Mutagenetix > Incidental Mutation

Incidental Mutation 'R4646:Mybl1'

350199

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

041907-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R4646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9667415-9700209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9672286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 625 (S625P)

Ref Sequence

ENSEMBL: ENSMUSP00000111128 (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: S625P

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

SMART Domains

Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: S625P

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: S625P

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

SMART Domains

Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: S625P

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: ENSMUST00000160022

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 102,860,909 (GRCm38)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,293,598 (GRCm38)	Y232F	probably benign	Het
Acadl	A	T	1: 66,831,443 (GRCm38)	S428R	probably benign	Het
Adamts10	A	G	17: 33,545,555 (GRCm38)	D683G	probably damaging	Het
Angptl4	G	A	17: 33,781,299 (GRCm38)	P32S	probably benign	Het
Apob	A	G	12: 8,012,759 (GRCm38)	N134S	probably benign	Het
Atr	G	A	9: 95,871,197 (GRCm38)		probably null	Het
B4galnt1	G	A	10: 127,167,836 (GRCm38)	V223M	probably damaging	Het
Bbs10	A	G	10: 111,301,134 (GRCm38)	K703E	probably benign	Het
C1galt1c1	A	T	X: 38,631,472 (GRCm38)	S216T	probably benign	Het
C2cd3	A	C	7: 100,372,450 (GRCm38)		probably benign	Het
Clca4b	A	C	3: 144,928,525 (GRCm38)	H102Q	probably benign	Het
Cntrl	T	C	2: 35,149,461 (GRCm38)	I557T	probably damaging	Het
Col26a1	G	A	5: 136,847,550 (GRCm38)	S72F	probably damaging	Het
Crocc2	G	A	1: 93,168,794 (GRCm38)	V24M	possibly damaging	Het
Csmd1	T	C	8: 15,932,511 (GRCm38)	I2719V	possibly damaging	Het
Cul9	C	T	17: 46,539,017 (GRCm38)	W502*	probably null	Het
Dazl	A	T	17: 50,288,155 (GRCm38)	F84I	probably damaging	Het
Dcaf1	G	T	9: 106,846,807 (GRCm38)	R478L	probably benign	Het
Dock5	T	G	14: 67,842,779 (GRCm38)	I198L	probably benign	Het
Dock9	A	T	14: 121,586,246 (GRCm38)	L1428H	probably damaging	Het
Dync1li1	T	A	9: 114,709,169 (GRCm38)	V198E	probably damaging	Het
E130309D02Rik	A	T	5: 143,307,985 (GRCm38)	W246R	probably damaging	Het
Egf	A	T	3: 129,720,276 (GRCm38)	C429S	probably damaging	Het
Ehmt1	T	C	2: 24,891,684 (GRCm38)	E7G	probably null	Het
Ercc4	G	T	16: 13,147,574 (GRCm38)	R690L	probably damaging	Het
Erich5	T	C	15: 34,470,966 (GRCm38)	C114R	possibly damaging	Het
Etv1	T	C	12: 38,865,686 (GRCm38)	S428P	possibly damaging	Het
Fbxo31	G	T	8: 121,560,016 (GRCm38)	F174L	probably benign	Het
Fbxo33	T	A	12: 59,204,431 (GRCm38)	I433L	probably benign	Het
Fez2	A	T	17: 78,412,928 (GRCm38)	V99E	probably damaging	Het
Gabarapl2	A	C	8: 111,942,553 (GRCm38)	K48Q	probably damaging	Het
Gfi1b	T	A	2: 28,610,137 (GRCm38)	H294L	probably damaging	Het
Gk2	A	G	5: 97,456,197 (GRCm38)	S261P	probably damaging	Het
Gpr158	T	C	2: 21,827,053 (GRCm38)	I988T	probably benign	Het
Grk3	G	C	5: 112,929,720 (GRCm38)	H394D	probably benign	Het
Grm6	A	G	11: 50,857,206 (GRCm38)	E381G	probably benign	Het
Gtf3c1	A	T	7: 125,659,094 (GRCm38)	M1268K	possibly damaging	Het
Hikeshi	A	T	7: 89,923,646 (GRCm38)	I113N	probably damaging	Het
Hmg20b	T	A	10: 81,348,582 (GRCm38)	Q129L	probably damaging	Het
Hunk	C	A	16: 90,475,903 (GRCm38)	T365K	probably damaging	Het
Kdm5a	T	G	6: 120,374,977 (GRCm38)	V176G	possibly damaging	Het
Kif2a	T	A	13: 106,962,185 (GRCm38)	E691V	probably damaging	Het
Ly6e	T	C	15: 74,958,661 (GRCm38)		probably null	Het
Map1b	G	T	13: 99,432,469 (GRCm38)	P1248Q	unknown	Het
Mettl25	A	G	10: 105,826,555 (GRCm38)	S185P	probably damaging	Het
Mfap3l	T	A	8: 60,671,150 (GRCm38)	V142D	probably damaging	Het
Mip	T	A	10: 128,227,053 (GRCm38)	H122Q	probably benign	Het
Mkx	G	A	18: 6,992,040 (GRCm38)	T280I	probably benign	Het
Msi1	A	T	5: 115,451,455 (GRCm38)		probably null	Het
Mtcl2	T	C	2: 157,020,506 (GRCm38)	E1501G	probably damaging	Het
Muc5b	A	G	7: 141,862,640 (GRCm38)	M3108V	probably benign	Het
Myo7b	C	A	18: 31,994,369 (GRCm38)	V627F	probably benign	Het
Ndst3	A	T	3: 123,672,035 (GRCm38)	I96N	probably damaging	Het
Nrp1	A	T	8: 128,457,944 (GRCm38)	T357S	probably benign	Het
Obscn	G	T	11: 59,124,570 (GRCm38)	Y1050*	probably null	Het
Or2ak7	A	G	11: 58,684,730 (GRCm38)	N286D	probably damaging	Het
Or2d4	A	T	7: 106,944,340 (GRCm38)	N220K	probably benign	Het
Or2y1c	A	C	11: 49,470,624 (GRCm38)	I158L	probably benign	Het
Or4c107	T	A	2: 88,959,212 (GRCm38)	F249I	probably damaging	Het
Or5d47	A	T	2: 87,973,798 (GRCm38)	I289K	probably benign	Het
Or5i1	T	C	2: 87,783,221 (GRCm38)	V227A	possibly damaging	Het
Otof	T	C	5: 30,383,570 (GRCm38)	E875G	possibly damaging	Het
Pick1	A	T	15: 79,248,937 (GRCm38)	D399V	probably benign	Het
Pik3c2g	T	A	6: 139,720,018 (GRCm38)	S22T	probably benign	Het
Pnpla2	A	G	7: 141,458,661 (GRCm38)	E276G	possibly damaging	Het
Pomk	A	T	8: 25,983,605 (GRCm38)	S107T	probably damaging	Het
Rbm46	A	T	3: 82,864,458 (GRCm38)	D283E	probably benign	Het
Rimbp3	A	G	16: 17,213,098 (GRCm38)	D1462G	probably damaging	Het
Rnf112	T	A	11: 61,452,110 (GRCm38)	E230V	probably damaging	Het
Rock1	T	C	18: 10,112,391 (GRCm38)	T455A	probably benign	Het
Rtp4	A	T	16: 23,610,040 (GRCm38)	M18L	probably benign	Het
Scaf11	A	T	15: 96,420,100 (GRCm38)		probably null	Het
Schip1	T	C	3: 68,064,964 (GRCm38)	V8A	probably benign	Het
Sec31b	T	C	19: 44,526,621 (GRCm38)	H351R	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351 (GRCm38)	D378G	probably benign	Het
Sowahb	T	C	5: 93,042,856 (GRCm38)	D668G	probably damaging	Het
Spam1	A	G	6: 24,800,587 (GRCm38)	T442A	probably benign	Het
Syt14	T	A	1: 192,933,325 (GRCm38)	Y451F	probably damaging	Het
Tafa5	T	G	15: 87,720,582 (GRCm38)	S115A	probably damaging	Het
Tdh	A	G	14: 63,493,756 (GRCm38)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,488,082 (GRCm38)	M197K	probably benign	Het
Thbs1	G	A	2: 118,118,329 (GRCm38)	A489T	probably benign	Het
Tnfaip1	C	T	11: 78,529,182 (GRCm38)	R88Q	probably damaging	Het
Tnn	T	C	1: 160,146,042 (GRCm38)	M252V	probably benign	Het
Trdn	G	T	10: 33,195,981 (GRCm38)	E215*	probably null	Het
Trim55	T	C	3: 19,671,122 (GRCm38)	F268L	probably benign	Het
Trmt112	T	A	19: 6,910,448 (GRCm38)	V55E	possibly damaging	Het
Tube1	A	G	10: 39,142,367 (GRCm38)	M147V	possibly damaging	Het
Ubn1	A	G	16: 5,077,987 (GRCm38)	T966A	probably damaging	Het
Unc80	A	G	1: 66,669,235 (GRCm38)	I2651V	probably benign	Het
Vmn1r172	G	A	7: 23,660,494 (GRCm38)	R268H	probably benign	Het
Vmn1r231	T	A	17: 20,890,309 (GRCm38)	I115F	probably damaging	Het
Vmn1r237	A	G	17: 21,314,138 (GRCm38)	K41R	probably benign	Het
Vmn2r58	A	T	7: 41,860,511 (GRCm38)	N547K	probably damaging	Het
Vmn2r74	T	C	7: 85,957,574 (GRCm38)	D188G	probably benign	Het
Vwa5b2	A	G	16: 20,596,329 (GRCm38)	K367R	probably damaging	Het
Washc4	T	A	10: 83,574,543 (GRCm38)	M665K	possibly damaging	Het
Wbp11	T	A	6: 136,821,191 (GRCm38)	Y236F	probably benign	Het
Wbp4	T	A	14: 79,472,361 (GRCm38)	I145F	possibly damaging	Het
Wwc2	C	A	8: 47,920,601 (GRCm38)	D77Y	probably damaging	Het
Zpld2	G	A	4: 134,202,148 (GRCm38)	A282V	probably benign	Het

Other mutations in Mybl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Mybl1	APN	1	9,671,679 (GRCm38)	missense	probably damaging	1.00
IGL01431:Mybl1	APN	1	9,672,647 (GRCm38)	missense	probably damaging	0.97
IGL01733:Mybl1	APN	1	9,685,710 (GRCm38)	missense	possibly damaging	0.94
IGL01903:Mybl1	APN	1	9,671,576 (GRCm38)	splice site	probably null
IGL02527:Mybl1	APN	1	9,690,148 (GRCm38)	missense	probably damaging	0.99
IGL02729:Mybl1	APN	1	9,672,570 (GRCm38)	missense	probably benign	0.22
IGL02810:Mybl1	APN	1	9,678,388 (GRCm38)	missense	probably benign
IGL02810:Mybl1	APN	1	9,673,115 (GRCm38)	missense	probably damaging	1.00
IGL03369:Mybl1	APN	1	9,672,555 (GRCm38)	missense	probably damaging	0.99
R0696:Mybl1	UTSW	1	9,673,148 (GRCm38)	missense	probably damaging	1.00
R1453:Mybl1	UTSW	1	9,671,676 (GRCm38)	missense	probably benign	0.27
R1476:Mybl1	UTSW	1	9,672,661 (GRCm38)	splice site	probably null
R1567:Mybl1	UTSW	1	9,685,751 (GRCm38)	missense	probably damaging	1.00
R3110:Mybl1	UTSW	1	9,681,870 (GRCm38)	missense	probably damaging	1.00
R3112:Mybl1	UTSW	1	9,681,870 (GRCm38)	missense	probably damaging	1.00
R3438:Mybl1	UTSW	1	9,687,645 (GRCm38)	missense	probably damaging	1.00
R3801:Mybl1	UTSW	1	9,673,214 (GRCm38)	missense	probably damaging	1.00
R4333:Mybl1	UTSW	1	9,672,298 (GRCm38)	missense	probably damaging	1.00
R4705:Mybl1	UTSW	1	9,690,115 (GRCm38)	missense	probably damaging	0.99
R5873:Mybl1	UTSW	1	9,685,665 (GRCm38)	missense	possibly damaging	0.75
R6326:Mybl1	UTSW	1	9,678,507 (GRCm38)	critical splice acceptor site	probably null
R6444:Mybl1	UTSW	1	9,685,692 (GRCm38)	missense	possibly damaging	0.93
R6801:Mybl1	UTSW	1	9,683,128 (GRCm38)	missense	probably benign	0.42
R7168:Mybl1	UTSW	1	9,678,288 (GRCm38)	missense	probably damaging	1.00
R8322:Mybl1	UTSW	1	9,676,281 (GRCm38)	missense	probably damaging	1.00
R9369:Mybl1	UTSW	1	9,672,604 (GRCm38)	missense	probably damaging	1.00
R9459:Mybl1	UTSW	1	9,676,259 (GRCm38)	missense	possibly damaging	0.86
Z1176:Mybl1	UTSW	1	9,685,769 (GRCm38)	missense	probably damaging	0.99
Z1177:Mybl1	UTSW	1	9,676,040 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTCTCTGAACTAGGCAAAATAACC -3'
(R):5'- TAATTTTGGCTGCCCTCAAAC -3'

Sequencing Primer
(F):5'- CTGGCCAAGCAATCCATAT -3'
(R):5'- GGCTGCCCTCAAACTTCCAAAC -3'

Posted On

2015-10-08