Incidental Mutation 'R5038:Imp4'
ID393084
Institutional Source Beutler Lab
Gene Symbol Imp4
Ensembl Gene ENSMUSG00000026127
Gene NameIMP4, U3 small nucleolar ribonucleoprotein
Synonyms
MMRRC Submission 042628-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #R5038 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location34439851-34449356 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34442935 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 45 (L45F)
Ref Sequence ENSEMBL: ENSMUSP00000120823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027303] [ENSMUST00000042493] [ENSMUST00000136770] [ENSMUST00000137794] [ENSMUST00000149962]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027303
AA Change: L46F

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127
AA Change: L46F

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 damaging
Transcript: ENSMUST00000136770
AA Change: L45F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120823
Gene: ENSMUSG00000026127
AA Change: L45F

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 possibly damaging
Transcript: ENSMUST00000137794
AA Change: L46F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121452
Gene: ENSMUSG00000026127
AA Change: L46F

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Blast:Brix 26 91 4e-16 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000149962
AA Change: L46F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141982
Gene: ENSMUSG00000026127
AA Change: L46F

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Blast:Brix 26 91 4e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191315
Meta Mutation Damage Score 0.208 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 94% (64/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A T 11: 11,589,375 probably null Het
Abtb2 G T 2: 103,567,063 G113C probably damaging Het
Acsm5 A G 7: 119,534,811 T272A probably damaging Het
Adprhl2 C T 4: 126,317,309 E272K possibly damaging Het
Agbl5 G A 5: 30,903,059 R141Q probably damaging Het
Atp7b A C 8: 22,028,456 I122S possibly damaging Het
B230219D22Rik T C 13: 55,699,475 Y134H probably damaging Het
Bnc1 A G 7: 81,968,714 S868P probably damaging Het
Camta1 T C 4: 151,145,469 E302G probably damaging Het
Car1 A G 3: 14,770,873 Y129H probably damaging Het
Cdh22 T C 2: 165,142,277 T352A probably benign Het
Ckmt2 T C 13: 91,861,163 E215G probably benign Het
Cyb5r4 T G 9: 87,059,077 probably null Het
Dhrs13 A G 11: 78,032,430 probably benign Het
Dsg1c G A 18: 20,264,844 A34T probably benign Het
Epb41l1 T C 2: 156,521,410 V613A probably benign Het
Fam114a1 A G 5: 65,009,045 M240V probably damaging Het
Gm15455 T C 1: 33,838,176 noncoding transcript Het
Herc1 T G 9: 66,476,460 probably benign Het
Ifna11 T C 4: 88,820,077 V40A probably benign Het
Ifna15 T C 4: 88,558,029 N73D probably benign Het
Jak3 G A 8: 71,686,058 A967T probably damaging Het
Krtap19-2 A T 16: 88,874,028 Y76* probably null Het
Map4k5 A T 12: 69,824,614 N492K probably damaging Het
Mycbp2 C T 14: 103,296,939 R372H probably damaging Het
Nos2 G A 11: 78,922,314 S16N probably benign Het
Nr2c2 A G 6: 92,139,822 T2A probably damaging Het
Nup188 T C 2: 30,309,220 Y267H probably damaging Het
Nxph2 G A 2: 23,321,544 probably null Het
Olfr1446 T A 19: 12,890,406 H57L probably damaging Het
Olfr1461 T A 19: 13,165,591 D192E probably benign Het
Olfr1505 T A 19: 13,919,458 V146E possibly damaging Het
Otof C T 5: 30,384,439 E761K possibly damaging Het
Pik3r1 C T 13: 101,689,444 R37Q probably damaging Het
Pkn3 T C 2: 30,085,281 probably null Het
Pold3 A G 7: 100,121,383 V14A probably damaging Het
Ptpn14 T C 1: 189,786,886 S38P probably damaging Het
Raf1 G A 6: 115,620,235 Q35* probably null Het
Rps3a1 C A 3: 86,138,031 E251D probably benign Het
Scd1 C T 19: 44,401,709 V207M probably damaging Het
Shq1 A G 6: 100,630,993 V319A probably benign Het
Slc4a8 T C 15: 100,795,821 Y416H probably damaging Het
Slco1a5 T C 6: 142,262,637 T143A probably benign Het
Slco1a5 C T 6: 142,266,364 G90D probably damaging Het
Snx9 T C 17: 5,887,073 V30A probably benign Het
Spdya T C 17: 71,588,566 probably benign Het
Stat1 A T 1: 52,123,209 N75I probably damaging Het
Sv2b A T 7: 75,157,425 M159K probably damaging Het
Tdh A T 14: 63,496,126 Y89* probably null Het
Tmc7 A G 7: 118,543,365 F600S probably damaging Het
Trpa1 T A 1: 14,910,866 H104L probably damaging Het
Ttn G A 2: 76,848,640 probably benign Het
Vmn1r113 A G 7: 20,787,494 I70M possibly damaging Het
Vmn1r171 A G 7: 23,632,763 M138V probably benign Het
Zfc3h1 G A 10: 115,404,211 V550I probably benign Het
Zfp335 G T 2: 164,910,644 S60* probably null Het
Zfp7 T C 15: 76,891,810 M684T probably benign Het
Zfp984 T A 4: 147,755,446 H316L probably damaging Het
Zmym2 T A 14: 56,956,180 Y1151N possibly damaging Het
Other mutations in Imp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01948:Imp4 APN 1 34444275 splice site probably benign
IGL02039:Imp4 APN 1 34443768 critical splice acceptor site probably null
IGL02483:Imp4 APN 1 34444275 splice site probably null
IGL02799:Imp4 UTSW 1 34440177 intron probably benign
R2265:Imp4 UTSW 1 34443847 missense probably damaging 1.00
R6034:Imp4 UTSW 1 34443456 missense probably damaging 1.00
R6034:Imp4 UTSW 1 34443456 missense probably damaging 1.00
R6145:Imp4 UTSW 1 34440096 missense probably benign 0.06
R6696:Imp4 UTSW 1 34444246 missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TGTTAGCGACACACTCAGCAG -3'
(R):5'- ACTGCTCACCTGGACACTTC -3'

Sequencing Primer
(F):5'- ATGGGCCTCTCAAGACCATTG -3'
(R):5'- CCATCAGGTGGGAAATTGTCC -3'
Posted On2016-06-15