Mutagenetix > Incidental Mutation

Incidental Mutation 'R8322:Mybl1'

641990

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R8322 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9667415-9700209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9676281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 385 (S385P)

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: S385P

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

SMART Domains

Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: S385P

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: S385P

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

SMART Domains

Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: S385P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,445,375	S209G	probably benign	Het
Aars	T	C	8: 111,045,528	L450P	possibly damaging	Het
Acsbg1	G	A	9: 54,615,984	T453M	probably benign	Het
Aff3	A	G	1: 38,181,661	S1100P	possibly damaging	Het
B4galt5	G	A	2: 167,348,929	A35V	probably benign	Het
BC017158	C	T	7: 128,290,614	R1H	probably damaging	Het
C1qtnf1	T	C	11: 118,447,857	S118P	probably benign	Het
Ceacam20	A	T	7: 19,971,703	E206D	probably damaging	Het
Celsr3	T	C	9: 108,848,794	L3066P	probably damaging	Het
Cers3	T	G	7: 66,789,638	L299R	probably damaging	Het
Cfhr2	G	T	1: 139,810,958	H288Q	probably benign	Het
Cnot1	A	T	8: 95,769,844	M278K	probably benign	Het
Cnot10	T	C	9: 114,627,469	E166G	probably damaging	Het
Ctsd	T	A	7: 142,385,460	D76V	probably damaging	Het
Cyp1a1	T	A	9: 57,702,720	F472L	probably damaging	Het
Dupd1	A	T	14: 21,702,882	D65E	probably damaging	Het
Dusp19	T	A	2: 80,624,291	D118E	probably damaging	Het
Eif2ak3	C	A	6: 70,878,919	R236S	probably damaging	Het
Fam169a	A	G	13: 97,122,752	T439A	probably benign	Het
Flg	T	C	3: 93,284,332	Y11H	unknown	Het
Fn1	T	A	1: 71,628,459	I792L	probably benign	Het
Fzd7	T	C	1: 59,483,083	S42P	probably benign	Het
Gimap3	A	G	6: 48,765,436	S187P	possibly damaging	Het
Gli1	C	A	10: 127,331,608	R592L	probably damaging	Het
Glt8d2	A	T	10: 82,662,203	I124N	probably damaging	Het
Hbp1	C	T	12: 31,933,388	D356N	probably damaging	Het
Hif1a	T	C	12: 73,939,599	S367P	probably benign	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Itpr1	C	A	6: 108,388,229	N880K	probably benign	Het
Kank1	T	C	19: 25,378,478		probably benign	Het
Kat2a	T	C	11: 100,712,290	T39A	unknown	Het
Kcnk2	T	A	1: 189,339,849	Q98L	probably benign	Het
Kcnn4	G	A	7: 24,384,120	G409S	probably benign	Het
Klrb1	T	A	6: 128,713,613	I49F	probably damaging	Het
Larp4	G	A	15: 100,010,356	V573I	probably benign	Het
Lrpprc	A	G	17: 84,740,068		probably null	Het
Nup62	T	C	7: 44,829,016	S152P	possibly damaging	Het
Olfr96	A	G	17: 37,225,350	Y75C	probably damaging	Het
Pcdh12	G	A	18: 38,281,577	Q832*	probably null	Het
Pcid2	A	G	8: 13,078,555	I368T	probably damaging	Het
Pcnx4	T	A	12: 72,556,663	F492I	probably damaging	Het
Pi4ka	A	G	16: 17,357,573	Y464H		Het
Plekhg5	T	G	4: 152,104,744	S260R	possibly damaging	Het
Prkdc	T	A	16: 15,714,141		probably benign	Het
Prr14	A	T	7: 127,473,827	E115D	probably benign	Het
Rab3gap2	A	T	1: 185,246,680	N285Y	probably benign	Het
Rhot1	T	A	11: 80,257,560	C609S	possibly damaging	Het
Rnf123	T	C	9: 108,068,507	Q360R	probably benign	Het
Rnf219	A	T	14: 104,479,655	D427E	probably damaging	Het
Rrp12	T	C	19: 41,880,219	T562A	probably benign	Het
Rundc1	G	A	11: 101,432,166	G317D	probably benign	Het
Slc14a1	A	T	18: 78,102,441	I426N	possibly damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc45a3	A	G	1: 131,977,785	D182G	probably damaging	Het
Sos1	A	T	17: 80,408,299	F1010I	probably damaging	Het
Tap1	A	G	17: 34,193,189	E456G	probably damaging	Het
Tha1	A	T	11: 117,868,667	V332E	probably damaging	Het
Tmem18	T	A	12: 30,588,518	I93N	probably damaging	Het
Tnrc18	A	G	5: 142,726,012	F2664S	probably damaging	Het
Tpm3	T	A	3: 90,073,704		probably benign	Het
Ttc3	A	G	16: 94,454,492	E1615G	probably damaging	Het
Ube3b	A	G	5: 114,402,686	T485A	probably benign	Het
Vmn2r92	A	G	17: 18,166,624	Y75C	probably damaging	Het
Zfp169	T	C	13: 48,491,099	D184G	unknown	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
R1567:Mybl1	UTSW	1	9685751	missense	probably damaging	1.00
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
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'- GAGTGCTAAACTTGACCACATTTGG -3'
(R):5'- AGACAAAGCTTGCTTTTACTGG -3'

Sequencing Primer
(F):5'- CCACATTTGGGGATGTTAAAGG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2020-07-28