Incidental Mutation 'R6796:Utp23'
ID 533028
Institutional Source Beutler Lab
Gene Symbol Utp23
Ensembl Gene ENSMUSG00000022313
Gene Name UTP23 small subunit processome component
Synonyms 1700010I21Rik, D530033C11Rik
MMRRC Submission 044909-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6796 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 51740837-51748018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51741007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 30 (L30Q)
Ref Sequence ENSEMBL: ENSMUSP00000050603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059599] [ENSMUST00000136129] [ENSMUST00000137116] [ENSMUST00000161651]
AlphaFold Q9CX11
Predicted Effect probably damaging
Transcript: ENSMUST00000059599
AA Change: L30Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000136129
SMART Domains Protein: ENSMUSP00000124832
Gene: ENSMUSG00000022313

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 possibly damaging
Transcript: ENSMUST00000137116
AA Change: L30Q

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119261
Gene: ENSMUSG00000022313
AA Change: L30Q

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 unknown
Transcript: ENSMUST00000161651
AA Change: L30Q
SMART Domains Protein: ENSMUSP00000124157
Gene: ENSMUSG00000022313
AA Change: L30Q

DomainStartEndE-ValueType
low complexity region 37 49 N/A INTRINSIC
low complexity region 57 81 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,620,597 (GRCm39) V3950A probably damaging Het
App A G 16: 84,917,455 (GRCm39) I63T probably damaging Het
Bpifb4 A T 2: 153,803,467 (GRCm39) K381N probably damaging Het
Cdc45 C T 16: 18,603,607 (GRCm39) A529T probably damaging Het
Cdh18 T A 15: 23,446,159 (GRCm39) N536K probably damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
E2f3 A G 13: 30,102,568 (GRCm39) V231A possibly damaging Het
F930015N05Rik A T 11: 64,326,229 (GRCm39) probably benign Het
Fcer2a T C 8: 3,739,830 (GRCm39) H47R possibly damaging Het
Hcar2 A G 5: 124,003,330 (GRCm39) S58P probably benign Het
Hivep3 A G 4: 119,953,558 (GRCm39) T625A possibly damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Itgax C T 7: 127,734,236 (GRCm39) A336V probably damaging Het
Lin37 A T 7: 30,256,341 (GRCm39) V140E probably damaging Het
Malrd1 T A 2: 15,874,595 (GRCm39) I1341K unknown Het
Map4k5 T C 12: 69,864,799 (GRCm39) I561V probably benign Het
Mcc A G 18: 44,857,627 (GRCm39) S163P probably benign Het
Nlrp12 T C 7: 3,290,039 (GRCm39) T158A probably damaging Het
Or5an6 A T 19: 12,372,292 (GRCm39) I222F probably damaging Het
Or5b119 A G 19: 13,457,278 (GRCm39) C95R probably damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pax8 A T 2: 24,331,098 (GRCm39) M200K probably benign Het
Plcd4 T C 1: 74,601,229 (GRCm39) S498P probably benign Het
Poglut1 T C 16: 38,349,972 (GRCm39) Y267C probably damaging Het
Pom121l2 T C 13: 22,167,694 (GRCm39) I655T probably benign Het
Proca1 G T 11: 78,085,754 (GRCm39) R19L probably benign Het
Prr30 A G 14: 101,436,380 (GRCm39) S61P probably benign Het
Ranbp17 T C 11: 33,167,398 (GRCm39) S1022G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpgrip1 A G 14: 52,387,469 (GRCm39) H1037R probably damaging Het
Rpl34 G T 3: 130,522,926 (GRCm39) T6K probably damaging Het
Scaper T C 9: 55,771,711 (GRCm39) T402A probably benign Het
Selenow A T 7: 15,653,996 (GRCm39) V52E probably damaging Het
Septin14 T A 5: 129,774,822 (GRCm39) I118L probably benign Het
Sis A T 3: 72,872,951 (GRCm39) N62K probably benign Het
Sit1 A T 4: 43,482,761 (GRCm39) C133S probably benign Het
Susd3 ACC AC 13: 49,391,041 (GRCm39) probably null Het
Svep1 A G 4: 58,064,275 (GRCm39) V3236A probably benign Het
Taf12 G A 4: 132,016,725 (GRCm39) V168I possibly damaging Het
Tas2r139 A T 6: 42,118,526 (GRCm39) R219S probably damaging Het
Tmc1 A T 19: 20,776,400 (GRCm39) V653D probably damaging 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
R0714:Utp23 UTSW 15 51,745,665 (GRCm39) missense possibly damaging 0.48
R5000:Utp23 UTSW 15 51,745,569 (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'- CTGTGGAAATAAGGGAGTGTACTTC -3'
(R):5'- AAGGCACAGTACCATCTGCC -3'

Sequencing Primer
(F):5'- AGTGTACTTCCGGGTCGAAG -3'
(R):5'- ACTTTTCGGTCAGTCGCG -3'
Posted On 2018-08-29