Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4480001:Utp4'

554865

Institutional Source

Beutler Lab

Gene Symbol

Utp4

Ensembl Gene

ENSMUSG00000041438

Gene Name

UTP4 small subunit processome component

Synonyms

Cirh1a, Tex292, TEG-292

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4480001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107620268-107649720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107632817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 267 (S267P)

Ref Sequence

ENSEMBL: ENSMUSP00000048377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047629]

AlphaFold

Q8R2N2

Predicted Effect

probably benign
Transcript: ENSMUST00000047629
AA Change: S267P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: S267P

Domain	Start	End	E-Value	Type
WD40	5	44	6.19e-1	SMART
WD40	48	87	1.48e1	SMART
WD40	90	129	5.39e-5	SMART
WD40	134	172	1.48e-2	SMART
WD40	185	222	7.96e0	SMART
WD40	225	264	3.55e1	SMART
WD40	276	313	7.96e0	SMART
Blast:WD40	378	417	2e-19	BLAST
WD40	426	465	8.25e0	SMART
WD40	470	512	3.99e-1	SMART
WD40	515	554	2.22e0	SMART

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 83.8%
20x: 69.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	G	A	19: 4,917,605 (GRCm39)	Q413*	probably null	Het
Ahnak2	C	T	12: 112,740,358 (GRCm39)	S1238N	possibly damaging	Het
Arsk	T	C	13: 76,210,484 (GRCm39)	E521G	probably damaging	Het
Baiap2	A	G	11: 119,887,913 (GRCm39)	T356A	probably benign	Het
Baz1b	G	A	5: 135,246,819 (GRCm39)	R756H	probably damaging	Het
Celsr1	G	A	15: 85,916,615 (GRCm39)	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,412 (GRCm39)	P196S	probably damaging	Het
Cln5	T	A	14: 103,309,214 (GRCm39)	Y89*	probably null	Het
Cntnap3	A	G	13: 64,905,024 (GRCm39)	F919S	probably damaging	Het
Cntrl	C	T	2: 35,045,440 (GRCm39)	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,203,592 (GRCm39)	S1037P	probably benign	Het
Col17a1	A	T	19: 47,659,813 (GRCm39)	S380T	probably benign	Het
Cyrib	G	A	15: 63,828,490 (GRCm39)	T11I	probably benign	Het
Dagla	A	T	19: 10,238,022 (GRCm39)	S323T	probably benign	Het
Dicer1	G	T	12: 104,662,803 (GRCm39)	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,078,863 (GRCm39)	I2367V	probably benign	Het
Emc1	T	C	4: 139,086,588 (GRCm39)	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Erbb4	A	T	1: 68,114,702 (GRCm39)	M914K	probably damaging	Het
Eva1a	A	G	6: 82,068,784 (GRCm39)	E37G	probably damaging	Het
Fyco1	G	T	9: 123,657,715 (GRCm39)	Y820*	probably null	Het
Gipr	T	C	7: 18,896,859 (GRCm39)	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,536,181 (GRCm39)	V148A	probably damaging	Het
Gpn1	T	C	5: 31,654,685 (GRCm39)	V79A	probably damaging	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,772,896 (GRCm39)	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,286,858 (GRCm39)	T579I	probably benign	Het
Kif15	A	T	9: 122,840,608 (GRCm39)	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,801,254 (GRCm39)	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,508,538 (GRCm39)	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,469,103 (GRCm39)	T314S	possibly damaging	Het
Nsd1	A	G	13: 55,361,731 (GRCm39)	Q233R	probably benign	Het
Or11g1	T	C	14: 50,651,372 (GRCm39)	F124L	probably benign	Het
Or5w17	T	C	2: 87,584,127 (GRCm39)	D70G	possibly damaging	Het
Paqr5	T	A	9: 61,863,438 (GRCm39)	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560 (GRCm39)	H379Y	unknown	Het
Phtf2	A	T	5: 21,018,242 (GRCm39)	I33N	probably damaging	Het
Plcb2	T	C	2: 118,553,977 (GRCm39)	M115V	probably benign	Het
Ppp2r3d	A	G	9: 101,003,576 (GRCm39)	Y431H	possibly damaging	Het
Prph2	GT	G	17: 47,222,039 (GRCm39)		probably null	Het
Psmd1	C	T	1: 86,055,960 (GRCm39)	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,247,340 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,977 (GRCm39)	D770G	possibly damaging	Het
Serac1	A	G	17: 6,101,087 (GRCm39)	L439P	probably damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,987,257 (GRCm39)		probably null	Het
Sox6	T	C	7: 115,196,744 (GRCm39)	I295M	probably benign	Het
Spata31h1	T	C	10: 82,119,586 (GRCm39)	M4475V	probably benign	Het
Sulf1	T	A	1: 12,929,637 (GRCm39)	D301E	probably benign	Het
Tas2r117	G	A	6: 132,780,014 (GRCm39)	V51I	possibly damaging	Het
Tbx2	C	T	11: 85,725,561 (GRCm39)	R171C	probably damaging	Het
Tgfbr1	A	G	4: 47,402,955 (GRCm39)	I320V	probably benign	Het
Tjp3	C	A	10: 81,115,091 (GRCm39)	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,400,460 (GRCm39)	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,071 (GRCm39)	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,348,802 (GRCm39)	Y138F	probably benign	Het
Wnk1	A	T	6: 119,940,328 (GRCm39)	L803*	probably null	Het
Zbbx	T	A	3: 75,043,794 (GRCm39)	D35V	probably damaging	Het
Zscan12	T	G	13: 21,552,744 (GRCm39)	N189K	possibly damaging	Het

Other mutations in Utp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01465:Utp4	APN	8	107,621,330 (GRCm39)	missense	probably benign	0.02
IGL01871:Utp4	APN	8	107,638,949 (GRCm39)	missense	probably benign
IGL02100:Utp4	APN	8	107,624,807 (GRCm39)	missense	probably benign	0.00
IGL02501:Utp4	APN	8	107,632,873 (GRCm39)	missense	probably benign	0.16
IGL02948:Utp4	APN	8	107,621,273 (GRCm39)	missense	probably benign	0.31
IGL03210:Utp4	APN	8	107,642,888 (GRCm39)	missense	probably benign
Cheyenne_canon	UTSW	8	107,638,907 (GRCm39)	missense	probably damaging	1.00
R0066:Utp4	UTSW	8	107,649,530 (GRCm39)	missense	possibly damaging	0.70
R0066:Utp4	UTSW	8	107,649,530 (GRCm39)	missense	possibly damaging	0.70
R0145:Utp4	UTSW	8	107,621,301 (GRCm39)	missense	probably benign	0.02
R0158:Utp4	UTSW	8	107,640,018 (GRCm39)	missense	probably null
R0360:Utp4	UTSW	8	107,625,169 (GRCm39)	unclassified	probably benign
R0364:Utp4	UTSW	8	107,625,169 (GRCm39)	unclassified	probably benign
R0382:Utp4	UTSW	8	107,649,567 (GRCm39)	missense	probably benign	0.01
R0798:Utp4	UTSW	8	107,648,858 (GRCm39)	missense	probably benign	0.00
R1164:Utp4	UTSW	8	107,627,476 (GRCm39)	critical splice acceptor site	probably null
R1381:Utp4	UTSW	8	107,632,908 (GRCm39)	missense	probably benign	0.02
R1440:Utp4	UTSW	8	107,624,685 (GRCm39)	unclassified	probably benign
R1711:Utp4	UTSW	8	107,645,352 (GRCm39)	missense	probably damaging	1.00
R1839:Utp4	UTSW	8	107,640,086 (GRCm39)	missense	probably benign
R1903:Utp4	UTSW	8	107,638,982 (GRCm39)	critical splice donor site	probably null
R2060:Utp4	UTSW	8	107,625,153 (GRCm39)	missense	probably benign	0.33
R2938:Utp4	UTSW	8	107,649,561 (GRCm39)	missense	probably damaging	1.00
R5526:Utp4	UTSW	8	107,644,265 (GRCm39)	missense	possibly damaging	0.70
R5562:Utp4	UTSW	8	107,649,557 (GRCm39)	missense	probably benign	0.00
R5764:Utp4	UTSW	8	107,644,248 (GRCm39)	missense	possibly damaging	0.81
R5814:Utp4	UTSW	8	107,638,907 (GRCm39)	missense	probably damaging	1.00
R6310:Utp4	UTSW	8	107,645,253 (GRCm39)	missense	probably benign	0.16
R6478:Utp4	UTSW	8	107,631,078 (GRCm39)	critical splice donor site	probably null
R6523:Utp4	UTSW	8	107,625,095 (GRCm39)	missense	probably damaging	0.98
R7329:Utp4	UTSW	8	107,640,095 (GRCm39)	missense	probably benign	0.00
R7916:Utp4	UTSW	8	107,649,497 (GRCm39)	missense	probably damaging	0.98
R8309:Utp4	UTSW	8	107,642,853 (GRCm39)	missense	probably benign	0.00
R9090:Utp4	UTSW	8	107,632,857 (GRCm39)	missense	probably damaging	1.00
R9147:Utp4	UTSW	8	107,621,310 (GRCm39)	missense	possibly damaging	0.93
R9271:Utp4	UTSW	8	107,632,857 (GRCm39)	missense	probably damaging	1.00
R9290:Utp4	UTSW	8	107,642,828 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGATGGAACTGCTACTGGGAG -3'
(R):5'- GCTTTCATGAAGAGAACAGCC -3'

Sequencing Primer
(F):5'- GGAGCCTCCCTGCTAATTCAG -3'
(R):5'- CTTTCATGAAGAGAACAGCCTGAGC -3'

Posted On

2019-06-07