Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Utp4'

205603

Institutional Source

Beutler Lab

Gene Symbol

Utp4

Ensembl Gene

ENSMUSG00000041438

Gene Name

UTP4 small subunit processome component

Synonyms

Cirh1a, Tex292, TEG-292

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1839 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

107620268-107649720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107640086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 465 (H465R)

Ref Sequence

ENSEMBL: ENSMUSP00000048377 (fasta)

Gene Model

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

AlphaFold

Q8R2N2

Predicted Effect

probably benign
Transcript: ENSMUST00000047629
AA Change: H465R

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

SMART Domains

Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: H465R

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: ENSMUST00000212718

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,369 (GRCm39)	T403A	probably damaging	Het
Acat3	T	A	17: 13,147,493 (GRCm39)	R175*	probably null	Het
Adam1b	C	A	5: 121,639,104 (GRCm39)	C647F	probably damaging	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,837,380 (GRCm39)		probably null	Het
Adcy5	A	T	16: 35,069,310 (GRCm39)	N426I	probably damaging	Het
Adgre1	T	C	17: 57,748,299 (GRCm39)	S500P	probably benign	Het
Aloxe3	A	G	11: 69,020,911 (GRCm39)	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,562,942 (GRCm39)	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,760,626 (GRCm39)	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,203,702 (GRCm39)	A757S	possibly damaging	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,831,477 (GRCm39)		probably benign	Het
Ccnk	A	G	12: 108,161,333 (GRCm39)	T195A	probably damaging	Het
Cd55b	C	A	1: 130,341,842 (GRCm39)	C265F	probably damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Cenpt	T	C	8: 106,575,646 (GRCm39)	S190G	possibly damaging	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Cxxc4	C	A	3: 133,946,414 (GRCm39)	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,338,661 (GRCm39)	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,318,111 (GRCm39)	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,440,837 (GRCm39)	I47V	probably benign	Het
Ddx5	A	T	11: 106,675,723 (GRCm39)	D322E	probably benign	Het
Dhx40	A	G	11: 86,680,123 (GRCm39)	C405R	possibly damaging	Het
Emc1	T	C	4: 139,087,796 (GRCm39)	F100S	probably damaging	Het
Exoc2	T	C	13: 31,090,480 (GRCm39)		probably benign	Het
Gm10110	A	T	14: 90,135,272 (GRCm39)		noncoding transcript	Het
Gm17332	T	C	11: 31,132,386 (GRCm39)	H26R	possibly damaging	Het
Gna12	T	C	5: 140,748,367 (GRCm39)	N183S	probably benign	Het
Gpx6	A	G	13: 21,496,497 (GRCm39)	N24D	probably benign	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,527,044 (GRCm39)	Y134C	probably benign	Het
Ifi213	T	C	1: 173,417,166 (GRCm39)	I415M	probably damaging	Het
Ints9	C	A	14: 65,253,979 (GRCm39)	P278T	probably damaging	Het
Krt79	C	T	15: 101,846,373 (GRCm39)	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,567,337 (GRCm39)	N132S	probably benign	Het
Ltn1	T	A	16: 87,213,152 (GRCm39)	K470*	probably null	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Mcm9	A	G	10: 53,417,649 (GRCm39)	M18T	probably damaging	Het
Med12l	A	G	3: 58,975,740 (GRCm39)	T212A	probably benign	Het
Mfhas1	T	C	8: 36,058,012 (GRCm39)	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,121,407 (GRCm39)	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Nme4	A	T	17: 26,311,071 (GRCm39)	W165R	probably damaging	Het
Nup205	T	A	6: 35,196,649 (GRCm39)	D1128E	probably benign	Het
Or2t48	A	T	11: 58,420,199 (GRCm39)	Y204*	probably null	Het
Or5ae2	T	C	7: 84,505,756 (GRCm39)	Y60H	probably damaging	Het
Pcdh1	T	C	18: 38,332,538 (GRCm39)	D155G	possibly damaging	Het
Pex12	A	T	11: 83,188,648 (GRCm39)	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,125,731 (GRCm39)		probably benign	Het
Plekhh3	A	G	11: 101,054,426 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,104,342 (GRCm39)	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,765,719 (GRCm39)	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rgs14	T	C	13: 55,530,651 (GRCm39)		probably benign	Het
Rhbdf2	A	T	11: 116,491,017 (GRCm39)	V645E	possibly damaging	Het
Robo3	A	G	9: 37,333,623 (GRCm39)	V696A	probably benign	Het
Sall1	A	G	8: 89,755,344 (GRCm39)	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,270,932 (GRCm39)	E109G	probably benign	Het
Serpind1	G	T	16: 17,160,856 (GRCm39)	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,696,600 (GRCm39)		probably benign	Het
Sstr4	C	A	2: 148,237,453 (GRCm39)	N21K	probably benign	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Thap4	T	C	1: 93,678,009 (GRCm39)	E259G	probably benign	Het
Thra	A	G	11: 98,646,969 (GRCm39)	N30S	probably benign	Het
Tmem207	A	T	16: 26,343,571 (GRCm39)	V27E	possibly damaging	Het
Top3a	A	G	11: 60,644,714 (GRCm39)	V305A	probably damaging	Het
Trim59	A	T	3: 68,944,971 (GRCm39)	I123K	probably damaging	Het
Ttn	T	C	2: 76,691,839 (GRCm39)		probably benign	Het
Ubac1	T	A	2: 25,897,750 (GRCm39)	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308 (GRCm39)		probably benign	Het
Uri1	A	T	7: 37,666,814 (GRCm39)	D206E	probably benign	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,782,217 (GRCm39)		probably null	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Vps72	G	A	3: 95,026,529 (GRCm39)	R158Q	possibly damaging	Het
Wdr59	T	C	8: 112,211,972 (GRCm39)	D366G	probably benign	Het
Zfp366	C	A	13: 99,365,000 (GRCm39)	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	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
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
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'- AACTGAAGCCTGGCTGTGTC -3'
(R):5'- GTCCAGTTAGAAATCCCCACCTG -3'

Sequencing Primer
(F):5'- CGGGTTTGGGTGCTACTTTCTC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2014-06-23