Mutagenetix > Incidental Mutation

Incidental Mutation 'R0679:Utp15'

61728

Institutional Source

Beutler Lab

Gene Symbol

Utp15

Ensembl Gene

ENSMUSG00000041747

Gene Name

UTP15 small subunit processome component

Synonyms

MMRRC Submission

038864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0679 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

98383353-98399500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98395911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 52 (Y52N)

Ref Sequence

ENSEMBL: ENSMUSP00000048204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022164] [ENSMUST00000040972] [ENSMUST00000091356] [ENSMUST00000123924] [ENSMUST00000150352] [ENSMUST00000150916] [ENSMUST00000226100]

AlphaFold

Q8C7V3

Predicted Effect

probably benign
Transcript: ENSMUST00000022164

SMART Domains

Protein: ENSMUSP00000022164
Gene: ENSMUSG00000021661

Domain	Start	End	E-Value	Type
ANK	180	209	1.45e-6	SMART
ANK	213	242	1.05e-3	SMART
ANK	246	275	1.76e-5	SMART
Blast:ANK	279	308	1e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000040972
AA Change: Y52N

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048204
Gene: ENSMUSG00000041747
AA Change: Y52N

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

probably benign
Transcript: ENSMUST00000091356

SMART Domains

Protein: ENSMUSP00000088915
Gene: ENSMUSG00000021661

Domain	Start	End	E-Value	Type
ANK	20	49	1.45e-6	SMART
ANK	53	82	1.05e-3	SMART
ANK	86	115	1.76e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123924

SMART Domains

Protein: ENSMUSP00000122701
Gene: ENSMUSG00000021661

Domain	Start	End	E-Value	Type
ANK	180	209	1.45e-6	SMART
ANK	213	242	1.05e-3	SMART
ANK	246	275	1.76e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150352

SMART Domains

Protein: ENSMUSP00000117508
Gene: ENSMUSG00000021661

Domain	Start	End	E-Value	Type
ANK	180	209	1.45e-6	SMART
ANK	213	242	1.05e-3	SMART
ANK	246	275	1.76e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150916

SMART Domains

Protein: ENSMUSP00000116590
Gene: ENSMUSG00000021661

Domain	Start	End	E-Value	Type
ANK	20	49	1.45e-6	SMART
ANK	53	82	1.05e-3	SMART
ANK	86	115	1.76e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224842

Predicted Effect

probably benign
Transcript: ENSMUST00000226100

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,942,824 (GRCm39)	D1507N	probably damaging	Het
Cplane1	G	T	15: 8,252,606 (GRCm39)	V1943L	probably benign	Het
Cry2	A	G	2: 92,244,060 (GRCm39)	I371T	probably damaging	Het
L3mbtl3	T	A	10: 26,189,831 (GRCm39)	K478*	probably null	Het
Or5h26	G	A	16: 58,987,979 (GRCm39)	H176Y	probably damaging	Het
Plcg1	C	T	2: 160,598,830 (GRCm39)	P842S	probably damaging	Het
Ros1	T	C	10: 51,942,391 (GRCm39)	R2111G	possibly damaging	Het
Sox10	A	G	15: 79,040,788 (GRCm39)	S90P	probably benign	Het
Tbc1d32	A	C	10: 56,056,672 (GRCm39)	Y423D	probably damaging	Het
Vps13b	T	G	15: 35,709,849 (GRCm39)	I1932S	possibly damaging	Het
Zfp457	A	T	13: 67,441,655 (GRCm39)	C211S	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
IGL02960:Utp15	APN	13	98,389,389 (GRCm39)	missense	probably benign	0.30
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTCACTGCCAGCAACGAGC -3'
(R):5'- ATTGTCAGCAGGGATCGTCTAGGG -3'

Sequencing Primer
(F):5'- AGTCGCACAATATGCTGTGTC -3'
(R):5'- CATCAGGCTGAGTTTTGCTTC -3'

Posted On

2013-07-30