Incidental Mutation 'IGL02729:Mybl1'
| ID |
305376 |
| 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 # |
IGL02729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
9737640-9770434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9742795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 604
(D604E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088658]
[ENSMUST00000115468]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088658
AA Change: D604E
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: D604E
| 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
AA Change: D604E
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: D604E
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,499,455 (GRCm39) |
E1358G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,721 (GRCm39) |
L427F |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,283 (GRCm39) |
T326A |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,595 (GRCm39) |
H235L |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,829,250 (GRCm39) |
D512G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,787,946 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,637 (GRCm39) |
D612G |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,694 (GRCm39) |
Y209S |
probably damaging |
Het |
| Irf4 |
T |
C |
13: 30,937,574 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,009,029 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
C |
T |
17: 68,791,738 (GRCm39) |
T272I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,848,924 (GRCm39) |
I2037T |
possibly damaging |
Het |
| Lyst |
C |
A |
13: 13,921,194 (GRCm39) |
P3380Q |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,467,609 (GRCm39) |
S745C |
probably damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,439 (GRCm39) |
N43K |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,892 (GRCm39) |
F31S |
probably damaging |
Het |
| Or6c212 |
T |
G |
10: 129,559,390 (GRCm39) |
I8L |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,263,823 (GRCm39) |
H276Q |
probably benign |
Het |
| Pdx1 |
C |
A |
5: 147,211,424 (GRCm39) |
P215Q |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,034,082 (GRCm39) |
M1V |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,098,770 (GRCm39) |
M621K |
probably damaging |
Het |
| Ptprh |
T |
G |
7: 4,583,873 (GRCm39) |
N240H |
probably damaging |
Het |
| Rsph1 |
T |
A |
17: 31,492,293 (GRCm39) |
E91V |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,129,994 (GRCm39) |
C1274R |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,058,581 (GRCm39) |
P1179S |
possibly damaging |
Het |
| Skint7 |
C |
A |
4: 111,839,367 (GRCm39) |
F220L |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,591,773 (GRCm39) |
Y1283F |
probably damaging |
Het |
| Taf1b |
A |
G |
12: 24,597,624 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,596,554 (GRCm39) |
|
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,994,555 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,397,285 (GRCm39) |
V3I |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,193,143 (GRCm39) |
H766L |
probably damaging |
Het |
| Zfyve21 |
A |
G |
12: 111,791,485 (GRCm39) |
I157V |
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 |
|
IGL01903:Mybl1
|
APN |
1 |
9,741,801 (GRCm39) |
splice site |
probably null |
|
|
IGL02527:Mybl1
|
APN |
1 |
9,760,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation