Mutagenetix > Incidental Mutation

Incidental Mutation 'R7211:Utp18'

561090

Institutional Source

Beutler Lab

Gene Symbol

Utp18

Ensembl Gene

ENSMUSG00000054079

Gene Name

UTP18 small subunit processome component

Synonyms

Wdr50, 6230425C22Rik

MMRRC Submission

045339-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7211 (G1)

Quality Score

140.008

Status

Validated

Chromosome

Chromosomal Location

93750069-93776592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93776206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 93 (V93A)

Ref Sequence

ENSEMBL: ENSMUSP00000068103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063645] [ENSMUST00000063718] [ENSMUST00000066888] [ENSMUST00000107850] [ENSMUST00000107853] [ENSMUST00000107854]

AlphaFold

Q5SSI6

Predicted Effect

probably benign
Transcript: ENSMUST00000063645

SMART Domains

Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
PDB:2W0T\|A	52	74	7e-6	PDB
low complexity region	75	90	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
MBT	144	248	3.11e-22	SMART
MBT	256	357	1.28e-41	SMART
MBT	361	459	1.61e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063718

SMART Domains

Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474

Domain	Start	End	E-Value	Type
low complexity region	29	46	N/A	INTRINSIC
PDB:2W0T\|A	74	96	7e-6	PDB
low complexity region	97	112	N/A	INTRINSIC
low complexity region	136	152	N/A	INTRINSIC
MBT	166	270	3.11e-22	SMART
MBT	278	379	1.28e-41	SMART
MBT	383	481	1.61e-38	SMART
MBT	489	585	4.11e-54	SMART
low complexity region	586	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066888
AA Change: V93A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: V93A

Domain	Start	End	E-Value	Type
low complexity region	43	64	N/A	INTRINSIC
low complexity region	100	111	N/A	INTRINSIC
low complexity region	139	146	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
WD40	236	275	7.4e0	SMART
WD40	280	320	3.08e0	SMART
Blast:WD40	325	365	4e-17	BLAST
WD40	368	406	2.23e-1	SMART
WD40	409	449	1.78e0	SMART
WD40	458	499	2.05e1	SMART
WD40	510	545	7.92e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107850

SMART Domains

Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
Blast:MBT	25	52	2e-9	BLAST
PDB:2W0T\|A	52	74	2e-6	PDB
low complexity region	75	90	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
PDB:4C5I\|B	131	201	5e-37	PDB
Blast:MBT	144	201	1e-35	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000107853

SMART Domains

Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
PDB:2W0T\|A	52	74	1e-6	PDB
low complexity region	75	90	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
MBT	144	248	1.2e-24	SMART
MBT	256	357	4.8e-44	SMART
MBT	361	459	6.1e-41	SMART
MBT	467	563	1.6e-56	SMART
low complexity region	564	592	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107854

SMART Domains

Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
PDB:2W0T\|A	52	74	1e-6	PDB
low complexity region	75	90	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
MBT	144	248	1.2e-24	SMART
MBT	256	357	4.9e-44	SMART
MBT	361	459	6.2e-41	SMART
MBT	467	563	1.6e-56	SMART
low complexity region	564	592	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	A	2: 154,887,699 (GRCm39)	V53E	probably damaging	Het
A1cf	A	G	19: 31,904,541 (GRCm39)	Y268C	probably benign	Het
Adam34l	T	A	8: 44,078,914 (GRCm39)	S437C	probably damaging	Het
Adamts13	C	T	2: 26,879,310 (GRCm39)	T621I	probably benign	Het
Akr1b7	A	T	6: 34,398,049 (GRCm39)	N293Y	probably benign	Het
Angpt2	T	A	8: 18,791,147 (GRCm39)	T50S	probably benign	Het
Anks1b	C	A	10: 90,346,932 (GRCm39)	A744D	possibly damaging	Het
Aqr	A	G	2: 113,965,204 (GRCm39)	V587A	probably benign	Het
Atm	A	G	9: 53,399,860 (GRCm39)	V1540A	probably benign	Het
Brd10	A	G	19: 29,763,712 (GRCm39)	F121S		Het
C4b	A	G	17: 34,954,508 (GRCm39)	V887A	possibly damaging	Het
Cd200r1	A	G	16: 44,609,120 (GRCm39)	T26A	probably benign	Het
Ciao1	A	G	2: 127,088,928 (GRCm39)		probably null	Het
Clba1	T	A	12: 112,774,632 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,519,775 (GRCm39)	C200R	probably benign	Het
Col6a5	T	A	9: 105,805,363 (GRCm39)	Q1181L	unknown	Het
Copb2	T	A	9: 98,456,198 (GRCm39)	I244N	probably damaging	Het
Cpb2	A	G	14: 75,512,430 (GRCm39)	Y281C	probably damaging	Het
Disp3	C	A	4: 148,325,979 (GRCm39)	V1260F	probably damaging	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Dpysl2	T	C	14: 67,067,425 (GRCm39)	N162S	probably damaging	Het
Dsp	T	A	13: 38,372,511 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,941 (GRCm39)		probably null	Het
Efcab3	C	A	11: 104,601,539 (GRCm39)	A284D	probably benign	Het
Efcab3	G	T	11: 104,615,435 (GRCm39)		probably null	Het
Epm2a	T	C	10: 11,219,419 (GRCm39)	Y69H	probably benign	Het
Frzb	C	A	2: 80,248,669 (GRCm39)	E262*	probably null	Het
Gaa	T	C	11: 119,175,030 (GRCm39)	V877A	possibly damaging	Het
Gpnmb	T	C	6: 49,028,949 (GRCm39)	I489T	possibly damaging	Het
Gpr31b	T	C	17: 13,271,104 (GRCm39)	T22A	probably benign	Het
Gys1	T	A	7: 45,097,684 (GRCm39)	F477Y	possibly damaging	Het
Hoxc11	A	C	15: 102,863,487 (GRCm39)	E176A	possibly damaging	Het
Kcnk13	T	A	12: 100,028,076 (GRCm39)	F384I	probably damaging	Het
Ky	A	G	9: 102,386,349 (GRCm39)	E59G	probably benign	Het
Lama4	T	A	10: 38,881,491 (GRCm39)	D93E	probably damaging	Het
Lrrc23	A	T	6: 124,755,152 (GRCm39)	N128K	probably benign	Het
Lrrc71	G	T	3: 87,650,633 (GRCm39)	Q210K	possibly damaging	Het
Map1a	G	A	2: 121,135,124 (GRCm39)	R1980H	probably benign	Het
Med15	T	C	16: 17,515,977 (GRCm39)	D15G	unknown	Het
Mfng	A	T	15: 78,657,268 (GRCm39)	S69T	probably benign	Het
Muc16	T	G	9: 18,409,866 (GRCm39)	S181R	probably damaging	Het
Mug1	A	T	6: 121,857,498 (GRCm39)	Q1074L	possibly damaging	Het
Myorg	A	G	4: 41,498,028 (GRCm39)	I534T	probably damaging	Het
Nbea	T	A	3: 55,912,322 (GRCm39)	N1155I	probably benign	Het
Nbeal1	T	G	1: 60,240,110 (GRCm39)	L159V	probably damaging	Het
Nudt1	C	A	5: 140,323,402 (GRCm39)	P118Q	possibly damaging	Het
Or2q1	A	T	6: 42,794,950 (GRCm39)	T182S	probably benign	Het
Or8g37	A	C	9: 39,731,154 (GRCm39)	Q73P	possibly damaging	Het
Pcdhga6	T	A	18: 37,842,173 (GRCm39)	V631D	probably benign	Het
Pcna	A	C	2: 132,091,792 (GRCm39)	V203G	probably damaging	Het
Pgf	G	T	12: 85,222,549 (GRCm39)	N33K	probably benign	Het
Pgm2	T	C	5: 64,263,193 (GRCm39)	L280P	probably damaging	Het
Plcg1	G	A	2: 160,573,794 (GRCm39)	A20T	probably benign	Het
Pou2af2	G	T	9: 51,201,733 (GRCm39)	Q108K	probably damaging	Het
Prdx5	G	T	19: 6,884,958 (GRCm39)	D126E	probably damaging	Het
Prkag2	T	C	5: 25,200,296 (GRCm39)	T20A	probably benign	Het
Prr14l	T	A	5: 32,987,431 (GRCm39)	Q688L	probably damaging	Het
Pxdn	T	G	12: 30,034,903 (GRCm39)	D253E	possibly damaging	Het
Rbm18	A	T	2: 36,012,905 (GRCm39)	C53*	probably null	Het
Rprm	A	T	2: 53,975,270 (GRCm39)	L16Q	probably benign	Het
Saysd1	A	G	14: 20,127,576 (GRCm39)	F116S	probably damaging	Het
Scg3	A	G	9: 75,589,366 (GRCm39)	S96P	probably benign	Het
Scgb1b3	C	T	7: 31,075,078 (GRCm39)	L16F	unknown	Het
Sh3tc2	A	G	18: 62,122,474 (GRCm39)	T412A	probably benign	Het
Skint6	T	C	4: 113,095,566 (GRCm39)	N31S	probably benign	Het
Slc22a2	T	C	17: 12,805,770 (GRCm39)		probably null	Het
Slc8a2	C	T	7: 15,874,538 (GRCm39)	T262I	possibly damaging	Het
Smarcc1	A	T	9: 109,979,082 (GRCm39)	K188N	probably damaging	Het
Taf6	T	C	5: 138,177,088 (GRCm39)	T660A	possibly damaging	Het
Tbx2	C	T	11: 85,725,540 (GRCm39)	R164C	probably damaging	Het
Tec	T	C	5: 72,939,355 (GRCm39)	D220G	probably null	Het
Tfec	A	T	6: 16,867,464 (GRCm39)	W59R	probably damaging	Het
Tmtc2	G	T	10: 105,409,587 (GRCm39)	S8R	probably benign	Het
Tmtc3	A	T	10: 100,283,467 (GRCm39)	M696K	probably benign	Het
Trpc3	A	T	3: 36,694,882 (GRCm39)	S691T	possibly damaging	Het
Ttf2	A	T	3: 100,866,623 (GRCm39)	M503K	probably benign	Het
Ttll7	A	G	3: 146,619,031 (GRCm39)	H312R	probably damaging	Het
Ttn	T	C	2: 76,598,032 (GRCm39)	Y19627C	probably damaging	Het
Ugt2b35	T	C	5: 87,149,177 (GRCm39)	S143P	probably benign	Het
Usp53	A	G	3: 122,751,299 (GRCm39)	S253P	probably damaging	Het
Utrn	T	C	10: 12,277,079 (GRCm39)	N3413D	possibly damaging	Het
Zhx1	T	C	15: 57,916,647 (GRCm39)	D533G	possibly damaging	Het

Other mutations in Utp18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Utp18	APN	11	93,760,674 (GRCm39)	missense	possibly damaging	0.95
IGL02061:Utp18	APN	11	93,772,967 (GRCm39)	missense	probably benign	0.05
IGL02402:Utp18	APN	11	93,774,617 (GRCm39)	unclassified	probably benign
IGL02552:Utp18	APN	11	93,759,160 (GRCm39)	missense	probably damaging	0.97
IGL03086:Utp18	APN	11	93,766,882 (GRCm39)	missense	probably damaging	1.00
IGL03090:Utp18	APN	11	93,759,245 (GRCm39)	missense	probably damaging	1.00
IGL03281:Utp18	APN	11	93,766,784 (GRCm39)	missense	probably damaging	1.00
R0042:Utp18	UTSW	11	93,766,684 (GRCm39)	missense	probably damaging	0.99
R0281:Utp18	UTSW	11	93,773,003 (GRCm39)	unclassified	probably benign
R0399:Utp18	UTSW	11	93,770,973 (GRCm39)	splice site	probably benign
R0543:Utp18	UTSW	11	93,766,661 (GRCm39)	missense	probably damaging	1.00
R1512:Utp18	UTSW	11	93,776,390 (GRCm39)	missense	probably benign	0.00
R1674:Utp18	UTSW	11	93,766,879 (GRCm39)	critical splice donor site	probably null
R2013:Utp18	UTSW	11	93,766,948 (GRCm39)	missense	possibly damaging	0.91
R4426:Utp18	UTSW	11	93,757,264 (GRCm39)	missense	probably damaging	1.00
R4427:Utp18	UTSW	11	93,757,264 (GRCm39)	missense	probably damaging	1.00
R4455:Utp18	UTSW	11	93,776,273 (GRCm39)	missense	probably benign	0.09
R4458:Utp18	UTSW	11	93,761,359 (GRCm39)	missense	possibly damaging	0.92
R5085:Utp18	UTSW	11	93,761,363 (GRCm39)	missense	possibly damaging	0.78
R5297:Utp18	UTSW	11	93,766,915 (GRCm39)	missense	probably damaging	0.99
R5321:Utp18	UTSW	11	93,757,260 (GRCm39)	missense	probably damaging	1.00
R6006:Utp18	UTSW	11	93,776,449 (GRCm39)	missense	probably benign	0.00
R6845:Utp18	UTSW	11	93,776,582 (GRCm39)	unclassified	probably benign
R7330:Utp18	UTSW	11	93,772,899 (GRCm39)	critical splice donor site	probably null
R8193:Utp18	UTSW	11	93,766,903 (GRCm39)	missense	probably damaging	1.00
R9523:Utp18	UTSW	11	93,768,833 (GRCm39)	missense	probably damaging	1.00
RF015:Utp18	UTSW	11	93,776,287 (GRCm39)	missense	probably damaging	1.00
Z1177:Utp18	UTSW	11	93,766,647 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACTTTGCAGACATCCTTTGG -3'
(R):5'- GTTCATCCCAACGGACACAG -3'

Sequencing Primer
(F):5'- TTGCAGACATCCTTTGGCAAAC -3'
(R):5'- CAACGGACACAGCCGGC -3'

Posted On

2019-06-26