Mutagenetix > Incidental Mutation

Incidental Mutation 'R6006:Utp18'

479494

Institutional Source

Beutler Lab

Gene Symbol

Utp18

Ensembl Gene

ENSMUSG00000054079

Gene Name

UTP18 small subunit processome component

Synonyms

Wdr50, 6230425C22Rik

MMRRC Submission

044183-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6006 (G1)

Quality Score

104.008

Status

Not validated

Chromosome

Chromosomal Location

93750069-93776592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93776449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

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: D12G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: D12G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145354

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,804 (GRCm39)	I296T	probably benign	Het
Abcb4	C	A	5: 8,996,026 (GRCm39)	T894K	probably damaging	Het
Acad12	C	T	5: 121,737,299 (GRCm39)	V491I	possibly damaging	Het
Actr8	T	A	14: 29,706,099 (GRCm39)		probably null	Het
Adam7	A	C	14: 68,748,845 (GRCm39)	D467E	probably damaging	Het
Adamts18	A	T	8: 114,433,606 (GRCm39)	C1043S	probably damaging	Het
Adgrb3	T	G	1: 25,865,612 (GRCm39)	D77A	possibly damaging	Het
Arhgap20	T	A	9: 51,761,426 (GRCm39)	D1056E	probably benign	Het
Bco1	A	G	8: 117,840,330 (GRCm39)		probably null	Het
Btn2a2	A	T	13: 23,670,533 (GRCm39)	W67R	probably damaging	Het
Camkmt	A	T	17: 85,759,666 (GRCm39)	N269Y	possibly damaging	Het
Cand1	A	G	10: 119,045,933 (GRCm39)	F991L	possibly damaging	Het
Cchcr1	A	G	17: 35,835,597 (GRCm39)	K234E	possibly damaging	Het
Cd14	T	C	18: 36,859,335 (GRCm39)	D40G	possibly damaging	Het
Cdc73	A	T	1: 143,493,177 (GRCm39)	F386I	probably damaging	Het
Cdk14	C	T	5: 5,299,211 (GRCm39)	M1I	probably null	Het
Cnpy3	A	C	17: 47,047,790 (GRCm39)	S220A	probably benign	Het
Col22a1	A	G	15: 71,845,685 (GRCm39)	V359A	probably damaging	Het
Col6a3	C	A	1: 90,696,105 (GRCm39)	C2654F	unknown	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cpsf4l	A	G	11: 113,590,753 (GRCm39)	V199A	probably benign	Het
Dhtkd1	G	A	2: 5,908,836 (GRCm39)	Q753*	probably null	Het
Ep400	A	G	5: 110,852,825 (GRCm39)	S1307P	unknown	Het
Fer1l6	T	C	15: 58,518,893 (GRCm39)	V1675A	probably damaging	Het
Glis1	T	C	4: 107,425,103 (GRCm39)	L238P	probably damaging	Het
Ift70a1	A	G	2: 75,811,832 (GRCm39)	Y84H	probably benign	Het
Iqgap3	T	A	3: 87,998,854 (GRCm39)	D318E	probably damaging	Het
Lats1	T	C	10: 7,581,359 (GRCm39)	F715L	probably damaging	Het
Mlxip	T	C	5: 123,583,721 (GRCm39)	F428S	possibly damaging	Het
Morc3	T	G	16: 93,663,381 (GRCm39)	I528R	possibly damaging	Het
Mtx1	C	T	3: 89,117,613 (GRCm39)	G60D	probably damaging	Het
Mug2	G	C	6: 122,060,459 (GRCm39)	Q1398H	probably null	Het
Mup8	T	C	4: 60,220,403 (GRCm39)	I110V	probably benign	Het
Nfkb1	A	T	3: 135,309,522 (GRCm39)	L12*	probably null	Het
Numa1	G	A	7: 101,641,926 (GRCm39)		probably null	Het
Or52e18	T	G	7: 104,609,870 (GRCm39)	E23A	probably damaging	Het
Pbk	C	T	14: 66,054,094 (GRCm39)	P213L	probably damaging	Het
Pdcd1lg2	T	A	19: 29,431,905 (GRCm39)	H224Q	possibly damaging	Het
Pkp1	C	G	1: 135,805,406 (GRCm39)		probably null	Het
Rela	A	G	19: 5,689,967 (GRCm39)	N139S	probably damaging	Het
Rgs3	G	A	4: 62,542,143 (GRCm39)	R39Q	probably damaging	Het
S1pr3	A	G	13: 51,573,731 (GRCm39)	E304G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Setmar	T	C	6: 108,053,387 (GRCm39)	S294P	possibly damaging	Het
Smc2	A	G	4: 52,459,024 (GRCm39)	N473S	probably benign	Het
Ssr1	TCTCTTTC	T	13: 38,169,972 (GRCm39)		probably null	Het
Tigd2	A	G	6: 59,187,762 (GRCm39)	I210V	possibly damaging	Het
Tmprss9	T	A	10: 80,719,555 (GRCm39)	F93L	possibly damaging	Het
U2surp	T	C	9: 95,361,360 (GRCm39)	Y633C	probably damaging	Het
Usp18	A	T	6: 121,239,781 (GRCm39)	E292V	possibly damaging	Het
Usp32	A	C	11: 84,883,277 (GRCm39)		probably null	Het
Vmn1r216	C	A	13: 23,283,928 (GRCm39)	H204N	probably benign	Het
Wdr97	T	C	15: 76,241,372 (GRCm39)	V626A	probably damaging	Het
Wwc1	A	T	11: 35,761,809 (GRCm39)	V619E	probably null	Het
Wwc1	T	C	11: 35,780,100 (GRCm39)	D285G	probably damaging	Het
Zfp3	A	T	11: 70,662,590 (GRCm39)	Q183L	probably benign	Het
Zfp955a	A	G	17: 33,460,660 (GRCm39)	C491R	probably 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
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'- TTATCGTCCTCTAGCGTCAGG -3'
(R):5'- TGTTGCCTCCGAGAAGTTG -3'

Sequencing Primer
(F):5'- TCTAGCGTCAGGCGGTTCCGCTGCCG -3'
(R):5'- AAGATCGGCCTTCCCTGAG -3'

Posted On

2017-06-26