Incidental Mutation 'R5562:Utp4'
ID 436659
Institutional Source Beutler Lab
Gene Symbol Utp4
Ensembl Gene ENSMUSG00000041438
Gene Name UTP4 small subunit processome component
Synonyms Cirh1a, Tex292, TEG-292
MMRRC Submission 043119-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5562 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 107620268-107649720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107649557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 669 (D669N)
Ref Sequence ENSEMBL: ENSMUSP00000048377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047629]
AlphaFold Q8R2N2
Predicted Effect probably benign
Transcript: ENSMUST00000047629
AA Change: D669N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: D669N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 G A 19: 20,679,628 (GRCm39) Q383* probably null Het
Alkbh3 A T 2: 93,826,724 (GRCm39) probably null Het
Amotl1 G A 9: 14,486,593 (GRCm39) P434S possibly damaging Het
Arfgef1 T C 1: 10,214,971 (GRCm39) E1641G probably damaging Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
C7 A T 15: 5,061,397 (GRCm39) Y317* probably null Het
Car4 A T 11: 84,854,924 (GRCm39) M91L probably benign Het
Ccdc7a T C 8: 129,785,266 (GRCm39) D98G possibly damaging Het
Cdc25b A G 2: 131,036,678 (GRCm39) M493V probably damaging Het
Cdhr3 C G 12: 33,101,054 (GRCm39) R452T probably benign Het
Col6a2 G A 10: 76,435,509 (GRCm39) Q909* probably null Het
Cyp2j8 A G 4: 96,358,890 (GRCm39) I343T probably damaging Het
Dcstamp G A 15: 39,617,798 (GRCm39) C69Y possibly damaging Het
Dnaaf8 C A 16: 4,791,940 (GRCm39) noncoding transcript Het
Efhc1 C T 1: 21,043,104 (GRCm39) T341I probably damaging Het
Elovl2 A G 13: 41,338,772 (GRCm39) *276Q probably null Het
Fnip1 T A 11: 54,380,168 (GRCm39) probably null Het
Foxc1 A G 13: 31,991,573 (GRCm39) H128R probably damaging Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Kif15 A T 9: 122,807,081 (GRCm39) Q44H probably damaging Het
Masp1 T C 16: 23,283,917 (GRCm39) probably null Het
Muc5b T C 7: 141,400,975 (GRCm39) I530T unknown Het
Ncoa4-ps T A 12: 119,225,957 (GRCm39) noncoding transcript Het
Nherf2 A G 17: 24,860,798 (GRCm39) V137A probably benign Het
Nudt7 C A 8: 114,874,723 (GRCm39) A93D probably damaging Het
Or5w1b T C 2: 87,476,063 (GRCm39) I135V probably benign Het
Pcdha8 A G 18: 37,126,024 (GRCm39) T169A possibly damaging Het
Prnp A G 2: 131,778,951 (GRCm39) D201G probably damaging Het
Serinc1 G A 10: 57,400,147 (GRCm39) Q167* probably null Het
Slc13a5 A G 11: 72,152,865 (GRCm39) V35A probably damaging Het
Slc30a6 C T 17: 74,719,700 (GRCm39) T220I possibly damaging Het
Slc7a7 T A 14: 54,646,269 (GRCm39) M65L probably benign Het
Speg T A 1: 75,403,700 (GRCm39) L2627Q probably damaging Het
Tank A G 2: 61,480,552 (GRCm39) T363A possibly damaging Het
Taok3 T A 5: 117,389,029 (GRCm39) L478Q probably damaging Het
Trim55 A T 3: 19,713,317 (GRCm39) M123L probably benign Het
Trpm2 A G 10: 77,795,773 (GRCm39) V118A possibly damaging Het
Ttn A T 2: 76,600,803 (GRCm39) Y17114N probably damaging Het
Unc5c A G 3: 141,474,291 (GRCm39) T214A probably damaging Het
Ush2a T A 1: 188,308,414 (GRCm39) V2021E probably damaging Het
Zfp560 G T 9: 20,261,883 (GRCm39) Y89* probably null Het
Zfp64 A G 2: 168,767,642 (GRCm39) S657P 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
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
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'- TGAGCCAACTCCACTACAGG -3'
(R):5'- ATGACCTTCATGCCACTGC -3'

Sequencing Primer
(F):5'- AACTCCACTACAGGGCTGG -3'
(R):5'- AGGAAATCTGTGCTCATTCTTTTAG -3'
Posted On 2016-10-24