Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02527:Mybl1'

297148

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mybl1

Ensembl Gene

ENSMUSG00000025912

Gene Name

myeloblastosis oncogene-like 1

Synonyms

G1-419-6, A-myb, repro9

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

IGL02527

Quality Score

Status

Chromosome

Chromosomal Location

9737640-9770434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9760373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 75 (H75R)

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: H75R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: H75R

Domain	Start	End	E-Value	Type
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
AA Change: H75R

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: H75R

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000188212
AA Change: H79R

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,638,392 (GRCm39)	V868A	probably damaging	Het
Adam25	T	A	8: 41,206,785 (GRCm39)	I17K	possibly damaging	Het
Arap2	A	T	5: 62,906,650 (GRCm39)	M123K	probably benign	Het
Asic3	A	G	5: 24,621,275 (GRCm39)	M332V	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cand1	A	T	10: 119,042,712 (GRCm39)	M1126K	probably damaging	Het
Capn3	A	G	2: 120,334,966 (GRCm39)	T818A	probably damaging	Het
Cda	G	A	4: 138,070,832 (GRCm39)	Q104*	probably null	Het
Cfhr4	T	C	1: 139,680,783 (GRCm39)	N245S	probably damaging	Het
Cpeb1	T	C	7: 81,009,635 (GRCm39)	D234G	probably damaging	Het
Cpq	A	G	15: 33,302,509 (GRCm39)	Y220C	probably damaging	Het
Diaph3	T	C	14: 87,047,795 (GRCm39)	K1026R	possibly damaging	Het
Dpep1	T	C	8: 123,925,487 (GRCm39)	F47L	probably damaging	Het
Dppa4	G	T	16: 48,109,456 (GRCm39)	R66L	possibly damaging	Het
Elac1	C	A	18: 73,880,304 (GRCm39)	E31*	probably null	Het
Fggy	A	G	4: 95,585,306 (GRCm39)	K62E	probably damaging	Het
Ficd	T	A	5: 113,875,027 (GRCm39)	M32K	probably benign	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Gnb4	G	T	3: 32,644,015 (GRCm39)	T181K	probably benign	Het
Grin2b	T	A	6: 135,900,389 (GRCm39)	Y164F	probably damaging	Het
Hmmr	A	G	11: 40,598,932 (GRCm39)	L564P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,231 (GRCm39)	V257I	probably benign	Het
Itga10	C	A	3: 96,562,940 (GRCm39)		probably benign	Het
Kcnk18	T	C	19: 59,223,707 (GRCm39)	V284A	probably damaging	Het
Klf11	T	A	12: 24,705,322 (GRCm39)	S259T	probably benign	Het
Kmt2d	C	T	15: 98,739,628 (GRCm39)		probably benign	Het
Manea	A	G	4: 26,336,619 (GRCm39)		probably null	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Neb	A	G	2: 52,039,225 (GRCm39)	I6938T	probably benign	Het
Ntrk3	T	C	7: 78,101,697 (GRCm39)	D412G	probably benign	Het
Olah	T	C	2: 3,343,979 (GRCm39)	E211G	probably damaging	Het
Or10ag2	T	C	2: 87,249,181 (GRCm39)	L261S	probably damaging	Het
Paxbp1	A	T	16: 90,834,161 (GRCm39)	N208K	possibly damaging	Het
Prrc1	T	A	18: 57,522,419 (GRCm39)	M417K	probably benign	Het
Ptprq	G	A	10: 107,522,424 (GRCm39)	T543M	probably benign	Het
Rasal1	T	C	5: 120,804,469 (GRCm39)	V447A	probably damaging	Het
Rbl1	T	C	2: 157,035,968 (GRCm39)	E287G	probably benign	Het
Rusf1	T	A	7: 127,875,403 (GRCm39)	T317S	possibly damaging	Het
Tec	A	G	5: 72,936,758 (GRCm39)		probably null	Het
Tex26	A	G	5: 149,380,407 (GRCm39)	D61G	probably damaging	Het
Tgfb1i1	G	A	7: 127,851,734 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,436,675 (GRCm39)	Y55H	possibly damaging	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Umod	C	T	7: 119,068,690 (GRCm39)	G452D	probably damaging	Het
Vcan	G	A	13: 89,838,776 (GRCm39)	T2256I	possibly damaging	Het
Vmn1r31	A	T	6: 58,449,778 (GRCm39)	I29K	probably benign	Het
Vmn2r117	A	G	17: 23,696,199 (GRCm39)	Y403H	possibly damaging	Het
Vmn2r124	A	T	17: 18,286,764 (GRCm39)		probably null	Het
Vmn2r65	T	A	7: 84,595,724 (GRCm39)	K320M	possibly damaging	Het

Other mutations in Mybl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Mybl1	APN	1	9,741,904 (GRCm39)	missense	probably damaging	1.00
IGL01431:Mybl1	APN	1	9,742,872 (GRCm39)	missense	probably damaging	0.97
IGL01733:Mybl1	APN	1	9,755,935 (GRCm39)	missense	possibly damaging	0.94
IGL01903:Mybl1	APN	1	9,741,801 (GRCm39)	splice site	probably null
IGL02729:Mybl1	APN	1	9,742,795 (GRCm39)	missense	probably benign	0.22
IGL02810:Mybl1	APN	1	9,748,613 (GRCm39)	missense	probably benign
IGL02810:Mybl1	APN	1	9,743,340 (GRCm39)	missense	probably damaging	1.00
IGL03369:Mybl1	APN	1	9,742,780 (GRCm39)	missense	probably damaging	0.99
R0696:Mybl1	UTSW	1	9,743,373 (GRCm39)	missense	probably damaging	1.00
R1453:Mybl1	UTSW	1	9,741,901 (GRCm39)	missense	probably benign	0.27
R1476:Mybl1	UTSW	1	9,742,886 (GRCm39)	splice site	probably null
R1567:Mybl1	UTSW	1	9,755,976 (GRCm39)	missense	probably damaging	1.00
R3110:Mybl1	UTSW	1	9,752,095 (GRCm39)	missense	probably damaging	1.00
R3112:Mybl1	UTSW	1	9,752,095 (GRCm39)	missense	probably damaging	1.00
R3438:Mybl1	UTSW	1	9,757,870 (GRCm39)	missense	probably damaging	1.00
R3801:Mybl1	UTSW	1	9,743,439 (GRCm39)	missense	probably damaging	1.00
R4333:Mybl1	UTSW	1	9,742,523 (GRCm39)	missense	probably damaging	1.00
R4646:Mybl1	UTSW	1	9,742,511 (GRCm39)	missense	probably damaging	1.00
R4705:Mybl1	UTSW	1	9,760,340 (GRCm39)	missense	probably damaging	0.99
R5873:Mybl1	UTSW	1	9,755,890 (GRCm39)	missense	possibly damaging	0.75
R6326:Mybl1	UTSW	1	9,748,732 (GRCm39)	critical splice acceptor site	probably null
R6444:Mybl1	UTSW	1	9,755,917 (GRCm39)	missense	possibly damaging	0.93
R6801:Mybl1	UTSW	1	9,753,353 (GRCm39)	missense	probably benign	0.42
R7168:Mybl1	UTSW	1	9,748,513 (GRCm39)	missense	probably damaging	1.00
R8322:Mybl1	UTSW	1	9,746,506 (GRCm39)	missense	probably damaging	1.00
R9369:Mybl1	UTSW	1	9,742,829 (GRCm39)	missense	probably damaging	1.00
R9459:Mybl1	UTSW	1	9,746,484 (GRCm39)	missense	possibly damaging	0.86
Z1176:Mybl1	UTSW	1	9,755,994 (GRCm39)	missense	probably damaging	0.99
Z1177:Mybl1	UTSW	1	9,746,265 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16