Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00850:Utp11'

14751

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 #

IGL00850

Quality Score

Status

Chromosome

Chromosomal Location

124571953-124587393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124576250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 131 (K131R)

Ref Sequence

ENSEMBL: ENSMUSP00000030738 (fasta)

Gene Model

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

AlphaFold

Q9CZJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000030738
AA Change: K131R

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030738
Gene: ENSMUSG00000028907
AA Change: K131R

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand1	C	A	10: 119,047,040 (GRCm39)	V817L	probably benign	Het
Cdc16	T	G	8: 13,817,575 (GRCm39)	Y295*	probably null	Het
Cdk12	T	A	11: 98,113,491 (GRCm39)	N758K	unknown	Het
Cep295	A	G	9: 15,234,148 (GRCm39)	L2216S	probably benign	Het
Chpf2	A	G	5: 24,797,259 (GRCm39)	E735G	probably damaging	Het
Chrdl2	A	G	7: 99,683,848 (GRCm39)	T432A	probably damaging	Het
Cyp4a12b	T	A	4: 115,295,246 (GRCm39)		probably null	Het
D130043K22Rik	T	G	13: 25,051,157 (GRCm39)	D464E	probably damaging	Het
Dst	G	T	1: 34,345,705 (GRCm39)	A7622S	probably damaging	Het
Fdx1	A	T	9: 51,859,949 (GRCm39)	I127N	probably damaging	Het
Fem1a	A	G	17: 56,565,355 (GRCm39)	I483V	possibly damaging	Het
Gcc2	C	A	10: 58,094,070 (GRCm39)	D51E	probably benign	Het
Glrb	A	G	3: 80,769,088 (GRCm39)	S178P	probably damaging	Het
Inpp4b	A	G	8: 82,583,379 (GRCm39)	Q161R	probably damaging	Het
Lrrc45	T	C	11: 120,611,436 (GRCm39)		probably benign	Het
Myh3	T	C	11: 66,981,681 (GRCm39)	Y757H	probably damaging	Het
Myo1h	A	C	5: 114,453,132 (GRCm39)		probably benign	Het
Nudt13	T	A	14: 20,356,418 (GRCm39)	S114R	probably damaging	Het
Omg	T	C	11: 79,393,540 (GRCm39)	N106S	possibly damaging	Het
Pbrm1	T	C	14: 30,809,576 (GRCm39)	V1163A	probably damaging	Het
Pi4k2b	T	A	5: 52,918,292 (GRCm39)	Y350*	probably null	Het
Prr29	C	A	11: 106,266,033 (GRCm39)	T32K	possibly damaging	Het
Psd4	C	T	2: 24,284,298 (GRCm39)	A54V	probably benign	Het
Scd3	A	G	19: 44,224,247 (GRCm39)	H160R	probably damaging	Het
Shroom3	T	C	5: 93,098,924 (GRCm39)	L1387P	probably damaging	Het
Stk35	A	G	2: 129,643,912 (GRCm39)	T299A	probably damaging	Het
Thsd7b	G	A	1: 130,092,814 (GRCm39)	S1238N	probably benign	Het
Vps50	C	T	6: 3,532,177 (GRCm39)	Q227*	probably null	Het
Zan	T	C	5: 137,462,375 (GRCm39)	T935A	unknown	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
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