Incidental Mutation 'R0962:Utp6'
ID 81296
Institutional Source Beutler Lab
Gene Symbol Utp6
Ensembl Gene ENSMUSG00000035575
Gene Name UTP6 small subunit processome component
Synonyms HCA66, 4732497O03Rik
MMRRC Submission 039091-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R0962 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 79824782-79853213 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 79832694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043152] [ENSMUST00000108241]
AlphaFold Q8VCY6
Predicted Effect probably benign
Transcript: ENSMUST00000043152
SMART Domains Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575

DomainStartEndE-ValueType
Blast:HAT 25 63 5e-11 BLAST
HAT 87 119 6.33e2 SMART
HAT 121 153 5.54e-1 SMART
HAT 156 188 2.41e-1 SMART
HAT 305 336 4.13e0 SMART
Blast:HAT 350 382 1e-11 BLAST
Blast:HAT 418 451 2e-9 BLAST
Blast:HAT 454 487 3e-12 BLAST
HAT 489 521 8.05e0 SMART
HAT 525 558 9.13e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108241
SMART Domains Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575

DomainStartEndE-ValueType
Blast:HAT 25 63 5e-11 BLAST
HAT 87 119 6.33e2 SMART
HAT 121 153 5.54e-1 SMART
HAT 156 188 2.41e-1 SMART
HAT 305 336 4.13e0 SMART
Blast:HAT 350 382 1e-11 BLAST
Blast:HAT 418 451 2e-9 BLAST
Blast:HAT 454 487 3e-12 BLAST
HAT 489 521 8.05e0 SMART
HAT 525 558 9.13e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131921
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.9%
  • 20x: 96.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,202,129 (GRCm39) A196T probably damaging Het
Adamtsl4 T A 3: 95,591,798 (GRCm39) R97* probably null Het
Adgrv1 T C 13: 81,553,465 (GRCm39) I5470V probably benign Het
Afg3l2 T C 18: 67,538,497 (GRCm39) T754A possibly damaging Het
Agfg1 T C 1: 82,864,117 (GRCm39) F395S probably damaging Het
Ahnak A G 19: 8,990,212 (GRCm39) probably benign Het
Alkbh2 T C 5: 114,262,014 (GRCm39) K239E possibly damaging Het
Ankmy1 A T 1: 92,827,290 (GRCm39) C87* probably null Het
Apob A G 12: 8,039,191 (GRCm39) I461V probably damaging Het
Arap1 C T 7: 101,034,121 (GRCm39) P188S possibly damaging Het
Atp12a G A 14: 56,605,870 (GRCm39) E64K probably damaging Het
Brca1 A T 11: 101,416,192 (GRCm39) H647Q possibly damaging Het
Cachd1 A G 4: 100,840,498 (GRCm39) probably benign Het
Cep57 A T 9: 13,720,039 (GRCm39) V429D possibly damaging Het
Cfap299 T C 5: 98,714,420 (GRCm39) probably benign Het
Dip2a T C 10: 76,128,266 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,353,696 (GRCm39) N757K probably damaging Het
Dock7 G A 4: 98,833,432 (GRCm39) T1953I possibly damaging Het
Ebf3 T C 7: 136,826,932 (GRCm39) T111A probably damaging Het
Ercc4 T C 16: 12,948,010 (GRCm39) I319T probably damaging Het
Fat1 T C 8: 45,486,363 (GRCm39) probably benign Het
Gucy2g C T 19: 55,198,716 (GRCm39) W809* probably null Het
Hhipl1 A G 12: 108,293,980 (GRCm39) K629E probably benign Het
Hmbox1 A T 14: 65,134,223 (GRCm39) S126T probably benign Het
Htr1a A G 13: 105,580,832 (GRCm39) N24S probably benign Het
Htra3 T A 5: 35,825,700 (GRCm39) I185F probably damaging Het
Impg1 C T 9: 80,289,023 (GRCm39) D345N probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm7a A G 6: 39,124,128 (GRCm39) V720A probably benign Het
Kirrel3 A G 9: 34,912,293 (GRCm39) D212G possibly damaging Het
Lgals3bp A T 11: 118,283,846 (GRCm39) *139K probably null Het
Lrp11 T A 10: 7,466,060 (GRCm39) V82D probably benign Het
Mcf2l T C 8: 13,051,964 (GRCm39) Y425H probably benign Het
Mfn2 T C 4: 147,966,658 (GRCm39) N511S probably benign Het
Mical2 T C 7: 111,979,624 (GRCm39) S108P probably damaging Het
Ms4a6c C T 19: 11,448,506 (GRCm39) T13M probably benign Het
Naip2 C A 13: 100,315,893 (GRCm39) V296F probably damaging Het
Or2d36 T A 7: 106,747,294 (GRCm39) F257Y possibly damaging Het
Or51a5 A G 7: 102,771,217 (GRCm39) V254A possibly damaging Het
Or7e175 T A 9: 20,048,834 (GRCm39) C141S probably damaging Het
P3h2 T C 16: 25,815,998 (GRCm39) M172V probably benign Het
Pcolce2 T G 9: 95,552,087 (GRCm39) N73K probably benign Het
Pla2g4d A G 2: 120,111,098 (GRCm39) probably null Het
Ppfia3 A G 7: 44,997,146 (GRCm39) probably benign Het
Ptprcap A G 19: 4,206,463 (GRCm39) D182G possibly damaging Het
Rabgap1 T C 2: 37,450,481 (GRCm39) probably benign Het
Rpain G A 11: 70,865,867 (GRCm39) probably null Het
Sdk1 C T 5: 142,147,630 (GRCm39) T1754I probably damaging Het
Stag1 T A 9: 100,678,880 (GRCm39) L267Q probably damaging Het
Tex9 T C 9: 72,391,374 (GRCm39) T92A probably benign Het
Trpa1 T A 1: 14,968,387 (GRCm39) I460F possibly damaging Het
Ttn A T 2: 76,780,500 (GRCm39) Y1084N probably damaging Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Other mutations in Utp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Utp6 APN 11 79,846,531 (GRCm39) nonsense probably null
IGL02889:Utp6 APN 11 79,839,896 (GRCm39) missense possibly damaging 0.88
IGL03028:Utp6 APN 11 79,844,450 (GRCm39) missense probably damaging 0.99
IGL03040:Utp6 APN 11 79,826,939 (GRCm39) splice site probably benign
IGL03084:Utp6 APN 11 79,853,042 (GRCm39) critical splice donor site probably null
IGL03236:Utp6 APN 11 79,851,567 (GRCm39) splice site probably benign
PIT4382001:Utp6 UTSW 11 79,853,099 (GRCm39) missense probably benign 0.02
R0082:Utp6 UTSW 11 79,844,457 (GRCm39) missense possibly damaging 0.80
R0140:Utp6 UTSW 11 79,847,551 (GRCm39) splice site probably benign
R1485:Utp6 UTSW 11 79,839,749 (GRCm39) missense probably damaging 1.00
R2376:Utp6 UTSW 11 79,846,439 (GRCm39) missense probably damaging 0.99
R2380:Utp6 UTSW 11 79,826,831 (GRCm39) missense possibly damaging 0.67
R4065:Utp6 UTSW 11 79,837,073 (GRCm39) missense probably damaging 1.00
R5465:Utp6 UTSW 11 79,839,836 (GRCm39) missense probably benign 0.08
R5774:Utp6 UTSW 11 79,844,424 (GRCm39) missense probably benign
R6842:Utp6 UTSW 11 79,831,775 (GRCm39) missense probably benign 0.00
R7507:Utp6 UTSW 11 79,833,012 (GRCm39) missense possibly damaging 0.53
R7793:Utp6 UTSW 11 79,828,556 (GRCm39) missense probably benign 0.00
R8349:Utp6 UTSW 11 79,836,610 (GRCm39) missense probably benign 0.00
R8449:Utp6 UTSW 11 79,836,610 (GRCm39) missense probably benign 0.00
R8856:Utp6 UTSW 11 79,842,455 (GRCm39) missense probably benign 0.12
R8930:Utp6 UTSW 11 79,834,055 (GRCm39) critical splice donor site probably null
R8932:Utp6 UTSW 11 79,834,055 (GRCm39) critical splice donor site probably null
R9282:Utp6 UTSW 11 79,826,851 (GRCm39) missense probably benign 0.12
Z1176:Utp6 UTSW 11 79,826,788 (GRCm39) missense probably damaging 1.00
Z1177:Utp6 UTSW 11 79,832,735 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACTGACCCTTCGCCACCC -3'
(R):5'- ATCCTAAGTCACGATGACCTAGTAGCTC -3'

Sequencing Primer
(F):5'- caaactcgccccaagaaac -3'
(R):5'- ACAGGTGCCAGTTCAGTAAC -3'
Posted On 2013-11-07