Incidental Mutation 'R0066:Utp4'
ID 41082
Institutional Source Beutler Lab
Gene Symbol Utp4
Ensembl Gene ENSMUSG00000041438
Gene Name UTP4 small subunit processome component
Synonyms Cirh1a, Tex292, TEG-292
MMRRC Submission 038357-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0066 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 107620268-107649720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107649530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 660 (T660A)
Ref Sequence ENSEMBL: ENSMUSP00000048377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047629]
AlphaFold Q8R2N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000047629
AA Change: T660A

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: T660A

DomainStartEndE-ValueType
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 0.0813 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.0%
Validation Efficiency 100% (107/107)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik A G 9: 22,119,177 (GRCm39) noncoding transcript Het
5530400C23Rik A T 6: 133,269,287 (GRCm39) probably benign Het
Aco2 T C 15: 81,787,666 (GRCm39) probably benign Het
Arap3 A T 18: 38,129,760 (GRCm39) S134T probably benign Het
Arsa T A 15: 89,358,539 (GRCm39) M288L possibly damaging Het
Atg2b A T 12: 105,614,708 (GRCm39) D1074E probably benign Het
Baiap2l1 A T 5: 144,221,372 (GRCm39) I174N probably damaging Het
Bpifb9a A T 2: 154,108,761 (GRCm39) N421Y possibly damaging Het
Btn2a2 T A 13: 23,662,655 (GRCm39) I432L probably benign Het
Ccdc150 A G 1: 54,395,850 (GRCm39) I778V probably benign Het
Cd200r2 G A 16: 44,730,037 (GRCm39) V194I possibly damaging Het
Cep350 A C 1: 155,786,964 (GRCm39) L1421R probably damaging Het
Col24a1 G A 3: 145,250,899 (GRCm39) A1633T probably damaging Het
Col6a6 A T 9: 105,579,412 (GRCm39) C1938S probably damaging Het
Cspg4 A T 9: 56,795,418 (GRCm39) D1051V probably damaging Het
Cstf1 T A 2: 172,214,976 (GRCm39) N32K probably benign Het
Ctrb1 G A 8: 112,413,269 (GRCm39) R248* probably null Het
Cyp2d11 T A 15: 82,275,958 (GRCm39) M208L probably benign Het
Dbt A G 3: 116,337,478 (GRCm39) Q334R probably benign Het
Dcaf12 A G 4: 41,298,338 (GRCm39) V270A probably damaging Het
Dis3l T A 9: 64,226,447 (GRCm39) N361I probably benign Het
Dnah10 A T 5: 124,840,140 (GRCm39) D1315V probably benign Het
Dnah11 A G 12: 118,090,621 (GRCm39) F1080S probably benign Het
Dnm3 A G 1: 162,234,930 (GRCm39) V70A probably damaging Het
Dpy19l1 A C 9: 24,325,705 (GRCm39) M700R possibly damaging Het
Dpy19l2 G A 9: 24,557,679 (GRCm39) probably benign Het
Dst C A 1: 34,228,634 (GRCm39) H2254N possibly damaging Het
Epm2aip1 A G 9: 111,101,531 (GRCm39) N168S probably benign Het
Fchsd2 A G 7: 100,927,631 (GRCm39) Y691C possibly damaging Het
Fndc8 A T 11: 82,788,398 (GRCm39) D76V probably benign Het
Frmd4a T C 2: 4,477,963 (GRCm39) L48P probably damaging Het
Gimap6 T A 6: 48,679,404 (GRCm39) I211F probably damaging Het
Gm15130 A G 2: 110,969,284 (GRCm39) probably benign Het
Gm43302 T A 5: 105,438,766 (GRCm39) I41F probably damaging Het
Gm5698 C T 1: 31,016,614 (GRCm39) V146I probably benign Het
Gpatch1 G A 7: 34,986,652 (GRCm39) S768L probably damaging Het
Grb14 T G 2: 64,768,836 (GRCm39) probably null Het
Hnrnpd T C 5: 100,112,560 (GRCm39) E222G probably damaging Het
Il4ra C T 7: 125,175,403 (GRCm39) P537L possibly damaging Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kcnh4 T C 11: 100,648,626 (GRCm39) H26R probably benign Het
Kctd2 T G 11: 115,320,343 (GRCm39) probably benign Het
Khdrbs3 T A 15: 68,866,886 (GRCm39) probably benign Het
Macf1 G A 4: 123,325,943 (GRCm39) Q3066* probably null Het
Mfn2 G A 4: 147,969,902 (GRCm39) probably benign Het
Mmab T C 5: 114,574,526 (GRCm39) probably benign Het
Mrc1 T C 2: 14,266,011 (GRCm39) S310P probably benign Het
Mrps21 T C 3: 95,770,197 (GRCm39) Y44C probably null Het
Myh10 T A 11: 68,590,317 (GRCm39) F121Y probably damaging Het
Myo1f A G 17: 33,820,677 (GRCm39) D840G probably damaging Het
Neb T A 2: 52,196,542 (GRCm39) D553V probably damaging Het
Nol6 G T 4: 41,119,572 (GRCm39) probably benign Het
Npr2 G T 4: 43,632,329 (GRCm39) V49L probably benign Het
Ntsr2 T C 12: 16,704,120 (GRCm39) I207T probably benign Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Oas3 T A 5: 120,896,940 (GRCm39) I894F probably damaging Het
Oprd1 A G 4: 131,841,299 (GRCm39) F220L probably benign Het
Or11j4 T A 14: 50,630,659 (GRCm39) F149I probably benign Het
Or2aj4 T A 16: 19,384,799 (GRCm39) Y278F probably damaging Het
Or2r2 A T 6: 42,463,869 (GRCm39) M86K probably benign Het
Or8b57 T C 9: 40,003,983 (GRCm39) N93S possibly damaging Het
Pkd1l3 G T 8: 110,347,103 (GRCm39) G159C unknown Het
Plcb4 T C 2: 135,803,689 (GRCm39) S521P probably benign Het
Plcl1 A T 1: 55,752,634 (GRCm39) I993F probably damaging Het
Plcxd1 T A 5: 110,249,368 (GRCm39) V65E probably damaging Het
Plekha7 T C 7: 115,756,743 (GRCm39) S640G probably damaging Het
Ptprn2 A C 12: 117,240,222 (GRCm39) N993T probably benign Het
Rabepk T C 2: 34,685,318 (GRCm39) D26G possibly damaging Het
Reck A G 4: 43,930,936 (GRCm39) N646D probably damaging Het
Rfx2 A T 17: 57,093,736 (GRCm39) probably benign Het
Ripk2 G A 4: 16,123,868 (GRCm39) Q436* probably null Het
Ryr1 C T 7: 28,704,992 (GRCm39) probably benign Het
Sema6b A G 17: 56,435,271 (GRCm39) V324A possibly damaging Het
Sik2 C A 9: 50,909,833 (GRCm39) M73I probably benign Het
Slc39a6 T C 18: 24,732,326 (GRCm39) K321E probably damaging Het
Slc7a4 C A 16: 17,391,875 (GRCm39) V520F probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Spink14 T C 18: 44,161,830 (GRCm39) V2A probably benign Het
Sptan1 C A 2: 29,893,679 (GRCm39) probably benign Het
Stab1 C T 14: 30,879,027 (GRCm39) probably benign Het
Tbc1d17 C T 7: 44,493,495 (GRCm39) probably benign Het
Tbcd T A 11: 121,394,590 (GRCm39) L49* probably null Het
Tmco6 A G 18: 36,875,160 (GRCm39) T477A probably benign Het
Tmem208 C T 8: 106,054,857 (GRCm39) A53V probably benign Het
Tpp2 A G 1: 44,020,908 (GRCm39) T837A possibly damaging Het
Tulp4 A T 17: 6,252,008 (GRCm39) N60I probably damaging Het
Ubqlnl A T 7: 103,798,145 (GRCm39) W451R probably damaging Het
Usp53 G T 3: 122,746,956 (GRCm39) C363* probably null Het
Usp7 A T 16: 8,509,282 (GRCm39) H1017Q probably benign Het
Vmn1r194 A T 13: 22,428,641 (GRCm39) Y86F probably benign Het
Vmn1r195 A T 13: 22,463,409 (GRCm39) H293L possibly damaging Het
Vmn1r231 T C 17: 21,109,998 (GRCm39) R306G probably benign Het
Vmn2r63 T C 7: 42,576,514 (GRCm39) probably benign Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Vmn2r85 T C 10: 130,261,770 (GRCm39) D189G probably damaging Het
Vps8 A G 16: 21,296,273 (GRCm39) E515G possibly damaging Het
Wdr18 C A 10: 79,796,937 (GRCm39) Y104* probably null Het
Wnk4 A T 11: 101,156,261 (GRCm39) D43V probably damaging Het
Xab2 A T 8: 3,663,880 (GRCm39) N346K probably damaging Het
Xirp2 T C 2: 67,342,484 (GRCm39) V1575A possibly damaging Het
Zdhhc12 C T 2: 29,982,547 (GRCm39) R50H probably damaging Het
Zdhhc8 A G 16: 18,043,064 (GRCm39) S379P probably benign Het
Zfp458 G A 13: 67,407,673 (GRCm39) Q58* probably null Het
Zfp747 A T 7: 126,973,772 (GRCm39) S133T probably benign Het
Other mutations in Utp4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCTCAAGTTCCCCAGTCATACTCC -3'
(R):5'- TGACAGCCCAGTTCTTTGACACC -3'

Sequencing Primer
(F):5'- CCAAGGGCAGGAAAGATTGT -3'
(R):5'- tgtgtgtccccagagcc -3'
Posted On 2013-05-23