Incidental Mutation 'IGL03106:Lyl1'
ID418992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lyl1
Ensembl Gene ENSMUSG00000034041
Gene Namelymphoblastomic leukemia 1
SynonymsLyl-1, bHLHa18
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03106
Quality Score
Status
Chromosome8
Chromosomal Location84701457-84704715 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84702671 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 3 (P3L)
Ref Sequence ENSEMBL: ENSMUSP00000046010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001974] [ENSMUST00000037165] [ENSMUST00000109764] [ENSMUST00000109767] [ENSMUST00000109768] [ENSMUST00000125370]
Predicted Effect probably benign
Transcript: ENSMUST00000001974
SMART Domains Protein: ENSMUSP00000001974
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 55 499 3.5e-151 PFAM
Pfam:Met_10 141 256 1.3e-8 PFAM
ZnF_C3H1 599 625 3.55e-6 SMART
low complexity region 648 661 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000037165
AA Change: P3L

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046010
Gene: ENSMUSG00000034041
AA Change: P3L

DomainStartEndE-ValueType
low complexity region 23 39 N/A INTRINSIC
HLH 155 207 3.97e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109764
SMART Domains Protein: ENSMUSP00000105386
Gene: ENSMUSG00000001911

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 1 38 1e-28 PFAM
DWA 59 167 1.86e-18 SMART
low complexity region 180 191 N/A INTRINSIC
Pfam:CTF_NFI 205 494 9.8e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109767
SMART Domains Protein: ENSMUSP00000105389
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 55 499 4.9e-149 PFAM
Pfam:Met_10 142 256 3.4e-8 PFAM
ZnF_C3H1 599 625 3.55e-6 SMART
low complexity region 648 661 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109768
SMART Domains Protein: ENSMUSP00000105390
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 48 492 3.1e-149 PFAM
Pfam:Met_10 135 249 4.4e-8 PFAM
ZnF_C3H1 592 618 3.55e-6 SMART
low complexity region 641 654 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125370
SMART Domains Protein: ENSMUSP00000135510
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 55 470 1.7e-140 PFAM
Pfam:Met_10 142 256 2.8e-8 PFAM
ZnF_C3H1 570 596 3.55e-6 SMART
low complexity region 619 632 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136423
SMART Domains Protein: ENSMUSP00000134723
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
low complexity region 190 203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175767
Predicted Effect probably benign
Transcript: ENSMUST00000175884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177260
Meta Mutation Damage Score 0.104 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice with mutation of this gene are vaible and fertile. Defects in production and differentiation of progenitor cells are observed, along with impaired ability of fetal liver or bone marrow cells in reconstituting B and T lineages after transplant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 24,715,119 probably benign Het
Adgrv1 T C 13: 81,472,899 N3911S probably benign Het
Alox12b C T 11: 69,168,876 Q585* probably null Het
Amtn A G 5: 88,378,085 Q36R probably benign Het
Arg2 G A 12: 79,149,891 G129S probably damaging Het
Arhgef28 A C 13: 97,957,793 Y948D probably damaging Het
Atp10b T C 11: 43,247,477 V1195A probably benign Het
Bet1l G T 7: 140,854,610 T42K probably benign Het
Cabin1 G A 10: 75,733,628 T875I probably benign Het
Ccdc17 A G 4: 116,596,836 probably null Het
Crebrf A G 17: 26,771,319 E612G probably damaging Het
Cyp2c67 A T 19: 39,643,675 M83K probably benign Het
Dgkz A G 2: 91,940,859 S414P probably damaging Het
Dock10 G T 1: 80,568,834 H411N probably damaging Het
Dpyd A T 3: 119,195,134 T749S probably benign Het
Dsc1 C T 18: 20,086,644 probably null Het
Echdc1 A T 10: 29,322,280 M74L probably damaging Het
Edn1 C A 13: 42,305,023 T104K possibly damaging Het
Fat2 T A 11: 55,311,901 T116S probably benign Het
Fcrl5 A T 3: 87,435,883 probably null Het
Fpgt C T 3: 155,087,122 G423R probably damaging Het
Gprc5b A T 7: 118,984,193 V151E probably damaging Het
Grm5 A G 7: 88,036,070 Y465C probably damaging Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Ighmbp2 T C 19: 3,273,022 K308R possibly damaging Het
Lrch1 A T 14: 74,835,762 S146T possibly damaging Het
Mterf3 T C 13: 66,930,157 K16R probably damaging Het
Ncapg T A 5: 45,695,668 H825Q probably damaging Het
Olfr1095 A C 2: 86,851,614 L28R possibly damaging Het
Olfr1138 A T 2: 87,738,118 S69T probably benign Het
Olfr1392 T A 11: 49,294,161 I280N probably damaging Het
Olfr1443 G A 19: 12,680,923 V272M possibly damaging Het
Olfr31 G A 14: 14,328,851 V247I probably damaging Het
Olfr984 A G 9: 40,100,734 V252A probably damaging Het
Pald1 A T 10: 61,347,105 M355K probably benign Het
Phc1 A G 6: 122,323,469 probably benign Het
Phkb T A 8: 86,018,466 probably benign Het
Pkn3 G T 2: 30,085,245 R506L probably damaging Het
Plod2 T C 9: 92,573,567 Y100H probably damaging Het
Prl7b1 G T 13: 27,606,935 Q56K probably benign Het
Rhot1 T A 11: 80,242,581 C229* probably null Het
Sema3a G A 5: 13,599,488 R735Q probably damaging Het
Slc18b1 A G 10: 23,826,659 *460W probably null Het
Slco6c1 T A 1: 97,066,023 probably benign Het
Slu7 T A 11: 43,442,630 V359D possibly damaging Het
Suco T C 1: 161,834,480 Y794C possibly damaging Het
Sult3a2 T C 10: 33,779,773 N70S probably benign Het
Taar2 A T 10: 23,941,297 D245V probably damaging Het
Taf1d A G 9: 15,309,941 H181R possibly damaging Het
Tmem33 T C 5: 67,263,796 S38P probably damaging Het
Traf3ip1 T C 1: 91,522,887 S519P probably benign Het
Ttc12 T C 9: 49,458,062 K253E possibly damaging Het
Other mutations in Lyl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Lyl1 APN 8 84702686 missense possibly damaging 0.46
IGL02948:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL02976:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03037:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03038:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03061:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03115:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03146:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03152:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03166:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03175:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03221:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03226:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03296:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03346:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03014:Lyl1 UTSW 8 84702671 missense possibly damaging 0.52
IGL03050:Lyl1 UTSW 8 84702671 missense possibly damaging 0.52
IGL03134:Lyl1 UTSW 8 84702671 missense possibly damaging 0.52
R3944:Lyl1 UTSW 8 84704002 missense probably damaging 1.00
R4752:Lyl1 UTSW 8 84704281 missense probably benign 0.17
Posted On2016-08-02