Mutagenetix > Incidental Mutation

Incidental Mutation 'R4427:Utp18'

328244

Institutional Source

Beutler Lab

Gene Symbol

Utp18

Ensembl Gene

ENSMUSG00000054079

Gene Name

UTP18 small subunit processome component

Synonyms

Wdr50, 6230425C22Rik

MMRRC Submission

041145-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93750069-93776592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93757264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 467 (N467D)

Ref Sequence

ENSEMBL: ENSMUSP00000068103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066888]

AlphaFold

Q5SSI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066888
AA Change: N467D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: N467D

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

noncoding transcript
Transcript: ENSMUST00000130797

Meta Mutation Damage Score

0.5959

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,278,678 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,522,009 (GRCm39)	E1271G	probably benign	Het
Ccdc88b	C	T	19: 6,827,940 (GRCm39)	E878K	probably damaging	Het
Cfap119	A	G	7: 127,187,288 (GRCm39)		probably benign	Het
Crybg3	T	C	16: 59,363,562 (GRCm39)	K2441E	probably damaging	Het
Cryga	A	T	1: 65,139,775 (GRCm39)	I121N	probably damaging	Het
Dst	A	T	1: 34,220,541 (GRCm39)	Q2115L	probably benign	Het
Evi2	T	A	11: 79,407,182 (GRCm39)	Q131L	possibly damaging	Het
Exoc1	A	G	5: 76,711,110 (GRCm39)	I61V	probably benign	Het
Firrm	A	G	1: 163,781,853 (GRCm39)	V858A	probably benign	Het
Frem2	A	G	3: 53,446,583 (GRCm39)		probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Gsto2	T	C	19: 47,860,212 (GRCm39)	S2P	possibly damaging	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Kcnd2	T	A	6: 21,216,896 (GRCm39)	I200N	probably damaging	Het
Klhl30	A	G	1: 91,281,426 (GRCm39)	D9G	probably damaging	Het
Ltf	C	A	9: 110,852,672 (GRCm39)	T178K	probably damaging	Het
Memo1	T	A	17: 74,509,302 (GRCm39)	Y239F	probably benign	Het
Ogdh	C	T	11: 6,305,421 (GRCm39)	T972I	probably benign	Het
Phactr4	T	C	4: 132,114,352 (GRCm39)	D24G	possibly damaging	Het
Pi4ka	C	T	16: 17,098,908 (GRCm39)	R1992H	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Pwwp2a	T	C	11: 43,573,344 (GRCm39)	V142A	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rcsd1	C	A	1: 165,483,464 (GRCm39)	V206L	probably damaging	Het
Rps6ka2	T	A	17: 7,566,804 (GRCm39)	D687E	possibly damaging	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Siglec15	T	G	18: 78,086,836 (GRCm39)	E341A	possibly damaging	Het
Tcaim	T	C	9: 122,643,561 (GRCm39)	F87S	probably benign	Het
Thbs2	C	A	17: 14,900,597 (GRCm39)	V537L	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmx3	T	A	18: 90,541,725 (GRCm39)	V158D	probably damaging	Het
Tpm1	A	G	9: 66,939,847 (GRCm39)		probably benign	Het
Trmt2a	A	G	16: 18,067,093 (GRCm39)		probably benign	Het
Ugcg	T	A	4: 59,219,555 (GRCm39)	F297L	probably benign	Het
Vmn2r73	A	G	7: 85,506,981 (GRCm39)	F777S	probably damaging	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp300	C	T	X: 20,949,405 (GRCm39)	V120I	possibly damaging	Het
Zfp982	A	T	4: 147,597,080 (GRCm39)	R146*	probably null	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
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
R7211:Utp18	UTSW	11	93,776,206 (GRCm39)	missense	probably benign	0.01
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'- AGCCACACACTACTATTCTGTTATCAC -3'
(R):5'- TACAATTGAAAAGCTGCTCGGC -3'

Sequencing Primer
(F):5'- GTTATCACTCACTGTTTTAACATGAC -3'
(R):5'- GTCTCCGCGTTGAATTCTTCAG -3'

Posted On

2015-07-07