Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03090:Utp18'

418314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp18

Ensembl Gene

ENSMUSG00000054079

Gene Name

UTP18 small subunit processome component

Synonyms

Wdr50, 6230425C22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL03090

Quality Score

Status

Chromosome

Chromosomal Location

93750069-93776592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93759245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 410 (R410G)

Ref Sequence

ENSEMBL: ENSMUSP00000068103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066888]

AlphaFold

Q5SSI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066888
AA Change: R410G

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

SMART Domains

Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: R410G

Domain	Start	End	E-Value	Type
low complexity region	43	64	N/A	INTRINSIC
low complexity region	100	111	N/A	INTRINSIC
low complexity region	139	146	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
WD40	236	275	7.4e0	SMART
WD40	280	320	3.08e0	SMART
Blast:WD40	325	365	4e-17	BLAST
WD40	368	406	2.23e-1	SMART
WD40	409	449	1.78e0	SMART
WD40	458	499	2.05e1	SMART
WD40	510	545	7.92e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130797

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,247,965 (GRCm39)	Y25C	probably benign	Het
Agap3	A	C	5: 24,706,204 (GRCm39)	T823P	possibly damaging	Het
Arap3	T	C	18: 38,122,165 (GRCm39)	E641G	probably benign	Het
Armc6	C	T	8: 70,684,004 (GRCm39)	R16Q	probably benign	Het
Asb15	T	A	6: 24,567,185 (GRCm39)	I502K	possibly damaging	Het
Atp8b3	T	A	10: 80,366,438 (GRCm39)	N275I	probably damaging	Het
Calr	G	A	8: 85,573,373 (GRCm39)	P19S	possibly damaging	Het
Cdc6	T	A	11: 98,810,122 (GRCm39)	L477*	probably null	Het
Clba1	T	C	12: 112,779,340 (GRCm39)		probably null	Het
Cnnm4	A	G	1: 36,510,952 (GRCm39)	D60G	probably benign	Het
Col12a1	G	T	9: 79,585,652 (GRCm39)	Q1242K	probably damaging	Het
Dusp18	T	A	11: 3,847,466 (GRCm39)	I152N	probably damaging	Het
Eef1akmt1	T	C	14: 57,795,543 (GRCm39)	T69A	probably damaging	Het
Efhb	T	C	17: 53,769,958 (GRCm39)	Q117R	probably benign	Het
Fancd2	T	A	6: 113,514,558 (GRCm39)		probably null	Het
Fat3	C	T	9: 16,288,535 (GRCm39)	W329*	probably null	Het
Frem3	A	G	8: 81,344,858 (GRCm39)	Y1727C	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gatb	C	A	3: 85,526,330 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,809 (GRCm39)	S77T	probably damaging	Het
Gramd1c	A	T	16: 43,802,463 (GRCm39)	D649E	probably benign	Het
Herc2	T	A	7: 55,854,221 (GRCm39)	L3745H	probably damaging	Het
Klk1b11	T	A	7: 43,426,977 (GRCm39)	M87K	probably benign	Het
Krt39	T	G	11: 99,409,833 (GRCm39)		probably benign	Het
Lamc3	T	A	2: 31,798,710 (GRCm39)		probably benign	Het
Lars2	T	G	9: 123,285,025 (GRCm39)	M786R	probably damaging	Het
Lmcd1	T	A	6: 112,287,460 (GRCm39)	S49T	probably benign	Het
Lrba	T	C	3: 86,680,448 (GRCm39)	Y2689H	probably benign	Het
Map3k6	T	C	4: 132,970,677 (GRCm39)	V188A	probably benign	Het
Mbd6	A	C	10: 127,123,013 (GRCm39)	L49W	probably damaging	Het
Myo5a	A	T	9: 75,028,115 (GRCm39)	Y100F	probably damaging	Het
Myo9a	T	A	9: 59,801,418 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,538,396 (GRCm39)	D663G	probably damaging	Het
Nup214	A	T	2: 31,908,254 (GRCm39)	M1075L	probably benign	Het
Pkd1l3	C	A	8: 110,382,165 (GRCm39)	Y240*	probably null	Het
Pomk	T	A	8: 26,473,338 (GRCm39)	N205I	probably damaging	Het
Sdr16c5	A	G	4: 4,006,575 (GRCm39)		probably benign	Het
Setd1a	A	G	7: 127,385,672 (GRCm39)	E250G	possibly damaging	Het
Slc26a6	A	G	9: 108,737,890 (GRCm39)	E541G	probably benign	Het
Slc4a3	A	G	1: 75,531,661 (GRCm39)	E876G	probably benign	Het
Srrm4	A	G	5: 116,587,643 (GRCm39)		probably benign	Het
Stx12	A	G	4: 132,590,540 (GRCm39)	V119A	probably benign	Het
Tmem8b	T	A	4: 43,689,721 (GRCm39)	S333T	probably damaging	Het
Usp31	T	C	7: 121,278,753 (GRCm39)		probably benign	Het
Vmn1r172	T	C	7: 23,359,463 (GRCm39)	I116T	probably damaging	Het
Vwa8	T	A	14: 79,172,041 (GRCm39)	L274Q	possibly damaging	Het
Wdfy3	A	T	5: 102,014,142 (GRCm39)	F2655I	probably damaging	Het
Zfp423	A	T	8: 88,508,071 (GRCm39)	Y737N	probably damaging	Het
Zyx	C	A	6: 42,334,276 (GRCm39)	S500*	probably null	Het

Other mutations in Utp18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Utp18	APN	11	93,760,674 (GRCm39)	missense	possibly damaging	0.95
IGL02061:Utp18	APN	11	93,772,967 (GRCm39)	missense	probably benign	0.05
IGL02402:Utp18	APN	11	93,774,617 (GRCm39)	unclassified	probably benign
IGL02552:Utp18	APN	11	93,759,160 (GRCm39)	missense	probably damaging	0.97
IGL03086:Utp18	APN	11	93,766,882 (GRCm39)	missense	probably damaging	1.00
IGL03281:Utp18	APN	11	93,766,784 (GRCm39)	missense	probably damaging	1.00
R0042:Utp18	UTSW	11	93,766,684 (GRCm39)	missense	probably damaging	0.99
R0281:Utp18	UTSW	11	93,773,003 (GRCm39)	unclassified	probably benign
R0399:Utp18	UTSW	11	93,770,973 (GRCm39)	splice site	probably benign
R0543:Utp18	UTSW	11	93,766,661 (GRCm39)	missense	probably damaging	1.00
R1512:Utp18	UTSW	11	93,776,390 (GRCm39)	missense	probably benign	0.00
R1674:Utp18	UTSW	11	93,766,879 (GRCm39)	critical splice donor site	probably null
R2013:Utp18	UTSW	11	93,766,948 (GRCm39)	missense	possibly damaging	0.91
R4426:Utp18	UTSW	11	93,757,264 (GRCm39)	missense	probably damaging	1.00
R4427:Utp18	UTSW	11	93,757,264 (GRCm39)	missense	probably damaging	1.00
R4455:Utp18	UTSW	11	93,776,273 (GRCm39)	missense	probably benign	0.09
R4458:Utp18	UTSW	11	93,761,359 (GRCm39)	missense	possibly damaging	0.92
R5085:Utp18	UTSW	11	93,761,363 (GRCm39)	missense	possibly damaging	0.78
R5297:Utp18	UTSW	11	93,766,915 (GRCm39)	missense	probably damaging	0.99
R5321:Utp18	UTSW	11	93,757,260 (GRCm39)	missense	probably damaging	1.00
R6006:Utp18	UTSW	11	93,776,449 (GRCm39)	missense	probably benign	0.00
R6845:Utp18	UTSW	11	93,776,582 (GRCm39)	unclassified	probably benign
R7211:Utp18	UTSW	11	93,776,206 (GRCm39)	missense	probably benign	0.01
R7330:Utp18	UTSW	11	93,772,899 (GRCm39)	critical splice donor site	probably null
R8193:Utp18	UTSW	11	93,766,903 (GRCm39)	missense	probably damaging	1.00
R9523:Utp18	UTSW	11	93,768,833 (GRCm39)	missense	probably damaging	1.00
RF015:Utp18	UTSW	11	93,776,287 (GRCm39)	missense	probably damaging	1.00
Z1177:Utp18	UTSW	11	93,766,647 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02