Incidental Mutation 'IGL01465:Utp4'
ID 88086
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 # IGL01465
Quality Score
Status
Chromosome 8
Chromosomal Location 107620268-107649720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107621330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 36 (T36A)
Ref Sequence ENSEMBL: ENSMUSP00000048377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047629] [ENSMUST00000169312] [ENSMUST00000175940] [ENSMUST00000176090] [ENSMUST00000176437] [ENSMUST00000176515] [ENSMUST00000212272] [ENSMUST00000177068]
AlphaFold Q8R2N2
Predicted Effect probably benign
Transcript: ENSMUST00000047629
AA Change: T36A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: T36A

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 probably benign
Transcript: ENSMUST00000169312
SMART Domains Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Ctf8 3 113 4.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176090
SMART Domains Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
Pfam:Ctf8 1 94 8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176437
SMART Domains Protein: ENSMUSP00000134860
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Ctf8 1 94 8e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212718
Predicted Effect probably benign
Transcript: ENSMUST00000212272
Predicted Effect probably benign
Transcript: ENSMUST00000177068
SMART Domains Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691

DomainStartEndE-ValueType
Pfam:Ctf8 3 113 4.3e-26 PFAM
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Utp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-18