Mutagenetix > Incidental Mutation

Incidental Mutation 'R7330:Utp18'

569198

Institutional Source

Beutler Lab

Gene Symbol

Utp18

Ensembl Gene

ENSMUSG00000054079

Gene Name

UTP18 small subunit processome component

Synonyms

Wdr50, 6230425C22Rik

MMRRC Submission

045423-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7330 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93750069-93776592 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 93772899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000066888

SMART Domains

Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,977,450 (GRCm39)	T411A	possibly damaging	Het
Ace	A	G	11: 105,876,887 (GRCm39)	H1123R	probably damaging	Het
Acot12	T	A	13: 91,889,651 (GRCm39)	M1K	probably null	Het
Actr2	A	T	11: 20,022,544 (GRCm39)	M309K	probably damaging	Het
Ahsa2	G	T	11: 23,440,558 (GRCm39)	T279K	probably benign	Het
Ak8	A	G	2: 28,702,947 (GRCm39)	Y437C	possibly damaging	Het
Atp1a3	T	A	7: 24,700,577 (GRCm39)	K5*	probably null	Het
Bbs2	T	A	8: 94,814,033 (GRCm39)	E195V	possibly damaging	Het
C4b	T	A	17: 34,949,446 (GRCm39)	Y1505F	probably damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Cdh18	G	A	15: 23,227,036 (GRCm39)	V166I	possibly damaging	Het
Cep135	T	A	5: 76,754,592 (GRCm39)	C356*	probably null	Het
Cilp	A	T	9: 65,187,527 (GRCm39)	R1207S	probably benign	Het
Clcnkb	A	G	4: 141,137,923 (GRCm39)	I291T	possibly damaging	Het
Clrn3	G	T	7: 135,130,198 (GRCm39)	S12Y	probably damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cpvl	A	G	6: 53,951,744 (GRCm39)	I13T	probably benign	Het
Cyp2c68	A	G	19: 39,677,634 (GRCm39)	I452T	probably damaging	Het
Dhh	A	G	15: 98,792,291 (GRCm39)	V239A	probably damaging	Het
Edar	T	G	10: 58,446,376 (GRCm39)	H183P	probably damaging	Het
Epha2	T	A	4: 141,035,764 (GRCm39)	S67T	probably benign	Het
Gapdh	A	G	6: 125,139,900 (GRCm39)	L168P	probably benign	Het
Grm4	C	T	17: 27,653,798 (GRCm39)	W717*	probably null	Het
Gtf3c1	T	C	7: 125,303,055 (GRCm39)	I127V	probably benign	Het
Igkv4-72	C	T	6: 69,204,087 (GRCm39)	A35T	probably damaging	Het
Il6st	T	A	13: 112,630,185 (GRCm39)	S344T	probably benign	Het
Ip6k1	A	G	9: 107,922,452 (GRCm39)	D168G	possibly damaging	Het
Itpr1	G	A	6: 108,415,292 (GRCm39)	R1742H	probably benign	Het
Lat2	T	A	5: 134,635,641 (GRCm39)	T58S	probably damaging	Het
Limk2	T	C	11: 3,296,311 (GRCm39)	K566E	probably benign	Het
Lonp2	C	A	8: 87,358,022 (GRCm39)	T81K	probably damaging	Het
Mdn1	C	A	4: 32,723,685 (GRCm39)	N2540K	probably benign	Het
Myt1l	T	A	12: 29,901,553 (GRCm39)	D769E	unknown	Het
Neb	C	T	2: 52,079,715 (GRCm39)	V5780M	possibly damaging	Het
Or1j18	T	A	2: 36,625,057 (GRCm39)	C241*	probably null	Het
Or5d35	C	A	2: 87,855,265 (GRCm39)	H66Q	possibly damaging	Het
Or6c8b	C	T	10: 128,882,333 (GRCm39)	V200M	probably damaging	Het
Or7g25	T	A	9: 19,160,567 (GRCm39)	I43F	probably benign	Het
Pcdhga12	T	C	18: 37,901,439 (GRCm39)	V757A	probably damaging	Het
Prpf31	A	G	7: 3,642,854 (GRCm39)	T448A	probably damaging	Het
Rbm6	A	T	9: 107,668,244 (GRCm39)	M694K	possibly damaging	Het
Ropn1l	T	C	15: 31,451,349 (GRCm39)	Y45C		Het
Selenbp1	T	A	3: 94,847,021 (GRCm39)	D182E	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,453,486 (GRCm39)		probably benign	Het
Spef1	G	A	2: 131,014,653 (GRCm39)	R90W	probably damaging	Het
Sspo	A	G	6: 48,452,396 (GRCm39)	S2787G	probably benign	Het
Stox2	A	G	8: 47,645,271 (GRCm39)	S730P	possibly damaging	Het
Syne1	T	C	10: 5,078,434 (GRCm39)	N997S	probably benign	Het
Tipin	A	G	9: 64,195,508 (GRCm39)	D38G	probably benign	Het
Tshz1	T	A	18: 84,032,956 (GRCm39)	K484M	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	A	AAGTAC	6: 113,376,125 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,747,355 (GRCm39)	V4565I	probably benign	Het
Ubr7	A	G	12: 102,741,971 (GRCm39)	I402V	probably damaging	Het
Ucn3	A	T	13: 3,991,216 (GRCm39)	N145K	possibly damaging	Het
Utp20	GAA	GA	10: 88,623,424 (GRCm39)		probably null	Het
Vmn1r189	A	G	13: 22,286,711 (GRCm39)	I42T	possibly damaging	Het
Vmn2r91	T	C	17: 18,326,429 (GRCm39)	M238T	probably damaging	Het
Washc5	G	T	15: 59,205,516 (GRCm39)	A1125D	probably benign	Het
Wsb2	A	G	5: 117,508,827 (GRCm39)	E87G	probably damaging	Het
Zfat	G	A	15: 68,084,600 (GRCm39)	P97L	probably benign	Het
Zfp87	T	G	13: 74,523,153 (GRCm39)	T22P	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
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
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'- ATGAATGGCCACACAACAGTATTAC -3'
(R):5'- TGTGTGAGAGAGTCCAGACG -3'

Sequencing Primer
(F):5'- TTTGTTGTAATTCCTGCCCAAAATAC -3'
(R):5'- TGGGAAAGGTATATATGAAACACTCC -3'

Posted On

2019-09-13