Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02960:Utp15'

365317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp15

Ensembl Gene

ENSMUSG00000041747

Gene Name

UTP15 small subunit processome component

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL02960

Quality Score

Status

Chromosome

Chromosomal Location

98383353-98399500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98389389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 303 (T303M)

Ref Sequence

ENSEMBL: ENSMUSP00000048204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040972]

AlphaFold

Q8C7V3

Predicted Effect

probably benign
Transcript: ENSMUST00000040972
AA Change: T303M

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048204
Gene: ENSMUSG00000041747
AA Change: T303M

Domain	Start	End	E-Value	Type
WD40	31	66	6.85e1	SMART
WD40	69	108	1.66e-5	SMART
WD40	111	150	2.82e-8	SMART
WD40	153	193	7.33e-7	SMART
WD40	196	233	3.9e-2	SMART
WD40	237	276	1.39e-7	SMART
WD40	279	317	1.7e2	SMART
Pfam:UTP15_C	343	490	3.5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225100

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,257 (GRCm39)	R14C	probably benign	Het
Adam29	A	T	8: 56,325,701 (GRCm39)	L251*	probably null	Het
Atpaf2	T	C	11: 60,296,650 (GRCm39)	E161G	probably damaging	Het
Brwd1	T	C	16: 95,858,666 (GRCm39)	D381G	probably damaging	Het
Cept1	T	A	3: 106,446,712 (GRCm39)	R45*	probably null	Het
Col3a1	A	G	1: 45,367,615 (GRCm39)	E273G	unknown	Het
Cuzd1	T	C	7: 130,921,832 (GRCm39)	N57D	probably benign	Het
Cyp2b13	A	G	7: 25,761,101 (GRCm39)	K53E	probably benign	Het
Fadd	T	C	7: 144,134,276 (GRCm39)	E203G	probably benign	Het
Gm3159	G	A	14: 4,400,552 (GRCm38)		probably null	Het
Gpr137c	T	C	14: 45,483,890 (GRCm39)	F206L	possibly damaging	Het
Hephl1	G	T	9: 14,995,615 (GRCm39)	T471N	probably damaging	Het
Ido1	A	T	8: 25,083,345 (GRCm39)		probably benign	Het
Krt40	C	T	11: 99,430,693 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,285,797 (GRCm39)		probably benign	Het
Lrrc8a	T	A	2: 30,147,025 (GRCm39)	L613H	probably damaging	Het
Mettl14	A	G	3: 123,168,534 (GRCm39)	Y169H	probably damaging	Het
Nlrp4a	A	G	7: 26,149,155 (GRCm39)	Q254R	probably benign	Het
Or4c15	A	C	2: 88,760,128 (GRCm39)	M177R	possibly damaging	Het
Or7c70	A	T	10: 78,683,371 (GRCm39)	I126N	probably damaging	Het
Pira12	T	C	7: 3,900,078 (GRCm39)	T175A	possibly damaging	Het
Pkhd1	A	T	1: 20,447,670 (GRCm39)	M2241K	possibly damaging	Het
Ptprd	G	A	4: 76,047,105 (GRCm39)	S387L	probably damaging	Het
Ryr1	A	C	7: 28,759,478 (GRCm39)	L3264R	probably damaging	Het
Serpina16	G	A	12: 103,641,638 (GRCm39)	T29I	probably benign	Het
Slc9a7	A	G	X: 20,052,382 (GRCm39)	M237T	probably benign	Het
Tbck	A	G	3: 132,428,544 (GRCm39)	T300A	probably benign	Het
Tcaf1	A	C	6: 42,663,393 (GRCm39)	D162E	probably benign	Het
Unc80	G	A	1: 66,717,217 (GRCm39)		probably benign	Het
Usp17le	A	C	7: 104,417,947 (GRCm39)	H398Q	probably benign	Het
Vmn2r86	A	C	10: 130,289,636 (GRCm39)	D86E	possibly damaging	Het
Zmym2	T	A	14: 57,175,870 (GRCm39)	C822S	probably benign	Het
Zp3r	T	C	1: 130,511,175 (GRCm39)	D336G	possibly damaging	Het
Zpr1	A	G	9: 46,184,849 (GRCm39)	H82R	probably damaging	Het

Other mutations in Utp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02951:Utp15	APN	13	98,394,460 (GRCm39)	missense	probably damaging	1.00
IGL03271:Utp15	APN	13	98,390,202 (GRCm39)	missense	probably damaging	1.00
R0125:Utp15	UTSW	13	98,387,390 (GRCm39)	missense	possibly damaging	0.81
R0679:Utp15	UTSW	13	98,395,911 (GRCm39)	missense	probably benign	0.13
R1447:Utp15	UTSW	13	98,389,386 (GRCm39)	missense	possibly damaging	0.68
R1618:Utp15	UTSW	13	98,393,695 (GRCm39)	missense	probably benign	0.16
R1992:Utp15	UTSW	13	98,387,420 (GRCm39)	missense	probably benign
R2110:Utp15	UTSW	13	98,391,493 (GRCm39)	missense	probably damaging	1.00
R2263:Utp15	UTSW	13	98,394,433 (GRCm39)	missense	probably benign	0.03
R3888:Utp15	UTSW	13	98,395,674 (GRCm39)	missense	probably benign	0.00
R4355:Utp15	UTSW	13	98,395,755 (GRCm39)	missense	possibly damaging	0.48
R5436:Utp15	UTSW	13	98,397,354 (GRCm39)	splice site	probably null
R5568:Utp15	UTSW	13	98,394,433 (GRCm39)	missense	probably benign	0.03
R6489:Utp15	UTSW	13	98,387,117 (GRCm39)	missense	probably damaging	0.96
R8116:Utp15	UTSW	13	98,387,371 (GRCm39)	missense	probably benign
R8360:Utp15	UTSW	13	98,391,499 (GRCm39)	missense	probably damaging	1.00
R9049:Utp15	UTSW	13	98,395,778 (GRCm39)	missense	probably damaging	1.00
R9370:Utp15	UTSW	13	98,387,119 (GRCm39)	missense	probably damaging	0.96
R9654:Utp15	UTSW	13	98,385,668 (GRCm39)	missense	probably benign

Posted On

2015-12-18