Mutagenetix > Incidental Mutation

Incidental Mutation 'R5297:Utp18'

405500

Institutional Source

Beutler Lab

Gene Symbol

Utp18

Ensembl Gene

ENSMUSG00000054079

Gene Name

UTP18 small subunit processome component

Synonyms

6230425C22Rik, Wdr50

MMRRC Submission

042880-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93859243-93885766 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93876089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 264 (V264D)

Ref Sequence

ENSEMBL: ENSMUSP00000068103 (fasta)

Gene Model

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

AlphaFold

Q5SSI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066888
AA Change: V264D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: V264D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134807

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,587,458	A135S	probably benign	Het
Agbl4	A	G	4: 111,566,698	K307R	possibly damaging	Het
AI481877	A	G	4: 59,047,543	W1359R	probably benign	Het
Akna	T	C	4: 63,381,846	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,121,888	Y273H	probably damaging	Het
Atg14	G	A	14: 47,568,199	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,591,127	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,742,361	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345	N132Y	probably damaging	Het
Casp6	T	C	3: 129,910,555	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,285,370	N296S	possibly damaging	Het
Col6a4	T	C	9: 106,074,867	K611E	probably benign	Het
Copa	A	G	1: 172,113,108	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,312,204	N283K	probably benign	Het
Dcc	C	T	18: 71,378,738	V869I	probably benign	Het
Efemp1	G	T	11: 28,867,868	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,460,553	E373G	probably benign	Het
Fbxo9	T	C	9: 78,086,279	T318A	probably benign	Het
Gipr	A	G	7: 19,157,544	W403R	probably damaging	Het
Gm10093	A	G	17: 78,492,758	S393G	probably benign	Het
Gm12794	T	A	4: 101,941,151	D106E	possibly damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Golgb1	G	A	16: 36,875,616		probably benign	Het
Herc3	T	C	6: 58,856,641	L171P	probably damaging	Het
Il5ra	A	G	6: 106,738,134	I221T	probably benign	Het
Itgb2	A	G	10: 77,564,667	I705V	probably damaging	Het
Map4k4	G	T	1: 39,962,217	V55F	probably damaging	Het
Mast1	A	G	8: 84,913,318		probably null	Het
Mitf	G	T	6: 97,994,430	G186V	probably benign	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Nrcam	T	C	12: 44,544,784	F204L	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1111	T	C	2: 87,150,449	I71V	probably benign	Het
Olfr1510	A	G	14: 52,410,218	L218P	probably damaging	Het
Olfr248	A	G	1: 174,391,200	M44V	probably benign	Het
Olfr381	A	T	11: 73,486,389	V145E	probably damaging	Het
Olfr446	T	C	6: 42,927,437	S69P	probably benign	Het
Olfr503	A	T	7: 108,545,404	N291I	probably damaging	Het
Pclo	A	T	5: 14,676,249		probably benign	Het
Pik3ca	T	A	3: 32,450,053	Y631N	probably damaging	Het
Ptk2b	T	C	14: 66,172,517	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,778	S427P	probably damaging	Het
Scn3a	T	A	2: 65,469,034	Y1376F	possibly damaging	Het
Spem1	A	G	11: 69,820,927	Y304H	probably damaging	Het
Stk38l	C	A	6: 146,775,655	Y450*	probably null	Het
Stx19	A	G	16: 62,821,974	E51G	probably damaging	Het
Ttc41	C	G	10: 86,776,579	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,281,340	R229H	probably damaging	Het
V1rd19	T	C	7: 24,003,289	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,871,290	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,191,939	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,061,873	F802L	probably damaging	Het
Vmn2r61	A	G	7: 42,260,222	D57G	probably benign	Het
Vps13c	A	G	9: 67,878,131	N260S	probably damaging	Het
Xirp1	C	A	9: 120,019,602	A72S	probably damaging	Het
Zfp212	T	C	6: 47,929,077	V190A	probably benign	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Utp18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Utp18	APN	11	93869848	missense	possibly damaging	0.95
IGL02061:Utp18	APN	11	93882141	missense	probably benign	0.05
IGL02402:Utp18	APN	11	93883791	unclassified	probably benign
IGL02552:Utp18	APN	11	93868334	missense	probably damaging	0.97
IGL03086:Utp18	APN	11	93876056	missense	probably damaging	1.00
IGL03090:Utp18	APN	11	93868419	missense	probably damaging	1.00
IGL03281:Utp18	APN	11	93875958	missense	probably damaging	1.00
R0042:Utp18	UTSW	11	93875858	missense	probably damaging	0.99
R0281:Utp18	UTSW	11	93882177	unclassified	probably benign
R0399:Utp18	UTSW	11	93880147	splice site	probably benign
R0543:Utp18	UTSW	11	93875835	missense	probably damaging	1.00
R1512:Utp18	UTSW	11	93885564	missense	probably benign	0.00
R1674:Utp18	UTSW	11	93876053	critical splice donor site	probably null
R2013:Utp18	UTSW	11	93876122	missense	possibly damaging	0.91
R4426:Utp18	UTSW	11	93866438	missense	probably damaging	1.00
R4427:Utp18	UTSW	11	93866438	missense	probably damaging	1.00
R4455:Utp18	UTSW	11	93885447	missense	probably benign	0.09
R4458:Utp18	UTSW	11	93870533	missense	possibly damaging	0.92
R5085:Utp18	UTSW	11	93870537	missense	possibly damaging	0.78
R5321:Utp18	UTSW	11	93866434	missense	probably damaging	1.00
R6006:Utp18	UTSW	11	93885623	missense	probably benign	0.00
R6845:Utp18	UTSW	11	93885756	unclassified	probably benign
R7211:Utp18	UTSW	11	93885380	missense	probably benign	0.01
R7330:Utp18	UTSW	11	93882073	critical splice donor site	probably null
R8193:Utp18	UTSW	11	93876077	missense	probably damaging	1.00
R9523:Utp18	UTSW	11	93878007	missense	probably damaging	1.00
RF015:Utp18	UTSW	11	93885461	missense	probably damaging	1.00
Z1177:Utp18	UTSW	11	93875821	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAATAGATGCTCTGGATTTTAGGG -3'
(R):5'- GCCAGAGCCACAATCATCTG -3'

Sequencing Primer
(F):5'- AGGGTTTGTTTTGCCATCAACC -3'
(R):5'- TCTGATACATGACTGCTGTGAAAGG -3'

Posted On

2016-07-22