Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Mybl1'

175316

Institutional Source

Beutler Lab

Gene Symbol

Mybl1

Ensembl Gene

ENSMUSG00000025912

Gene Name

myeloblastosis oncogene-like 1

Synonyms

A-myb, G1-419-6, repro9

MMRRC Submission

039606-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R1567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9667415-9700209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9685751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 191 (E191V)

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: E191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: E191V

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 damaging
Transcript: ENSMUST00000115468
AA Change: E191V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: E191V

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: E195V

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,431,129	V155I	probably benign	Het
Actrt2	T	C	4: 154,666,914	Q255R	possibly damaging	Het
Adar	A	T	3: 89,735,781	H323L	probably benign	Het
Adgrg5	T	A	8: 94,937,698	V312E	probably damaging	Het
Anapc1	T	C	2: 128,617,716	T1808A	probably damaging	Het
Aox3	C	A	1: 58,194,693	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,546,799	L551Q	probably damaging	Het
Blk	A	G	14: 63,380,729	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490	A325E	probably benign	Het
Cnn3	A	T	3: 121,449,958	K23*	probably null	Het
Cog8	G	A	8: 107,054,108	R173*	probably null	Het
Col11a1	G	A	3: 114,138,612	R880H	unknown	Het
Cyp2c40	T	C	19: 39,803,771	Q243R	probably null	Het
D11Wsu47e	T	A	11: 113,687,902	V41D	probably damaging	Het
Dcbld1	A	G	10: 52,319,656	E391G	probably damaging	Het
Dchs1	C	A	7: 105,771,861	A451S	probably benign	Het
Ddx43	A	G	9: 78,416,709	K441E	probably damaging	Het
Depdc1a	A	T	3: 159,522,540	I310F	possibly damaging	Het
Dnah17	C	T	11: 118,125,985	V247M	probably damaging	Het
Dtd1	G	T	2: 144,747,025	G201V	probably damaging	Het
Enoph1	G	A	5: 100,061,025	G80S	probably benign	Het
Fam76a	A	T	4: 132,917,728	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344	T157P	probably damaging	Het
Gm2016	A	T	12: 87,876,984	I134F	unknown	Het
Gtpbp1	T	C	15: 79,712,190	I310T	probably damaging	Het
Hk3	T	A	13: 55,006,605	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,820,183	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,625,908		probably benign	Het
Itpkb	A	G	1: 180,421,858	T933A	probably benign	Het
Kcnn2	T	G	18: 45,670,334		probably null	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Lmcd1	C	T	6: 112,310,565	R71C	probably damaging	Het
Mrgprb1	A	T	7: 48,447,453	V237E	probably damaging	Het
Nbas	T	A	12: 13,285,278	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,575,211	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,927,050	T27M	probably benign	Het
Notch3	G	A	17: 32,158,580	T174I	possibly damaging	Het
Nup85	T	A	11: 115,568,398	I109K	possibly damaging	Het
Odf3b	C	A	15: 89,377,778	R137L	probably benign	Het
Olfr1255	T	C	2: 89,817,184	L280P	probably damaging	Het
Olfr1298	G	T	2: 111,645,926	Q24K	possibly damaging	Het
Olfr1367	A	T	13: 21,347,425	I166L	probably benign	Het
Olfr138	A	G	17: 38,275,568	I266V	possibly damaging	Het
Olfr1458	T	C	19: 13,102,642	T221A	probably benign	Het
Olfr63	A	G	17: 33,269,476	I251V	probably benign	Het
Phf2	T	C	13: 48,832,113	K64E	unknown	Het
Polr2a	T	C	11: 69,746,031	T365A	probably benign	Het
Prkcd	A	G	14: 30,607,448	C12R	probably benign	Het
Ptprq	T	C	10: 107,565,887	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,162,462	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,101	V395A	probably benign	Het
Ryr2	C	A	13: 11,759,677	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,273,331	I1851F	probably damaging	Het
Selenop	A	G	15: 3,279,698	*377W	probably null	Het
Sema4a	A	T	3: 88,452,046	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Speg	T	C	1: 75,428,047	S2575P	probably benign	Het
Stk24	T	A	14: 121,308,056	I97L	probably benign	Het
Tap2	A	G	17: 34,214,091	K449R	probably benign	Het
Tecpr2	T	A	12: 110,941,596		probably null	Het
Ttn	T	A	2: 76,897,611		probably benign	Het
Uggt2	A	G	14: 119,009,093	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,092,399	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,227,120	L274P	probably benign	Het
Zfp974	C	A	7: 27,910,723	D526Y	probably damaging	Het

Other mutations in Mybl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Mybl1	APN	1	9671679	missense	probably damaging	1.00
IGL01431:Mybl1	APN	1	9672647	missense	probably damaging	0.97
IGL01733:Mybl1	APN	1	9685710	missense	possibly damaging	0.94
IGL01903:Mybl1	APN	1	9671576	splice site	probably null
IGL02527:Mybl1	APN	1	9690148	missense	probably damaging	0.99
IGL02729:Mybl1	APN	1	9672570	missense	probably benign	0.22
IGL02810:Mybl1	APN	1	9673115	missense	probably damaging	1.00
IGL02810:Mybl1	APN	1	9678388	missense	probably benign
IGL03369:Mybl1	APN	1	9672555	missense	probably damaging	0.99
R0696:Mybl1	UTSW	1	9673148	missense	probably damaging	1.00
R1453:Mybl1	UTSW	1	9671676	missense	probably benign	0.27
R1476:Mybl1	UTSW	1	9672661	splice site	probably null
R3110:Mybl1	UTSW	1	9681870	missense	probably damaging	1.00
R3112:Mybl1	UTSW	1	9681870	missense	probably damaging	1.00
R3438:Mybl1	UTSW	1	9687645	missense	probably damaging	1.00
R3801:Mybl1	UTSW	1	9673214	missense	probably damaging	1.00
R4333:Mybl1	UTSW	1	9672298	missense	probably damaging	1.00
R4646:Mybl1	UTSW	1	9672286	missense	probably damaging	1.00
R4705:Mybl1	UTSW	1	9690115	missense	probably damaging	0.99
R5873:Mybl1	UTSW	1	9685665	missense	possibly damaging	0.75
R6326:Mybl1	UTSW	1	9678507	critical splice acceptor site	probably null
R6444:Mybl1	UTSW	1	9685692	missense	possibly damaging	0.93
R6801:Mybl1	UTSW	1	9683128	missense	probably benign	0.42
R7168:Mybl1	UTSW	1	9678288	missense	probably damaging	1.00
R8322:Mybl1	UTSW	1	9676281	missense	probably damaging	1.00
R9369:Mybl1	UTSW	1	9672604	missense	probably damaging	1.00
R9459:Mybl1	UTSW	1	9676259	missense	possibly damaging	0.86
Z1176:Mybl1	UTSW	1	9685769	missense	probably damaging	0.99
Z1177:Mybl1	UTSW	1	9676040	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCACGCACTATATTTCTCAATGTGGA -3'
(R):5'- ACCTCGGTGACACAAGGGACTAA -3'

Sequencing Primer
(F):5'- AAATTTAAGTCTATCCATGTCACTCC -3'
(R):5'- AAATTTGTAGAATTCCTTTCCCCTT -3'

Posted On

2014-04-24