Incidental Mutation 'R0491:Utp20'
ID 42482
Institutional Source Beutler Lab
Gene Symbol Utp20
Ensembl Gene ENSMUSG00000004356
Gene Name UTP20 small subunit processome component
Synonyms DRIM, 3830408P06Rik, mDRIM
MMRRC Submission 038689-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0491 (G1)
Quality Score 139
Status Validated
Chromosome 10
Chromosomal Location 88582469-88662666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88596774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 2115 (F2115L)
Ref Sequence ENSEMBL: ENSMUSP00000004470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004470] [ENSMUST00000218967] [ENSMUST00000220188]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000004470
AA Change: F2115L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356
AA Change: F2115L

DomainStartEndE-ValueType
low complexity region 244 255 N/A INTRINSIC
low complexity region 442 454 N/A INTRINSIC
low complexity region 571 581 N/A INTRINSIC
low complexity region 695 704 N/A INTRINSIC
Pfam:DRIM 910 1534 2.6e-176 PFAM
low complexity region 1585 1598 N/A INTRINSIC
low complexity region 1705 1719 N/A INTRINSIC
low complexity region 2503 2513 N/A INTRINSIC
low complexity region 2589 2605 N/A INTRINSIC
low complexity region 2727 2737 N/A INTRINSIC
low complexity region 2746 2764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218967
Predicted Effect possibly damaging
Transcript: ENSMUST00000220188
AA Change: F187L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.2973 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,248,235 (GRCm39) F2661L probably benign Het
Acadsb A G 7: 131,031,836 (GRCm39) D224G probably benign Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts2 A G 11: 50,667,457 (GRCm39) D465G probably damaging Het
Akap9 A T 5: 4,022,851 (GRCm39) probably benign Het
Alms1 A G 6: 85,679,582 (GRCm39) T3240A probably damaging Het
Ap3d1 A G 10: 80,555,075 (GRCm39) W417R probably damaging Het
Arfgef1 C A 1: 10,250,212 (GRCm39) probably benign Het
Atf6 A G 1: 170,614,913 (GRCm39) probably null Het
Cacna1s T A 1: 136,016,746 (GRCm39) probably benign Het
Clcn1 T C 6: 42,287,515 (GRCm39) F740L probably benign Het
Clec12a T A 6: 129,341,016 (GRCm39) D265E probably benign Het
Clic3 T A 2: 25,347,797 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,909,859 (GRCm39) T749P probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Cplane1 T A 15: 8,211,727 (GRCm39) S356T probably damaging Het
Crxos T A 7: 15,632,460 (GRCm39) S89T probably benign Het
Cxcr1 G T 1: 74,231,468 (GRCm39) P185T possibly damaging Het
Cyp20a1 T A 1: 60,410,486 (GRCm39) N262K possibly damaging Het
Dennd2b T A 7: 109,156,411 (GRCm39) Q113L probably benign Het
Dpy19l2 T C 9: 24,607,324 (GRCm39) R46G probably benign Het
Dpysl2 A T 14: 67,045,411 (GRCm39) L454Q probably damaging Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Eppin T A 2: 164,431,332 (GRCm39) E98V possibly damaging Het
Fancm A T 12: 65,152,835 (GRCm39) H1097L probably benign Het
Fkbp4 A G 6: 128,412,705 (GRCm39) I75T probably damaging Het
Fmn2 A G 1: 174,409,525 (GRCm39) H586R unknown Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Haus6 A C 4: 86,521,083 (GRCm39) V185G possibly damaging Het
Herc2 T A 7: 55,772,114 (GRCm39) C1098S possibly damaging Het
Hic1 C A 11: 75,057,136 (GRCm39) L584F possibly damaging Het
Itgb1bp1 C A 12: 21,326,896 (GRCm39) probably benign Het
Kbtbd2 G A 6: 56,757,374 (GRCm39) R121* probably null Het
Lgr4 C T 2: 109,837,626 (GRCm39) probably benign Het
Lrrc55 T C 2: 85,022,264 (GRCm39) E309G probably damaging Het
Mertk T C 2: 128,635,027 (GRCm39) probably null Het
Micu3 A G 8: 40,819,294 (GRCm39) probably benign Het
Mmp11 G A 10: 75,762,592 (GRCm39) A287V probably benign Het
Mpzl2 A G 9: 44,954,039 (GRCm39) Y47C probably damaging Het
Muc5b A C 7: 141,415,752 (GRCm39) R2899S probably benign Het
Myo1b A G 1: 51,794,857 (GRCm39) Y1078H probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Ncapd3 T G 9: 26,969,179 (GRCm39) V611G probably damaging Het
Ntpcr C T 8: 126,464,093 (GRCm39) R73* probably null Het
Or4c120 A T 2: 89,000,704 (GRCm39) V284E probably benign Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Osbp2 A G 11: 3,664,709 (GRCm39) F88S probably damaging Het
Pkn3 A T 2: 29,979,889 (GRCm39) T711S probably damaging Het
Plekhm1 T C 11: 103,285,602 (GRCm39) K278E probably benign Het
Ppp1r36 A G 12: 76,486,065 (GRCm39) T408A probably benign Het
Prss41 T C 17: 24,061,477 (GRCm39) T105A possibly damaging Het
Psme1 G T 14: 55,817,378 (GRCm39) probably benign Het
Ptprq A T 10: 107,444,036 (GRCm39) Y1523N probably damaging Het
Ric8b A G 10: 84,828,086 (GRCm39) D470G probably damaging Het
Scarb1 A G 5: 125,375,795 (GRCm39) probably benign Het
Slc25a54 G A 3: 109,010,112 (GRCm39) A204T probably damaging Het
Spink10 T C 18: 62,793,036 (GRCm39) C67R probably damaging Het
Tmtc1 A T 6: 148,314,138 (GRCm39) probably null Het
Tprkb A G 6: 85,901,446 (GRCm39) D28G probably benign Het
Ttll13 A G 7: 79,910,098 (GRCm39) H747R probably benign Het
Usp24 A G 4: 106,259,302 (GRCm39) S1608G probably benign Het
Vmn1r200 A T 13: 22,579,361 (GRCm39) I46L probably benign Het
Zdhhc8 A T 16: 18,046,254 (GRCm39) M103K probably damaging Het
Zfp595 C T 13: 67,465,369 (GRCm39) G298E probably damaging Het
Zfp738 T G 13: 67,818,140 (GRCm39) H617P possibly damaging Het
Zfp9 A T 6: 118,442,163 (GRCm39) H166Q probably damaging Het
Zp3r C A 1: 130,546,071 (GRCm39) D80Y probably damaging Het
Other mutations in Utp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Utp20 APN 10 88,661,306 (GRCm39) missense possibly damaging 0.90
IGL00858:Utp20 APN 10 88,644,987 (GRCm39) missense possibly damaging 0.69
IGL00858:Utp20 APN 10 88,645,000 (GRCm39) missense probably benign
IGL00946:Utp20 APN 10 88,584,177 (GRCm39) missense possibly damaging 0.82
IGL01061:Utp20 APN 10 88,606,566 (GRCm39) missense probably benign 0.13
IGL01399:Utp20 APN 10 88,594,164 (GRCm39) critical splice donor site probably null
IGL01548:Utp20 APN 10 88,600,643 (GRCm39) missense probably damaging 1.00
IGL01587:Utp20 APN 10 88,623,397 (GRCm39) missense probably damaging 0.98
IGL01789:Utp20 APN 10 88,634,141 (GRCm39) critical splice donor site probably null
IGL01819:Utp20 APN 10 88,628,549 (GRCm39) missense probably damaging 1.00
IGL02070:Utp20 APN 10 88,657,739 (GRCm39) splice site probably benign
IGL02231:Utp20 APN 10 88,627,030 (GRCm39) missense probably damaging 1.00
IGL02244:Utp20 APN 10 88,651,818 (GRCm39) splice site probably benign
IGL02367:Utp20 APN 10 88,607,715 (GRCm39) unclassified probably benign
IGL02553:Utp20 APN 10 88,600,657 (GRCm39) missense probably damaging 0.99
IGL02748:Utp20 APN 10 88,653,157 (GRCm39) missense probably benign 0.00
IGL02831:Utp20 APN 10 88,651,770 (GRCm39) missense probably benign
IGL02986:Utp20 APN 10 88,611,147 (GRCm39) missense probably damaging 1.00
IGL02997:Utp20 APN 10 88,649,896 (GRCm39) missense probably benign
IGL03105:Utp20 APN 10 88,626,958 (GRCm39) missense probably benign 0.10
IGL03251:Utp20 APN 10 88,653,188 (GRCm39) critical splice acceptor site probably null
IGL03337:Utp20 APN 10 88,590,428 (GRCm39) missense probably benign
IGL03348:Utp20 APN 10 88,594,179 (GRCm39) missense probably benign 0.09
IGL03381:Utp20 APN 10 88,657,867 (GRCm39) missense probably damaging 0.99
Bell UTSW 10 88,628,487 (GRCm39) missense probably benign 0.29
elite UTSW 10 88,606,670 (GRCm39) missense probably benign
Margin UTSW 10 88,604,541 (GRCm39) missense probably benign 0.04
Percentile UTSW 10 88,611,180 (GRCm39) missense probably damaging 1.00
R0037:Utp20 UTSW 10 88,634,266 (GRCm39) missense probably benign 0.05
R0107:Utp20 UTSW 10 88,614,253 (GRCm39) missense probably benign 0.03
R0197:Utp20 UTSW 10 88,613,378 (GRCm39) missense probably benign 0.22
R0219:Utp20 UTSW 10 88,600,537 (GRCm39) missense probably damaging 1.00
R0315:Utp20 UTSW 10 88,643,283 (GRCm39) missense probably damaging 1.00
R0328:Utp20 UTSW 10 88,602,969 (GRCm39) missense possibly damaging 0.82
R0329:Utp20 UTSW 10 88,653,841 (GRCm39) missense probably benign 0.00
R0330:Utp20 UTSW 10 88,653,841 (GRCm39) missense probably benign 0.00
R0395:Utp20 UTSW 10 88,654,457 (GRCm39) missense probably damaging 1.00
R0399:Utp20 UTSW 10 88,656,841 (GRCm39) missense probably damaging 1.00
R0454:Utp20 UTSW 10 88,657,931 (GRCm39) missense probably benign 0.00
R0456:Utp20 UTSW 10 88,590,435 (GRCm39) missense possibly damaging 0.92
R0557:Utp20 UTSW 10 88,584,173 (GRCm39) missense probably damaging 0.99
R0600:Utp20 UTSW 10 88,603,323 (GRCm39) missense probably damaging 1.00
R0616:Utp20 UTSW 10 88,606,613 (GRCm39) missense probably benign 0.14
R1076:Utp20 UTSW 10 88,608,405 (GRCm39) missense possibly damaging 0.86
R1076:Utp20 UTSW 10 88,608,321 (GRCm39) missense probably benign 0.36
R1330:Utp20 UTSW 10 88,637,051 (GRCm39) missense probably damaging 0.96
R1440:Utp20 UTSW 10 88,655,201 (GRCm39) missense probably benign 0.19
R1529:Utp20 UTSW 10 88,588,868 (GRCm39) missense probably damaging 1.00
R1554:Utp20 UTSW 10 88,600,599 (GRCm39) nonsense probably null
R1621:Utp20 UTSW 10 88,598,733 (GRCm39) missense probably benign
R1641:Utp20 UTSW 10 88,593,834 (GRCm39) missense possibly damaging 0.82
R1709:Utp20 UTSW 10 88,585,159 (GRCm39) missense probably benign 0.29
R1734:Utp20 UTSW 10 88,603,323 (GRCm39) missense probably damaging 1.00
R1755:Utp20 UTSW 10 88,645,631 (GRCm39) missense probably benign 0.01
R1775:Utp20 UTSW 10 88,606,670 (GRCm39) missense probably benign
R1866:Utp20 UTSW 10 88,598,632 (GRCm39) nonsense probably null
R1867:Utp20 UTSW 10 88,585,305 (GRCm39) missense probably benign
R1901:Utp20 UTSW 10 88,588,888 (GRCm39) missense probably benign 0.02
R1902:Utp20 UTSW 10 88,588,888 (GRCm39) missense probably benign 0.02
R1967:Utp20 UTSW 10 88,652,841 (GRCm39) missense probably benign 0.03
R2060:Utp20 UTSW 10 88,610,657 (GRCm39) missense probably damaging 0.98
R2102:Utp20 UTSW 10 88,608,779 (GRCm39) missense probably damaging 0.99
R2110:Utp20 UTSW 10 88,603,313 (GRCm39) critical splice donor site probably null
R2115:Utp20 UTSW 10 88,621,865 (GRCm39) missense probably benign 0.02
R2128:Utp20 UTSW 10 88,649,917 (GRCm39) missense probably damaging 0.99
R2129:Utp20 UTSW 10 88,649,917 (GRCm39) missense probably damaging 0.99
R2180:Utp20 UTSW 10 88,656,801 (GRCm39) missense probably damaging 0.98
R2280:Utp20 UTSW 10 88,661,365 (GRCm39) splice site probably null
R2435:Utp20 UTSW 10 88,656,753 (GRCm39) missense possibly damaging 0.89
R2914:Utp20 UTSW 10 88,590,337 (GRCm39) critical splice donor site probably null
R3005:Utp20 UTSW 10 88,613,317 (GRCm39) missense probably damaging 0.97
R3546:Utp20 UTSW 10 88,618,551 (GRCm39) missense probably damaging 1.00
R3547:Utp20 UTSW 10 88,618,551 (GRCm39) missense probably damaging 1.00
R3622:Utp20 UTSW 10 88,593,855 (GRCm39) unclassified probably benign
R3737:Utp20 UTSW 10 88,598,668 (GRCm39) missense probably benign 0.00
R3738:Utp20 UTSW 10 88,598,668 (GRCm39) missense probably benign 0.00
R3841:Utp20 UTSW 10 88,611,065 (GRCm39) unclassified probably benign
R4034:Utp20 UTSW 10 88,598,668 (GRCm39) missense probably benign 0.00
R4035:Utp20 UTSW 10 88,598,668 (GRCm39) missense probably benign 0.00
R4157:Utp20 UTSW 10 88,597,729 (GRCm39) missense probably benign
R4243:Utp20 UTSW 10 88,643,187 (GRCm39) critical splice donor site probably null
R4295:Utp20 UTSW 10 88,590,381 (GRCm39) missense possibly damaging 0.54
R4632:Utp20 UTSW 10 88,614,123 (GRCm39) missense probably damaging 1.00
R4633:Utp20 UTSW 10 88,588,814 (GRCm39) missense probably benign
R4684:Utp20 UTSW 10 88,643,307 (GRCm39) nonsense probably null
R4731:Utp20 UTSW 10 88,590,382 (GRCm39) missense possibly damaging 0.93
R4735:Utp20 UTSW 10 88,652,780 (GRCm39) missense possibly damaging 0.91
R4772:Utp20 UTSW 10 88,645,797 (GRCm39) missense probably benign 0.09
R4912:Utp20 UTSW 10 88,607,822 (GRCm39) missense probably benign 0.01
R4974:Utp20 UTSW 10 88,652,811 (GRCm39) missense probably benign 0.08
R4991:Utp20 UTSW 10 88,582,796 (GRCm39) missense probably benign 0.09
R5004:Utp20 UTSW 10 88,584,135 (GRCm39) missense probably damaging 0.98
R5037:Utp20 UTSW 10 88,611,192 (GRCm39) missense probably benign 0.00
R5043:Utp20 UTSW 10 88,634,608 (GRCm39) missense possibly damaging 0.70
R5108:Utp20 UTSW 10 88,604,735 (GRCm39) missense probably benign 0.00
R5138:Utp20 UTSW 10 88,583,239 (GRCm39) missense probably damaging 0.96
R5252:Utp20 UTSW 10 88,586,532 (GRCm39) missense probably benign 0.01
R5394:Utp20 UTSW 10 88,608,777 (GRCm39) nonsense probably null
R5470:Utp20 UTSW 10 88,653,758 (GRCm39) missense probably benign 0.14
R5558:Utp20 UTSW 10 88,587,329 (GRCm39) missense probably damaging 1.00
R5678:Utp20 UTSW 10 88,644,979 (GRCm39) missense probably benign 0.00
R5822:Utp20 UTSW 10 88,653,147 (GRCm39) missense probably benign 0.00
R5866:Utp20 UTSW 10 88,608,421 (GRCm39) missense possibly damaging 0.82
R5924:Utp20 UTSW 10 88,651,784 (GRCm39) missense probably benign 0.00
R6026:Utp20 UTSW 10 88,604,541 (GRCm39) missense probably benign 0.04
R6363:Utp20 UTSW 10 88,592,942 (GRCm39) missense probably damaging 1.00
R6434:Utp20 UTSW 10 88,608,395 (GRCm39) nonsense probably null
R6477:Utp20 UTSW 10 88,604,780 (GRCm39) missense probably benign 0.05
R6480:Utp20 UTSW 10 88,591,048 (GRCm39) critical splice donor site probably null
R6989:Utp20 UTSW 10 88,614,102 (GRCm39) missense probably benign 0.00
R7033:Utp20 UTSW 10 88,590,337 (GRCm39) critical splice donor site probably null
R7192:Utp20 UTSW 10 88,608,321 (GRCm39) missense probably benign 0.09
R7236:Utp20 UTSW 10 88,585,204 (GRCm39) missense probably benign 0.28
R7260:Utp20 UTSW 10 88,587,334 (GRCm39) missense probably benign 0.39
R7296:Utp20 UTSW 10 88,606,586 (GRCm39) missense probably benign 0.21
R7317:Utp20 UTSW 10 88,598,797 (GRCm39) missense possibly damaging 0.83
R7318:Utp20 UTSW 10 88,649,811 (GRCm39) missense possibly damaging 0.89
R7330:Utp20 UTSW 10 88,623,424 (GRCm39) frame shift probably null
R7367:Utp20 UTSW 10 88,631,305 (GRCm39) missense probably benign 0.21
R7432:Utp20 UTSW 10 88,634,260 (GRCm39) missense probably benign 0.00
R7447:Utp20 UTSW 10 88,608,354 (GRCm39) missense probably damaging 1.00
R7473:Utp20 UTSW 10 88,656,572 (GRCm39) splice site probably null
R7520:Utp20 UTSW 10 88,654,457 (GRCm39) missense probably damaging 1.00
R7530:Utp20 UTSW 10 88,588,868 (GRCm39) missense probably damaging 1.00
R7539:Utp20 UTSW 10 88,627,607 (GRCm39) missense probably damaging 1.00
R7651:Utp20 UTSW 10 88,590,457 (GRCm39) missense probably benign 0.41
R7728:Utp20 UTSW 10 88,634,203 (GRCm39) missense probably damaging 1.00
R7831:Utp20 UTSW 10 88,598,632 (GRCm39) nonsense probably null
R7833:Utp20 UTSW 10 88,636,998 (GRCm39) missense possibly damaging 0.92
R7909:Utp20 UTSW 10 88,611,192 (GRCm39) missense probably benign
R7956:Utp20 UTSW 10 88,618,476 (GRCm39) missense probably benign 0.23
R7999:Utp20 UTSW 10 88,606,250 (GRCm39) missense probably benign
R8080:Utp20 UTSW 10 88,618,577 (GRCm39) missense possibly damaging 0.82
R8098:Utp20 UTSW 10 88,588,810 (GRCm39) missense probably benign 0.13
R8104:Utp20 UTSW 10 88,593,766 (GRCm39) missense probably damaging 1.00
R8129:Utp20 UTSW 10 88,628,487 (GRCm39) missense probably benign 0.29
R8147:Utp20 UTSW 10 88,594,306 (GRCm39) missense probably benign 0.02
R8199:Utp20 UTSW 10 88,634,337 (GRCm39) missense probably benign
R8222:Utp20 UTSW 10 88,614,234 (GRCm39) missense probably damaging 1.00
R8415:Utp20 UTSW 10 88,662,466 (GRCm39) critical splice donor site probably null
R8466:Utp20 UTSW 10 88,654,365 (GRCm39) missense probably damaging 1.00
R8505:Utp20 UTSW 10 88,653,870 (GRCm39) missense probably benign 0.03
R8774:Utp20 UTSW 10 88,588,763 (GRCm39) splice site probably benign
R8802:Utp20 UTSW 10 88,583,157 (GRCm39) missense probably damaging 1.00
R8923:Utp20 UTSW 10 88,627,604 (GRCm39) nonsense probably null
R8945:Utp20 UTSW 10 88,628,532 (GRCm39) nonsense probably null
R9065:Utp20 UTSW 10 88,592,972 (GRCm39) missense probably benign 0.32
R9092:Utp20 UTSW 10 88,611,180 (GRCm39) missense probably damaging 1.00
R9092:Utp20 UTSW 10 88,604,679 (GRCm39) missense probably benign
R9094:Utp20 UTSW 10 88,611,180 (GRCm39) missense probably damaging 1.00
R9095:Utp20 UTSW 10 88,611,180 (GRCm39) missense probably damaging 1.00
R9096:Utp20 UTSW 10 88,611,180 (GRCm39) missense probably damaging 1.00
R9229:Utp20 UTSW 10 88,594,239 (GRCm39) missense possibly damaging 0.86
R9323:Utp20 UTSW 10 88,583,170 (GRCm39) missense probably damaging 1.00
R9336:Utp20 UTSW 10 88,649,798 (GRCm39) missense probably damaging 1.00
R9467:Utp20 UTSW 10 88,640,390 (GRCm39) missense possibly damaging 0.68
R9545:Utp20 UTSW 10 88,618,511 (GRCm39) missense probably benign 0.38
R9659:Utp20 UTSW 10 88,653,171 (GRCm39) missense probably damaging 1.00
R9788:Utp20 UTSW 10 88,653,171 (GRCm39) missense probably damaging 1.00
RF005:Utp20 UTSW 10 88,661,319 (GRCm39) missense probably damaging 1.00
RF024:Utp20 UTSW 10 88,661,319 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGGGGCTATCCACACAAACAGG -3'
(R):5'- GCTGCAAACTCCTACTGTACCATCC -3'

Sequencing Primer
(F):5'- GCTAAGCCTTCTTCCTACAGG -3'
(R):5'- CACAGGCATGGCTTTCTGAG -3'
Posted On 2013-05-23