Incidental Mutation 'PIT4480001:Utp4'
ID554865
Institutional Source Beutler Lab
Gene Symbol Utp4
Ensembl Gene ENSMUSG00000041438
Gene NameUTP4 small subunit processome component
SynonymsTex292, TEG-292, Cirh1a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #PIT4480001 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location106893636-106923088 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106906185 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 267 (S267P)
Ref Sequence ENSEMBL: ENSMUSP00000048377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047629]
Predicted Effect probably benign
Transcript: ENSMUST00000047629
AA Change: S267P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: S267P

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
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 83.8%
  • 20x: 69.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,283,752 M4475V probably benign Het
Actn3 G A 19: 4,867,577 Q413* probably null Het
Ahnak2 C T 12: 112,773,924 S1238N possibly damaging Het
Arsk T C 13: 76,062,365 E521G probably damaging Het
Baiap2 A G 11: 119,997,087 T356A probably benign Het
Baz1b G A 5: 135,217,965 R756H probably damaging Het
Celsr1 G A 15: 86,032,414 P453S probably damaging Het
Cep41 G A 6: 30,658,413 P196S probably damaging Het
Cln5 T A 14: 103,071,778 Y89* probably null Het
Cntnap3 A G 13: 64,757,210 F919S probably damaging Het
Cntrl C T 2: 35,155,428 H1383Y probably damaging Het
Cobl A G 11: 12,253,592 S1037P probably benign Het
Col17a1 A T 19: 47,671,374 S380T probably benign Het
Dagla A T 19: 10,260,658 S323T probably benign Het
Dicer1 G T 12: 104,696,544 Q1593K probably benign Het
Dnah6 T C 6: 73,101,880 I2367V probably benign Het
Emc1 T C 4: 139,359,277 S184P possibly damaging Het
Eps8l1 G A 7: 4,471,415 S295N probably benign Het
Erbb4 A T 1: 68,075,543 M914K probably damaging Het
Eva1a A G 6: 82,091,803 E37G probably damaging Het
Fam49b G A 15: 63,956,641 T11I probably benign Het
Fyco1 G T 9: 123,828,650 Y820* probably null Het
Gipr T C 7: 19,162,934 Y137C probably damaging Het
Gm5414 A G 15: 101,627,746 V148A probably damaging Het
Gpn1 T C 5: 31,497,341 V79A probably damaging Het
Grk2 G A 19: 4,287,409 R617C possibly damaging Het
Inpp4b A C 8: 82,046,267 E730A probably damaging Het
Inpp5f C T 7: 128,685,134 T579I probably benign Het
Kif15 A T 9: 123,011,543 M1201L probably benign Het
Ltbp3 A G 19: 5,751,226 N631S possibly damaging Het
Mdh1 G A 11: 21,558,538 S268L probably damaging Het
Mgat4e T A 1: 134,541,365 T314S possibly damaging Het
Nsd1 A G 13: 55,213,918 Q233R probably benign Het
Olfr1141 T C 2: 87,753,783 D70G possibly damaging Het
Olfr738 T C 14: 50,413,915 F124L probably benign Het
Paqr5 T A 9: 61,956,156 I295L probably benign Het
Peg10 C T 6: 4,756,560 H379Y unknown Het
Phtf2 A T 5: 20,813,244 I33N probably damaging Het
Plcb2 T C 2: 118,723,496 M115V probably benign Het
Ppp2r3a A G 9: 101,126,377 Y431H possibly damaging Het
Prph2 GT G 17: 46,911,113 probably null Het
Psmd1 C T 1: 86,128,238 P774L probably damaging Het
Ranbp17 A T 11: 33,297,340 probably null Het
Rptn A G 3: 93,397,670 D770G possibly damaging Het
Serac1 A G 17: 6,050,812 L439P probably damaging Het
Slitrk6 TTTTAGTCTGTTCTACCAACACCTT TTT 14: 110,749,825 probably null Het
Sox6 T C 7: 115,597,509 I295M probably benign Het
Sulf1 T A 1: 12,859,413 D301E probably benign Het
Tas2r117 G A 6: 132,803,051 V51I possibly damaging Het
Tbx2 C T 11: 85,834,735 R171C probably damaging Het
Tgfbr1 A G 4: 47,402,955 I320V probably benign Het
Tjp3 C A 10: 81,279,257 G396W probably damaging Het
Tmprss2 T C 16: 97,599,260 N4D possibly damaging Het
Tnfaip3 T C 10: 19,007,323 N165D probably benign Het
Tnfrsf21 A T 17: 43,037,911 Y138F probably benign Het
Wnk1 A T 6: 119,963,367 L803* probably null Het
Zbbx T A 3: 75,136,487 D35V probably damaging Het
Zscan12 T G 13: 21,368,574 N189K possibly damaging Het
Other mutations in Utp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Utp4 APN 8 106894698 missense probably benign 0.02
IGL01871:Utp4 APN 8 106912317 missense probably benign
IGL02100:Utp4 APN 8 106898175 missense probably benign 0.00
IGL02501:Utp4 APN 8 106906241 missense probably benign 0.16
IGL02948:Utp4 APN 8 106894641 missense probably benign 0.31
IGL03210:Utp4 APN 8 106916256 missense probably benign
Cheyenne_canon UTSW 8 106912275 missense probably damaging 1.00
R0066:Utp4 UTSW 8 106922898 missense possibly damaging 0.70
R0066:Utp4 UTSW 8 106922898 missense possibly damaging 0.70
R0145:Utp4 UTSW 8 106894669 missense probably benign 0.02
R0158:Utp4 UTSW 8 106913386 missense probably null
R0360:Utp4 UTSW 8 106898537 unclassified probably benign
R0364:Utp4 UTSW 8 106898537 unclassified probably benign
R0382:Utp4 UTSW 8 106922935 missense probably benign 0.01
R0798:Utp4 UTSW 8 106922226 missense probably benign 0.00
R1164:Utp4 UTSW 8 106900844 critical splice acceptor site probably null
R1381:Utp4 UTSW 8 106906276 missense probably benign 0.02
R1440:Utp4 UTSW 8 106898053 unclassified probably benign
R1711:Utp4 UTSW 8 106918720 missense probably damaging 1.00
R1839:Utp4 UTSW 8 106913454 missense probably benign
R1903:Utp4 UTSW 8 106912350 critical splice donor site probably null
R2060:Utp4 UTSW 8 106898521 missense probably benign 0.33
R2938:Utp4 UTSW 8 106922929 missense probably damaging 1.00
R5526:Utp4 UTSW 8 106917633 missense possibly damaging 0.70
R5562:Utp4 UTSW 8 106922925 missense probably benign 0.00
R5764:Utp4 UTSW 8 106917616 missense possibly damaging 0.81
R5814:Utp4 UTSW 8 106912275 missense probably damaging 1.00
R6310:Utp4 UTSW 8 106918621 missense probably benign 0.16
R6478:Utp4 UTSW 8 106904446 critical splice donor site probably null
R6523:Utp4 UTSW 8 106898463 missense probably damaging 0.98
R7329:Utp4 UTSW 8 106913463 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATGGAACTGCTACTGGGAG -3'
(R):5'- GCTTTCATGAAGAGAACAGCC -3'

Sequencing Primer
(F):5'- GGAGCCTCCCTGCTAATTCAG -3'
(R):5'- CTTTCATGAAGAGAACAGCCTGAGC -3'
Posted On2019-06-07