Incidental Mutation 'IGL02159:Utp23'
ID 282365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp23
Ensembl Gene ENSMUSG00000022313
Gene Name UTP23 small subunit processome component
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL02159
Quality Score
Status
Chromosome 15
Chromosomal Location 51877429-51884614 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51882365 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 87 (R87K)
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 probably benign
Transcript: ENSMUST00000136129
AA Change: R87K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124832
Gene: ENSMUSG00000022313
AA Change: R87K

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: R193K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119261
Gene: ENSMUSG00000022313
AA Change: R193K

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 silent
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Capza1 T C 3: 104,864,371 D3G possibly damaging Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Hsdl1 A G 8: 119,566,414 V73A probably benign Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nif3l1 G T 1: 58,447,946 probably null Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Parl G A 16: 20,280,088 probably benign Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Surf1 A G 2: 26,915,651 L26P probably damaging Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Txnrd3 G A 6: 89,669,324 R295H probably damaging Het
Ubr5 G T 15: 37,991,379 probably benign Het
Unc45b C T 11: 82,940,181 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Utp23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Utp23 APN 15 51882275 missense probably benign 0.18
R0114:Utp23 UTSW 15 51882511 missense probably damaging 0.98
R0703:Utp23 UTSW 15 51882356 small deletion probably benign
R0714:Utp23 UTSW 15 51882269 missense possibly damaging 0.48
R5000:Utp23 UTSW 15 51882173 missense probably damaging 1.00
R6796:Utp23 UTSW 15 51877611 missense probably damaging 1.00
R8195:Utp23 UTSW 15 51882202 missense possibly damaging 0.92
R8497:Utp23 UTSW 15 51882218 missense probably damaging 1.00
Posted On 2015-04-16