Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02986:Utp20'

406732

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 #

IGL02986

Quality Score

Status

Chromosome

Chromosomal Location

88582469-88662666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88611147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1390 (F1390S)

Ref Sequence

ENSEMBL: ENSMUSP00000004470 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004470
AA Change: F1390S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356
AA Change: F1390S

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,263,311 (GRCm39)	V264A	possibly damaging	Het
Akr1c6	G	T	13: 4,486,414 (GRCm39)	V74L	probably benign	Het
Atp10a	T	G	7: 58,478,469 (GRCm39)	V1504G	probably benign	Het
Ccng1	A	G	11: 40,641,690 (GRCm39)		probably benign	Het
Celsr3	A	T	9: 108,718,454 (GRCm39)		probably null	Het
Coro1b	T	C	19: 4,199,470 (GRCm39)	V43A	possibly damaging	Het
Dab1	A	G	4: 104,336,418 (GRCm39)	T5A	probably benign	Het
Dennd5a	C	T	7: 109,534,731 (GRCm39)	A47T	probably benign	Het
Dgkb	A	G	12: 38,150,399 (GRCm39)	T69A	possibly damaging	Het
Dhx37	G	A	5: 125,496,379 (GRCm39)	P721L	probably damaging	Het
Efr3b	T	C	12: 4,016,495 (GRCm39)	N641D	probably benign	Het
Espnl	A	T	1: 91,272,572 (GRCm39)	Q600L	probably benign	Het
Esyt1	A	G	10: 128,352,626 (GRCm39)	V693A	probably damaging	Het
Fscn2	A	G	11: 120,258,176 (GRCm39)	D366G	possibly damaging	Het
Gcsam	C	A	16: 45,440,366 (GRCm39)	F136L	probably benign	Het
Gm10643	A	T	8: 84,790,887 (GRCm39)		probably benign	Het
Habp2	A	T	19: 56,299,624 (GRCm39)	D174V	probably benign	Het
Hgfac	T	C	5: 35,201,207 (GRCm39)	V210A	probably benign	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
L3mbtl1	T	C	2: 162,812,225 (GRCm39)	W757R	probably damaging	Het
Lrrfip2	A	G	9: 110,990,461 (GRCm39)		probably null	Het
Ly75	T	C	2: 60,138,535 (GRCm39)	D1444G	probably damaging	Het
Mars1	A	G	10: 127,133,438 (GRCm39)	V765A	probably benign	Het
Med1	A	G	11: 98,047,086 (GRCm39)		probably benign	Het
Msln	G	A	17: 25,971,907 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,197,645 (GRCm39)		probably null	Het
Or1p1c	T	G	11: 74,160,928 (GRCm39)	F238V	possibly damaging	Het
Or7e173	A	T	9: 19,939,007 (GRCm39)	F76I	probably benign	Het
Otop2	T	A	11: 115,220,393 (GRCm39)	M411K	probably benign	Het
Picalm	A	G	7: 89,856,793 (GRCm39)	I649M	probably benign	Het
Plekha8	T	C	6: 54,606,851 (GRCm39)	L382P	probably damaging	Het
Pspn	A	G	17: 57,306,853 (GRCm39)		probably benign	Het
Rnf215	A	G	11: 4,089,793 (GRCm39)	T269A	probably damaging	Het
Rps6kc1	A	T	1: 190,566,258 (GRCm39)	L329Q	probably damaging	Het
Srms	T	A	2: 180,854,290 (GRCm39)	R92S	possibly damaging	Het
Ssxb10	C	A	X: 8,201,845 (GRCm39)	S157*	probably null	Het
Tfap2c	T	C	2: 172,399,171 (GRCm39)	S448P	probably damaging	Het
Thsd7b	A	G	1: 129,843,352 (GRCm39)	N855D	probably benign	Het
Timeless	A	C	10: 128,085,629 (GRCm39)	D887A	possibly damaging	Het
Tyms	T	C	5: 30,266,997 (GRCm39)	Y169C	probably damaging	Het
Unc45b	T	A	11: 82,808,005 (GRCm39)	C207S	probably damaging	Het
Vmn2r53	A	T	7: 12,315,393 (GRCm39)		probably benign	Het
Zfp369	A	T	13: 65,428,095 (GRCm39)	D18V	probably damaging	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
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
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

2016-08-02