Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02367:Utp20'

290795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp20

Ensembl Gene

ENSMUSG00000004356

Gene Name

UTP20 small subunit processome component

Synonyms

DRIM, 3830408P06Rik, mDRIM

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02367

Quality Score

Status

Chromosome

Chromosomal Location

88582469-88662666 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 88607715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004470]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004470

SMART Domains

Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356

Domain	Start	End	E-Value	Type
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: ENSMUST00000219662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220275

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,748 (GRCm39)	L1215P	probably benign	Het
Angptl7	T	C	4: 148,584,601 (GRCm39)	N49S	possibly damaging	Het
Asns	A	G	6: 7,685,411 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,781,194 (GRCm39)	Y1419*	probably null	Het
Bptf	A	T	11: 106,964,178 (GRCm39)	I1672N	probably benign	Het
Cgas	G	A	9: 78,341,667 (GRCm39)	T370I	probably benign	Het
Chd1	A	G	17: 17,610,315 (GRCm39)	T490A	probably damaging	Het
Cyfip2	A	T	11: 46,167,732 (GRCm39)	C223*	probably null	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dnah12	T	C	14: 26,430,316 (GRCm39)	V308A	probably benign	Het
Dync2h1	A	G	9: 7,158,926 (GRCm39)	V703A	probably damaging	Het
Fgd3	A	G	13: 49,440,802 (GRCm39)	F210L	probably damaging	Het
Gm6526	T	G	14: 43,988,262 (GRCm39)	V171G	probably damaging	Het
Grin3a	A	G	4: 49,702,805 (GRCm39)	Y894H	probably damaging	Het
Grm3	C	A	5: 9,561,660 (GRCm39)	C730F	probably damaging	Het
Habp4	C	A	13: 64,321,905 (GRCm39)	P181T	probably damaging	Het
Hdac4	A	G	1: 91,886,171 (GRCm39)		probably benign	Het
Ints5	A	G	19: 8,872,959 (GRCm39)	D306G	probably benign	Het
Mid2	T	A	X: 139,637,245 (GRCm39)	I273N	probably damaging	Het
Ndufs2	A	T	1: 171,066,934 (GRCm39)	Y114*	probably null	Het
Neu4	G	T	1: 93,952,213 (GRCm39)	R194L	probably damaging	Het
Ntng1	A	T	3: 110,042,829 (GRCm39)		probably null	Het
Nub1	A	G	5: 24,894,392 (GRCm39)	M1V	probably null	Het
Olfml2a	A	G	2: 38,844,680 (GRCm39)	T379A	probably benign	Het
Or9e1	A	T	11: 58,732,338 (GRCm39)	I133F	probably benign	Het
Pex3	G	T	10: 13,400,643 (GRCm39)	Q303K	probably benign	Het
Pmp2	A	T	3: 10,247,560 (GRCm39)	I43N	probably damaging	Het
Pnliprp1	T	A	19: 58,726,601 (GRCm39)	D319E	probably benign	Het
Rap1gap2	A	T	11: 74,288,181 (GRCm39)		probably null	Het
Rpl15-ps6	T	C	15: 52,341,368 (GRCm39)		noncoding transcript	Het
Rwdd3	A	G	3: 120,952,679 (GRCm39)	V104A	probably damaging	Het
Sbf1	A	T	15: 89,191,775 (GRCm39)	V157E	probably damaging	Het
Slc4a11	T	A	2: 130,526,879 (GRCm39)	I750F	probably damaging	Het
Tcea1	G	A	1: 4,948,356 (GRCm39)		probably null	Het
Ush2a	A	T	1: 188,516,943 (GRCm39)	M3218L	probably benign	Het
Zfp493	T	A	13: 67,935,089 (GRCm39)	Y347*	probably null	Het
Zswim6	T	C	13: 107,880,637 (GRCm39)		noncoding transcript	Het

Other mutations in Utp20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16