Incidental Mutation 'R9124:Imp4'
ID 693059
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 # R9124 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 34478558-34484828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34479128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 4 (R4W)
Ref Sequence ENSEMBL: ENSMUSP00000027303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027303] [ENSMUST00000042493] [ENSMUST00000136770] [ENSMUST00000137794] [ENSMUST00000149962]
AlphaFold Q8VHZ7
Predicted Effect unknown
Transcript: ENSMUST00000027303
AA Change: R4W
SMART Domains Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127
AA Change: R4W

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 unknown
Transcript: ENSMUST00000136770
AA Change: R3W
SMART Domains Protein: ENSMUSP00000120823
Gene: ENSMUSG00000026127
AA Change: R3W

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 unknown
Transcript: ENSMUST00000137794
AA Change: R4W
SMART Domains Protein: ENSMUSP00000121452
Gene: ENSMUSG00000026127
AA Change: R4W

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Blast:Brix 26 91 4e-16 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000149962
AA Change: R4W
SMART Domains Protein: ENSMUSP00000141982
Gene: ENSMUSG00000026127
AA Change: R4W

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Blast:Brix 26 91 4e-16 BLAST
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (91/91)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,792,679 (GRCm39) N89K possibly damaging Het
Abca5 A T 11: 110,189,005 (GRCm39) D817E possibly damaging Het
Abca8b G A 11: 109,828,593 (GRCm39) S1435F probably damaging Het
Akap9 T C 5: 4,111,284 (GRCm39) L3115P probably damaging Het
Arhgap39 G A 15: 76,619,467 (GRCm39) R706W probably damaging Het
Atp5mk T C 19: 47,074,578 (GRCm39) M28V probably benign Het
BC061237 A T 14: 44,740,851 (GRCm39) I84F possibly damaging Het
Bhlhe22 T C 3: 18,109,342 (GRCm39) S131P probably damaging Het
Brinp1 C A 4: 68,747,582 (GRCm39) D174Y probably damaging Het
Bsdc1 A G 4: 129,359,068 (GRCm39) T40A probably benign Het
Ccdc65 A T 15: 98,618,863 (GRCm39) K281* probably null Het
Cd22 T C 7: 30,572,662 (GRCm39) I316V probably benign Het
Cdhr18 A G 14: 13,864,354 (GRCm38) F324S Het
Cfap100 A C 6: 90,386,330 (GRCm39) I275S Het
Chd3 T G 11: 69,260,162 (GRCm39) E19A unknown Het
Chrnb1 T C 11: 69,685,057 (GRCm39) D91G probably benign Het
Cr1l A G 1: 194,799,925 (GRCm39) S250P possibly damaging Het
Csmd1 A G 8: 16,034,806 (GRCm39) V2455A probably damaging Het
Dbp C T 7: 45,357,818 (GRCm39) R229C probably damaging Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnah6 C A 6: 73,098,882 (GRCm39) V2058F possibly damaging Het
Dsp T A 13: 38,377,276 (GRCm39) V1687D probably benign Het
Dtd1 T A 2: 144,445,798 (GRCm39) M45K possibly damaging Het
Fat1 T A 8: 45,403,363 (GRCm39) F38Y probably benign Het
Fat1 T A 8: 45,478,064 (GRCm39) V2370E possibly damaging Het
Fgfr1 T A 8: 26,060,185 (GRCm39) D438E probably damaging Het
Fsip2 A T 2: 82,816,103 (GRCm39) K3945N probably benign Het
Galc C A 12: 98,220,423 (GRCm39) probably null Het
Git1 C A 11: 77,395,498 (GRCm39) D398E possibly damaging Het
Gm4924 A G 10: 82,214,875 (GRCm39) Q891R unknown Het
Gpc2 T C 5: 138,274,784 (GRCm39) probably benign Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Herc2 A G 7: 55,834,056 (GRCm39) N3087S probably damaging Het
Ifi204 C T 1: 173,579,193 (GRCm39) probably null Het
Itfg2 A G 6: 128,401,770 (GRCm39) S3P probably damaging Het
Kcnn3 C T 3: 89,428,536 (GRCm39) T254I possibly damaging Het
Kics2 C T 10: 121,586,416 (GRCm39) Q244* probably null Het
Kpna1 A G 16: 35,853,644 (GRCm39) I425V probably benign Het
Krt23 A T 11: 99,383,755 (GRCm39) S46T probably damaging Het
Loxl4 C A 19: 42,596,099 (GRCm39) W118L probably damaging Het
Lrrc37 T C 11: 103,509,721 (GRCm39) Y749C unknown Het
Lysmd2 T A 9: 75,533,075 (GRCm39) L10Q probably damaging Het
Mcm5 T A 8: 75,851,418 (GRCm39) probably benign Het
Mctp2 T A 7: 71,909,178 (GRCm39) D45V probably damaging Het
Mdfic2 T A 6: 98,318,899 (GRCm39) N22I possibly damaging Het
Mfsd10 T C 5: 34,791,940 (GRCm39) T341A probably benign Het
Micu1 T A 10: 59,586,335 (GRCm39) L170Q probably damaging Het
Msantd5 T C 11: 51,125,481 (GRCm39) S135P probably benign Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Myo15a A T 11: 60,369,952 (GRCm39) Q904L probably benign Het
Myo6 G A 9: 80,195,353 (GRCm39) D908N unknown Het
Nlrp4e A T 7: 23,020,403 (GRCm39) M297L probably benign Het
Nptn A G 9: 58,558,498 (GRCm39) probably benign Het
Oas3 A C 5: 120,912,170 (GRCm39) D73E probably damaging Het
Or12j5 T A 7: 140,084,222 (GRCm39) H50L probably benign Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or6n1 T C 1: 173,917,341 (GRCm39) L245P probably damaging Het
Pck1 C G 2: 172,997,018 (GRCm39) A220G probably benign Het
Pigq G A 17: 26,156,233 (GRCm39) T65I probably damaging Het
Pld2 T C 11: 70,431,696 (GRCm39) F9L probably damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Pnkd A G 1: 74,386,602 (GRCm39) R138G possibly damaging Het
Ralgapa1 A T 12: 55,781,881 (GRCm39) I781N probably damaging Het
Ranbp2 A G 10: 58,328,719 (GRCm39) I2873V probably benign Het
Rpn2 C A 2: 157,139,458 (GRCm39) Q283K probably benign Het
Shmt2 A G 10: 127,355,561 (GRCm39) S178P possibly damaging Het
Shroom3 A G 5: 93,112,401 (GRCm39) K1921E probably benign Het
Slc20a1 A G 2: 129,051,142 (GRCm39) S600G probably damaging Het
Slco1a7 A G 6: 141,668,830 (GRCm39) V534A possibly damaging Het
Slit1 C T 19: 41,594,951 (GRCm39) V1140I probably benign Het
Sncg T C 14: 34,095,640 (GRCm39) S51G possibly damaging Het
Spon2 C A 5: 33,372,935 (GRCm39) D256Y possibly damaging Het
Srcap G T 7: 127,159,874 (GRCm39) R3250L unknown Het
Sun1 T G 5: 139,231,121 (GRCm39) Y763* probably null Het
Synj1 A T 16: 90,735,513 (GRCm39) F1480Y probably benign Het
Tbc1d30 T A 10: 121,132,716 (GRCm39) N216I probably damaging Het
Tent2 A T 13: 93,284,160 (GRCm39) L465* probably null Het
Tgfb1 A T 7: 25,388,580 (GRCm39) K39* probably null Het
Tmem87a A G 2: 120,224,841 (GRCm39) probably null Het
Tmem8b C A 4: 43,681,982 (GRCm39) R452S probably benign Het
Tnfsf13b A G 8: 10,056,966 (GRCm39) I42V probably benign Het
Trpc2 A G 7: 101,745,090 (GRCm39) T769A possibly damaging Het
Ttc3 A G 16: 94,236,389 (GRCm39) T1033A probably benign Het
Ttll13 C T 7: 79,906,751 (GRCm39) A473V probably damaging Het
U2surp G A 9: 95,346,468 (GRCm39) R908* probably null Het
Ube2s A G 7: 4,814,510 (GRCm39) Y17H probably damaging Het
Vmn1r94 A T 7: 19,901,509 (GRCm39) M265K probably benign Het
Vmn2r23 T C 6: 123,719,038 (GRCm39) I797T possibly damaging Het
Yipf3 A T 17: 46,559,895 (GRCm39) E70D probably benign Het
Zcchc14 G A 8: 122,331,969 (GRCm39) P465S unknown Het
Zfp169 T C 13: 48,644,557 (GRCm39) E190G unknown Het
Zfp707 T C 15: 75,845,468 (GRCm39) S111P Het
Zfp738 T C 13: 67,819,457 (GRCm39) E178G possibly damaging Het
Zfr A T 15: 12,136,757 (GRCm39) N138I unknown Het
Other mutations in Imp4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATCGAGTGAAGCCTCTAAAGG -3'
(R):5'- AAATGCGTTTACACCTCCGTG -3'

Sequencing Primer
(F):5'- CGGAAGTGATCACTGCGTG -3'
(R):5'- ACCTCCGTGTAGTATGCTCGAG -3'
Posted On 2022-01-20