Incidental Mutation 'IGL02501:Utp4'
ID 296039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp4
Ensembl Gene ENSMUSG00000041438
Gene Name UTP4 small subunit processome component
Synonyms Cirh1a, Tex292, TEG-292
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02501
Quality Score
Status
Chromosome 8
Chromosomal Location 107620268-107649720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107632873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 285 (H285Q)
Ref Sequence ENSEMBL: ENSMUSP00000048377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047629]
AlphaFold Q8R2N2
Predicted Effect probably benign
Transcript: ENSMUST00000047629
AA Change: H285Q

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: H285Q

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: ENSMUST00000212718
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,137,489 (GRCm39) I307F probably damaging Het
Adam15 G A 3: 89,247,769 (GRCm39) A789V possibly damaging Het
Bspry A G 4: 62,414,672 (GRCm39) T422A probably benign Het
Btnl6 T A 17: 34,734,648 (GRCm39) D38V possibly damaging Het
Cd59b G A 2: 103,909,273 (GRCm39) C18Y probably damaging Het
Clstn1 T G 4: 149,716,299 (GRCm39) I255R probably damaging Het
Dpp10 A G 1: 123,613,999 (GRCm39) L99P possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Emc1 A T 4: 139,098,295 (GRCm39) T759S probably benign Het
Fndc1 C T 17: 7,984,230 (GRCm39) G1232E unknown Het
Gjb3 C T 4: 127,220,157 (GRCm39) G125D probably damaging Het
Helb A G 10: 119,938,693 (GRCm39) S594P possibly damaging Het
Hycc2 C A 1: 58,579,350 (GRCm39) R229L probably damaging Het
Ildr1 T C 16: 36,542,712 (GRCm39) S371P probably damaging Het
Kif1b T A 4: 149,299,433 (GRCm39) R946W probably damaging Het
Lrp12 T C 15: 39,741,300 (GRCm39) T472A probably damaging Het
Lyst A G 13: 13,886,230 (GRCm39) D3031G probably benign Het
Med12l A T 3: 59,169,397 (GRCm39) T1596S possibly damaging Het
Myom1 A C 17: 71,379,076 (GRCm39) probably null Het
Nhlrc2 T A 19: 56,559,086 (GRCm39) Y190* probably null Het
Nol4 A T 18: 22,956,398 (GRCm39) N115K probably damaging Het
Nrg1 T A 8: 32,308,291 (GRCm39) probably null Het
Or7g26 T A 9: 19,229,999 (GRCm39) H56Q probably damaging Het
Oxld1 A C 11: 120,347,714 (GRCm39) L161R probably damaging Het
Phex A G X: 155,969,271 (GRCm39) S568P probably damaging Het
Pkd1 T G 17: 24,788,673 (GRCm39) S810R probably benign Het
Plin2 G T 4: 86,582,723 (GRCm39) C84* probably null Het
Ppfia3 A T 7: 45,004,362 (GRCm39) probably benign Het
Ptpn14 A G 1: 189,582,587 (GRCm39) N478S probably benign Het
Pygl A G 12: 70,237,908 (GRCm39) M801T probably benign Het
Recql5 A G 11: 115,785,917 (GRCm39) Y619H probably benign Het
Scn3a C A 2: 65,356,899 (GRCm39) D182Y possibly damaging Het
Serpinb6e T C 13: 34,016,785 (GRCm39) E316G possibly damaging Het
Shroom4 A G X: 6,495,998 (GRCm39) E386G possibly damaging Het
Slc4a2 A G 5: 24,634,432 (GRCm39) S24G probably benign Het
Slc4a4 A G 5: 89,277,508 (GRCm39) I282V probably benign Het
Slc8b1 C T 5: 120,658,918 (GRCm39) R148C probably damaging Het
Stag2 A G X: 41,360,202 (GRCm39) probably benign Het
Styx T A 14: 45,609,922 (GRCm39) H195Q probably benign Het
Sufu A G 19: 46,439,349 (GRCm39) I190V probably benign Het
Svep1 A G 4: 58,145,341 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,801,344 (GRCm39) I293T probably benign Het
Timp4 T A 6: 115,223,444 (GRCm39) I160F probably damaging Het
Tmem87a A T 2: 120,234,534 (GRCm39) V3E probably damaging Het
Vrk1 T G 12: 106,028,912 (GRCm39) S305A probably benign Het
Zfp329 G T 7: 12,545,106 (GRCm39) H139Q possibly damaging 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
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
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
Posted On 2015-04-16