Mutagenetix > Incidental Mutation

Incidental Mutation 'R7508:Lyl1'

581896

Institutional Source

Beutler Lab

Gene Symbol

Lyl1

Ensembl Gene

ENSMUSG00000034041

Gene Name

lymphoblastomic leukemia 1

Synonyms

Lyl-1, bHLHa18

MMRRC Submission

045581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7508 (G1)

Quality Score

161.009

Status

Validated

Chromosome

Chromosomal Location

85428078-85431569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85430929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 277 (V277A)

Ref Sequence

ENSEMBL: ENSMUSP00000046010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001974] [ENSMUST00000037165] [ENSMUST00000076715] [ENSMUST00000099070] [ENSMUST00000109762] [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

probably benign
Transcript: ENSMUST00000037165
AA Change: V277A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046010
Gene: ENSMUSG00000034041
AA Change: V277A

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: ENSMUST00000076715

SMART Domains

Protein: ENSMUSP00000076005
Gene: ENSMUSG00000001911

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	4.1e-30	PFAM
DWA	67	175	1.86e-18	SMART
low complexity region	188	199	N/A	INTRINSIC
Pfam:CTF_NFI	213	322	7.4e-32	PFAM
Pfam:CTF_NFI	313	396	3.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099070

SMART Domains

Protein: ENSMUSP00000096669
Gene: ENSMUSG00000001911

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	4.7e-30	PFAM
DWA	67	175	1.86e-18	SMART
low complexity region	188	199	N/A	INTRINSIC
Pfam:CTF_NFI	213	437	2.7e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109762

SMART Domains

Protein: ENSMUSP00000105384
Gene: ENSMUSG00000001911

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	1	38	1.1e-27	PFAM
DWA	59	167	1.86e-18	SMART
low complexity region	180	191	N/A	INTRINSIC
Pfam:CTF_NFI	205	312	5.4e-32	PFAM
Pfam:CTF_NFI	305	387	3.6e-19	PFAM

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

Meta Mutation Damage Score

0.0904

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,174,209 (GRCm39)	A110T	probably benign	Het
Adra1a	A	C	14: 66,875,384 (GRCm39)	I120L	probably damaging	Het
Ahnak2	C	T	12: 112,740,839 (GRCm39)	V1078I	possibly damaging	Het
Ccser1	A	G	6: 61,547,707 (GRCm39)	H590R	probably benign	Het
Cdh12	T	G	15: 21,583,851 (GRCm39)	L564V	probably benign	Het
Celsr3	T	A	9: 108,713,821 (GRCm39)	H1900Q	probably benign	Het
Clasp1	T	A	1: 118,473,164 (GRCm39)	M918K	probably benign	Het
Cmtm6	A	G	9: 114,560,308 (GRCm39)	E2G	probably damaging	Het
Ctsg	A	G	14: 56,337,998 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,256 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,807,772 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,614,323 (GRCm39)	R333H	probably benign	Het
Egln3	T	C	12: 54,227,414 (GRCm39)	D239G	probably benign	Het
Eif1ad12	T	C	12: 87,541,612 (GRCm39)	M41T	possibly damaging	Het
Fam13a	A	T	6: 58,964,269 (GRCm39)	D54E	probably damaging	Het
Fn1	A	G	1: 71,636,675 (GRCm39)	V2159A	probably benign	Het
Gcnt2	T	A	13: 41,041,157 (GRCm39)	F105L	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Hacd4	A	G	4: 88,355,715 (GRCm39)	F57L	probably benign	Het
Helb	T	C	10: 119,941,188 (GRCm39)	D500G	probably benign	Het
Ighv1-26	G	A	12: 114,752,062 (GRCm39)	S94F	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Klra7	A	T	6: 130,207,054 (GRCm39)		probably null	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Myo9b	T	C	8: 71,807,445 (GRCm39)	L1627P	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Odf4	A	T	11: 68,813,249 (GRCm39)	C218S	possibly damaging	Het
Or2b6	T	A	13: 21,822,779 (GRCm39)	I305F	probably benign	Het
Or8u3-ps	A	G	2: 85,952,282 (GRCm39)	N5S	possibly damaging	Het
Pde5a	A	G	3: 122,611,679 (GRCm39)	D571G	probably damaging	Het
Pgc	A	G	17: 48,045,111 (GRCm39)	E343G	probably benign	Het
Pik3cd	A	G	4: 149,739,040 (GRCm39)	F667L	possibly damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Ptprb	C	T	10: 116,189,896 (GRCm39)	Q1565*	probably null	Het
Rapgef4	T	A	2: 72,036,077 (GRCm39)	N523K	probably benign	Het
Rbm25	T	C	12: 83,719,651 (GRCm39)	L557P	probably damaging	Het
Rhobtb3	C	T	13: 76,026,976 (GRCm39)	V466I	probably benign	Het
Rnpep	A	G	1: 135,206,596 (GRCm39)	V166A	probably benign	Het
Sgo2a	A	G	1: 58,056,954 (GRCm39)	K1046R	probably benign	Het
Slc12a2	T	C	18: 58,037,465 (GRCm39)	V525A	probably benign	Het
Slc1a4	A	T	11: 20,256,487 (GRCm39)	I448N	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Slc9a5	T	A	8: 106,089,885 (GRCm39)		probably null	Het
Spag16	A	T	1: 69,926,679 (GRCm39)	N258I	possibly damaging	Het
Sspo	T	A	6: 48,443,633 (GRCm39)	L2076Q	probably damaging	Het
Taok1	T	A	11: 77,436,152 (GRCm39)	H704L	probably damaging	Het
Tbc1d9b	T	C	11: 50,035,947 (GRCm39)	F148L	probably damaging	Het
Tm4sf1	A	G	3: 57,202,176 (GRCm39)	Y12H	probably benign	Het
Traj6	C	T	14: 54,450,171 (GRCm39)	T9M		Het
Ttll4	A	G	1: 74,726,418 (GRCm39)	N672S	possibly damaging	Het
Ube3a	T	A	7: 58,953,437 (GRCm39)	H790Q	possibly damaging	Het
Usp49	G	A	17: 47,983,205 (GRCm39)	R70Q	probably benign	Het
Vmn2r32	C	T	7: 7,470,373 (GRCm39)	V515M	possibly damaging	Het
Wars1	A	G	12: 108,848,801 (GRCm39)	S49P	probably benign	Het
Zbp1	T	A	2: 173,049,604 (GRCm39)	Q386L	possibly damaging	Het
Zfp369	T	C	13: 65,427,087 (GRCm39)	F10S	unknown	Het
Zfp512	C	G	5: 31,630,883 (GRCm39)	I408M	possibly damaging	Het
Zfp952	A	G	17: 33,222,756 (GRCm39)	I412V	probably benign	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
IGL03037: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
R8139:Lyl1	UTSW	8	85,429,476 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATATAGGCTTCCTGGTGCGG -3'
(R):5'- AAGCCACTGCAAGTAGCCTG -3'

Sequencing Primer
(F):5'- AAACGGCTGTGCTGACCTC -3'
(R):5'- CTGCAAGTAGCCTGTGGGAG -3'

Posted On

2019-10-17