Incidental Mutation 'R6989:Utp20'
ID 543151
Institutional Source Beutler Lab
Gene Symbol Utp20
Ensembl Gene ENSMUSG00000004356
Gene Name UTP20 small subunit processome component
Synonyms DRIM, 3830408P06Rik, mDRIM
MMRRC Submission 045095-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6989 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 88582469-88662666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88614102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1284 (D1284G)
Ref Sequence ENSEMBL: ENSMUSP00000004470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004470]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000004470
AA Change: D1284G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356
AA Change: D1284G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H probably benign 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
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
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'- AAGGACAGCTGAGATTTCCTTGC -3'
(R):5'- CTGGCTAAACAGAAACCTGGGC -3'

Sequencing Primer
(F):5'- TCCTTGCAGGAGAGTTATTCTAC -3'
(R):5'- GGGCATCCAGAATATGATATCCTGAC -3'
Posted On 2018-11-28