Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Utp4'

256110

Institutional Source

Beutler Lab

Gene Symbol

Utp4

Ensembl Gene

ENSMUSG00000041438

Gene Name

UTP4 small subunit processome component

Synonyms

Cirh1a, Tex292, TEG-292

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107620268-107649720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107649561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 670 (D670G)

Ref Sequence

ENSEMBL: ENSMUSP00000048377 (fasta)

Gene Model

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

AlphaFold

Q8R2N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000047629
AA Change: D670G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: D670G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212718

Meta Mutation Damage Score

0.2766

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	probably benign	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
PIT4480001:Utp4	UTSW	8	107,632,817 (GRCm39)	missense	probably benign	0.00
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
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'- CATGTTGAGTCCAAGGGCAG -3'
(R):5'- GGGATTTATAATGACCTTCATGCCAC -3'

Sequencing Primer
(F):5'- GGAAAGATTGTCAGGAATTTCTGTCC -3'
(R):5'- AGGAAATCTGTGCTCATTCTTTTAG -3'

Posted On

2014-12-29