Incidental Mutation 'R0714:Utp23'
ID 85928
Institutional Source Beutler Lab
Gene Symbol Utp23
Ensembl Gene ENSMUSG00000022313
Gene Name UTP23 small subunit processome component
Synonyms 1700010I21Rik, D530033C11Rik
MMRRC Submission 038897-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0714 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 51740837-51748018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51745665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 55 (V55G)
Ref Sequence ENSEMBL: ENSMUSP00000124832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059599] [ENSMUST00000136129] [ENSMUST00000137116] [ENSMUST00000161651]
AlphaFold Q9CX11
Predicted Effect probably benign
Transcript: ENSMUST00000059599
Predicted Effect possibly damaging
Transcript: ENSMUST00000136129
AA Change: V55G

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124832
Gene: ENSMUSG00000022313
AA Change: V55G

DomainStartEndE-ValueType
Pfam:Fcf1 1 44 4.7e-12 PFAM
low complexity region 85 93 N/A INTRINSIC
low complexity region 119 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137116
AA Change: V161G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119261
Gene: ENSMUSG00000022313
AA Change: V161G

DomainStartEndE-ValueType
Pfam:Fcf1 51 149 2.5e-32 PFAM
low complexity region 191 199 N/A INTRINSIC
low complexity region 225 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161651
SMART Domains Protein: ENSMUSP00000124157
Gene: ENSMUSG00000022313

DomainStartEndE-ValueType
low complexity region 37 49 N/A INTRINSIC
low complexity region 57 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227812
Meta Mutation Damage Score 0.1448 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17b G A 19: 21,655,973 (GRCm39) R85H probably damaging Het
Adamts13 A G 2: 26,876,997 (GRCm39) probably benign Het
Alb T C 5: 90,610,665 (GRCm39) S82P possibly damaging Het
Arhgap10 G A 8: 78,078,316 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,594,493 (GRCm39) probably null Het
Capn3 A T 2: 120,322,361 (GRCm39) Q359L probably benign Het
Ccdc110 A T 8: 46,396,047 (GRCm39) D646V possibly damaging Het
Ccr2 G A 9: 123,905,966 (GRCm39) G82D probably benign Het
Col6a4 A G 9: 105,895,102 (GRCm39) probably benign Het
Dhx29 T C 13: 113,064,499 (GRCm39) V58A possibly damaging Het
Dhx35 C A 2: 158,686,103 (GRCm39) Q593K probably benign Het
Dmd T C X: 83,353,503 (GRCm39) L2240P probably benign Het
Emc7 A G 2: 112,293,277 (GRCm39) N162S possibly damaging Het
Exoc7 A T 11: 116,184,120 (GRCm39) N483K probably benign Het
Fbxo34 T C 14: 47,767,486 (GRCm39) V282A probably damaging Het
Fndc3c1 A T X: 105,468,972 (GRCm39) Y1087* probably null Het
Kat2a A G 11: 100,602,178 (GRCm39) V192A probably damaging Het
Larp7 T C 3: 127,340,833 (GRCm39) D64G probably damaging Het
Lnx1 A G 5: 74,768,570 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nckipsd C A 9: 108,691,333 (GRCm39) probably benign Het
Ndufab1 A G 7: 121,695,960 (GRCm39) probably benign Het
Nedd4 G A 9: 72,638,728 (GRCm39) probably benign Het
Nrsn2 G A 2: 152,216,042 (GRCm39) R54* probably null Het
Nt5dc3 T A 10: 86,648,238 (GRCm39) V171E probably damaging Het
Nudt8 A G 19: 4,052,023 (GRCm39) *211W probably null Het
Nxph4 A G 10: 127,362,808 (GRCm39) S28P probably damaging Het
Or4f14b A G 2: 111,774,898 (GRCm39) V301A probably benign Het
Or8k17 A C 2: 86,066,498 (GRCm39) L227R probably damaging Het
Or9g4b A G 2: 85,616,743 (GRCm39) D296G probably damaging Het
Pcdhb15 A G 18: 37,607,674 (GRCm39) Y302C probably damaging Het
Pkdrej A G 15: 85,699,712 (GRCm39) S2075P possibly damaging Het
Sdhc A T 1: 170,957,488 (GRCm39) probably benign Het
Sidt2 A G 9: 45,858,358 (GRCm39) probably benign Het
Sik2 T C 9: 50,818,736 (GRCm39) M413V probably benign Het
Slc5a4b A G 10: 75,917,341 (GRCm39) F232L probably benign Het
Slx1b A T 7: 126,291,620 (GRCm39) I148N probably damaging Het
Spag17 C G 3: 99,987,472 (GRCm39) S1587R probably damaging Het
St13 T C 15: 81,267,228 (GRCm39) D74G probably benign Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tacc3 T C 5: 33,828,741 (GRCm39) probably benign Het
Tbx22 G A X: 106,728,731 (GRCm39) V421I probably benign Het
Tmc3 G A 7: 83,265,969 (GRCm39) A705T possibly damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tonsl T C 15: 76,517,921 (GRCm39) probably benign Het
Trpm6 T A 19: 18,815,451 (GRCm39) I1179N possibly damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Vps11 A G 9: 44,270,953 (GRCm39) V143A possibly damaging Het
Vps50 G T 6: 3,571,105 (GRCm39) V618F probably benign Het
Other mutations in Utp23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Utp23 APN 15 51,745,671 (GRCm39) missense probably benign 0.18
IGL02159:Utp23 APN 15 51,745,761 (GRCm39) missense probably benign 0.00
R0114:Utp23 UTSW 15 51,745,907 (GRCm39) missense probably damaging 0.98
R0703:Utp23 UTSW 15 51,745,752 (GRCm39) small deletion probably benign
R5000:Utp23 UTSW 15 51,745,569 (GRCm39) missense probably damaging 1.00
R6796:Utp23 UTSW 15 51,741,007 (GRCm39) missense probably damaging 1.00
R8195:Utp23 UTSW 15 51,745,598 (GRCm39) missense possibly damaging 0.92
R8497:Utp23 UTSW 15 51,745,614 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGTCAGCTTATTACTCTGCTCCAACC -3'
(R):5'- CCCTGCTGCTCAGAAGACACTTTC -3'

Sequencing Primer
(F):5'- AGAGTGTTGACTGATCCAGCC -3'
(R):5'- AAGCAGGGGACTTTGTATCC -3'
Posted On 2013-11-18