Incidental Mutation 'IGL03038:Lyl1'
ID408794
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 #IGL03038
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 0.1208 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,428,456 Y111H probably damaging Het
Arhgef6 C T X: 57,245,606 V262I probably benign Het
Arsk C A 13: 76,065,513 probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Foxl1 A C 8: 121,128,419 E153A probably damaging Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Kif13a A G 13: 46,772,838 L264P probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prkaca C A 8: 83,994,951 Q300K probably benign Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
S1pr1 T A 3: 115,712,694 I84L possibly damaging Het
Slc47a1 C T 11: 61,353,092 V384M probably benign Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 probably benign 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
IGL03061:Lyl1 APN 8 84702671 missense possibly damaging 0.52
IGL03106: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
R7508:Lyl1 UTSW 8 84704300 missense probably benign 0.06
R8139:Lyl1 UTSW 8 84702847 missense probably damaging 0.99
Posted On2016-08-02