Mutagenetix > Incidental Mutation

Incidental Mutation 'R8422:Imp4'

653230

Institutional Source

Beutler Lab

Gene Symbol

Imp4

Ensembl Gene

ENSMUSG00000026127

Gene Name

IMP4, U3 small nucleolar ribonucleoprotein

Synonyms

MMRRC Submission

067817-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R8422 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34478558-34484828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34482997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 196 (G196V)

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: G196V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127
AA Change: G196V

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,384,254 (GRCm39)	S570R	possibly damaging	Het
4921517D22Rik	T	C	13: 59,839,443 (GRCm39)	M1V	probably null	Het
4921524J17Rik	T	G	8: 86,138,918 (GRCm39)	K57T	possibly damaging	Het
4930596D02Rik	G	T	14: 35,532,009 (GRCm39)	Q189K	probably benign	Het
Anapc1	T	C	2: 128,517,757 (GRCm39)	T296A	probably benign	Het
Aqp7	T	A	4: 41,035,622 (GRCm39)	M78L	probably benign	Het
C1qtnf5	C	A	9: 44,019,961 (GRCm39)	A195E	possibly damaging	Het
Calhm2	T	C	19: 47,121,579 (GRCm39)	I197V	probably benign	Het
Ccdc186	G	A	19: 56,801,617 (GRCm39)	L167F	probably benign	Het
Ccr3	T	C	9: 123,828,799 (GRCm39)	Y45H	probably damaging	Het
Cct3	G	C	3: 88,208,126 (GRCm39)	R38P	probably damaging	Het
Clstn2	T	C	9: 97,340,239 (GRCm39)	D711G	probably benign	Het
Dab2ip	T	A	2: 35,597,767 (GRCm39)	I157N	probably damaging	Het
Dchs2	T	C	3: 83,232,570 (GRCm39)	V2185A	probably benign	Het
Dis3l2	A	G	1: 86,782,099 (GRCm39)	T219A	probably benign	Het
F2rl3	G	T	8: 73,489,813 (GRCm39)	V347L	probably benign	Het
Fastkd1	A	G	2: 69,532,778 (GRCm39)	S530P	probably damaging	Het
Fgfr3	T	A	5: 33,892,249 (GRCm39)	Y689*	probably null	Het
Gm10521	A	G	1: 171,724,026 (GRCm39)	I112M	unknown	Het
Gm9736	C	A	10: 77,586,714 (GRCm39)	V159F	unknown	Het
Hba-x	A	T	11: 32,227,736 (GRCm39)	H88L	probably benign	Het
Il12rb2	A	T	6: 67,337,800 (GRCm39)	V27E	probably benign	Het
Itga11	A	C	9: 62,674,960 (GRCm39)	I831L	probably benign	Het
Macf1	C	T	4: 123,303,279 (GRCm39)	V408I	possibly damaging	Het
Nedd4	T	A	9: 72,649,964 (GRCm39)	D771E	probably damaging	Het
Noc3l	T	C	19: 38,795,547 (GRCm39)	Y413C	probably benign	Het
Npas3	C	A	12: 54,115,292 (GRCm39)	T738K	probably benign	Het
Ntrk2	A	T	13: 59,133,715 (GRCm39)	D498V	probably damaging	Het
Nyap1	T	C	5: 137,734,083 (GRCm39)	T317A	probably benign	Het
Or10g7	T	C	9: 39,905,850 (GRCm39)	L248P	probably damaging	Het
Or14a256	T	A	7: 86,265,466 (GRCm39)	H129L	probably benign	Het
Or4c107	T	C	2: 88,789,341 (GRCm39)	M177T	probably benign	Het
Or5d47	T	A	2: 87,804,143 (GRCm39)	I289L	probably benign	Het
Pcdhb20	A	T	18: 37,637,849 (GRCm39)	D125V	probably damaging	Het
Phc3	G	A	3: 30,984,039 (GRCm39)	Q692*	probably null	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Ppp1r12a	T	A	10: 108,077,042 (GRCm39)	H339Q	probably benign	Het
Ppp1r3a	G	A	6: 14,718,434 (GRCm39)	Q827*	probably null	Het
Ptpra	T	A	2: 130,374,091 (GRCm39)	I265N	possibly damaging	Het
Rabggta	G	T	14: 55,955,915 (GRCm39)	H447Q	probably benign	Het
Ralgps1	T	C	2: 33,062,442 (GRCm39)	D277G	possibly damaging	Het
Riok3	A	T	18: 12,269,869 (GRCm39)	E100V	probably null	Het
Rtcb	C	T	10: 85,779,168 (GRCm39)	V362M	probably benign	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Slco6c1	T	C	1: 97,053,508 (GRCm39)	E131G	probably damaging	Het
Tanc2	A	G	11: 105,726,014 (GRCm39)	M393V	probably benign	Het
Tas2r136	A	T	6: 132,754,290 (GRCm39)	I279N	probably damaging	Het
Tbx3	G	T	5: 119,818,581 (GRCm39)	K405N	possibly damaging	Het
Thumpd2	A	T	17: 81,334,373 (GRCm39)	V405D	probably damaging	Het
Tlr12	A	G	4: 128,510,427 (GRCm39)	S608P	probably damaging	Het
Wfs1	T	C	5: 37,131,219 (GRCm39)	K165E	probably benign	Het
Zfp810	C	A	9: 22,194,518 (GRCm39)	E57*	probably null	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
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

PCR Primer
(F):5'- AGAGTGTCTGACAGCCTCTC -3'
(R):5'- TAGCTGAGGAACTACAAAGGTCAC -3'

Sequencing Primer
(F):5'- GACAGCCTCTCCCCTACAGTG -3'
(R):5'- GACCCACCGGAATGAAATGTAGTC -3'

Posted On

2020-10-20