Incidental Mutation 'IGL02039:Imp4'
ID 184666
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 # IGL02039
Quality Score
Status
Chromosome 1
Chromosomal Location 34478558-34484828 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to A at 34482849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027303] [ENSMUST00000042493] [ENSMUST00000136770] [ENSMUST00000137794] [ENSMUST00000149962]
AlphaFold Q8VHZ7
Predicted Effect probably null
Transcript: ENSMUST00000027303
SMART Domains Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000187077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191000
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,193 (GRCm39) Y2313* probably null Het
Arhgef12 A G 9: 42,883,563 (GRCm39) I1323T probably benign Het
C87436 A G 6: 86,430,677 (GRCm39) M366V probably benign Het
Cep290 T C 10: 100,350,464 (GRCm39) probably null Het
Cpsf3 T C 12: 21,351,457 (GRCm39) M326T probably damaging Het
Cpxm2 A G 7: 131,649,482 (GRCm39) V64A probably damaging Het
Csnka2ip G A 16: 64,298,957 (GRCm39) S25F probably damaging Het
Cyfip1 T C 7: 55,524,769 (GRCm39) F168L possibly damaging Het
Dhx8 T C 11: 101,654,853 (GRCm39) probably null Het
Dnah2 T A 11: 69,390,038 (GRCm39) I736F probably damaging Het
Erf T C 7: 24,943,969 (GRCm39) E454G possibly damaging Het
Flnc T C 6: 29,450,718 (GRCm39) V1482A probably benign Het
Fmn1 T C 2: 113,195,425 (GRCm39) L375P unknown Het
Foxm1 T C 6: 128,346,323 (GRCm39) Y85H probably damaging Het
Frem3 A G 8: 81,339,600 (GRCm39) E631G probably damaging Het
Fsip1 T C 2: 118,070,895 (GRCm39) D265G probably damaging Het
Gprc5c C T 11: 114,755,312 (GRCm39) Q330* probably null Het
Grin1 C T 2: 25,195,354 (GRCm39) V246M probably damaging Het
Ifitm3 C A 7: 140,590,563 (GRCm39) probably benign Het
Igdcc3 G A 9: 65,091,162 (GRCm39) V648I probably benign Het
Ighv5-2 A G 12: 113,542,214 (GRCm39) I87T probably benign Het
Ino80 T C 2: 119,210,554 (GRCm39) N1327D probably damaging Het
Kif5a T C 10: 127,069,736 (GRCm39) I830V possibly damaging Het
Muc5b A G 7: 141,424,901 (GRCm39) Y4696C possibly damaging Het
Nrl T C 14: 55,759,567 (GRCm39) E120G probably benign Het
Nsmaf T A 4: 6,424,995 (GRCm39) probably benign Het
Nup35 T C 2: 80,473,119 (GRCm39) M64T probably benign Het
Nxpe2 T A 9: 48,230,959 (GRCm39) N470I probably benign Het
Oga A T 19: 45,762,142 (GRCm39) V237E probably damaging Het
Or12d17 T A 17: 37,777,340 (GRCm39) I81N possibly damaging Het
Or9i1 C T 19: 13,840,083 (GRCm39) Q309* probably null Het
Os9 G A 10: 126,932,160 (GRCm39) P604S possibly damaging Het
Pitpnm1 A G 19: 4,155,032 (GRCm39) T287A probably benign Het
Pkd2l2 G T 18: 34,568,421 (GRCm39) probably null Het
Pola2 A T 19: 5,998,497 (GRCm39) I355N probably damaging Het
Pp2d1 T A 17: 53,823,022 (GRCm39) R15* probably null Het
Prpf40a T C 2: 53,034,815 (GRCm39) D749G probably damaging Het
Rhoh T C 5: 66,049,981 (GRCm39) S84P probably damaging Het
Slc12a7 T C 13: 73,957,213 (GRCm39) probably null Het
Slc37a2 A G 9: 37,144,980 (GRCm39) I454T probably damaging Het
Smarca2 A G 19: 26,693,537 (GRCm39) D28G probably damaging Het
Socs4 T C 14: 47,527,650 (GRCm39) I195T probably benign Het
Svep1 A G 4: 58,123,980 (GRCm39) probably null Het
Thbd T C 2: 148,248,462 (GRCm39) T469A probably benign Het
Thoc5 T C 11: 4,872,027 (GRCm39) probably null Het
Vmn1r173 G T 7: 23,402,321 (GRCm39) M185I probably benign Het
Vmn1r59 T C 7: 5,457,380 (GRCm39) S127G probably benign Het
Vmn2r6 T C 3: 64,463,610 (GRCm39) E408G probably damaging Het
Yars1 A T 4: 129,109,052 (GRCm39) I428F probably damaging Het
Zglp1 T C 9: 20,978,335 (GRCm39) E14G possibly damaging Het
Other mutations in Imp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01948:Imp4 APN 1 34,483,356 (GRCm39) splice site probably benign
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