Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02818:Utp3'

360883

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp3

Ensembl Gene

ENSMUSG00000070697

Gene Name

UTP3 small subunit processome component

Synonyms

Crlz1, 2400011K09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL02818

Quality Score

Status

Chromosome

Chromosomal Location

88702321-88703949 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 88703267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 265 (Y265*)

Ref Sequence

ENSEMBL: ENSMUSP00000087896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090413]

AlphaFold

Q9JI13

Predicted Effect

probably null
Transcript: ENSMUST00000090413
AA Change: Y265*

SMART Domains

Protein: ENSMUSP00000087896
Gene: ENSMUSG00000070697
AA Change: Y265*

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
low complexity region	66	80	N/A	INTRINSIC
low complexity region	86	114	N/A	INTRINSIC
coiled coil region	141	176	N/A	INTRINSIC
Pfam:Sas10_Utp3	226	306	5.1e-21	PFAM
low complexity region	334	348	N/A	INTRINSIC
Pfam:Sas10	395	468	1e-31	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,519,326 (GRCm39)	F653S	probably benign	Het
Acsm2	A	G	7: 119,172,804 (GRCm39)		probably null	Het
Aldh2	C	T	5: 121,713,188 (GRCm39)	G256D	probably benign	Het
Ankfn1	G	A	11: 89,429,292 (GRCm39)	H31Y	probably benign	Het
BC016579	A	T	16: 45,449,865 (GRCm39)	S184R	probably damaging	Het
Cd101	A	G	3: 100,919,245 (GRCm39)	L619P	probably damaging	Het
Clec14a	A	T	12: 58,314,888 (GRCm39)	C245S	probably damaging	Het
Csmd2	T	C	4: 128,103,521 (GRCm39)	C247R	probably damaging	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dctn1	T	C	6: 83,169,496 (GRCm39)	S637P	possibly damaging	Het
Dhx40	A	T	11: 86,690,331 (GRCm39)	I230K	probably benign	Het
Dnah7b	T	C	1: 46,329,968 (GRCm39)	Y3271H	probably damaging	Het
Efcab5	A	T	11: 76,996,174 (GRCm39)	I1129N	probably damaging	Het
Gaa	G	T	11: 119,167,674 (GRCm39)	A445S	probably damaging	Het
Gldc	A	G	19: 30,113,909 (GRCm39)	S498P	probably damaging	Het
Gm973	T	C	1: 59,580,634 (GRCm39)		probably null	Het
Hpdl	T	C	4: 116,677,439 (GRCm39)	I341V	probably damaging	Het
Il23r	A	G	6: 67,463,078 (GRCm39)		probably null	Het
Kif9	T	A	9: 110,314,217 (GRCm39)	Y76N	probably damaging	Het
Lct	T	G	1: 128,227,905 (GRCm39)	E1196A	probably damaging	Het
Lrrc37a	T	C	11: 103,392,132 (GRCm39)	I1098V	possibly damaging	Het
Mroh1	A	G	15: 76,316,601 (GRCm39)		probably null	Het
Nmrk1	T	C	19: 18,618,623 (GRCm39)	L102P	probably damaging	Het
Nudcd3	A	T	11: 6,100,635 (GRCm39)		probably benign	Het
Ogdh	A	G	11: 6,298,270 (GRCm39)	T603A	probably benign	Het
Or12j2	A	T	7: 139,916,519 (GRCm39)	Y248F	possibly damaging	Het
Or8k38	T	A	2: 86,488,128 (GRCm39)	I225F	probably damaging	Het
Pcsk4	T	C	10: 80,158,626 (GRCm39)	Y542C	probably damaging	Het
Pkd2l2	T	A	18: 34,545,862 (GRCm39)	W88R	probably damaging	Het
Ppp1r1b	C	T	11: 98,242,096 (GRCm39)	T21I	possibly damaging	Het
Srebf2	C	A	15: 82,069,575 (GRCm39)	H706N	probably damaging	Het
Stradb	T	C	1: 59,019,121 (GRCm39)	V14A	probably damaging	Het
Svep1	T	C	4: 58,069,804 (GRCm39)	T2661A	possibly damaging	Het
Tnn	A	T	1: 159,943,848 (GRCm39)	S988R	possibly damaging	Het
Trpm6	C	A	19: 18,843,621 (GRCm39)	Q1662K	probably benign	Het
Vwf	A	G	6: 125,640,511 (GRCm39)	T2316A	probably benign	Het
Zfp90	T	C	8: 107,150,841 (GRCm39)	F185L	probably benign	Het
Zwilch	G	A	9: 64,057,509 (GRCm39)	T395I	probably damaging	Het

Other mutations in Utp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Utp3	APN	5	88,703,803 (GRCm39)	missense	probably damaging	0.99
IGL03115:Utp3	APN	5	88,703,179 (GRCm39)	missense	possibly damaging	0.65
PIT4515001:Utp3	UTSW	5	88,702,564 (GRCm39)	missense	probably benign	0.01
R4535:Utp3	UTSW	5	88,703,458 (GRCm39)	missense	probably benign
R6710:Utp3	UTSW	5	88,703,823 (GRCm39)	missense	probably damaging	1.00
R7143:Utp3	UTSW	5	88,702,376 (GRCm39)	start gained	probably benign
R7188:Utp3	UTSW	5	88,702,621 (GRCm39)	missense	probably benign	0.08
R7295:Utp3	UTSW	5	88,702,376 (GRCm39)	start gained	probably benign
R7297:Utp3	UTSW	5	88,702,376 (GRCm39)	start gained	probably benign
R7459:Utp3	UTSW	5	88,703,412 (GRCm39)	missense	probably damaging	1.00
R7921:Utp3	UTSW	5	88,702,755 (GRCm39)	missense	probably benign

Posted On

2015-12-18