Incidental Mutation 'IGL01352:Mybl1'
ID 75399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mybl1
Ensembl Gene ENSMUSG00000025912
Gene Name myeloblastosis oncogene-like 1
Synonyms A-myb, G1-419-6, repro9
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.592) question?
Stock # IGL01352
Quality Score
Status
Chromosome 1
Chromosomal Location 9667415-9700209 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9671679 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 676 (E676G)
Ref Sequence ENSEMBL: ENSMUSP00000086034 (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: E676G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: E676G

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 benign
Transcript: ENSMUST00000115468
SMART Domains Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,860,174 I1169V probably benign Het
AI464131 T A 4: 41,499,469 R54* probably null Het
B3gnt5 T C 16: 19,769,213 S61P probably damaging Het
Bambi G A 18: 3,512,071 A152T probably damaging Het
Cacna1c G A 6: 118,656,557 Q930* probably null Het
Ccdc178 A G 18: 22,018,974 probably benign Het
Chit1 C T 1: 134,148,490 T295M probably damaging Het
Cntnap5c C A 17: 58,293,901 N746K probably benign Het
Cyfip2 A T 11: 46,265,996 F422I probably benign Het
Dsg3 A G 18: 20,523,696 M208V probably benign Het
Erich6 G A 3: 58,622,360 probably null Het
Gbf1 A G 19: 46,265,215 H574R probably damaging Het
Gm17654 T G 14: 43,575,874 E186D probably damaging Het
Gm8165 T C 14: 43,676,116 N97S unknown Het
Ilf3 C T 9: 21,392,322 L160F possibly damaging Het
Krt84 T A 15: 101,528,774 Q318L probably damaging Het
Lrp2 T A 2: 69,503,526 H1457L possibly damaging Het
Lrrc37a T A 11: 103,499,355 D1748V probably benign Het
Myo10 C A 15: 25,701,697 R53S probably damaging Het
Nrap A G 19: 56,379,836 S205P probably benign Het
Olfr1263 A G 2: 90,015,719 D263G probably damaging Het
Olfr67 A T 7: 103,788,078 Y66* probably null Het
Olfr904 A G 9: 38,464,734 N231S probably benign Het
Pkhd1 T A 1: 20,549,715 M894L probably benign Het
Ptpn13 G A 5: 103,486,775 probably null Het
Pycard T C 7: 127,993,502 D9G probably damaging Het
Rbfox3 G A 11: 118,505,613 probably benign Het
Rnf122 C T 8: 31,124,880 R71* probably null Het
Scel T A 14: 103,533,338 D69E possibly damaging Het
Spag6 T G 2: 18,710,473 M21R possibly damaging Het
Stat5a A G 11: 100,881,072 D650G probably damaging Het
Tarsl2 T C 7: 65,658,910 I276T possibly damaging Het
Tnfaip2 G T 12: 111,445,619 E151D probably damaging Het
Trio G A 15: 27,901,229 T313I probably benign Het
Ubqln4 A C 3: 88,564,468 M404L probably benign Het
Vps33b T A 7: 80,285,059 probably null Het
Wdfy3 A T 5: 101,944,120 V451D probably damaging Het
Zfp341 G T 2: 154,628,896 A278S probably benign Het
Zp3r C T 1: 130,619,356 A28T possibly damaging Het
Other mutations in Mybl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3801:Mybl1 UTSW 1 9673214 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
R9459:Mybl1 UTSW 1 9676259 missense possibly damaging 0.86
Z1176:Mybl1 UTSW 1 9685769 missense probably damaging 0.99
Z1177:Mybl1 UTSW 1 9676040 missense probably benign 0.01
Posted On 2013-10-07