Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03115:Utp3'

419388

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 #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

88702321-88703949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88703179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 236 (V236A)

Ref Sequence

ENSEMBL: ENSMUSP00000087896 (fasta)

Gene Model

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

AlphaFold

Q9JI13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090413
AA Change: V236A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087896
Gene: ENSMUSG00000070697
AA Change: V236A

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,808,802 (GRCm39)	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,422 (GRCm39)	C595S	probably damaging	Het
Arid2	G	A	15: 96,268,154 (GRCm39)	V756I	probably damaging	Het
Asah1	A	T	8: 41,813,336 (GRCm39)	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,822,973 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,228,663 (GRCm39)	D162G	probably damaging	Het
Clasp1	G	T	1: 118,429,053 (GRCm39)	E106*	probably null	Het
Col12a1	T	C	9: 79,588,719 (GRCm39)	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,710,182 (GRCm39)	H196N	probably benign	Het
Eps8	T	C	6: 137,504,379 (GRCm39)	D118G	probably damaging	Het
Fmo9	A	G	1: 166,505,220 (GRCm39)	S7P	probably damaging	Het
Gamt	A	G	10: 80,094,272 (GRCm39)	L197P	probably damaging	Het
Grb7	A	G	11: 98,341,945 (GRCm39)	I82V	probably damaging	Het
Hectd2	T	C	19: 36,577,121 (GRCm39)		probably null	Het
Ilk	T	C	7: 105,389,542 (GRCm39)	V83A	probably damaging	Het
Kif21a	T	A	15: 90,869,598 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	G	7: 139,501,425 (GRCm39)	I905V	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Morc3	T	C	16: 93,667,971 (GRCm39)	I710T	probably damaging	Het
Nefm	T	C	14: 68,357,728 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,862,040 (GRCm39)	E9G	probably damaging	Het
Or2f2	A	G	6: 42,767,599 (GRCm39)	T209A	probably benign	Het
Or8g23	C	A	9: 38,971,259 (GRCm39)	R234S	probably damaging	Het
Pard6g	T	G	18: 80,123,068 (GRCm39)	L34W	probably damaging	Het
Patj	C	T	4: 98,332,040 (GRCm39)	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,164,883 (GRCm39)	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,825,670 (GRCm39)	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,470,033 (GRCm39)	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,046,641 (GRCm39)		probably benign	Het
Poldip2	T	C	11: 78,411,970 (GRCm39)		probably benign	Het
Ralgapa2	T	C	2: 146,266,734 (GRCm39)	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,403,145 (GRCm39)		probably null	Het
Samd3	C	T	10: 26,147,606 (GRCm39)	T427M	probably damaging	Het
Skap1	A	G	11: 96,593,446 (GRCm39)	I98V	probably benign	Het
Skint11	T	C	4: 114,101,820 (GRCm39)	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,126,670 (GRCm39)	E133A	probably damaging	Het
Slc23a2	T	C	2: 131,933,185 (GRCm39)	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,426,403 (GRCm39)	E494V	possibly damaging	Het
Slco1a4	A	T	6: 141,765,329 (GRCm39)	D304E	probably benign	Het
Slco1a4	A	C	6: 141,763,585 (GRCm39)	M377R	probably damaging	Het
Srpk2	T	C	5: 23,729,616 (GRCm39)		probably null	Het
Supt3	T	G	17: 45,352,114 (GRCm39)	C271W	probably damaging	Het
Taar7d	C	A	10: 23,903,539 (GRCm39)	F140L	probably benign	Het
Tmbim7	T	C	5: 3,729,158 (GRCm39)	*225Q	probably null	Het
Tpst1	T	C	5: 130,130,752 (GRCm39)	I74T	probably damaging	Het
Vmn2r55	A	T	7: 12,404,558 (GRCm39)	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,327,460 (GRCm39)	I372N	possibly damaging	Het
Wtip	C	T	7: 33,824,958 (GRCm39)	A209T	probably damaging	Het
Zbbx	T	C	3: 74,985,867 (GRCm39)	D395G	probably benign	Het
Zfp273	A	T	13: 67,973,769 (GRCm39)	H299L	probably damaging	Het
Zfp459	G	A	13: 67,556,796 (GRCm39)	R96*	probably null	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
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

2016-08-02