Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Imp4'

180995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Imp4

Ensembl Gene

ENSMUSG00000026127

Gene Name

IMP4, U3 small nucleolar ribonucleoprotein

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL01948

Quality Score

Status

Chromosome

Chromosomal Location

34478558-34484828 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 34483356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027303] [ENSMUST00000027303] [ENSMUST00000042493] [ENSMUST00000136770] [ENSMUST00000137794] [ENSMUST00000149962]

AlphaFold

Q8VHZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000027303

SMART Domains

Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Blast:Brix	22	71	3e-13	BLAST
Brix	86	258	2.37e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000027303

SMART Domains

Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Blast:Brix	22	71	3e-13	BLAST
Brix	86	258	2.37e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042493

SMART Domains

Protein: ENSMUSP00000042918
Gene: ENSMUSG00000042111

Domain	Start	End	E-Value	Type
coiled coil region	3	38	N/A	INTRINSIC
coiled coil region	154	175	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134327

Predicted Effect

probably benign
Transcript: ENSMUST00000136770

SMART Domains

Protein: ENSMUSP00000120823
Gene: ENSMUSG00000026127

Domain	Start	End	E-Value	Type
low complexity region	1	20	N/A	INTRINSIC
Blast:Brix	25	70	3e-14	BLAST
Pfam:Brix	86	147	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137794

SMART Domains

Protein: ENSMUSP00000121452
Gene: ENSMUSG00000026127

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Blast:Brix	26	91	4e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149962

SMART Domains

Protein: ENSMUSP00000141982
Gene: ENSMUSG00000026127

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Blast:Brix	26	91	4e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187077

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Ccdc81	T	C	7: 89,525,063 (GRCm39)	D506G	possibly damaging	Het
Fam186b	T	C	15: 99,178,327 (GRCm39)	H333R	probably benign	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm10717	A	T	9: 3,025,819 (GRCm39)	T135S	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Gsdmc	T	C	15: 63,650,430 (GRCm39)	D308G	probably damaging	Het
Hook3	T	A	8: 26,549,340 (GRCm39)	E168V	possibly damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Ms4a5	A	C	19: 11,256,717 (GRCm39)	M60R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	Het

Other mutations in Imp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02039:Imp4	APN	1	34,482,849 (GRCm39)	critical splice acceptor site	probably null
IGL02483:Imp4	APN	1	34,483,356 (GRCm39)	splice site	probably null
IGL02799:Imp4	UTSW	1	34,479,258 (GRCm39)	intron	probably benign
R2265:Imp4	UTSW	1	34,482,928 (GRCm39)	missense	probably damaging	1.00
R5038:Imp4	UTSW	1	34,482,016 (GRCm39)	missense	probably damaging	1.00
R6034:Imp4	UTSW	1	34,482,537 (GRCm39)	missense	probably damaging	1.00
R6034:Imp4	UTSW	1	34,482,537 (GRCm39)	missense	probably damaging	1.00
R6145:Imp4	UTSW	1	34,479,177 (GRCm39)	missense	probably benign	0.06
R6696:Imp4	UTSW	1	34,483,327 (GRCm39)	missense	probably benign	0.44
R7936:Imp4	UTSW	1	34,482,114 (GRCm39)	missense	probably benign	0.31
R8422:Imp4	UTSW	1	34,482,997 (GRCm39)	missense	probably damaging	1.00
R8821:Imp4	UTSW	1	34,483,445 (GRCm39)	missense	probably benign	0.18
R8831:Imp4	UTSW	1	34,483,445 (GRCm39)	missense	probably benign	0.18
R9124:Imp4	UTSW	1	34,479,128 (GRCm39)	missense	unknown
R9147:Imp4	UTSW	1	34,482,473 (GRCm39)	missense	probably benign	0.00
R9527:Imp4	UTSW	1	34,481,991 (GRCm39)	missense	probably benign	0.01
R9782:Imp4	UTSW	1	34,482,901 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07