Mutagenetix > Incidental Mutation

Incidental Mutation 'R9157:Msi2'

695457

Institutional Source

Beutler Lab

Gene Symbol

Msi2

Ensembl Gene

ENSMUSG00000069769

Gene Name

musashi RNA-binding protein 2

Synonyms

Musashi2, msi2h

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88230208-88609197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88608889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 10 (S10A)

Ref Sequence

ENSEMBL: ENSMUSP00000090470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092794] [ENSMUST00000107908] [ENSMUST00000107909] [ENSMUST00000144699]

AlphaFold

Q920Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000092794
AA Change: S10A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000090470
Gene: ENSMUSG00000069769
AA Change: S10A

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: ENSMUST00000107908
AA Change: S10A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103541
Gene: ENSMUSG00000069769
AA Change: S10A

Domain	Start	End	E-Value	Type
RRM	22	94	3.53e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107909
AA Change: S10A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103542
Gene: ENSMUSG00000069769
AA Change: S10A

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

probably benign
Transcript: ENSMUST00000144699

SMART Domains

Protein: ENSMUSP00000119684
Gene: ENSMUSG00000069769

Domain	Start	End	E-Value	Type
RRM	1	72	8.31e-21	SMART
internal_repeat_1	90	113	1.41e-5	PROSPERO

Coding Region Coverage

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

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Adam9	A	T	8: 25,493,331 (GRCm39)	F92L	probably damaging	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Aff3	A	C	1: 38,249,559 (GRCm39)	I516S	probably benign	Het
Bdp1	C	T	13: 100,186,436 (GRCm39)	S1672N	probably benign	Het
Btc	A	T	5: 91,513,980 (GRCm39)	I94N	probably damaging	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Ccdc47	A	T	11: 106,093,208 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,493,419 (GRCm39)	Y814F	possibly damaging	Het
Celsr3	A	T	9: 108,707,185 (GRCm39)	R1223W	probably damaging	Het
Cenpc1	A	G	5: 86,166,316 (GRCm39)	M779T	probably benign	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Depdc5	T	C	5: 33,102,452 (GRCm39)	I986T	probably damaging	Het
Dhx40	A	T	11: 86,662,050 (GRCm39)	I669N	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dzip3	C	T	16: 48,748,124 (GRCm39)	G918D	probably benign	Het
Fam185a	T	G	5: 21,660,837 (GRCm39)	V284G	probably damaging	Het
Fhod3	T	C	18: 25,218,651 (GRCm39)	S805P	probably damaging	Het
Filip1l	A	G	16: 57,391,980 (GRCm39)	N856S	probably benign	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Gm9195	A	G	14: 72,692,038 (GRCm39)	I1616T	unknown	Het
Grm4	T	A	17: 27,653,956 (GRCm39)	I665F	probably benign	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hic1	A	G	11: 75,057,053 (GRCm39)	L612P	possibly damaging	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hspa12a	A	T	19: 58,789,292 (GRCm39)	M448K	possibly damaging	Het
Htt	T	G	5: 34,987,171 (GRCm39)	I1130S	probably null	Het
Irx3	A	G	8: 92,527,694 (GRCm39)	Y59H	probably damaging	Het
Klc4	A	G	17: 46,950,361 (GRCm39)	L280P	probably damaging	Het
Lrp1	G	T	10: 127,410,209 (GRCm39)	N1512K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Ngfr	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 95,478,316 (GRCm39)		probably benign	Het
Nradd	A	G	9: 110,451,188 (GRCm39)	L60P	probably damaging	Het
Nup188	A	G	2: 30,188,456 (GRCm39)	Y39C	probably benign	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or10a2	A	T	7: 106,673,214 (GRCm39)	M60L	probably damaging	Het
Or12d15	A	G	17: 37,694,183 (GRCm39)	M242V	probably benign	Het
Or13d1	A	G	4: 52,971,419 (GRCm39)	Y266C	possibly damaging	Het
Or4b1	A	G	2: 89,979,522 (GRCm39)	I276T	possibly damaging	Het
Osbpl6	C	T	2: 76,382,468 (GRCm39)	P222S	probably benign	Het
Pcdhga3	T	C	18: 37,809,229 (GRCm39)	Y561H	probably benign	Het
Phykpl	G	A	11: 51,490,375 (GRCm39)	V419I	probably benign	Het
Pskh1	A	G	8: 106,640,142 (GRCm39)	Y274C	possibly damaging	Het
Rap1gap	G	T	4: 137,444,742 (GRCm39)	V219F	probably damaging	Het
Rapgef4	C	A	2: 72,005,212 (GRCm39)	H220N	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Reg3d	T	C	6: 78,354,422 (GRCm39)	T60A	possibly damaging	Het
Rgs9	T	A	11: 109,116,549 (GRCm39)	D644V	probably damaging	Het
Rhob	T	A	12: 8,549,319 (GRCm39)	H105L	probably benign	Het
Rph3a	T	C	5: 121,101,892 (GRCm39)	K115E	probably damaging	Het
Rsf1	GG	GGGGACGGCCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Slc15a1	T	C	14: 121,702,389 (GRCm39)	I586V	probably benign	Het
Slc15a5	A	T	6: 137,961,456 (GRCm39)	V213E		Het
Stard13	C	A	5: 151,157,152 (GRCm39)	A10S	probably benign	Het
Taf6	C	A	5: 138,179,221 (GRCm39)	V406F	possibly damaging	Het
Tap2	G	T	17: 34,431,004 (GRCm39)	R368L	possibly damaging	Het
Tmem236	T	C	2: 14,223,889 (GRCm39)	V226A	probably benign	Het
Tmem87a	T	A	2: 120,210,093 (GRCm39)	I287F	possibly damaging	Het
Ttll13	A	T	7: 79,904,428 (GRCm39)	K351I	possibly damaging	Het
Ttn	T	A	2: 76,581,245 (GRCm39)	Y23216F	probably damaging	Het
Vmn2r27	T	C	6: 124,201,244 (GRCm39)	T238A	probably benign	Het
Vmn2r54	T	C	7: 12,366,055 (GRCm39)	Y293C	possibly damaging	Het
Vsig10l	T	C	7: 43,112,948 (GRCm39)	S69P		Het
Wdr83	G	A	8: 85,806,432 (GRCm39)	T122I	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp354a	C	T	11: 50,960,788 (GRCm39)	S332F	probably damaging	Het
Zfp354b	T	C	11: 50,813,887 (GRCm39)	N346S	possibly 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
R5441:Msi2	UTSW	11	88,370,818 (GRCm39)	splice site	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
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'- CGGCCATTTTGACGTGTAACTTAC -3'
(R):5'- ACGACGTTCTAGAACTCCGC -3'

Sequencing Primer
(F):5'- CGTGTAACTTACAAAAGCTAAAAGG -3'
(R):5'- GTTCTAGAACTCCGCCCCACG -3'

Posted On

2022-01-20