Incidental Mutation 'R6710:Utp3'
ID 529090
Institutional Source Beutler Lab
Gene Symbol Utp3
Ensembl Gene ENSMUSG00000070697
Gene Name UTP3 small subunit processome component
Synonyms Crlz1, 2400011K09Rik
MMRRC Submission 044828-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 88702321-88703949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88703823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 451 (Y451H)
Ref Sequence ENSEMBL: ENSMUSP00000087896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090413]
AlphaFold Q9JI13
Predicted Effect probably damaging
Transcript: ENSMUST00000090413
AA Change: Y451H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087896
Gene: ENSMUSG00000070697
AA Change: Y451H

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
low complexity region 66 80 N/A INTRINSIC
low complexity region 86 114 N/A INTRINSIC
coiled coil region 141 176 N/A INTRINSIC
Pfam:Sas10_Utp3 226 306 5.1e-21 PFAM
low complexity region 334 348 N/A INTRINSIC
Pfam:Sas10 395 468 1e-31 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik G T 10: 87,061,923 (GRCm39) E124D probably benign Het
Aph1c T C 9: 66,741,802 (GRCm39) T27A probably benign Het
Ash2l T C 8: 26,309,740 (GRCm39) I507V possibly damaging Het
Cela2a C A 4: 141,549,554 (GRCm39) A74S probably damaging Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Drc1 A G 5: 30,520,429 (GRCm39) D590G possibly damaging Het
Epn1 A G 7: 5,100,303 (GRCm39) E472G probably damaging Het
Erfe A G 1: 91,300,128 (GRCm39) D318G probably damaging Het
Ifnar2 T C 16: 91,190,771 (GRCm39) C227R probably damaging Het
Marchf11 A G 15: 26,387,949 (GRCm39) Y268C probably damaging Het
Muc16 A T 9: 18,553,366 (GRCm39) I4309N possibly damaging Het
Nit2 A G 16: 56,980,493 (GRCm39) V95A possibly damaging Het
Nup205 T G 6: 35,224,308 (GRCm39) I2049S probably benign Het
Or2h1 T G 17: 37,404,638 (GRCm39) I43L probably damaging Het
Or7e175 C T 9: 20,049,378 (GRCm39) A322V probably benign Het
Pcdhb17 T C 18: 37,618,452 (GRCm39) S81P probably damaging Het
Plcg2 A G 8: 118,284,086 (GRCm39) I128V probably benign Het
Sem1 C A 6: 6,578,497 (GRCm39) E20* probably null Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Tmem26 T C 10: 68,559,884 (GRCm39) L52P probably damaging Het
Vmn2r103 T A 17: 20,032,239 (GRCm39) I671N probably damaging Het
Zbtb39 T A 10: 127,579,505 (GRCm39) I693N probably damaging Het
Zfp174 A G 16: 3,665,921 (GRCm39) E62G probably damaging Het
Other mutations in Utp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01512:Utp3 APN 5 88,703,803 (GRCm39) missense probably damaging 0.99
IGL02818:Utp3 APN 5 88,703,267 (GRCm39) nonsense probably null
IGL03115:Utp3 APN 5 88,703,179 (GRCm39) missense possibly damaging 0.65
PIT4515001:Utp3 UTSW 5 88,702,564 (GRCm39) missense probably benign 0.01
R4535:Utp3 UTSW 5 88,703,458 (GRCm39) missense probably benign
R7143:Utp3 UTSW 5 88,702,376 (GRCm39) start gained probably benign
R7188:Utp3 UTSW 5 88,702,621 (GRCm39) missense probably benign 0.08
R7295:Utp3 UTSW 5 88,702,376 (GRCm39) start gained probably benign
R7297:Utp3 UTSW 5 88,702,376 (GRCm39) start gained probably benign
R7459:Utp3 UTSW 5 88,703,412 (GRCm39) missense probably damaging 1.00
R7921:Utp3 UTSW 5 88,702,755 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGGCTGCTCTCAAGTACT -3'
(R):5'- AACCCCTAATTCCCTGCTGA -3'

Sequencing Primer
(F):5'- GGCTGCTCTCAAGTACTATAAGG -3'
(R):5'- TCCCTGCTGACAACAAATTTTAAAC -3'
Posted On 2018-07-24