Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00498:Utp11'

14750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp11

Ensembl Gene

ENSMUSG00000028907

Gene Name

UTP11 small subunit processome component

Synonyms

Utp11l, 2700082D03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL00498

Quality Score

Status

Chromosome

Chromosomal Location

124571953-124587393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124573532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 214 (V214A)

Ref Sequence

ENSEMBL: ENSMUSP00000030738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030738]

AlphaFold

Q9CZJ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030738
AA Change: V214A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030738
Gene: ENSMUSG00000028907
AA Change: V214A

Domain	Start	End	E-Value	Type
Pfam:Utp11	13	253	1.2e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153088

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,432,242 (GRCm39)	G128R	unknown	Het
Acsm5	T	C	7: 119,141,661 (GRCm39)		probably null	Het
Atad2	A	C	15: 57,980,216 (GRCm39)	F423V	probably damaging	Het
Carmil3	T	A	14: 55,739,352 (GRCm39)		probably null	Het
Cdc42bpa	A	C	1: 179,933,686 (GRCm39)	E775A	probably damaging	Het
Cfdp1	T	C	8: 112,567,110 (GRCm39)	E133G	probably benign	Het
Chst3	A	G	10: 60,021,441 (GRCm39)	F469L	possibly damaging	Het
Dbx1	T	C	7: 49,286,222 (GRCm39)	D81G	probably benign	Het
Dmp1	A	G	5: 104,358,021 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,896,150 (GRCm39)	T855A	probably benign	Het
Fbxw2	C	T	2: 34,695,953 (GRCm39)	A250T	probably damaging	Het
Fcgbp	T	C	7: 27,791,222 (GRCm39)	C828R	probably damaging	Het
Gmfg	G	T	7: 28,145,810 (GRCm39)	R83L	possibly damaging	Het
Gpr37l1	A	G	1: 135,089,440 (GRCm39)		probably benign	Het
Hcfc1r1	G	A	17: 23,892,982 (GRCm39)	R9Q	probably damaging	Het
Hsd17b1	A	T	11: 100,970,884 (GRCm39)	H280L	possibly damaging	Het
Hsd17b12	A	C	2: 93,913,510 (GRCm39)		probably null	Het
Itga1	A	G	13: 115,167,729 (GRCm39)	V99A	probably benign	Het
Kcnn1	A	G	8: 71,305,524 (GRCm39)	S229P	probably damaging	Het
Klhdc8a	A	G	1: 132,230,756 (GRCm39)	N207S	probably benign	Het
Lrrtm4	T	C	6: 79,999,529 (GRCm39)	W314R	probably damaging	Het
Malrd1	T	C	2: 16,146,997 (GRCm39)		probably benign	Het
Marcks	T	C	10: 37,014,513 (GRCm39)	K7E	probably damaging	Het
Mov10	A	G	3: 104,708,263 (GRCm39)		probably benign	Het
Pclo	A	T	5: 14,590,753 (GRCm39)	T1018S	unknown	Het
Sdk1	T	C	5: 142,071,361 (GRCm39)	Y1184H	probably damaging	Het
Slc6a18	A	T	13: 73,819,838 (GRCm39)	M244K	possibly damaging	Het
Snx19	C	T	9: 30,340,233 (GRCm39)	T457I	possibly damaging	Het
Stard3	T	A	11: 98,267,356 (GRCm39)	V158D	possibly damaging	Het
Tnks	G	T	8: 35,328,843 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,049,084 (GRCm39)	S314P	probably damaging	Het
Usp15	G	A	10: 122,949,501 (GRCm39)	S952L	probably benign	Het

Other mutations in Utp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Utp11	APN	4	124,576,250 (GRCm39)	missense	probably benign	0.12
IGL00905:Utp11	APN	4	124,577,586 (GRCm39)	missense	probably damaging	1.00
IGL03264:Utp11	APN	4	124,573,521 (GRCm39)	missense	probably damaging	1.00
R0549:Utp11	UTSW	4	124,579,872 (GRCm39)	splice site	probably benign
R1529:Utp11	UTSW	4	124,577,032 (GRCm39)	missense	probably benign	0.00
R1617:Utp11	UTSW	4	124,579,904 (GRCm39)	missense	probably damaging	1.00
R4004:Utp11	UTSW	4	124,576,230 (GRCm39)	missense	probably damaging	1.00
R4939:Utp11	UTSW	4	124,577,043 (GRCm39)	missense	possibly damaging	0.85
R5144:Utp11	UTSW	4	124,572,695 (GRCm39)	utr 3 prime	probably benign
R5929:Utp11	UTSW	4	124,576,036 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06