Mutagenetix > Incidental Mutation

Incidental Mutation 'R2517:Msi1'

253915

Institutional Source

Beutler Lab

Gene Symbol

Msi1

Ensembl Gene

ENSMUSG00000054256

Gene Name

musashi RNA-binding protein 1

Synonyms

Msi1h, Musahi1, m-Msi-1, Msi1

MMRRC Submission

040421-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R2517 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

115567734-115593757 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115583517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 239 (Y239C)

Ref Sequence

ENSEMBL: ENSMUSP00000120516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000136586] [ENSMUST00000150779]

AlphaFold

Q61474

PDB Structure

Solution structure of the N-terminal RNA-binding domain of mouse Musashi1 [SOLUTION NMR]
MUSASHI1 RBD2, NMR [SOLUTION NMR]
MUSASHI1 RBD2, NMR [SOLUTION NMR]
1H, 13C, and 15N Chemical Shift Assignments for Musashi1 RBD1:r(GUAGU) complex [SOLUTION NMR]

Predicted Effect

unknown
Transcript: ENSMUST00000067168
AA Change: Y212C

SMART Domains

Protein: ENSMUSP00000070415
Gene: ENSMUSG00000054256
AA Change: Y212C

Domain	Start	End	E-Value	Type
RRM	2	67	7.47e-14	SMART
RRM	84	156	4e-23	SMART
low complexity region	258	269	N/A	INTRINSIC
low complexity region	297	304	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130849

Predicted Effect

unknown
Transcript: ENSMUST00000131079
AA Change: Y211C

Predicted Effect

probably damaging
Transcript: ENSMUST00000136586
AA Change: Y136C

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

SMART Domains

Protein: ENSMUSP00000143900
Gene: ENSMUSG00000054256
AA Change: Y136C

Domain	Start	End	E-Value	Type
RRM	7	79	1.7e-25	SMART
transmembrane domain	102	124	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145840

Predicted Effect

probably damaging
Transcript: ENSMUST00000150779
AA Change: Y239C

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

SMART Domains

Protein: ENSMUSP00000120516
Gene: ENSMUSG00000054256
AA Change: Y239C

Domain	Start	End	E-Value	Type
RRM	21	93	2e-23	SMART
RRM	110	182	4e-23	SMART
low complexity region	295	306	N/A	INTRINSIC
low complexity region	334	341	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151444

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mice develop hydrocephalus associated with progressive ventricular dilation, a large domed cranium, thin cerebral cortices, callosal agenesis, aberrant proliferation and polyposis of ependymal cells, intracerebral bleeding, ataxia, dehydration and death at 1-2 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	A	14: 56,019,403 (GRCm39)	E82D	probably damaging	Het
Ago1	G	A	4: 126,333,732 (GRCm39)	R486*	probably null	Het
Ago2	T	A	15: 72,996,091 (GRCm39)	N346I	possibly damaging	Het
Apol11a	A	T	15: 77,401,395 (GRCm39)	D294V	probably benign	Het
Atp13a5	A	G	16: 29,116,215 (GRCm39)	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,595,576 (GRCm39)	P953L	probably damaging	Het
Brca2	A	G	5: 150,463,137 (GRCm39)	D967G	probably benign	Het
Bud13	A	T	9: 46,199,446 (GRCm39)	H269L	probably benign	Het
Cachd1	A	T	4: 100,838,079 (GRCm39)		probably null	Het
Cog3	T	C	14: 75,979,182 (GRCm39)	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492 (GRCm39)	S20P	probably damaging	Het
Col4a3	A	G	1: 82,658,431 (GRCm39)	D838G	unknown	Het
Cwh43	A	T	5: 73,578,886 (GRCm39)	T298S	probably benign	Het
Dip2c	A	G	13: 9,659,041 (GRCm39)	R847G	probably damaging	Het
Dnah2	C	T	11: 69,407,470 (GRCm39)	D438N	probably damaging	Het
Drg2	T	C	11: 60,358,954 (GRCm39)	V358A	probably damaging	Het
Eif4enif1	T	A	11: 3,171,168 (GRCm39)	W220R	probably damaging	Het
Enpp2	A	T	15: 54,783,090 (GRCm39)	I75K	probably damaging	Het
Fam110c	T	C	12: 31,125,238 (GRCm39)	I400T	probably damaging	Het
Fam193b	C	A	13: 55,690,629 (GRCm39)	R711L	probably damaging	Het
Fgfr1	T	C	8: 26,053,462 (GRCm39)	Y246H	probably damaging	Het
Frs3	G	A	17: 48,013,997 (GRCm39)	R230Q	probably benign	Het
Galnt5	A	G	2: 57,889,425 (GRCm39)	K342E	probably benign	Het
Glrb	A	T	3: 80,769,054 (GRCm39)	L189Q	probably damaging	Het
Gmeb2	T	C	2: 180,900,819 (GRCm39)	T193A	probably benign	Het
Gnl3	A	G	14: 30,736,120 (GRCm39)	S307P	probably damaging	Het
Golim4	A	T	3: 75,800,166 (GRCm39)	F443I	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Klf10	A	C	15: 38,297,357 (GRCm39)	Y228D	probably benign	Het
Klrc3	A	T	6: 129,616,520 (GRCm39)	W166R	probably damaging	Het
Kng2	A	T	16: 22,807,065 (GRCm39)	I378N	probably benign	Het
Map3k10	T	C	7: 27,362,688 (GRCm39)	K466R	possibly damaging	Het
Mrrf	C	T	2: 36,079,109 (GRCm39)	T245M	probably benign	Het
Nfasc	A	G	1: 132,525,501 (GRCm39)		probably null	Het
Or1x6	T	A	11: 50,939,300 (GRCm39)	L122Q	probably damaging	Het
Or7g25	A	T	9: 19,160,357 (GRCm39)	C113S	probably benign	Het
P3r3urf	A	G	4: 116,030,791 (GRCm39)	D65G	probably benign	Het
Pkd1l1	T	C	11: 8,908,900 (GRCm39)	E368G	unknown	Het
Polq	G	A	16: 36,909,687 (GRCm39)	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,893,942 (GRCm39)	I134L	probably damaging	Het
Rasip1	A	T	7: 45,284,247 (GRCm39)	I608F	probably damaging	Het
Ripk3	A	T	14: 56,025,492 (GRCm39)	V24E	probably damaging	Het
Rtkn	T	A	6: 83,124,526 (GRCm39)	I110N	probably damaging	Het
Scn1a	C	T	2: 66,104,176 (GRCm39)	V1695I	probably damaging	Het
Shank2	A	G	7: 143,606,042 (GRCm39)	N75S	possibly damaging	Het
Snu13	C	A	15: 81,928,182 (GRCm39)	A14S	probably benign	Het
Snx27	A	C	3: 94,438,541 (GRCm39)	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,283 (GRCm39)	I158T	possibly damaging	Het
Sptb	A	G	12: 76,696,643 (GRCm39)	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,817,970 (GRCm39)	L175P	probably damaging	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tecr	C	T	8: 84,299,204 (GRCm39)	V248I	probably benign	Het
Tnfrsf13b	T	G	11: 61,032,302 (GRCm39)	S59A	probably benign	Het
Tom1l1	T	C	11: 90,561,951 (GRCm39)	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,766,362 (GRCm39)	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,692,577 (GRCm39)	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het
Vstm4	T	A	14: 32,585,664 (GRCm39)	M77K	probably benign	Het
Zbtb17	C	T	4: 141,191,896 (GRCm39)	T309I	probably damaging	Het
Zfp957	T	C	14: 79,451,494 (GRCm39)	T102A	probably damaging	Het

Other mutations in Msi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Msi1	APN	5	115,573,580 (GRCm39)	missense	possibly damaging	0.95
IGL01390:Msi1	APN	5	115,576,780 (GRCm39)	missense	possibly damaging	0.72
IGL01585:Msi1	APN	5	115,568,949 (GRCm39)	critical splice donor site	probably null
IGL02232:Msi1	APN	5	115,579,506 (GRCm39)	critical splice donor site	probably null
R0416:Msi1	UTSW	5	115,568,708 (GRCm39)	missense	possibly damaging	0.56
R0828:Msi1	UTSW	5	115,568,953 (GRCm39)	splice site	probably null
R2353:Msi1	UTSW	5	115,574,568 (GRCm39)	intron	probably benign
R4646:Msi1	UTSW	5	115,589,514 (GRCm39)	critical splice acceptor site	probably null
R4663:Msi1	UTSW	5	115,588,334 (GRCm39)	missense	probably damaging	1.00
R4897:Msi1	UTSW	5	115,573,654 (GRCm39)	intron	probably benign
R4963:Msi1	UTSW	5	115,588,944 (GRCm39)	missense	probably damaging	1.00
R5461:Msi1	UTSW	5	115,579,450 (GRCm39)	missense	possibly damaging	0.89
R6019:Msi1	UTSW	5	115,589,550 (GRCm39)	missense	probably damaging	1.00
R6210:Msi1	UTSW	5	115,573,535 (GRCm39)	missense	probably damaging	1.00
R6431:Msi1	UTSW	5	115,588,984 (GRCm39)	missense	probably damaging	0.98
R6957:Msi1	UTSW	5	115,583,483 (GRCm39)	missense	probably benign	0.04
R7105:Msi1	UTSW	5	115,571,929 (GRCm39)	missense	probably damaging	1.00
R8984:Msi1	UTSW	5	115,573,598 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCTAAGGCTTATCTGTGACAAG -3'
(R):5'- GGCAAAACTGTACCATGCAGG -3'

Sequencing Primer
(F):5'- AGGCTTATCTGTGACAAGCTAGC -3'
(R):5'- TGTACCATGCAGGGCTACAC -3'

Posted On

2014-12-04