Mutagenetix > Incidental Mutation

Incidental Mutation 'R1330:Utp20'

156149

Institutional Source

Beutler Lab

Gene Symbol

Utp20

Ensembl Gene

ENSMUSG00000004356

Gene Name

UTP20 small subunit processome component

Synonyms

DRIM, 3830408P06Rik, mDRIM

MMRRC Submission

039395-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88582469-88662666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88637051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 720 (P720L)

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: P720L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356
AA Change: P720L

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

0.3517

Coding Region Coverage

1x: 98.5%
3x: 97.2%
10x: 92.6%
20x: 82.0%

Validation Efficiency

100% (40/40)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,097,018 (GRCm39)	T98A	probably benign	Het
Adgre4	T	A	17: 56,085,814 (GRCm39)	C38S	probably benign	Het
Adgrf3	T	A	5: 30,400,093 (GRCm39)	T83S	probably benign	Het
Arhgef40	T	C	14: 52,227,613 (GRCm39)	V453A	probably benign	Het
Art4	A	T	6: 136,831,339 (GRCm39)		probably benign	Het
Cdhr2	A	G	13: 54,882,081 (GRCm39)	K1177R	possibly damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Ddx6	T	C	9: 44,539,070 (GRCm39)		probably benign	Het
Dolk	A	T	2: 30,175,112 (GRCm39)	V311E	probably damaging	Het
Dstyk	A	G	1: 132,377,618 (GRCm39)	N408S	probably benign	Het
Efcab3	A	G	11: 104,637,116 (GRCm39)	Y1049C	possibly damaging	Het
Eva1c	A	C	16: 90,701,284 (GRCm39)	E318D	probably damaging	Het
Frem3	T	A	8: 81,395,468 (GRCm39)	W1832R	probably damaging	Het
Jup	A	T	11: 100,263,502 (GRCm39)	I689N	probably benign	Het
Kcnh7	A	G	2: 62,607,755 (GRCm39)	S609P	possibly damaging	Het
Lrch4	G	A	5: 137,636,051 (GRCm39)	R368Q	probably damaging	Het
Ncbp1	G	A	4: 46,167,354 (GRCm39)	V586M	probably benign	Het
Ncstn	C	T	1: 171,899,092 (GRCm39)	M346I	probably damaging	Het
Osbpl1a	A	G	18: 13,015,251 (GRCm39)		probably null	Het
Pcdh12	A	G	18: 38,414,914 (GRCm39)	V737A	probably benign	Het
Pds5b	T	A	5: 150,684,542 (GRCm39)	M600K	probably damaging	Het
Rbm25	A	G	12: 83,724,666 (GRCm39)	D805G	probably damaging	Het
Rfx7	C	T	9: 72,524,547 (GRCm39)	T579I	probably benign	Het
Rhod	C	A	19: 4,476,182 (GRCm39)	A190S	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc22a2	A	C	17: 12,805,699 (GRCm39)	D150A	possibly damaging	Het
Spink11	A	G	18: 44,329,195 (GRCm39)	I17T	unknown	Het
Tas1r2	A	G	4: 139,396,640 (GRCm39)	I660V	probably benign	Het
Vmn1r1	A	T	1: 181,985,572 (GRCm39)	L31H	probably damaging	Het
Vmn2r23	T	C	6: 123,718,963 (GRCm39)	L772P	probably damaging	Het
Wap	T	C	11: 6,586,818 (GRCm39)	T94A	unknown	Het
Wdr47	T	C	3: 108,537,069 (GRCm39)	S586P	probably benign	Het
Zfp318	A	G	17: 46,724,684 (GRCm39)	Y2229C	possibly damaging	Het
Zfp429	T	C	13: 67,544,262 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCACAGCATACGCTATTTTGTGAC -3'
(R):5'- ACTTTGTGAGCAAACATCTGGGATAAGC -3'

Sequencing Primer
(F):5'- TGCTAGACAGCTAGGATTTTGAAAAG -3'
(R):5'- AGCTTGCATACTGTTTTCTAATGAG -3'

Posted On

2014-02-11