Mutagenetix > Incidental Mutation

Incidental Mutation 'R1440:Utp4'

160938

Institutional Source

Beutler Lab

Gene Symbol

Utp4

Ensembl Gene

ENSMUSG00000041438

Gene Name

UTP4 small subunit processome component

Synonyms

Cirh1a, Tex292, TEG-292

MMRRC Submission

039495-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1440 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107620268-107649720 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 107624685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047629] [ENSMUST00000169312] [ENSMUST00000175940] [ENSMUST00000176090] [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: ENSMUST00000175940

SMART Domains

Protein: ENSMUSP00000135077
Gene: ENSMUSG00000046691

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176090

SMART Domains

Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691

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

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

noncoding transcript
Transcript: ENSMUST00000212718

Predicted Effect

probably benign
Transcript: ENSMUST00000212272

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.7%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	G	12: 72,928,195 (GRCm39)	N512T	possibly damaging	Het
Aadacl2	A	T	3: 59,932,313 (GRCm39)	H276L	probably damaging	Het
Adam12	G	A	7: 133,533,543 (GRCm39)	T445M	probably benign	Het
Ash2l	A	T	8: 26,317,406 (GRCm39)	F290L	probably benign	Het
Asxl3	C	T	18: 22,658,281 (GRCm39)	P2097L	probably benign	Het
Atmin	A	G	8: 117,684,115 (GRCm39)	I592V	probably damaging	Het
Atxn2	T	C	5: 121,941,145 (GRCm39)		probably null	Het
BC004004	T	C	17: 29,515,665 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,437,552 (GRCm39)	N328S	possibly damaging	Het
Cacna2d1	A	T	5: 16,560,493 (GRCm39)	K765I	probably damaging	Het
Cc2d1a	A	G	8: 84,860,604 (GRCm39)		probably null	Het
Ccdc28b	A	G	4: 129,514,408 (GRCm39)	V198A	probably benign	Het
Ces1b	G	T	8: 93,794,736 (GRCm39)	R288S	probably damaging	Het
Cfap100	T	G	6: 90,389,166 (GRCm39)	T198P	probably benign	Het
Clint1	T	C	11: 45,781,610 (GRCm39)	S227P	probably damaging	Het
Cntn5	C	A	9: 10,145,344 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,382,472 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,386,646 (GRCm39)	D431A	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,060,617 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,777,060 (GRCm39)	S102P	probably benign	Het
Dnah7b	G	A	1: 46,117,753 (GRCm39)		probably benign	Het
Dock10	A	C	1: 80,526,853 (GRCm39)	S1124A	probably benign	Het
Dscam	C	T	16: 96,621,151 (GRCm39)	R519H	probably damaging	Het
Efcab3	A	T	11: 104,999,581 (GRCm39)		probably benign	Het
Evi2a	G	T	11: 79,418,096 (GRCm39)	N171K	probably damaging	Het
Fbxl15	T	C	19: 46,318,684 (GRCm39)	L286P	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Gcat	C	T	15: 78,918,194 (GRCm39)	A84V	probably null	Het
Gls	A	G	1: 52,230,293 (GRCm39)	F473L	possibly damaging	Het
Gnat1	T	C	9: 107,554,164 (GRCm39)	D169G	probably damaging	Het
Grm3	A	C	5: 9,639,958 (GRCm39)	M29R	probably benign	Het
Herc1	A	T	9: 66,375,085 (GRCm39)	D3303V	probably damaging	Het
Ibsp	G	A	5: 104,458,405 (GRCm39)	G314D	unknown	Het
Irag2	C	T	6: 145,120,237 (GRCm39)	T484M	possibly damaging	Het
Lgr6	C	A	1: 134,915,210 (GRCm39)	A513S	probably damaging	Het
Lrriq4	T	A	3: 30,704,910 (GRCm39)	C313S	probably damaging	Het
Marchf10	G	T	11: 105,281,409 (GRCm39)	T292K	probably damaging	Het
Mcoln2	C	A	3: 145,896,137 (GRCm39)	Y6*	probably null	Het
Mup4	A	G	4: 59,958,076 (GRCm39)	I164T	probably damaging	Het
Myo1b	T	C	1: 51,817,717 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,456,100 (GRCm39)	I506T	probably damaging	Het
Notch1	A	T	2: 26,370,976 (GRCm39)		probably benign	Het
Nr4a3	A	T	4: 48,051,777 (GRCm39)	Q177L	probably benign	Het
Nsun4	A	G	4: 115,910,147 (GRCm39)	S138P	possibly damaging	Het
Or1a1	A	G	11: 74,086,505 (GRCm39)	M59V	probably damaging	Het
Or2b6	G	T	13: 21,823,560 (GRCm39)	N44K	probably benign	Het
Or2d36	A	T	7: 106,747,405 (GRCm39)	N294I	probably damaging	Het
Or4k5	T	C	14: 50,385,815 (GRCm39)	N172S	probably damaging	Het
Pagr1a	A	T	7: 126,615,469 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,343 (GRCm39)	I82L	probably benign	Het
Pds5b	A	T	5: 150,677,882 (GRCm39)	N500I	probably damaging	Het
Pik3r6	A	T	11: 68,422,271 (GRCm39)	E223D	possibly damaging	Het
Pkhd1l1	A	T	15: 44,404,384 (GRCm39)		probably benign	Het
Prex1	T	C	2: 166,422,383 (GRCm39)	D1204G	probably damaging	Het
Prickle1	C	T	15: 93,402,955 (GRCm39)	E244K	possibly damaging	Het
Ptprd	A	T	4: 76,002,789 (GRCm39)	V211E	probably damaging	Het
Rad51d	G	A	11: 82,781,179 (GRCm39)	R23*	probably null	Het
Rapgef6	G	A	11: 54,517,534 (GRCm39)	G262R	probably damaging	Het
Reln	A	G	5: 22,333,600 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,127,286 (GRCm39)	T325A	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rp1	C	A	1: 4,417,619 (GRCm39)	L1164F	probably damaging	Het
S100a7a	T	C	3: 90,562,942 (GRCm39)	V43A	probably benign	Het
Scaper	A	C	9: 55,510,202 (GRCm39)	Y1104*	probably null	Het
Scn2a	T	A	2: 65,594,938 (GRCm39)	V1929D	probably benign	Het
Scn3a	T	C	2: 65,359,785 (GRCm39)	N141S	possibly damaging	Het
Slc12a7	T	G	13: 73,949,127 (GRCm39)	L718R	probably damaging	Het
Slc15a2	T	C	16: 36,605,005 (GRCm39)		probably benign	Het
Slc35b3	G	A	13: 39,138,110 (GRCm39)	Q100*	probably null	Het
Slc9a5	T	A	8: 106,081,785 (GRCm39)	V170E	possibly damaging	Het
Snx5	T	G	2: 144,096,731 (GRCm39)	K278T	possibly damaging	Het
Sorbs2	T	C	8: 46,243,000 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,873,647 (GRCm39)	W1008*	probably null	Het
Stab2	C	T	10: 86,697,231 (GRCm39)		probably null	Het
Tacc3	A	G	5: 33,825,321 (GRCm39)	E377G	probably benign	Het
Tango6	T	C	8: 107,415,671 (GRCm39)	L164P	probably damaging	Het
Tbc1d12	T	A	19: 38,902,796 (GRCm39)	S570T	possibly damaging	Het
Thbs1	T	C	2: 117,944,836 (GRCm39)	F217L	probably damaging	Het
Tmbim6	T	A	15: 99,300,004 (GRCm39)	V40E	probably damaging	Het
Tmigd1	A	T	11: 76,800,986 (GRCm39)	N158Y	probably damaging	Het
Top3b	C	T	16: 16,710,641 (GRCm39)	R824*	probably null	Het
Tram1l1	A	T	3: 124,115,580 (GRCm39)	K247*	probably null	Het
Tsc2	T	C	17: 24,833,366 (GRCm39)	Y686C	probably damaging	Het
Tsga10	T	C	1: 37,858,680 (GRCm39)	Q218R	probably damaging	Het
Uba6	G	T	5: 86,288,282 (GRCm39)	A439D	probably damaging	Het
Ubn1	C	A	16: 4,895,158 (GRCm39)	P735T	probably damaging	Het
Usp40	A	G	1: 87,909,808 (GRCm39)	S549P	probably benign	Het
Utp20	T	C	10: 88,655,201 (GRCm39)	T176A	probably benign	Het
Xpo5	C	T	17: 46,518,853 (GRCm39)		probably benign	Het
Zfp979	A	T	4: 147,698,493 (GRCm39)	I72K	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
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'- CTTTGTATCCAACTGGACACTAGCCC -3'
(R):5'- AGCTTACTGACCAAAAGTTGAGAGCC -3'

Sequencing Primer
(F):5'- ctctgcttcctgaggactg -3'
(R):5'- CCAAAAGTTGAGAGCCACTGG -3'

Posted On

2014-03-14