Mutagenetix > Incidental Mutation

Incidental Mutation 'R4535:Utp3'

333278

Institutional Source

Beutler Lab

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 #

R4535 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88702321-88703949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88703458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 329 (V329A)

Ref Sequence

ENSEMBL: ENSMUSP00000087896 (fasta)

Gene Model

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

AlphaFold

Q9JI13

Predicted Effect

probably benign
Transcript: ENSMUST00000090413
AA Change: V329A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087896
Gene: ENSMUSG00000070697
AA Change: V329A

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	T	C	1: 34,762,162 (GRCm39)	S473P	unknown	Het
Azin1	A	T	15: 38,493,849 (GRCm39)	I258N	probably benign	Het
Bod1l	G	A	5: 41,989,574 (GRCm39)	A383V	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Cd4	A	T	6: 124,847,414 (GRCm39)	F250Y	probably benign	Het
Clcn4	T	A	7: 7,290,813 (GRCm39)	Y662F	probably benign	Het
Cpa2	T	C	6: 30,552,020 (GRCm39)	V249A	probably benign	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dhx57	A	G	17: 80,582,511 (GRCm39)	Y365H	probably damaging	Het
Dsg1c	A	G	18: 20,408,322 (GRCm39)	E457G	probably benign	Het
Eef2k	T	A	7: 120,457,822 (GRCm39)	Y60*	probably null	Het
Efcc1	A	G	6: 87,730,133 (GRCm39)	D482G	probably null	Het
Exoc4	C	T	6: 33,254,179 (GRCm39)	R112C	probably damaging	Het
Fam178b	A	T	1: 36,639,606 (GRCm39)	D293E	probably benign	Het
Fbxl21	G	A	13: 56,674,873 (GRCm39)	V49I	probably damaging	Het
Fyco1	A	G	9: 123,667,953 (GRCm39)	V91A	probably damaging	Het
H2-M10.4	T	C	17: 36,772,736 (GRCm39)	E82G	probably damaging	Het
Hmcn1	A	G	1: 150,439,531 (GRCm39)	I5434T	probably damaging	Het
Hormad1	T	C	3: 95,492,452 (GRCm39)	V343A	probably benign	Het
Incenp	T	C	19: 9,861,303 (GRCm39)	N450S	unknown	Het
Iqsec3	T	C	6: 121,356,977 (GRCm39)	K1035E	possibly damaging	Het
Ltn1	A	T	16: 87,223,174 (GRCm39)	V102D	probably damaging	Het
Mcur1	T	C	13: 43,698,016 (GRCm39)	T295A	probably damaging	Het
Pals1	A	T	12: 78,871,611 (GRCm39)	D397V	possibly damaging	Het
Pcdha3	T	C	18: 37,081,013 (GRCm39)	V585A	probably damaging	Het
Plcd4	A	G	1: 74,602,627 (GRCm39)	T594A	probably damaging	Het
Ppp1r3c	T	C	19: 36,711,522 (GRCm39)	K83E	probably damaging	Het
Sesn3	C	A	9: 14,233,954 (GRCm39)	T309K	probably benign	Het
Slc38a3	T	C	9: 107,533,405 (GRCm39)	N251S	probably benign	Het
Sptbn4	A	G	7: 27,067,127 (GRCm39)	V614A	probably damaging	Het
Srsf4	A	G	4: 131,601,175 (GRCm39)	K34R	probably damaging	Het
Tfpi2	T	C	6: 3,968,044 (GRCm39)	N32S	possibly damaging	Het
Ttll2	A	T	17: 7,619,120 (GRCm39)	I269N	probably benign	Het
Vmn2r102	A	G	17: 19,914,975 (GRCm39)	T847A	probably benign	Het
Vmn2r70	A	T	7: 85,214,541 (GRCm39)	W204R	probably damaging	Het
Xrcc3	A	G	12: 111,770,966 (GRCm39)	L321P	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
IGL02818:Utp3	APN	5	88,703,267 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GAAAGGGGTCATTCCAACTGG -3'
(R):5'- AGCCTGTTCTTCAGCACTG -3'

Sequencing Primer
(F):5'- CTTGAACTATTGCGCCAACATTAGC -3'
(R):5'- AGCCTGTTCTTCAGCACTGTTTTC -3'

Posted On

2015-08-18