Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Mybl1'

455286

Institutional Source

Beutler Lab

Gene Symbol

Mybl1

Ensembl Gene

ENSMUSG00000025912

Gene Name

myeloblastosis oncogene-like 1

Synonyms

G1-419-6, A-myb, repro9

MMRRC Submission

044080-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9737640-9770434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9755890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 220 (T220S)

Ref Sequence

ENSEMBL: ENSMUSP00000086034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088658] [ENSMUST00000115468]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088658
AA Change: T220S

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: T220S

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: T220S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: T220S

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

noncoding transcript
Transcript: ENSMUST00000160451

Predicted Effect

unknown
Transcript: ENSMUST00000188212
AA Change: T224S

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167 (GRCm39)		probably null	Het
4930505A04Rik	T	A	11: 30,376,220 (GRCm39)	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,223,975 (GRCm39)		probably benign	Het
Abcc4	G	T	14: 118,763,702 (GRCm39)	D1044E	probably benign	Het
Adgre4	A	G	17: 56,159,282 (GRCm39)	T656A	probably benign	Het
Ankk1	T	C	9: 49,327,196 (GRCm39)	N661S	probably benign	Het
Asah2	A	G	19: 31,981,082 (GRCm39)		probably null	Het
Asxl3	A	G	18: 22,649,142 (GRCm39)	D377G	probably benign	Het
C3ar1	A	G	6: 122,827,381 (GRCm39)	S279P	probably benign	Het
C7	A	G	15: 5,034,717 (GRCm39)	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,442,891 (GRCm39)	A48S	probably benign	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Casc3	A	G	11: 98,712,270 (GRCm39)	Y103C	unknown	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Col14a1	A	G	15: 55,309,182 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,962,512 (GRCm39)	S110P	probably benign	Het
Cpt1b	T	C	15: 89,304,931 (GRCm39)	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cyp2b23	C	T	7: 26,374,431 (GRCm39)	R271H	probably benign	Het
Dnah17	T	C	11: 117,947,723 (GRCm39)	I3039V	probably benign	Het
Dnpep	T	C	1: 75,291,787 (GRCm39)	D242G	probably damaging	Het
Dock10	T	A	1: 80,551,855 (GRCm39)	N660I	probably damaging	Het
Esco2	T	C	14: 66,061,640 (GRCm39)	D471G	probably benign	Het
Evpl	A	T	11: 116,125,258 (GRCm39)	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,389,850 (GRCm39)	I142F	probably damaging	Het
Fry	C	A	5: 150,302,350 (GRCm39)	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,801,472 (GRCm39)	F92I	probably benign	Het
Galm	A	G	17: 80,445,532 (GRCm39)	E94G	probably benign	Het
Gfy	T	G	7: 44,827,004 (GRCm39)	H364P	probably damaging	Het
Helz2	A	G	2: 180,875,821 (GRCm39)	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,598,527 (GRCm39)	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 62,855,170 (GRCm39)		probably null	Het
Igkv4-90	T	A	6: 68,784,453 (GRCm39)	N21I	probably benign	Het
Kpna1	A	G	16: 35,834,598 (GRCm39)		probably benign	Het
Krt28	A	C	11: 99,257,716 (GRCm39)	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,545,936 (GRCm39)	V578A	probably damaging	Het
Lta4h	T	C	10: 93,305,052 (GRCm39)		probably null	Het
Matk	T	A	10: 81,095,963 (GRCm39)	V166E	probably benign	Het
Muc4	C	A	16: 32,570,113 (GRCm39)	T391K	possibly damaging	Het
Nrp1	T	C	8: 129,194,858 (GRCm39)	V438A	probably damaging	Het
Or2y6	A	T	11: 52,104,180 (GRCm39)	L212Q	probably damaging	Het
Or6p1	T	A	1: 174,258,348 (GRCm39)	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,785,110 (GRCm39)	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,016,388 (GRCm39)	D911V	probably damaging	Het
Pkd1	A	G	17: 24,788,804 (GRCm39)	Q854R	probably benign	Het
Ppl	A	G	16: 4,923,913 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,617 (GRCm39)	T416A	probably benign	Het
Prdm15	T	C	16: 97,609,889 (GRCm39)	D585G	probably damaging	Het
Rbak	A	G	5: 143,159,466 (GRCm39)	V529A	probably benign	Het
Rc3h1	C	T	1: 160,787,071 (GRCm39)	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,763,242 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,901,818 (GRCm39)	N792S	probably benign	Het
Tat	T	C	8: 110,718,581 (GRCm39)		probably null	Het
Tbx21	A	T	11: 97,005,474 (GRCm39)		probably null	Het
Txndc11	A	G	16: 10,893,069 (GRCm39)	L887P	probably damaging	Het
Usp10	A	G	8: 120,673,831 (GRCm39)	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,038,633 (GRCm39)	H736L	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,157,204 (GRCm39)	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,242,020 (GRCm39)	R36*	probably null	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
IGL02527:Mybl1	APN	1	9,760,373 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CACGCACTATATTTCTCAATGTGG -3'
(R):5'- TAACCTCGGTGACACAAGGG -3'

Sequencing Primer
(F):5'- AGGAAACTTTCAAGTGAAATTTGTAC -3'
(R):5'- CAGAGCGGTCTTCATCAA -3'

Posted On

2017-02-10