Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Utp18'

298131

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: 0.963) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

93750069-93776592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93759160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 438 (C438F)

Ref Sequence

ENSEMBL: ENSMUSP00000068103 (fasta)

Gene Model

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

AlphaFold

Q5SSI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066888
AA Change: C438F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: C438F

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,145 (GRCm39)	L178S	probably damaging	Het
Abca12	A	G	1: 71,333,906 (GRCm39)	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Apc	T	A	18: 34,446,035 (GRCm39)	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,235,324 (GRCm39)	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Astn1	C	T	1: 158,332,965 (GRCm39)	S349F	possibly damaging	Het
Bard1	T	C	1: 71,104,815 (GRCm39)		probably benign	Het
Batf2	T	A	19: 6,221,537 (GRCm39)	Y116N	probably benign	Het
Bltp3b	T	A	10: 89,642,605 (GRCm39)	L10*	probably null	Het
Cbx6	T	C	15: 79,713,094 (GRCm39)	H111R	probably damaging	Het
Cd44	T	A	2: 102,679,076 (GRCm39)	N242I	probably benign	Het
Cdnf	C	T	2: 3,525,012 (GRCm39)	Q184*	probably null	Het
Chd2	C	A	7: 73,097,068 (GRCm39)		probably benign	Het
Cmtm6	G	A	9: 114,566,374 (GRCm39)	V88M	probably damaging	Het
Col24a1	C	A	3: 145,179,962 (GRCm39)	S1151R	possibly damaging	Het
Csta2	A	G	16: 36,073,459 (GRCm39)	E15G	probably damaging	Het
Degs1l	T	A	1: 180,882,463 (GRCm39)	V75E	possibly damaging	Het
Dnajc2	T	C	5: 21,988,061 (GRCm39)	D6G	probably damaging	Het
Eif3a	G	A	19: 60,751,664 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,254,633 (GRCm39)	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,523,286 (GRCm39)	D1380E	probably damaging	Het
Fry	A	T	5: 150,304,375 (GRCm39)	K588N	probably damaging	Het
Gm18856	G	A	13: 14,139,805 (GRCm39)		probably benign	Het
Gpr37	G	T	6: 25,688,686 (GRCm39)	T137K	probably benign	Het
Gzmc	T	C	14: 56,472,039 (GRCm39)	M1V	probably null	Het
Htr5a	T	C	5: 28,047,958 (GRCm39)	V171A	probably benign	Het
Ints6l	T	C	X: 55,500,557 (GRCm39)		probably benign	Het
Kcnma1	C	T	14: 23,436,327 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,983,899 (GRCm39)	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,072,878 (GRCm39)	V322I	possibly damaging	Het
Nlrp1b	C	T	11: 71,063,057 (GRCm39)	V668I	possibly damaging	Het
Ntf3	T	C	6: 126,078,823 (GRCm39)	N228D	probably damaging	Het
Nup133	G	A	8: 124,655,994 (GRCm39)	R496W	possibly damaging	Het
Or4c10	T	C	2: 89,760,903 (GRCm39)	V250A	probably benign	Het
Or51i1	C	A	7: 103,671,463 (GRCm39)	G21W	probably damaging	Het
Pah	C	T	10: 87,414,707 (GRCm39)		probably benign	Het
Pan2	G	T	10: 128,154,896 (GRCm39)	W1112L	probably damaging	Het
Pkn3	G	A	2: 29,970,879 (GRCm39)	R209Q	probably damaging	Het
Plaa	C	T	4: 94,470,717 (GRCm39)		probably null	Het
Qprt	C	T	7: 126,708,027 (GRCm39)	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,582,204 (GRCm39)	S108A	probably damaging	Het
Smg1	T	A	7: 117,795,117 (GRCm39)		probably benign	Het
Spink5	T	A	18: 44,125,235 (GRCm39)	C368S	possibly damaging	Het
Sptan1	T	A	2: 29,908,486 (GRCm39)	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,669,031 (GRCm39)	L170F	probably damaging	Het
Tesmin	C	T	19: 3,452,483 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,949,530 (GRCm39)	C1697*	probably null	Het
Tmco4	T	C	4: 138,785,690 (GRCm39)	S587P	probably benign	Het
Tmem208	G	A	8: 106,055,329 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,121,623 (GRCm39)	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,682,699 (GRCm39)	D390V	probably damaging	Het
Uba7	A	G	9: 107,858,589 (GRCm39)	I807V	probably benign	Het
Vps13d	T	C	4: 144,899,707 (GRCm39)	K191E	possibly damaging	Het
Wdr27	A	G	17: 15,146,453 (GRCm39)	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably damaging	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
IGL03086:Utp18	APN	11	93,766,882 (GRCm39)	missense	probably damaging	1.00
IGL03090:Utp18	APN	11	93,759,245 (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

2015-04-16