Mutagenetix > Incidental Mutation

Incidental Mutation 'R9782:Imp4'

734090

Institutional Source

Beutler Lab

Gene Symbol

Imp4

Ensembl Gene

ENSMUSG00000026127

Gene Name

IMP4, U3 small nucleolar ribonucleoprotein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R9782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34478558-34484828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34482901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 164 (L164Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027303 (fasta)

Gene Model

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

AlphaFold

Q8VHZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027303
AA Change: L164Q

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

SMART Domains

Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127
AA Change: L164Q

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,053,796 (GRCm39)	M1K	probably null	Het
Atoh8	A	T	6: 72,200,848 (GRCm39)	L281M	possibly damaging	Het
Bckdha	A	G	7: 25,340,880 (GRCm39)		probably null	Het
Chil6	A	T	3: 106,296,121 (GRCm39)	Y371*	probably null	Het
Cilk1	A	T	9: 78,048,520 (GRCm39)	Q108L	probably damaging	Het
Fbxw18	G	T	9: 109,522,376 (GRCm39)	H164Q	probably benign	Het
Gucd1	T	G	10: 75,345,650 (GRCm39)	D135A	probably benign	Het
Hacd1	A	G	2: 14,040,751 (GRCm39)	I168T	possibly damaging	Het
Hfm1	T	C	5: 107,021,896 (GRCm39)	E1013G	probably benign	Het
Hsf4	G	A	8: 105,999,217 (GRCm39)		probably null	Het
Ift140	G	T	17: 25,264,151 (GRCm39)		probably null	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Jazf1	C	T	6: 52,747,311 (GRCm39)	V204I	probably benign	Het
Kmt2d	T	A	15: 98,764,597 (GRCm39)	D2V	probably damaging	Het
Knl1	T	C	2: 118,899,910 (GRCm39)	V537A	probably benign	Het
Mep1b	A	T	18: 21,208,720 (GRCm39)	D32V	possibly damaging	Het
Mki67	A	G	7: 135,306,066 (GRCm39)		probably null	Het
Morn3	C	T	5: 123,175,822 (GRCm39)	V189M	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Mtmr2	T	C	9: 13,713,293 (GRCm39)	M490T	probably benign	Het
Muc16	T	C	9: 18,548,066 (GRCm39)	T6076A	possibly damaging	Het
Myo1c	A	G	11: 75,549,273 (GRCm39)	E113G	probably damaging	Het
Nat8f4	A	T	6: 85,878,052 (GRCm39)	V157D	probably damaging	Het
Nectin4	T	C	1: 171,214,192 (GRCm39)	V449A	probably damaging	Het
Ogdhl	C	T	14: 32,061,909 (GRCm39)	T528M	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	G	A	2: 88,356,835 (GRCm39)	V303M	probably benign	Het
Or52l1	A	G	7: 104,830,067 (GRCm39)	V166A	probably damaging	Het
Pcdhb12	AT	A	18: 37,570,393 (GRCm39)		probably null	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pkn2	A	C	3: 142,516,237 (GRCm39)	V562G	possibly damaging	Het
Plxna1	C	A	6: 89,333,817 (GRCm39)	A271S	probably benign	Het
Ppp1r3a	C	T	6: 14,718,766 (GRCm39)	S716N	probably damaging	Het
Prss12	G	A	3: 123,271,762 (GRCm39)	G256S	probably benign	Het
Psg28	A	T	7: 18,164,331 (GRCm39)	M127K	probably benign	Het
Psmf1	T	C	2: 151,577,533 (GRCm39)	D48G	possibly damaging	Het
Rabggta	T	A	14: 55,955,944 (GRCm39)	M438L	possibly damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rbck1	T	C	2: 152,165,113 (GRCm39)	E297G	probably damaging	Het
Rras	A	T	7: 44,669,945 (GRCm39)	I126F	probably damaging	Het
Slc22a28	T	C	19: 8,041,813 (GRCm39)	R465G	probably null	Het
Slc28a2b	T	A	2: 122,352,338 (GRCm39)	I365N	probably damaging	Het
Snx19	A	G	9: 30,340,172 (GRCm39)	T437A	probably benign	Het
Son	A	T	16: 91,444,838 (GRCm39)	S15C	probably damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Sptbn4	G	T	7: 27,107,993 (GRCm39)	Q810K	probably benign	Het
Tmtc2	T	C	10: 105,026,062 (GRCm39)	Y802C	probably damaging	Het
Trrap	T	A	5: 144,758,716 (GRCm39)	M2181K	probably damaging	Het
Ttc23l	A	G	15: 10,530,767 (GRCm39)	S282P	probably damaging	Het
Zbtb7a	G	A	10: 80,979,910 (GRCm39)	D35N	probably damaging	Het
Zc3h3	C	A	15: 75,681,489 (GRCm39)	V531L	probably damaging	Het
Zfhx4	A	G	3: 5,466,514 (GRCm39)	D2249G	probably benign	Het
Zfp87	T	C	13: 74,520,932 (GRCm39)	K49E	probably benign	Het
Zfp942	T	C	17: 22,147,463 (GRCm39)	T389A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CATGAGGTTGGAGCACTAGTG -3'
(R):5'- AACGAAGGATGTCCGACACC -3'

Sequencing Primer
(F):5'- TTGCAAAGCCAACGGGGTC -3'
(R):5'- ATGTCCGACACCTGGGGAC -3'

Posted On

2022-11-14