Mutagenetix > Incidental Mutation

Incidental Mutation 'R0082:Utp6'

19727

Institutional Source

Beutler Lab

Gene Symbol

Utp6

Ensembl Gene

ENSMUSG00000035575

Gene Name

UTP6 small subunit processome component

Synonyms

HCA66, 4732497O03Rik

MMRRC Submission

038369-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R0082 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

79824782-79853213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79844457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 189 (H189Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043152] [ENSMUST00000108241]

AlphaFold

Q8VCY6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043152
AA Change: H189Q

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: H189Q

Domain	Start	End	E-Value	Type
Blast:HAT	25	63	5e-11	BLAST
HAT	87	119	6.33e2	SMART
HAT	121	153	5.54e-1	SMART
HAT	156	188	2.41e-1	SMART
HAT	305	336	4.13e0	SMART
Blast:HAT	350	382	1e-11	BLAST
Blast:HAT	418	451	2e-9	BLAST
Blast:HAT	454	487	3e-12	BLAST
HAT	489	521	8.05e0	SMART
HAT	525	558	9.13e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108241
AA Change: H189Q

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: H189Q

Domain	Start	End	E-Value	Type
Blast:HAT	25	63	5e-11	BLAST
HAT	87	119	6.33e2	SMART
HAT	121	153	5.54e-1	SMART
HAT	156	188	2.41e-1	SMART
HAT	305	336	4.13e0	SMART
Blast:HAT	350	382	1e-11	BLAST
Blast:HAT	418	451	2e-9	BLAST
Blast:HAT	454	487	3e-12	BLAST
HAT	489	521	8.05e0	SMART
HAT	525	558	9.13e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146127

Meta Mutation Damage Score

0.0901

Coding Region Coverage

1x: 98.9%
3x: 97.3%
10x: 91.7%
20x: 73.7%

Validation Efficiency

94% (136/144)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,379,049 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,497 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ankrd33b	T	C	15: 31,297,935 (GRCm39)	N274S	probably benign	Het
Antkmt	T	C	17: 26,010,548 (GRCm39)	I89V	probably benign	Het
Arhgef1	C	T	7: 24,612,030 (GRCm39)	Q100*	probably null	Het
Ccdc180	A	G	4: 45,896,205 (GRCm39)	D118G	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Cdh4	A	T	2: 179,535,981 (GRCm39)	N844I	possibly damaging	Het
Cep57	T	C	9: 13,722,172 (GRCm39)		probably benign	Het
Dnah7a	A	T	1: 53,557,867 (GRCm39)	D2182E	probably damaging	Het
Dync1h1	A	G	12: 110,602,880 (GRCm39)	T2174A	probably benign	Het
Eef1akmt2	T	A	7: 132,453,201 (GRCm39)	R44*	probably null	Het
Evpl	T	A	11: 116,125,829 (GRCm39)	I43F	probably damaging	Het
F13a1	G	T	13: 37,172,927 (GRCm39)	P151Q	probably damaging	Het
Galnt5	A	T	2: 57,889,047 (GRCm39)	I216F	possibly damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gpr139	T	A	7: 118,744,268 (GRCm39)	T106S	probably benign	Het
Hoatz	T	C	9: 51,013,102 (GRCm39)	T57A	probably benign	Het
Hoxb3	A	G	11: 96,235,097 (GRCm39)	D8G	probably damaging	Het
Hpse	T	C	5: 100,840,128 (GRCm39)	K330E	possibly damaging	Het
Kcmf1	G	T	6: 72,827,470 (GRCm39)		probably null	Het
Klra2	T	C	6: 131,197,210 (GRCm39)	N263S	possibly damaging	Het
Klra8	T	C	6: 130,102,018 (GRCm39)	D139G	probably benign	Het
Lrrc46	A	C	11: 96,931,903 (GRCm39)		probably benign	Het
Ly86	A	T	13: 37,602,513 (GRCm39)		probably null	Het
Mmp20	C	T	9: 7,642,808 (GRCm39)	T214M	probably benign	Het
Or4k5	A	T	14: 50,385,512 (GRCm39)	I273K	probably damaging	Het
Or52s1b	G	T	7: 102,822,409 (GRCm39)	A145E	probably benign	Het
Or6c1b	T	C	10: 129,273,140 (GRCm39)	I153T	possibly damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Pigg	A	G	5: 108,460,751 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,837,619 (GRCm39)	T177K	probably benign	Het
Pomgnt2	A	T	9: 121,811,326 (GRCm39)	V485E	probably damaging	Het
Ppip5k2	A	T	1: 97,687,057 (GRCm39)	C49*	probably null	Het
Prkrip1	T	C	5: 136,226,682 (GRCm39)	N53D	possibly damaging	Het
Prrc2b	T	C	2: 32,102,310 (GRCm39)		probably benign	Het
Qprt	T	C	7: 126,707,358 (GRCm39)	E246G	probably damaging	Het
Rpl9	A	G	5: 65,545,995 (GRCm39)	V167A	probably benign	Het
Rskr	T	C	11: 78,184,384 (GRCm39)	S244P	probably damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,436,702 (GRCm39)	I43V	probably benign	Het
Slc38a7	A	G	8: 96,567,109 (GRCm39)		probably benign	Het
Slc8b1	A	G	5: 120,662,265 (GRCm39)		probably benign	Het
Sp2	T	C	11: 96,852,525 (GRCm39)	Y133C	probably damaging	Het
Spdye4b	A	T	5: 143,181,430 (GRCm39)	D95V	probably damaging	Het
Srek1	T	C	13: 103,880,194 (GRCm39)	T455A	unknown	Het
Stox2	A	T	8: 47,656,317 (GRCm39)		probably benign	Het
Synrg	T	A	11: 83,878,736 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,341,550 (GRCm39)	E254V	probably damaging	Het
Tmem97	G	T	11: 78,433,414 (GRCm39)	F160L	probably damaging	Het
Vip	T	A	10: 5,594,953 (GRCm39)	*172R	probably null	Het
Wdr91	T	C	6: 34,883,620 (GRCm39)	R132G	possibly damaging	Het
Wipi1	T	C	11: 109,469,110 (GRCm39)		probably benign	Het
Zfp445	A	G	9: 122,681,421 (GRCm39)	V840A	probably damaging	Het

Other mutations in Utp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Utp6	APN	11	79,846,531 (GRCm39)	nonsense	probably null
IGL02889:Utp6	APN	11	79,839,896 (GRCm39)	missense	possibly damaging	0.88
IGL03028:Utp6	APN	11	79,844,450 (GRCm39)	missense	probably damaging	0.99
IGL03040:Utp6	APN	11	79,826,939 (GRCm39)	splice site	probably benign
IGL03084:Utp6	APN	11	79,853,042 (GRCm39)	critical splice donor site	probably null
IGL03236:Utp6	APN	11	79,851,567 (GRCm39)	splice site	probably benign
PIT4382001:Utp6	UTSW	11	79,853,099 (GRCm39)	missense	probably benign	0.02
R0140:Utp6	UTSW	11	79,847,551 (GRCm39)	splice site	probably benign
R0962:Utp6	UTSW	11	79,832,694 (GRCm39)	splice site	probably benign
R1485:Utp6	UTSW	11	79,839,749 (GRCm39)	missense	probably damaging	1.00
R2376:Utp6	UTSW	11	79,846,439 (GRCm39)	missense	probably damaging	0.99
R2380:Utp6	UTSW	11	79,826,831 (GRCm39)	missense	possibly damaging	0.67
R4065:Utp6	UTSW	11	79,837,073 (GRCm39)	missense	probably damaging	1.00
R5465:Utp6	UTSW	11	79,839,836 (GRCm39)	missense	probably benign	0.08
R5774:Utp6	UTSW	11	79,844,424 (GRCm39)	missense	probably benign
R6842:Utp6	UTSW	11	79,831,775 (GRCm39)	missense	probably benign	0.00
R7507:Utp6	UTSW	11	79,833,012 (GRCm39)	missense	possibly damaging	0.53
R7793:Utp6	UTSW	11	79,828,556 (GRCm39)	missense	probably benign	0.00
R8349:Utp6	UTSW	11	79,836,610 (GRCm39)	missense	probably benign	0.00
R8449:Utp6	UTSW	11	79,836,610 (GRCm39)	missense	probably benign	0.00
R8856:Utp6	UTSW	11	79,842,455 (GRCm39)	missense	probably benign	0.12
R8930:Utp6	UTSW	11	79,834,055 (GRCm39)	critical splice donor site	probably null
R8932:Utp6	UTSW	11	79,834,055 (GRCm39)	critical splice donor site	probably null
R9282:Utp6	UTSW	11	79,826,851 (GRCm39)	missense	probably benign	0.12
Z1176:Utp6	UTSW	11	79,826,788 (GRCm39)	missense	probably damaging	1.00
Z1177:Utp6	UTSW	11	79,832,735 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCACACCTTTAACCGCAC -3'
(R):5'- GGTTCATTCCAAAGTCAAATGTGGTCC -3'

Sequencing Primer
(F):5'- ctgacctctgacctcccc -3'
(R):5'- AAGTCAAATGTGGTCCTCTCATTTTC -3'

Posted On

2013-04-11