Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Utp4'

65543

Institutional Source

Beutler Lab

Gene Symbol

Utp4

Ensembl Gene

ENSMUSG00000041438

Gene Name

UTP4 small subunit processome component

Synonyms

Cirh1a, Tex292, TEG-292

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107620268-107649720 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 107625169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047629] [ENSMUST00000169312] [ENSMUST00000176437] [ENSMUST00000176515] [ENSMUST00000177068] [ENSMUST00000212272]

AlphaFold

Q8R2N2

Predicted Effect

probably benign
Transcript: ENSMUST00000047629

SMART Domains

Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438

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

probably benign
Transcript: ENSMUST00000169312

SMART Domains

Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
internal_repeat_1	37	246	5.18e-7	PROSPERO
low complexity region	258	269	N/A	INTRINSIC
low complexity region	322	339	N/A	INTRINSIC
internal_repeat_1	344	520	5.18e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000176437

SMART Domains

Protein: ENSMUSP00000134860
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	109	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176515

SMART Domains

Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
Pfam:Ctf8	1	94	8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177068

SMART Domains

Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
Pfam:Ctf8	3	113	4.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212718

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	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
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

Posted On

2013-08-08