Incidental Mutation 'R2435:Utp20'
ID 249553
Institutional Source Beutler Lab
Gene Symbol Utp20
Ensembl Gene ENSMUSG00000004356
Gene Name UTP20 small subunit processome component
Synonyms DRIM, 3830408P06Rik, mDRIM
MMRRC Submission 040396-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R2435 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88582469-88662666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88656753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 151 (S151P)
Ref Sequence ENSEMBL: ENSMUSP00000004470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004470]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000004470
AA Change: S151P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356
AA Change: S151P

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 noncoding transcript
Transcript: ENSMUST00000220439
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,898,294 (GRCm39) T226I probably benign Het
Acvr1 T C 2: 58,369,704 (GRCm39) N102D probably damaging Het
Cd34 T A 1: 194,621,334 (GRCm39) C21S probably damaging Het
Cdh18 C T 15: 23,367,094 (GRCm39) R267W probably damaging Het
Ckap5 T A 2: 91,411,490 (GRCm39) N966K probably benign Het
Clec4e A G 6: 123,265,855 (GRCm39) V44A probably damaging Het
Cubn T A 2: 13,323,083 (GRCm39) N2828I probably damaging Het
Dnah10 G T 5: 124,839,929 (GRCm39) probably null Het
Fshr A T 17: 89,508,024 (GRCm39) V6D unknown Het
Gcc2 A G 10: 58,130,602 (GRCm39) D1398G probably damaging Het
Gpi1 G A 7: 33,905,254 (GRCm39) A390V probably damaging Het
Gypa G T 8: 81,233,397 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifna13 T A 4: 88,562,366 (GRCm39) Q86L probably damaging Het
Itgae T A 11: 73,012,763 (GRCm39) C698* probably null Het
Ivns1abp T C 1: 151,239,061 (GRCm39) V625A probably benign Het
Kcnh2 A G 5: 24,531,345 (GRCm39) probably null Het
Kcnj6 G A 16: 94,563,538 (GRCm39) T320M probably damaging Het
Mblac2 T C 13: 81,898,368 (GRCm39) I248T probably damaging Het
Muc5ac A T 7: 141,371,841 (GRCm39) Y2647F possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4k15 T C 14: 50,364,211 (GRCm39) M59T probably damaging Het
Or6c217 G T 10: 129,738,173 (GRCm39) N135K possibly damaging Het
Pard3b T A 1: 62,626,897 (GRCm39) V1059E probably damaging Het
Pkd1l3 A C 8: 110,377,334 (GRCm39) I1585L probably benign Het
Pramel31 A T 4: 144,089,473 (GRCm39) I264F possibly damaging Het
Prrc2b A T 2: 32,109,741 (GRCm39) S1791C probably damaging Het
Rbmxl2 C A 7: 106,809,538 (GRCm39) S274R probably damaging Het
Serpini2 T C 3: 75,165,475 (GRCm39) E168G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sis A G 3: 72,819,237 (GRCm39) S1440P probably benign Het
Snrnp40 A G 4: 130,278,344 (GRCm39) H283R probably damaging Het
Tcaf2 G T 6: 42,607,298 (GRCm39) Q219K possibly damaging Het
Tenm3 C T 8: 48,740,988 (GRCm39) R803H probably damaging Het
Ugt2b5 T C 5: 87,287,465 (GRCm39) D234G probably damaging Het
Unc13d A G 11: 115,959,514 (GRCm39) F653S probably damaging Het
Unc93b1 A G 19: 3,986,373 (GRCm39) I136V possibly damaging Het
Vmn2r50 C A 7: 9,787,026 (GRCm39) W27L probably benign Het
Zan T C 5: 137,436,836 (GRCm39) S2006G unknown 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
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
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'- CTGGCACATCAACTCTGTATAAGG -3'
(R):5'- AGGCCTGATTAGAAGTTCTTCC -3'

Sequencing Primer
(F):5'- GAAATAATTAGGCAGTGTGCTGG -3'
(R):5'- TTCATGAAAACGATCATAGGCTATC -3'
Posted On 2014-11-12