Mutagenetix > Incidental Mutation

Incidental Mutation 'R7105:Msi1'

551099

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

045197-MU

Accession Numbers

Essential gene?

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

Stock #

R7105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115567734-115593757 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 115571929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 96 (F96V)

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

SMART Domains

Protein: ENSMUSP00000070415
Gene: ENSMUSG00000054256
AA Change: F69V

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

probably benign
Transcript: ENSMUST00000136586

SMART Domains

Protein: ENSMUSP00000143900
Gene: ENSMUSG00000054256

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

probably damaging
Transcript: ENSMUST00000150779
AA Change: F96V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120516
Gene: ENSMUSG00000054256
AA Change: F96V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (65/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,347,842 (GRCm39)	I3565N	probably damaging	Het
Adam8	T	C	7: 139,569,968 (GRCm39)	E99G	probably benign	Het
Adnp2	A	C	18: 80,171,366 (GRCm39)	H1014Q	possibly damaging	Het
Agbl4	T	A	4: 111,423,920 (GRCm39)	N315K	probably benign	Het
Ankrd33b	G	T	15: 31,305,214 (GRCm39)	N183K	probably damaging	Het
Arhgef39	A	G	4: 43,498,913 (GRCm39)	S113P	possibly damaging	Het
Bdp1	G	A	13: 100,206,689 (GRCm39)	P618S	probably damaging	Het
Bhlhe40	C	T	6: 108,641,997 (GRCm39)	P314S	possibly damaging	Het
Birc2	A	C	9: 7,819,442 (GRCm39)	I490S	probably damaging	Het
Blm	T	C	7: 80,149,516 (GRCm39)	I698V	probably benign	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
Car12	A	G	9: 66,659,688 (GRCm39)	T238A	probably damaging	Het
Cend1	G	A	7: 141,007,565 (GRCm39)	P85L	probably benign	Het
Cftr	A	T	6: 18,318,971 (GRCm39)	D1337V	probably damaging	Het
Chsy3	T	A	18: 59,309,491 (GRCm39)	M248K	probably damaging	Het
Chtf8	A	G	8: 107,611,883 (GRCm39)	F352S	probably damaging	Het
Cimip4	T	A	15: 78,270,318 (GRCm39)	D150V	possibly damaging	Het
Csf2ra	T	C	19: 61,213,458 (GRCm39)	D384G	possibly damaging	Het
Ctnnbip1	T	C	4: 149,630,937 (GRCm39)	S59P	probably benign	Het
Cyth3	A	G	5: 143,693,027 (GRCm39)	N312D	probably benign	Het
Dtnb	T	C	12: 3,698,391 (GRCm39)		probably null	Het
Duox2	A	G	2: 122,120,033 (GRCm39)	S826P	possibly damaging	Het
Enthd1	C	T	15: 80,393,410 (GRCm39)	A273T	probably benign	Het
Gm3138	T	C	14: 15,632,304 (GRCm39)	V159A	possibly damaging	Het
Hhip	T	C	8: 80,701,638 (GRCm39)	D632G	probably benign	Het
Igfn1	A	T	1: 135,911,956 (GRCm39)	C114S	probably benign	Het
Islr2	T	C	9: 58,105,097 (GRCm39)	D765G	probably damaging	Het
Klf14	TCCCC	TCCC	6: 30,935,476 (GRCm39)		probably null	Het
Mapk12	G	A	15: 89,015,361 (GRCm39)	P362L	probably benign	Het
Mthfd1l	T	C	10: 4,053,261 (GRCm39)	V870A	probably benign	Het
Nfat5	T	C	8: 108,095,823 (GRCm39)	S1355P	possibly damaging	Het
Oplah	T	C	15: 76,181,887 (GRCm39)	N1079D	probably damaging	Het
Or2ah1	G	T	2: 85,654,224 (GRCm39)	R303M	probably benign	Het
Osbpl1a	T	A	18: 12,900,020 (GRCm39)	I645F	probably benign	Het
Pank4	T	C	4: 155,064,624 (GRCm39)	S728P	probably benign	Het
Parp2	TTGCCATAAGTGCTAAATGAAGCC	T	14: 51,047,521 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,208,857 (GRCm39)	I2503T	unknown	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhs1	T	A	19: 56,465,647 (GRCm39)	F204Y	probably damaging	Het
Pramel26	T	C	4: 143,537,341 (GRCm39)	N330S	probably benign	Het
Pramel32	G	A	4: 88,548,339 (GRCm39)	S22F	probably damaging	Het
Prep	T	A	10: 45,002,159 (GRCm39)	I438N	probably benign	Het
Prss58	T	C	6: 40,874,700 (GRCm39)	H47R	probably damaging	Het
Rad51ap2	T	G	12: 11,508,278 (GRCm39)	D733E	possibly damaging	Het
Robo1	A	T	16: 72,539,049 (GRCm39)	I31F	probably damaging	Het
Setd2	A	G	9: 110,377,328 (GRCm39)	Y381C	probably damaging	Het
Slc47a2	A	G	11: 61,233,269 (GRCm39)	V87A	probably benign	Het
Slc5a9	T	C	4: 111,755,892 (GRCm39)	N2S	probably benign	Het
Spata13	A	G	14: 60,991,319 (GRCm39)	D1024G	probably damaging	Het
Stat1	T	G	1: 52,190,408 (GRCm39)	N554K	probably benign	Het
Suclg2	T	C	6: 95,572,635 (GRCm39)	D110G	possibly damaging	Het
Sult1c2	T	A	17: 54,280,917 (GRCm39)		probably null	Het
Taf5l	A	G	8: 124,729,951 (GRCm39)	I246T	probably damaging	Het
Tcof1	A	T	18: 60,976,368 (GRCm39)	D80E	probably damaging	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tshz3	A	G	7: 36,469,181 (GRCm39)	E390G	probably damaging	Het
Ttn	T	C	2: 76,560,610 (GRCm39)	T29264A	possibly damaging	Het
Ubr5	T	C	15: 38,009,019 (GRCm39)	T1065A		Het
Vcp	A	G	4: 42,985,991 (GRCm39)	V341A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,748 (GRCm39)	L135*	probably null	Het
Vmn1r57	T	A	7: 5,223,499 (GRCm39)	I8N	probably damaging	Het
Ythdc2	C	T	18: 44,967,630 (GRCm39)	P209S	probably damaging	Het
Zfp213	A	T	17: 23,777,178 (GRCm39)	V288D	probably benign	Het
Zfp362	T	C	4: 128,668,319 (GRCm39)	I418V	probably damaging	Het
Zfp707	C	A	15: 75,846,595 (GRCm39)	T215K		Het
Zfp957	G	C	14: 79,450,402 (GRCm39)	R466G	probably benign	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
R2517:Msi1	UTSW	5	115,583,517 (GRCm39)	missense	probably damaging	1.00
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
R8984:Msi1	UTSW	5	115,573,598 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAACCCTGCTACTTGCTTTAAC -3'
(R):5'- AGAGGCTGTGATCCAACAGG -3'

Sequencing Primer
(F):5'- GCTACTTGCTTTAACCACTCTATAG -3'
(R):5'- ACACTCTGGGTCTAAACTGTATTGGC -3'

Posted On

2019-05-15