Incidental Mutation 'R3801:Mybl1'
ID 272954
Institutional Source Beutler Lab
Gene Symbol Mybl1
Ensembl Gene ENSMUSG00000025912
Gene Name myeloblastosis oncogene-like 1
Synonyms A-myb, G1-419-6, repro9
MMRRC Submission 040760-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.627) question?
Stock # R3801 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 9667415-9700209 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9673214 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 538 (F538I)
Ref Sequence ENSEMBL: ENSMUSP00000111128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088658] [ENSMUST00000115468]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000088658
AA Change: F538I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: F538I

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000115468
AA Change: F538I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: F538I

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,248,293 E54K probably benign Het
Als2 A C 1: 59,167,199 M1634R probably damaging Het
Ankfy1 T C 11: 72,749,420 S531P probably benign Het
Atp6v1e1 A G 6: 120,801,059 Y172H probably benign Het
Brd1 C T 15: 88,717,040 V464M probably damaging Het
Btaf1 A T 19: 36,986,548 T840S probably benign Het
Btaf1 A T 19: 36,988,973 H1047L probably benign Het
Cacnb2 A G 2: 14,824,263 D3G possibly damaging Het
Capn13 G A 17: 73,339,401 P339L probably benign Het
Cgrrf1 G T 14: 46,832,363 G30C probably damaging Het
Crnkl1 T C 2: 145,919,795 D614G probably benign Het
Cyp2c23 C T 19: 44,007,039 V430I probably benign Het
Dazl G A 17: 50,281,281 R289W probably benign Het
Dsg1b C T 18: 20,390,203 P96S probably damaging Het
Dusp14 A G 11: 84,048,709 S169P possibly damaging Het
Egfem1 A G 3: 29,151,926 D91G probably benign Het
Eif1 A G 11: 100,320,824 K95E probably damaging Het
Fap C T 2: 62,546,650 V191I probably benign Het
Flnc T C 6: 29,447,404 Y1069H probably damaging Het
Fndc7 T C 3: 108,869,148 T526A possibly damaging Het
Fras1 A T 5: 96,733,932 T2508S probably benign Het
Gast T C 11: 100,336,810 S73P probably damaging Het
Grap2 A G 15: 80,623,746 T4A possibly damaging Het
Grm8 T G 6: 28,125,636 N164H possibly damaging Het
Hyal5 A T 6: 24,876,524 H132L probably benign Het
Iqcm C A 8: 75,669,393 T188K possibly damaging Het
Kank4 A G 4: 98,780,133 S26P probably damaging Het
Lipo1 C T 19: 33,784,857 C80Y probably damaging Het
Lrrk2 A G 15: 91,737,111 R963G probably benign Het
Lrtm2 G A 6: 119,317,483 T229I probably damaging Het
Mb21d2 A T 16: 28,828,003 D406E possibly damaging Het
Meikin T A 11: 54,399,871 probably null Het
Nectin2 T C 7: 19,717,636 D491G probably benign Het
Nf1 A G 11: 79,559,521 D511G probably null Het
Nid2 T C 14: 19,809,997 C1328R probably damaging Het
Nlrp1a T A 11: 71,122,703 M574L probably benign Het
Nrap C T 19: 56,321,779 D1595N probably damaging Het
Nrg3 G A 14: 38,376,434 P496S probably damaging Het
Olfr1287 A T 2: 111,449,565 I142F probably benign Het
Pak3 G A X: 143,709,731 V87I probably damaging Het
Phf8 T C X: 151,572,576 S512P possibly damaging Het
Phkb G T 8: 85,922,229 E225* probably null Het
Plaa T C 4: 94,569,888 D615G probably damaging Het
Prdm12 A G 2: 31,651,947 K223E probably damaging Het
Prkd1 C A 12: 50,383,422 R634L possibly damaging Het
Rassf3 T A 10: 121,414,366 I181F possibly damaging Het
Samd8 G A 14: 21,775,065 V30M probably damaging Het
Sema4f A T 6: 82,918,627 H308Q possibly damaging Het
Skint4 G T 4: 112,118,181 V113L probably damaging Het
Slc16a10 G C 10: 40,056,624 H314D possibly damaging Het
Slpi A G 2: 164,356,238 L12P probably damaging Het
Smco1 A G 16: 32,273,898 Y129C probably benign Het
Spag17 A G 3: 100,053,853 K985R possibly damaging Het
Stc1 T C 14: 69,038,475 I239T probably benign Het
Suclg2 A T 6: 95,497,668 I372N probably damaging Het
Tmed4 C A 11: 6,274,233 V80F probably damaging Het
Tnpo2 T A 8: 85,055,171 probably null Het
Top1 A G 2: 160,702,768 H268R probably damaging Het
Triobp A T 15: 78,973,700 Q1167L probably benign Het
Txndc16 G A 14: 45,151,352 P536L possibly damaging Het
Usp13 C T 3: 32,881,508 A360V possibly damaging Het
Vhl G A 6: 113,629,462 V147I probably benign Het
Vldlr A T 19: 27,217,621 T3S probably damaging Het
Vps54 T A 11: 21,268,832 D130E probably benign Het
Zfp808 T A 13: 62,172,083 H375Q probably damaging Het
Zfp87 A T 13: 67,521,215 N37K probably damaging Het
Other mutations in Mybl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Mybl1 APN 1 9671679 missense probably damaging 1.00
IGL01431:Mybl1 APN 1 9672647 missense probably damaging 0.97
IGL01733:Mybl1 APN 1 9685710 missense possibly damaging 0.94
IGL01903:Mybl1 APN 1 9671576 splice site probably null
IGL02527:Mybl1 APN 1 9690148 missense probably damaging 0.99
IGL02729:Mybl1 APN 1 9672570 missense probably benign 0.22
IGL02810:Mybl1 APN 1 9673115 missense probably damaging 1.00
IGL02810:Mybl1 APN 1 9678388 missense probably benign
IGL03369:Mybl1 APN 1 9672555 missense probably damaging 0.99
R0696:Mybl1 UTSW 1 9673148 missense probably damaging 1.00
R1453:Mybl1 UTSW 1 9671676 missense probably benign 0.27
R1476:Mybl1 UTSW 1 9672661 splice site probably null
R1567:Mybl1 UTSW 1 9685751 missense probably damaging 1.00
R3110:Mybl1 UTSW 1 9681870 missense probably damaging 1.00
R3112:Mybl1 UTSW 1 9681870 missense probably damaging 1.00
R3438:Mybl1 UTSW 1 9687645 missense probably damaging 1.00
R4333:Mybl1 UTSW 1 9672298 missense probably damaging 1.00
R4646:Mybl1 UTSW 1 9672286 missense probably damaging 1.00
R4705:Mybl1 UTSW 1 9690115 missense probably damaging 0.99
R5873:Mybl1 UTSW 1 9685665 missense possibly damaging 0.75
R6326:Mybl1 UTSW 1 9678507 critical splice acceptor site probably null
R6444:Mybl1 UTSW 1 9685692 missense possibly damaging 0.93
R6801:Mybl1 UTSW 1 9683128 missense probably benign 0.42
R7168:Mybl1 UTSW 1 9678288 missense probably damaging 1.00
R8322:Mybl1 UTSW 1 9676281 missense probably damaging 1.00
R9369:Mybl1 UTSW 1 9672604 missense probably damaging 1.00
Z1176:Mybl1 UTSW 1 9685769 missense probably damaging 0.99
Z1177:Mybl1 UTSW 1 9676040 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCAAGTAAAGGGTTATCTAAAGACC -3'
(R):5'- TTTCTGTAGAATACTGGAAACTGGC -3'

Sequencing Primer
(F):5'- AGGGTTATCTAAAGACCAAGGAAG -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
Posted On 2015-03-25