Mutagenetix > Incidental Mutation

Incidental Mutation 'R5441:Msi2'

427190

Institutional Source

Beutler Lab

Gene Symbol

Msi2

Ensembl Gene

ENSMUSG00000069769

Gene Name

musashi RNA-binding protein 2

Synonyms

Musashi2, msi2h

MMRRC Submission

043006-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88230208-88609197 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 88370818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092794] [ENSMUST00000107909]

AlphaFold

Q920Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000092794

SMART Domains

Protein: ENSMUSP00000090470
Gene: ENSMUSG00000069769

Domain	Start	End	E-Value	Type
RRM	22	94	3.53e-24	SMART
RRM	111	183	1.62e-23	SMART
low complexity region	241	260	N/A	INTRINSIC
low complexity region	275	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107909

SMART Domains

Protein: ENSMUSP00000103542
Gene: ENSMUSG00000069769

Domain	Start	End	E-Value	Type
RRM	22	94	3.53e-24	SMART
RRM	111	183	1.62e-23	SMART
low complexity region	241	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148013

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality, decreased body size, and decreased hematopoietic stem cells. Mice homozygous for a conditional knock-out allele exhibit impaired hematopoietic stem cell physiology upon induction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,334,215 (GRCm39)	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,196,420 (GRCm39)	F261I	probably damaging	Het
Atm	C	A	9: 53,427,767 (GRCm39)	G448*	probably null	Het
Atmin	T	A	8: 117,684,696 (GRCm39)	D785E	probably damaging	Het
Car1	G	C	3: 14,841,364 (GRCm39)	R90G	probably damaging	Het
Cdh11	T	C	8: 103,374,178 (GRCm39)	D520G	probably benign	Het
Cers5	T	A	15: 99,649,119 (GRCm39)	K50*	probably null	Het
Chad	A	T	11: 94,459,118 (GRCm39)	D340V	probably benign	Het
Cspg5	T	C	9: 110,075,711 (GRCm39)	I68T	probably benign	Het
Fcgbpl1	C	T	7: 27,856,339 (GRCm39)	T2042M	probably damaging	Het
Fcrla	T	A	1: 170,752,991 (GRCm39)		probably benign	Het
Fer1l4	T	A	2: 155,865,177 (GRCm39)	D1608V	probably benign	Het
Fzd5	T	A	1: 64,774,576 (GRCm39)	Q395L	probably benign	Het
Gm7664	T	A	13: 62,676,464 (GRCm39)		probably benign	Het
Hk3	T	C	13: 55,162,869 (GRCm39)	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,296,428 (GRCm39)	E2677K	possibly damaging	Het
Hydin	T	C	8: 111,291,741 (GRCm39)	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,533,254 (GRCm39)	H70Y	possibly damaging	Het
Napsa	T	A	7: 44,230,817 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,153,578 (GRCm39)	L710M	probably damaging	Het
Or10g1	T	A	14: 52,647,414 (GRCm39)	K305M	probably benign	Het
Or12d13	T	C	17: 37,647,159 (GRCm39)		probably null	Het
Or5m13	T	A	2: 85,748,934 (GRCm39)	F222I	probably benign	Het
Or6ae1	T	C	7: 139,742,564 (GRCm39)	T100A	probably benign	Het
Or9a2	C	T	6: 41,748,782 (GRCm39)	M150I	probably benign	Het
Plbd2	T	A	5: 120,637,147 (GRCm39)	Y105F	probably benign	Het
Plppr5	A	T	3: 117,456,120 (GRCm39)	I214F	possibly damaging	Het
Pramel34	A	T	5: 93,784,456 (GRCm39)	M139K	possibly damaging	Het
Ptcd3	A	G	6: 71,858,505 (GRCm39)	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,530,767 (GRCm39)	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,766,408 (GRCm39)	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,299,846 (GRCm39)	D192N	probably damaging	Het
Ropn1	A	G	16: 34,487,167 (GRCm39)	I34M	probably damaging	Het
Rpe65	G	T	3: 159,310,038 (GRCm39)	G104C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,582 (GRCm39)		probably benign	Het
Sh3bgr	T	C	16: 96,007,117 (GRCm39)	I29T	possibly damaging	Het
Smg1	T	C	7: 117,794,304 (GRCm39)		probably benign	Het
Stim2	T	A	5: 54,232,712 (GRCm39)	C68*	probably null	Het
Syne2	G	A	12: 76,035,917 (GRCm39)	V3736I	possibly damaging	Het
Tbx19	T	C	1: 164,981,249 (GRCm39)	N82D	probably damaging	Het
Tdp1	T	A	12: 99,876,544 (GRCm39)	V353D	probably damaging	Het
Tg	T	A	15: 66,568,369 (GRCm39)	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,887,066 (GRCm39)	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,676,062 (GRCm39)	M373K	probably damaging	Het
Tmprss15	T	A	16: 78,868,335 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Ube2o	G	A	11: 116,435,268 (GRCm39)	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,993,703 (GRCm39)	F382L	probably benign	Het
Vav2	A	T	2: 27,160,122 (GRCm39)		probably benign	Het
Vmn1r207	T	C	13: 22,910,686 (GRCm39)		noncoding transcript	Het
Zan	T	A	5: 137,435,013 (GRCm39)	I2127F	unknown	Het
Zfp748	C	A	13: 67,688,737 (GRCm39)	C841F	probably damaging	Het
Zic4	C	A	9: 91,266,253 (GRCm39)	P299Q	probably damaging	Het

Other mutations in Msi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Mikimoto	UTSW	11	88,257,610 (GRCm39)	critical splice donor site	probably null
Mixmaster	UTSW	11	88,607,406 (GRCm39)	missense	probably damaging	1.00
miyamoto	UTSW	11	88,607,406 (GRCm39)	missense	probably damaging	1.00
P0027:Msi2	UTSW	11	88,285,423 (GRCm39)	missense	probably damaging	1.00
R1366:Msi2	UTSW	11	88,607,406 (GRCm39)	missense	probably damaging	1.00
R2208:Msi2	UTSW	11	88,480,934 (GRCm39)	missense	probably damaging	1.00
R2414:Msi2	UTSW	11	88,607,373 (GRCm39)	missense	probably damaging	1.00
R4151:Msi2	UTSW	11	88,608,870 (GRCm39)	missense	probably damaging	1.00
R4166:Msi2	UTSW	11	88,237,914 (GRCm39)	missense	probably benign	0.29
R4494:Msi2	UTSW	11	88,608,185 (GRCm39)	missense	possibly damaging	0.91
R4647:Msi2	UTSW	11	88,608,864 (GRCm39)	missense	possibly damaging	0.83
R4952:Msi2	UTSW	11	88,257,610 (GRCm39)	critical splice donor site	probably null
R4975:Msi2	UTSW	11	88,285,481 (GRCm39)	missense	probably damaging	1.00
R5441:Msi2	UTSW	11	88,608,921 (GRCm39)	intron	probably benign
R5715:Msi2	UTSW	11	88,276,889 (GRCm39)	missense	probably damaging	1.00
R5768:Msi2	UTSW	11	88,608,564 (GRCm39)	missense	probably damaging	1.00
R7297:Msi2	UTSW	11	88,370,864 (GRCm39)	missense	probably damaging	0.97
R7505:Msi2	UTSW	11	88,304,743 (GRCm39)	missense	possibly damaging	0.89
R9157:Msi2	UTSW	11	88,608,889 (GRCm39)	missense	probably benign	0.04
T0722:Msi2	UTSW	11	88,285,423 (GRCm39)	missense	probably damaging	1.00
Z1176:Msi2	UTSW	11	88,239,618 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATTTCAGCCAGGACTCGC -3'
(R):5'- CTAAGATTATGCCAAGTTGAGGGG -3'

Sequencing Primer
(F):5'- GCTAGCCAAGATGGTTTTCAC -3'
(R):5'- CCCCATAAACATTCTCTATTTGAGC -3'

Posted On

2016-09-01