
Protein: ENSMUSP00000104139
Gene: ENSMUSG00000040471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162048
|
| Meta Mutation Damage Score |
0.4081 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (70/70) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 123,967,998 (GRCm38) |
|
probably null |
Het |
| Abt1 |
T |
C |
13: 23,422,055 (GRCm38) |
E243G |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,743,700 (GRCm38) |
S361P |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,619,712 (GRCm38) |
S507P |
probably benign |
Het |
| Atp13a3 |
A |
G |
16: 30,362,700 (GRCm38) |
V34A |
probably benign |
Het |
| Atpaf2 |
A |
T |
11: 60,405,882 (GRCm38) |
|
probably benign |
Het |
| Bbs1 |
A |
C |
19: 4,892,994 (GRCm38) |
L456R |
probably benign |
Het |
| Bri3bp |
G |
T |
5: 125,452,153 (GRCm38) |
G84* |
probably null |
Het |
| Bri3bp |
G |
C |
5: 125,452,154 (GRCm38) |
|
probably benign |
Het |
| Car10 |
A |
C |
11: 93,490,613 (GRCm38) |
H134P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,116,679 (GRCm38) |
E119G |
probably damaging |
Het |
| Cxcl3 |
C |
T |
5: 90,786,316 (GRCm38) |
|
probably benign |
Het |
| Dppa4 |
T |
C |
16: 48,291,108 (GRCm38) |
V100A |
possibly damaging |
Het |
| Elmo1 |
G |
T |
13: 20,290,383 (GRCm38) |
E105* |
probably null |
Het |
| Esrp2 |
T |
G |
8: 106,132,933 (GRCm38) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,422,401 (GRCm38) |
K108R |
possibly damaging |
Het |
| Exph5 |
G |
A |
9: 53,375,222 (GRCm38) |
R1201H |
probably benign |
Het |
| Galnt3 |
A |
C |
2: 66,084,156 (GRCm38) |
|
probably benign |
Het |
| Gm14486 |
C |
T |
2: 30,658,801 (GRCm38) |
|
noncoding transcript |
Het |
| Gna12 |
T |
A |
5: 140,760,962 (GRCm38) |
I243F |
probably damaging |
Het |
| Itga5 |
A |
T |
15: 103,356,785 (GRCm38) |
W232R |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,773,077 (GRCm38) |
|
noncoding transcript |
Het |
| Lrp1 |
C |
T |
10: 127,589,554 (GRCm38) |
|
probably null |
Het |
| Mast4 |
T |
C |
13: 102,735,640 (GRCm38) |
M2215V |
probably benign |
Het |
| Mfap5 |
T |
C |
6: 122,525,986 (GRCm38) |
Y52H |
probably damaging |
Het |
| Mrps31 |
A |
G |
8: 22,414,975 (GRCm38) |
K127E |
possibly damaging |
Het |
| Mto1 |
C |
T |
9: 78,461,029 (GRCm38) |
T485M |
probably damaging |
Het |
| Nedd4 |
G |
A |
9: 72,730,850 (GRCm38) |
|
probably benign |
Het |
| Nek2 |
A |
G |
1: 191,829,485 (GRCm38) |
E360G |
probably benign |
Het |
| Notch1 |
T |
A |
2: 26,462,528 (GRCm38) |
|
probably benign |
Het |
| Nubp1 |
T |
C |
16: 10,420,186 (GRCm38) |
|
probably benign |
Het |
| Pcdhb1 |
G |
A |
18: 37,266,673 (GRCm38) |
R559H |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,129,263 (GRCm38) |
V1684I |
probably benign |
Het |
| Pggt1b |
G |
T |
18: 46,248,940 (GRCm38) |
N258K |
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,586,120 (GRCm38) |
V166M |
possibly damaging |
Het |
| Pprc1 |
A |
G |
19: 46,063,672 (GRCm38) |
D546G |
possibly damaging |
Het |
| Psapl1 |
T |
C |
5: 36,204,307 (GRCm38) |
V81A |
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,844,943 (GRCm38) |
|
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,506,544 (GRCm38) |
F347S |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,870,808 (GRCm38) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 29,071,924 (GRCm38) |
L2557Q |
probably null |
Het |
| Slc1a7 |
T |
C |
4: 108,010,300 (GRCm38) |
|
probably benign |
Het |
| Slc35e2 |
T |
A |
4: 155,611,714 (GRCm38) |
M186K |
possibly damaging |
Het |
| Slc49a4 |
T |
C |
16: 35,730,306 (GRCm38) |
T308A |
probably benign |
Het |
| Snx6 |
G |
T |
12: 54,770,764 (GRCm38) |
S116* |
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,994,367 (GRCm38) |
|
probably null |
Het |
| Sucla2 |
T |
A |
14: 73,592,669 (GRCm38) |
M382K |
probably damaging |
Het |
| Susd5 |
T |
C |
9: 114,057,591 (GRCm38) |
L16P |
possibly damaging |
Het |
| Tmem260 |
G |
A |
14: 48,486,801 (GRCm38) |
A369T |
possibly damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,452,522 (GRCm38) |
Y393H |
probably damaging |
Het |
| Tnrc6c |
A |
T |
11: 117,722,519 (GRCm38) |
Q501L |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,965,543 (GRCm38) |
Y142C |
probably damaging |
Het |
| Trim65 |
T |
C |
11: 116,128,282 (GRCm38) |
R144G |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 64,223,799 (GRCm38) |
T601A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,734,344 (GRCm38) |
V28483E |
probably damaging |
Het |
| Ube2l3 |
G |
T |
16: 17,201,472 (GRCm38) |
|
probably benign |
Het |
| Ube2l3 |
T |
C |
16: 17,201,476 (GRCm38) |
|
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,195,306 (GRCm38) |
|
probably benign |
Het |
| Zfat |
A |
G |
15: 68,179,957 (GRCm38) |
S663P |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,912,085 (GRCm38) |
P125L |
probably 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 |
|
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 |
|
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'- TGGTCCCTTGAAAGCAGTAGC -3'
(R):5'- GTGCCAAAAGCTCTTACCTTC -3'
Sequencing Primer
(F):5'- CAGTAGCGCTTGTGAGGGATG -3'
(R):5'- GCTAGCACTCCAAAAAGGTTTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation