Incidental Mutation 'IGL01903:Mybl1'
| ID |
179606 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mybl1
|
| Ensembl Gene |
ENSMUSG00000025912 |
| Gene Name |
myeloblastosis oncogene-like 1 |
| Synonyms |
G1-419-6, A-myb, repro9 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.561)
|
| Stock # |
IGL01903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
9737640-9770434 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 9741801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088658]
[ENSMUST00000115468]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000088658
|
| SMART Domains |
Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
34 |
83 |
1.08e-18 |
SMART |
|
SANT
|
86 |
135 |
1.26e-19 |
SMART |
|
SANT
|
138 |
186 |
1.75e-18 |
SMART |
|
Pfam:LMSTEN
|
240 |
285 |
1.2e-29 |
PFAM |
|
Pfam:Cmyb_C
|
485 |
648 |
6.9e-82 |
PFAM |
|
low complexity region
|
734 |
749 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115468
|
| SMART Domains |
Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
34 |
83 |
1.08e-18 |
SMART |
|
SANT
|
86 |
135 |
1.26e-19 |
SMART |
|
SANT
|
138 |
186 |
1.75e-18 |
SMART |
|
Pfam:LMSTEN
|
239 |
285 |
1.9e-30 |
PFAM |
|
Pfam:Cmyb_C
|
485 |
651 |
4.1e-74 |
PFAM |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160022
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice of both sexes show growth retardation after birth and an impairment of serum antibody response. Male mutant mice are sterile due to a meiotic defect. While female mutant mice are fertile, breast development is impaired after pregnancy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,949,050 (GRCm39) |
|
probably benign |
Het |
| Adad1 |
T |
A |
3: 37,139,231 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,567,633 (GRCm39) |
D70E |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,208,692 (GRCm39) |
I380L |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,834,454 (GRCm39) |
E351G |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,634,020 (GRCm39) |
Y132N |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,501,964 (GRCm39) |
V16G |
probably damaging |
Het |
| Gcdh |
A |
T |
8: 85,615,233 (GRCm39) |
L389Q |
probably damaging |
Het |
| Ggta1 |
A |
T |
2: 35,292,569 (GRCm39) |
F258Y |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3696 |
T |
A |
14: 18,434,983 (GRCm39) |
|
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,607,101 (GRCm39) |
S72C |
probably damaging |
Het |
| Hal |
G |
A |
10: 93,336,469 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
A |
T |
14: 54,779,886 (GRCm39) |
S288T |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,294,154 (GRCm39) |
K499* |
probably null |
Het |
| Hyou1 |
C |
T |
9: 44,292,438 (GRCm39) |
|
probably benign |
Het |
| Kng2 |
C |
T |
16: 22,806,540 (GRCm39) |
R553Q |
possibly damaging |
Het |
| Leng9 |
G |
A |
7: 4,151,746 (GRCm39) |
A310V |
probably damaging |
Het |
| Magi3 |
G |
T |
3: 103,958,526 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,661,577 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,154,423 (GRCm39) |
S598P |
probably benign |
Het |
| Or14j5 |
T |
C |
17: 37,920,758 (GRCm39) |
I295V |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,003 (GRCm39) |
K139E |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
| Or5aq1 |
A |
C |
2: 86,965,723 (GRCm39) |
|
probably null |
Het |
| Otud6b |
C |
T |
4: 14,818,458 (GRCm39) |
E148K |
probably benign |
Het |
| Pgghg |
A |
G |
7: 140,526,741 (GRCm39) |
Q686R |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,268,361 (GRCm39) |
C3339F |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,716,370 (GRCm39) |
D697G |
possibly damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,116 (GRCm39) |
|
probably null |
Het |
| Sfxn4 |
T |
C |
19: 60,847,118 (GRCm39) |
Y55C |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,236,864 (GRCm39) |
R274G |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,968 (GRCm39) |
T88A |
probably benign |
Het |
| Spz1 |
G |
T |
13: 92,711,407 (GRCm39) |
N356K |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,923,412 (GRCm39) |
F288L |
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,842,542 (GRCm39) |
E829G |
probably benign |
Het |
| Ube2z |
T |
C |
11: 95,955,826 (GRCm39) |
D92G |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r7 |
A |
G |
3: 64,626,864 (GRCm39) |
Y142H |
probably benign |
Het |
| Zfp397 |
T |
A |
18: 24,093,086 (GRCm39) |
N190K |
probably benign |
Het |
|
| Other mutations in Mybl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:Mybl1
|
APN |
1 |
9,741,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01431:Mybl1
|
APN |
1 |
9,742,872 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01733:Mybl1
|
APN |
1 |
9,755,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02527:Mybl1
|
APN |
1 |
9,760,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02729:Mybl1
|
APN |
1 |
9,742,795 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02810:Mybl1
|
APN |
1 |
9,748,613 (GRCm39) |
missense |
probably benign |
|
|
IGL02810:Mybl1
|
APN |
1 |
9,743,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Mybl1
|
APN |
1 |
9,742,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0696:Mybl1
|
UTSW |
1 |
9,743,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Mybl1
|
UTSW |
1 |
9,741,901 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1476:Mybl1
|
UTSW |
1 |
9,742,886 (GRCm39) |
splice site |
probably null |
|
|
R1567:Mybl1
|
UTSW |
1 |
9,755,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Mybl1
|
UTSW |
1 |
9,752,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Mybl1
|
UTSW |
1 |
9,752,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3438:Mybl1
|
UTSW |
1 |
9,757,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Mybl1
|
UTSW |
1 |
9,743,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4333:Mybl1
|
UTSW |
1 |
9,742,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Mybl1
|
UTSW |
1 |
9,742,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Mybl1
|
UTSW |
1 |
9,760,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5873:Mybl1
|
UTSW |
1 |
9,755,890 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6326:Mybl1
|
UTSW |
1 |
9,748,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6444:Mybl1
|
UTSW |
1 |
9,755,917 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6801:Mybl1
|
UTSW |
1 |
9,753,353 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7168:Mybl1
|
UTSW |
1 |
9,748,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Mybl1
|
UTSW |
1 |
9,746,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Mybl1
|
UTSW |
1 |
9,742,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Mybl1
|
UTSW |
1 |
9,746,484 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Mybl1
|
UTSW |
1 |
9,755,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mybl1
|
UTSW |
1 |
9,746,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-05-07 |
Incidental Mutation