Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03264:Utp11'

414995

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: 0.955) question?

Stock #

IGL03264

Quality Score

Status

Chromosome

Chromosomal Location

124571953-124587393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124573521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 218 (K218E)

Ref Sequence

ENSEMBL: ENSMUSP00000030738 (fasta)

Gene Model

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

AlphaFold

Q9CZJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030738
AA Change: K218E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030738
Gene: ENSMUSG00000028907
AA Change: K218E

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	G	17: 31,283,428 (GRCm39)	S38A	probably benign	Het
Alkbh1	T	G	12: 87,478,197 (GRCm39)	D238A	probably damaging	Het
Arhgef17	A	T	7: 100,529,220 (GRCm39)	D1531E	probably benign	Het
Bltp1	A	T	3: 37,056,784 (GRCm39)	I3152F	probably damaging	Het
Cacng3	G	T	7: 122,271,180 (GRCm39)	G62W	probably damaging	Het
Cdh22	T	C	2: 164,958,093 (GRCm39)	I625V	probably benign	Het
Ces5a	T	C	8: 94,228,898 (GRCm39)	N444S	possibly damaging	Het
Chst13	A	T	6: 90,286,193 (GRCm39)	Y256*	probably null	Het
Clcn5	T	A	X: 7,044,613 (GRCm39)	H177L	probably benign	Het
Dars1	G	A	1: 128,341,427 (GRCm39)	R63C	probably damaging	Het
Dcun1d4	A	G	5: 73,677,572 (GRCm39)	S84G	probably benign	Het
Dcxr	T	C	11: 120,617,298 (GRCm39)	N82D	probably damaging	Het
Eef1a2	C	A	2: 180,790,527 (GRCm39)	K376N	possibly damaging	Het
Efhc1	G	A	1: 21,037,715 (GRCm39)	M297I	probably benign	Het
Etfb	G	T	7: 43,101,897 (GRCm39)	V64F	probably damaging	Het
Fam135b	A	C	15: 71,334,637 (GRCm39)	N852K	probably benign	Het
Gigyf2	T	C	1: 87,376,790 (GRCm39)		probably benign	Het
Gria4	T	C	9: 4,513,288 (GRCm39)	K274E	probably benign	Het
Irag1	A	T	7: 110,525,553 (GRCm39)	S200T	probably benign	Het
Itgae	A	G	11: 73,006,400 (GRCm39)	E356G	possibly damaging	Het
Med12l	C	T	3: 59,208,788 (GRCm39)	Q2139*	probably null	Het
Plxna4	A	G	6: 32,155,337 (GRCm39)	F1536L	possibly damaging	Het
Pramel19	A	T	4: 101,798,329 (GRCm39)	Q100L	probably damaging	Het
Rmnd5a	A	G	6: 71,370,119 (GRCm39)	I389T	probably damaging	Het
Rnf128	T	G	X: 138,511,985 (GRCm39)	V144G	probably damaging	Het
Rpgrip1	A	G	14: 52,378,109 (GRCm39)	T486A	possibly damaging	Het
Rps6kc1	T	C	1: 190,604,026 (GRCm39)	T199A	probably benign	Het
Skint5	T	A	4: 113,343,854 (GRCm39)	D1338V	unknown	Het
Slc35g2	A	T	9: 100,434,699 (GRCm39)	I324K	possibly damaging	Het
Slc4a5	G	A	6: 83,238,507 (GRCm39)	R225H	probably damaging	Het
Srgap3	A	T	6: 112,793,636 (GRCm39)	H113Q	probably damaging	Het
Stpg2	A	C	3: 139,014,970 (GRCm39)	K378N	possibly damaging	Het
Svep1	A	G	4: 58,066,422 (GRCm39)		probably benign	Het
Vmn2r53	T	A	7: 12,315,819 (GRCm39)	I667F	possibly damaging	Het
Wdfy3	A	G	5: 102,048,016 (GRCm39)	L1763P	probably damaging	Het
Wnt2	A	G	6: 17,989,959 (GRCm39)	Y313H	probably benign	Het
Zfp638	T	C	6: 83,923,229 (GRCm39)	S676P	probably benign	Het
Zfp747l1	A	G	7: 126,984,811 (GRCm39)		probably benign	Het

Other mutations in Utp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Utp11	APN	4	124,573,532 (GRCm39)	missense	possibly damaging	0.84
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
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

2016-08-02