Mutagenetix > Incidental Mutation

Incidental Mutation 'R2263:Utp15'

243947

Institutional Source

Beutler Lab

Gene Symbol

Utp15

Ensembl Gene

ENSMUSG00000041747

Gene Name

UTP15 small subunit processome component

Synonyms

MMRRC Submission

040263-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98383353-98399500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98394433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 153 (N153S)

Ref Sequence

ENSEMBL: ENSMUSP00000048204 (fasta)

Gene Model

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

AlphaFold

Q8C7V3

Predicted Effect

probably benign
Transcript: ENSMUST00000040972
AA Change: N153S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000048204
Gene: ENSMUSG00000041747
AA Change: N153S

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

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,224,702 (GRCm39)	S472P	probably benign	Het
Armh3	A	G	19: 45,920,788 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,737 (GRCm39)	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,654,271 (GRCm39)	R778Q	probably benign	Het
Bdp1	T	A	13: 100,202,545 (GRCm39)	D693V	probably damaging	Het
Car12	C	A	9: 66,654,913 (GRCm39)	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a1	A	G	8: 11,362,586 (GRCm39)		probably benign	Het
Cryl1	G	T	14: 57,523,865 (GRCm39)	Y232*	probably null	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,892,809 (GRCm39)	N798S	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Ehbp1	A	T	11: 22,045,462 (GRCm39)	N737K	probably benign	Het
Eif2b4	T	C	5: 31,349,918 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,755,298 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,943,138 (GRCm39)	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,228,248 (GRCm39)		probably benign	Het
Fbxl3	G	T	14: 103,320,648 (GRCm39)	Y314*	probably null	Het
Fgf12	T	A	16: 28,008,363 (GRCm39)	K84*	probably null	Het
Flt3	G	A	5: 147,284,873 (GRCm39)	P748L	probably benign	Het
Folh1	C	T	7: 86,368,973 (GRCm39)	S685N	probably benign	Het
Gpr65	A	T	12: 98,241,494 (GRCm39)	N49I	probably damaging	Het
Hdac7	A	G	15: 97,708,732 (GRCm39)		probably null	Het
Heatr5a	A	T	12: 51,962,933 (GRCm39)	V989E	probably damaging	Het
Kif12	A	G	4: 63,087,758 (GRCm39)	S242P	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Mia3	A	G	1: 183,115,647 (GRCm39)	Y295H	probably benign	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Nmur2	A	T	11: 55,920,387 (GRCm39)	V286E	probably damaging	Het
Or1ad6	G	A	11: 50,860,696 (GRCm39)	V284I	possibly damaging	Het
Or1e1	T	A	11: 73,245,131 (GRCm39)	L184Q	possibly damaging	Het
Or51t4	T	C	7: 102,598,464 (GRCm39)	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pramel31	A	G	4: 144,090,111 (GRCm39)	I384V	probably benign	Het
Prex1	A	T	2: 166,430,988 (GRCm39)		probably benign	Het
Prim1	T	A	10: 127,851,132 (GRCm39)	D5E	probably benign	Het
Rubcnl	A	T	14: 75,278,260 (GRCm39)	N348I	possibly damaging	Het
Shisa9	G	T	16: 11,802,631 (GRCm39)	A63S	possibly damaging	Het
Shpk	G	A	11: 73,097,319 (GRCm39)		probably benign	Het
Slx4ip	T	C	2: 136,885,935 (GRCm39)	I85T	probably damaging	Het
Sptbn4	T	A	7: 27,133,782 (GRCm39)	D77V	probably damaging	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Synrg	T	C	11: 83,867,978 (GRCm39)	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,695,485 (GRCm39)	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,578,888 (GRCm39)	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,132,508 (GRCm39)	A374V	probably damaging	Het
Ubqln3	A	T	7: 103,790,842 (GRCm39)	L416*	probably null	Het
Uqcrfs1	G	A	13: 30,725,090 (GRCm39)	S150L	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,327 (GRCm39)	V1477E	probably benign	Het
Wdr87-ps	T	C	7: 29,231,987 (GRCm39)		noncoding transcript	Het
Xpo1	T	A	11: 23,234,634 (GRCm39)		probably null	Het
Xpo5	A	G	17: 46,541,269 (GRCm39)	I769V	probably benign	Het
Zc3h14	A	T	12: 98,724,773 (GRCm39)	H252L	probably benign	Het
Zfp410	G	T	12: 84,369,794 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,979,297 (GRCm39)	E372G	possibly 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
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
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'- GGGCTCACTACAACCTGACATC -3'
(R):5'- AGACACTTTCTGTTTTCTGCAG -3'

Sequencing Primer
(F):5'- AGGCTAGTGCTCTACCACTAATGG -3'
(R):5'- CAGAGATGACTTCACTCAGTGAGTC -3'

Posted On

2014-10-16