Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:Imp4'

480540

Institutional Source

Beutler Lab

Gene Symbol

Imp4

Ensembl Gene

ENSMUSG00000026127

Gene Name

IMP4, U3 small nucleolar ribonucleoprotein

Synonyms

MMRRC Submission

044206-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34478558-34484828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34482537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000120823 (fasta)

Gene Model

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

AlphaFold

Q8VHZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027303
AA Change: D92G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127
AA Change: D92G

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 damaging
Transcript: ENSMUST00000136770
AA Change: D91G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120823
Gene: ENSMUSG00000026127
AA Change: D91G

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: ENSMUST00000191000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188583

Meta Mutation Damage Score

0.4928

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.4%
20x: 87.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Kcnip4	G	T	5: 48,548,283 (GRCm39)	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,245,133 (GRCm39)	L259P	probably benign	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,163,187 (GRCm39)	T339S	probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,702 (GRCm39)	Y123F	probably damaging	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
Slc22a15	A	G	3: 101,770,235 (GRCm39)	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,789,982 (GRCm39)	S339T	probably benign	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Tc2n	A	T	12: 101,617,460 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	probably damaging	Het

Other mutations in Imp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01948:Imp4	APN	1	34,483,356 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

Posted On

2017-06-26