Mutagenetix > Incidental Mutation

Incidental Mutation 'R0828:Msi1'

78372

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

039008-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R0828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115567734-115593757 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 115568953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
Transcript: ENSMUST00000067168

SMART Domains

Protein: ENSMUSP00000070415
Gene: ENSMUSG00000054256

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 null
Transcript: ENSMUST00000067168

SMART Domains

Protein: ENSMUSP00000070415
Gene: ENSMUSG00000054256

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

probably null
Transcript: ENSMUST00000131079

Predicted Effect

probably null
Transcript: ENSMUST00000131079

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

noncoding transcript
Transcript: ENSMUST00000139918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145840

Predicted Effect

probably null
Transcript: ENSMUST00000150779

SMART Domains

Protein: ENSMUSP00000120516
Gene: ENSMUSG00000054256

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202960

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	C	T	11: 25,602,020 (GRCm39)	C70Y	unknown	Het
Abi3bp	C	T	16: 56,498,193 (GRCm39)	T929I	probably damaging	Het
Adap2	C	A	11: 80,056,490 (GRCm39)		probably benign	Het
Adgrg5	A	G	8: 95,668,413 (GRCm39)		probably null	Het
Afdn	C	A	17: 14,124,260 (GRCm39)	N1803K	probably damaging	Het
Alox12b	T	C	11: 69,057,132 (GRCm39)	L451P	possibly damaging	Het
Ankrd26	T	C	6: 118,510,434 (GRCm39)		probably benign	Het
Bcr	A	T	10: 74,993,039 (GRCm39)		probably benign	Het
Cacna1c	T	C	6: 118,734,347 (GRCm39)	N300D	probably benign	Het
Camsap1	G	T	2: 25,829,097 (GRCm39)	Q876K	probably damaging	Het
Cdh10	A	G	15: 18,986,837 (GRCm39)	D356G	possibly damaging	Het
Cdipt	T	A	7: 126,576,092 (GRCm39)	Y16N	probably damaging	Het
Cebpz	T	C	17: 79,233,411 (GRCm39)	E772G	probably benign	Het
Cep350	A	G	1: 155,828,992 (GRCm39)	I304T	probably benign	Het
Chpt1	C	A	10: 88,312,277 (GRCm39)	G9V	probably damaging	Het
Col6a5	T	A	9: 105,739,263 (GRCm39)		probably null	Het
Dock7	G	T	4: 98,903,982 (GRCm39)	P688T	probably damaging	Het
Ephb3	T	A	16: 21,037,784 (GRCm39)		probably benign	Het
Fcgr2b	T	C	1: 170,788,599 (GRCm39)	Y336C	probably damaging	Het
Flg2	A	T	3: 93,110,639 (GRCm39)	H889L	unknown	Het
Gucy2c	C	T	6: 136,686,746 (GRCm39)	V806M	probably damaging	Het
Hmgxb3	T	A	18: 61,304,426 (GRCm39)	I55F	probably damaging	Het
Igsf9b	T	A	9: 27,230,901 (GRCm39)	Y301*	probably null	Het
Il12rb2	C	T	6: 67,333,691 (GRCm39)	R196H	probably benign	Het
Itgam	T	C	7: 127,715,677 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,943 (GRCm39)	V283A	probably damaging	Het
Klhl5	T	C	5: 65,320,135 (GRCm39)	L423P	probably damaging	Het
Krt6a	T	C	15: 101,602,271 (GRCm39)	N138S	probably damaging	Het
Lrba	A	T	3: 86,515,677 (GRCm39)		probably null	Het
Map4k5	T	C	12: 69,852,100 (GRCm39)	T828A	probably damaging	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mink1	C	T	11: 70,500,971 (GRCm39)	Q743*	probably null	Het
Mrgpra3	T	C	7: 47,239,884 (GRCm39)	N14S	probably benign	Het
Mroh7	T	C	4: 106,557,073 (GRCm39)	S808G	probably damaging	Het
Nrap	A	G	19: 56,333,990 (GRCm39)	Y874H	probably damaging	Het
Nup205	T	C	6: 35,171,501 (GRCm39)	F455L	probably benign	Het
Or2t1	G	T	14: 14,328,800 (GRCm38)	V230L	probably benign	Het
Piwil2	A	G	14: 70,613,466 (GRCm39)	V894A	probably damaging	Het
Polr1c	A	G	17: 46,555,990 (GRCm39)	S173P	probably damaging	Het
Pphln1-ps1	A	G	16: 13,495,669 (GRCm39)	Y256C	probably damaging	Het
Prep	C	T	10: 45,031,621 (GRCm39)	A564V	probably benign	Het
Rab3gap1	T	C	1: 127,865,922 (GRCm39)		probably benign	Het
Rcc1	G	C	4: 132,063,136 (GRCm39)		probably benign	Het
Scn11a	T	A	9: 119,584,073 (GRCm39)	D1514V	probably benign	Het
Setdb1	G	A	3: 95,246,171 (GRCm39)	P584S	probably damaging	Het
Slc12a7	A	G	13: 73,936,771 (GRCm39)	I144V	probably benign	Het
Slc45a4	T	C	15: 73,458,665 (GRCm39)	M295V	probably benign	Het
Slco1a1	T	A	6: 141,867,565 (GRCm39)	D456V	possibly damaging	Het
Sspo	G	T	6: 48,475,668 (GRCm39)	C4928F	probably damaging	Het
St6galnac1	T	A	11: 116,659,823 (GRCm39)	K163N	probably benign	Het
Tcp11l1	A	T	2: 104,530,181 (GRCm39)		probably benign	Het
Tns1	T	A	1: 73,958,825 (GRCm39)	I1715F	probably damaging	Het
Trpa1	C	T	1: 14,946,108 (GRCm39)	V1008M	probably damaging	Het
Ttc28	A	G	5: 111,371,312 (GRCm39)	E587G	probably damaging	Het
Ubr4	T	C	4: 139,177,864 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp8	G	A	2: 126,584,034 (GRCm39)		probably benign	Het
Zfc3h1	G	T	10: 115,237,612 (GRCm39)	A464S	possibly damaging	Het
Zfp106	T	C	2: 120,366,084 (GRCm39)	I108V	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
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
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'- TACAGAAGGGCTGCGCGAATAC -3'
(R):5'- TTCAGAGAAGCCACCGTGGGTAAC -3'

Sequencing Primer
(F):5'- AATACTTCGGCCAGTTCGG -3'
(R):5'- CAAACTCCATGCAACTGTCC -3'

Posted On

2013-10-16