Mutagenetix > Incidental Mutation

Incidental Mutation 'R0037:Utp20'

15546

Institutional Source

Beutler Lab

Gene Symbol

Utp20

Ensembl Gene

ENSMUSG00000004356

Gene Name

UTP20 small subunit processome component

Synonyms

DRIM, 3830408P06Rik, mDRIM

MMRRC Submission

038331-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0037 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88582469-88662666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88634266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 810 (D810G)

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: D810G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356
AA Change: D810G

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

Meta Mutation Damage Score

0.0786

Coding Region Coverage

1x: 81.5%
3x: 73.9%
10x: 52.8%
20x: 32.9%

Validation Efficiency

94% (83/88)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,769,891 (GRCm39)	R330Q	possibly damaging	Het
Amph	A	T	13: 19,284,823 (GRCm39)	S250C	possibly damaging	Het
Ankrd61	T	C	5: 143,831,795 (GRCm39)	N3S	probably damaging	Het
Camsap2	C	T	1: 136,209,630 (GRCm39)	E621K	probably damaging	Het
Cpt2	A	G	4: 107,765,171 (GRCm39)	S152P	probably damaging	Het
Csmd1	T	A	8: 15,967,248 (GRCm39)	Q3205L	probably damaging	Het
Dag1	G	T	9: 108,084,552 (GRCm39)	P863Q	probably damaging	Het
Dclk1	A	G	3: 55,163,480 (GRCm39)	I191V	probably benign	Het
Ddhd1	A	G	14: 45,847,967 (GRCm39)	L567P	probably damaging	Het
Enox1	T	C	14: 77,936,750 (GRCm39)		probably benign	Het
Exoc3	T	C	13: 74,347,658 (GRCm39)	E104G	probably damaging	Het
Foxp1	T	A	6: 99,139,930 (GRCm39)	Q17L	probably damaging	Het
Fscn1	A	G	5: 142,956,449 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,411,811 (GRCm39)	V91A	probably benign	Het
Gm5475	T	A	15: 100,322,083 (GRCm39)	Y77*	probably null	Het
Gm5800	T	C	14: 51,953,605 (GRCm39)		probably benign	Het
Hs2st1	T	A	3: 144,143,405 (GRCm39)	K213*	probably null	Het
Il5ra	T	A	6: 106,719,647 (GRCm39)	Y62F	probably damaging	Het
Inpp5d	A	G	1: 87,635,851 (GRCm39)	E734G	probably damaging	Het
Insig2	A	T	1: 121,234,649 (GRCm39)	C194S	probably damaging	Het
Lemd3	A	C	10: 120,761,361 (GRCm39)	H898Q	possibly damaging	Het
Lrp4	A	G	2: 91,301,548 (GRCm39)	T43A	probably benign	Het
Mast3	C	T	8: 71,236,343 (GRCm39)		probably null	Het
Melk	T	C	4: 44,360,864 (GRCm39)		probably benign	Het
Myo10	C	T	15: 25,666,618 (GRCm39)		probably benign	Het
Nlrc5	G	A	8: 95,216,163 (GRCm39)	V967M	probably benign	Het
Nlrp9b	T	A	7: 19,757,647 (GRCm39)	F295I	probably damaging	Het
Phf3	A	T	1: 30,843,999 (GRCm39)	D1653E	probably benign	Het
Ppfia4	A	T	1: 134,251,827 (GRCm39)	L449Q	probably damaging	Het
Ppp1r16b	T	A	2: 158,599,129 (GRCm39)	I367N	probably damaging	Het
Ralgapb	T	C	2: 158,279,331 (GRCm39)	L139S	probably damaging	Het
Slc20a1	T	C	2: 129,052,692 (GRCm39)	V658A	probably damaging	Het
Son	C	A	16: 91,461,616 (GRCm39)	A347E	probably damaging	Het
Tprg1l	C	A	4: 154,244,594 (GRCm39)	V134L	possibly damaging	Het
Trim24	A	T	6: 37,934,484 (GRCm39)	N733I	probably damaging	Het
Uggt1	A	T	1: 36,225,013 (GRCm39)	D540E	probably benign	Het
Urb2	T	A	8: 124,773,934 (GRCm39)	F1488L	probably damaging	Het
Zfp473	T	A	7: 44,383,324 (GRCm39)	K335N	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
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
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

2012-12-21