Incidental Mutation 'R2110:Utp20'
ID 232470
Institutional Source Beutler Lab
Gene Symbol Utp20
Ensembl Gene ENSMUSG00000004356
Gene Name UTP20 small subunit processome component
Synonyms DRIM, 3830408P06Rik, mDRIM
MMRRC Submission 040114-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R2110 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88582469-88662666 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 88603313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000004470
SMART Domains Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356

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 probably benign
Transcript: ENSMUST00000220188
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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
9330161L09Rik T C 12: 103,373,848 (GRCm39) probably benign Het
Ablim1 T C 19: 57,032,245 (GRCm39) D638G possibly damaging Het
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Aim2 T C 1: 173,287,279 (GRCm39) M93T probably benign Het
Alpk2 T C 18: 65,440,151 (GRCm39) E414G possibly damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Bard1 T A 1: 71,114,550 (GRCm39) K144* probably null Het
Begain G T 12: 108,999,843 (GRCm39) Y514* probably null Het
Ccdc186 A T 19: 56,788,574 (GRCm39) I545N possibly damaging Het
Cfap251 G A 5: 123,392,438 (GRCm39) probably benign Het
Cfap43 T C 19: 47,824,197 (GRCm39) Y58C probably damaging Het
Cfap54 A T 10: 92,722,229 (GRCm39) D2437E unknown Het
Chd2 A G 7: 73,079,735 (GRCm39) S1722P probably benign Het
Clec5a C T 6: 40,562,137 (GRCm39) G9E probably damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col3a1 C T 1: 45,369,305 (GRCm39) P331S unknown Het
Ctsk T C 3: 95,413,988 (GRCm39) I245T probably benign Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Eci2 A G 13: 35,174,699 (GRCm39) probably null Het
Ecm1 C T 3: 95,643,254 (GRCm39) A349T probably benign Het
Efemp2 A G 19: 5,525,190 (GRCm39) E32G probably damaging Het
Flt4 C A 11: 49,516,131 (GRCm39) T78K probably benign Het
Foxg1 A G 12: 49,431,708 (GRCm39) probably benign Het
Fv1 T C 4: 147,954,619 (GRCm39) V395A possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gpha2 T G 19: 6,277,532 (GRCm39) V96G probably damaging Het
Gse1 A G 8: 121,293,719 (GRCm39) Y228C probably damaging Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Ildr1 A G 16: 36,542,341 (GRCm39) E247G probably damaging Het
Ktn1 T A 14: 47,931,345 (GRCm39) M646K possibly damaging Het
Lrrc37a T A 11: 103,388,648 (GRCm39) H2259L unknown Het
Map1b A T 13: 99,567,629 (GRCm39) H1697Q unknown Het
Mdn1 A G 4: 32,700,409 (GRCm39) E1456G probably damaging Het
Mta1 C T 12: 113,095,248 (GRCm39) T467I probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Ncoa5 C A 2: 164,854,838 (GRCm39) D95Y possibly damaging Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nr3c2 T C 8: 77,635,156 (GRCm39) S86P possibly damaging Het
Nup153 A G 13: 46,837,404 (GRCm39) S1273P probably benign Het
Or8g52 G A 9: 39,631,018 (GRCm39) R165Q probably benign Het
Pcsk5 C A 19: 17,450,423 (GRCm39) G1142C probably damaging Het
Pgghg A G 7: 140,523,453 (GRCm39) D244G possibly damaging Het
Polr1has T C 17: 37,276,336 (GRCm39) V306A possibly damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Rad52 A T 6: 119,897,855 (GRCm39) Q356L possibly damaging Het
Rhpn1 T A 15: 75,585,083 (GRCm39) F507I probably damaging Het
Rhpn2 T C 7: 35,076,433 (GRCm39) M328T probably benign Het
Rnf19a T C 15: 36,254,665 (GRCm39) I298V possibly damaging Het
Rwdd2a T C 9: 86,456,184 (GRCm39) V120A probably benign Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpina3a G A 12: 104,082,481 (GRCm39) A85T probably damaging Het
Slc16a11 G A 11: 70,106,146 (GRCm39) G80D probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Spg21 T A 9: 65,391,711 (GRCm39) probably null Het
Spopfm2 A G 3: 94,082,834 (GRCm39) S326P probably damaging Het
Sry T C Y: 2,662,901 (GRCm39) H253R unknown Het
Swt1 A G 1: 151,279,636 (GRCm39) S391P probably damaging Het
Uhrf2 A G 19: 30,033,888 (GRCm39) Y200C probably damaging Het
Utp15 T C 13: 98,391,493 (GRCm39) H248R probably damaging Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r56 A T 7: 5,199,179 (GRCm39) M146K probably damaging Het
Zfp143 A T 7: 109,685,453 (GRCm39) K399N probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y 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
R0491:Utp20 UTSW 10 88,596,774 (GRCm39) missense probably damaging 1.00
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
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'- TCTGTTCTTGAGGAGGACACAC -3'
(R):5'- ACCATGTTGGCACATCGTTG -3'

Sequencing Primer
(F):5'- GTTCTTGAGGAGGACACACACTTTC -3'
(R):5'- ACATCGTTGTGCTTCTTTGAAC -3'
Posted On 2014-09-18