Incidental Mutation 'R6801:Mybl1'
| ID |
533312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybl1
|
| Ensembl Gene |
ENSMUSG00000025912 |
| Gene Name |
myeloblastosis oncogene-like 1 |
| Synonyms |
G1-419-6, A-myb, repro9 |
| MMRRC Submission |
044914-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.561)
|
| Stock # |
R6801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9737640-9770434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9753353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 243
(V243A)
|
| 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: V243A
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: V243A
| 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: V243A
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: V243A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,759,892 (GRCm39) |
D545G |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| C2cd6 |
TC |
T |
1: 59,133,742 (GRCm39) |
|
probably null |
Het |
| Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
| Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,176,086 (GRCm39) |
V201E |
probably damaging |
Het |
| Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
| Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
| Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
| Gm7298 |
A |
G |
6: 121,752,768 (GRCm39) |
T837A |
probably benign |
Het |
| Gmppa |
C |
G |
1: 75,418,391 (GRCm39) |
S258C |
possibly damaging |
Het |
| Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,566 (GRCm39) |
E138V |
probably damaging |
Het |
| Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
| Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
| Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
| Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
| Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
| Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
| Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
| Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
| Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,010 (GRCm39) |
S888L |
probably benign |
Het |
| Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
| Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGCAATGTTCTTTATCCTAGTT -3'
(R):5'- TGCTAGACAATATTCAGTCTCCAG -3'
Sequencing Primer
(F):5'- CTGGGATCACAGGTCTGTACATATC -3'
(R):5'- GGAGCTCAACATCTAGCCTTGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation