Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Lyl1'

408728

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lyl1

Ensembl Gene

ENSMUSG00000034041

Gene Name

lymphoblastomic leukemia 1

Synonyms

Lyl-1, bHLHa18

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

85428078-85431569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85429300 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P27792

Predicted Effect

probably benign
Transcript: ENSMUST00000001974

SMART Domains

Protein: ENSMUSP00000001974
Gene: ENSMUSG00000001909

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	190	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137953

Predicted Effect

probably benign
Transcript: ENSMUST00000175884

Meta Mutation Damage Score

0.1208

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	probably damaging	Het

Other mutations in Lyl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Lyl1	APN	8	85,429,315 (GRCm39)	missense	possibly damaging	0.46
IGL02948:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL02976:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03038:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03061:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03106:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03115:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03146:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03152:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03166:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03175:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03221:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03226:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03296:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03346:Lyl1	APN	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03014:Lyl1	UTSW	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03050:Lyl1	UTSW	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
IGL03134:Lyl1	UTSW	8	85,429,300 (GRCm39)	missense	possibly damaging	0.52
R3944:Lyl1	UTSW	8	85,430,631 (GRCm39)	missense	probably damaging	1.00
R4752:Lyl1	UTSW	8	85,430,910 (GRCm39)	missense	probably benign	0.17
R7508:Lyl1	UTSW	8	85,430,929 (GRCm39)	missense	probably benign	0.06
R8139:Lyl1	UTSW	8	85,429,476 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02