Mutagenetix > Incidental Mutation

Incidental Mutation 'R4355:Utp15'

327512

Institutional Source

Beutler Lab

Gene Symbol

Utp15

Ensembl Gene

ENSMUSG00000041747

Gene Name

UTP15 small subunit processome component

Synonyms

MMRRC Submission

041108-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98383353-98399500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98395755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 76 (F76I)

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

possibly damaging
Transcript: ENSMUST00000040972
AA Change: F76I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048204
Gene: ENSMUSG00000041747
AA Change: F76I

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

probably benign
Transcript: ENSMUST00000226100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224842

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	G	8: 44,023,222 (GRCm39)	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,415,511 (GRCm39)	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,544,788 (GRCm39)	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,681,566 (GRCm39)	F173L	probably null	Het
Bcl3	G	T	7: 19,545,505 (GRCm39)	C208*	probably null	Het
Bmal1	A	G	7: 112,902,613 (GRCm39)	I421V	possibly damaging	Het
Casz1	T	C	4: 149,036,792 (GRCm39)	S1685P	unknown	Het
Cep250	A	G	2: 155,833,445 (GRCm39)	E1789G	probably damaging	Het
Cep76	A	T	18: 67,759,710 (GRCm39)	D334E	probably benign	Het
Clca3b	A	T	3: 144,531,219 (GRCm39)		probably null	Het
Col9a3	A	G	2: 180,248,271 (GRCm39)	S208G	probably benign	Het
Ddx47	T	C	6: 134,998,468 (GRCm39)	V388A	probably benign	Het
Dync1h1	C	T	12: 110,599,333 (GRCm39)	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 79,165,963 (GRCm39)	R411S	probably benign	Het
F7	A	G	8: 13,084,774 (GRCm39)	T267A	probably benign	Het
Fras1	C	A	5: 96,848,101 (GRCm39)	D1770E	probably benign	Het
G2e3	T	A	12: 51,412,120 (GRCm39)	Y387N	probably benign	Het
Hspg2	C	T	4: 137,256,729 (GRCm39)	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,217,260 (GRCm39)	I110M	probably benign	Het
Itgb5	T	A	16: 33,665,367 (GRCm39)	C28S	probably damaging	Het
Itprid2	A	G	2: 79,472,342 (GRCm39)	N132S	probably benign	Het
Kbtbd11	C	A	8: 15,078,578 (GRCm39)	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,309,189 (GRCm39)	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,855,036 (GRCm39)	C721Y	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klrc3	T	C	6: 129,616,125 (GRCm39)	M189V	probably benign	Het
Macf1	T	A	4: 123,368,884 (GRCm39)	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 47,848,449 (GRCm39)	G160R	possibly damaging	Het
Myb	A	G	10: 21,028,516 (GRCm39)	S116P	probably damaging	Het
Nf2	G	A	11: 4,730,613 (GRCm39)	Q513*	probably null	Het
Nmnat3	C	T	9: 98,292,205 (GRCm39)	T150M	possibly damaging	Het
Obi1	A	G	14: 104,716,693 (GRCm39)	V560A	probably benign	Het
Or11g27	T	C	14: 50,771,216 (GRCm39)	C116R	possibly damaging	Het
Or12k8	C	A	2: 36,974,942 (GRCm39)	V273F	probably benign	Het
Patj	T	G	4: 98,538,691 (GRCm39)	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,015,522 (GRCm39)	H246R	probably benign	Het
Pnp2	A	G	14: 51,197,082 (GRCm39)	H56R	probably benign	Het
Prkg1	A	G	19: 30,546,629 (GRCm39)		probably benign	Het
Rhbdf1	C	T	11: 32,166,236 (GRCm39)	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,027,556 (GRCm39)	K327E	possibly damaging	Het
Rsph6a	T	A	7: 18,801,003 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,664,698 (GRCm39)	N3535S	probably benign	Het
Ston1	T	G	17: 88,944,436 (GRCm39)	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695 (GRCm39)	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,957,144 (GRCm39)	I262N	probably benign	Het
Tmtc1	T	C	6: 148,256,596 (GRCm39)		probably benign	Het
Tshz2	G	A	2: 169,726,858 (GRCm39)	E16K	possibly damaging	Het
Ufsp2	T	A	8: 46,438,502 (GRCm39)	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,287,622 (GRCm39)	E182*	probably null	Het
Usp43	A	G	11: 67,782,290 (GRCm39)	V376A	probably benign	Het
Wdr62	A	C	7: 29,941,673 (GRCm39)	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,175,161 (GRCm39)	M18K	probably benign	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
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
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'- AGGATTCAGACAGAACTCTCAACAG -3'
(R):5'- TGCAGTGTCCAAAGTAGACTTTTCTC -3'

Sequencing Primer
(F):5'- TCAGACAGAACTCTCAACAGAAAAAC -3'
(R):5'- CCTCAGCTTCCATATAACTATGCAG -3'

Posted On

2015-07-07