Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00973:Utp6'

28642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp6

Ensembl Gene

ENSMUSG00000035575

Gene Name

UTP6 small subunit processome component

Synonyms

HCA66, 4732497O03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL00973

Quality Score

Status

Chromosome

Chromosomal Location

79824782-79853213 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 79846531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 150 (W150*)

Ref Sequence

ENSEMBL: ENSMUSP00000103876 (fasta)

Gene Model

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

AlphaFold

Q8VCY6

Predicted Effect

probably null
Transcript: ENSMUST00000043152
AA Change: W150*

SMART Domains

Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: W150*

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

probably null
Transcript: ENSMUST00000108241
AA Change: W150*

SMART Domains

Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: W150*

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,457,218 (GRCm39)	D906Y	probably damaging	Het
Cdh18	A	G	15: 23,173,882 (GRCm39)	K32R	probably damaging	Het
Chtf18	G	A	17: 25,941,090 (GRCm39)	A636V	probably benign	Het
Clcn6	A	G	4: 148,098,245 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,758 (GRCm39)	K374Q	possibly damaging	Het
Ehmt2	C	T	17: 35,129,791 (GRCm39)	R962C	probably damaging	Het
Frrs1l	T	C	4: 56,972,369 (GRCm39)	K111E	probably damaging	Het
Galnt5	A	G	2: 57,888,951 (GRCm39)	T184A	probably benign	Het
Glud1	C	T	14: 34,041,899 (GRCm39)	T169I	probably damaging	Het
Hinfp	T	G	9: 44,209,436 (GRCm39)	D283A	probably benign	Het
Hmcn2	C	T	2: 31,273,833 (GRCm39)		probably benign	Het
Hs6st3	A	T	14: 120,106,819 (GRCm39)	Y409F	possibly damaging	Het
Ighv15-2	A	T	12: 114,528,490 (GRCm39)	V20D	possibly damaging	Het
Kif17	A	G	4: 138,002,368 (GRCm39)	T91A	probably benign	Het
Mical3	T	C	6: 120,911,885 (GRCm39)		probably benign	Het
Myo1e	C	T	9: 70,246,069 (GRCm39)	T420M	probably damaging	Het
Or8b12c	C	A	9: 37,716,078 (GRCm39)	S290R	probably damaging	Het
Ovgp1	T	A	3: 105,888,593 (GRCm39)	Y316*	probably null	Het
Plekha1	T	A	7: 130,512,743 (GRCm39)	V313D	probably damaging	Het
Polr1e	C	A	4: 45,031,364 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,367 (GRCm39)		probably benign	Het
Ptpn4	T	A	1: 119,669,101 (GRCm39)	M250L	probably benign	Het
Rtn1	A	T	12: 72,455,285 (GRCm39)	L14Q	probably benign	Het
Sec24a	T	C	11: 51,620,404 (GRCm39)		probably null	Het
Sox7	A	G	14: 64,185,636 (GRCm39)	H224R	probably benign	Het
Styxl2	T	C	1: 165,927,027 (GRCm39)	S862G	probably benign	Het
Sucla2	T	C	14: 73,828,347 (GRCm39)	I318T	possibly damaging	Het
Tubb4b-ps1	A	G	5: 7,229,408 (GRCm39)		probably benign	Het
Ube2o	T	A	11: 116,432,031 (GRCm39)	K940M	probably damaging	Het
Usp20	A	C	2: 30,894,962 (GRCm39)	N149T	probably damaging	Het
Wdr27	A	C	17: 15,134,140 (GRCm39)	H475Q	probably benign	Het

Other mutations in Utp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0082:Utp6	UTSW	11	79,844,457 (GRCm39)	missense	possibly damaging	0.80
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

Posted On

2013-04-17