Incidental Mutation 'IGL03084:Utp6'
ID 418030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp6
Ensembl Gene ENSMUSG00000035575
Gene Name UTP6 small subunit processome component
Synonyms HCA66, 4732497O03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # IGL03084
Quality Score
Status
Chromosome 11
Chromosomal Location 79824782-79853213 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 79853042 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 null
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 null
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: ENSMUST00000146127
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,768,261 (GRCm39) V211L probably damaging Het
BC024139 T C 15: 76,004,007 (GRCm39) D753G probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cachd1 T A 4: 100,860,285 (GRCm39) D1285E probably damaging Het
Cacna1b T C 2: 24,499,944 (GRCm39) T147A probably benign Het
Cdc14a A G 3: 116,142,101 (GRCm39) probably null Het
Cfhr4 T A 1: 139,708,880 (GRCm39) L9F possibly damaging Het
Chd1 A G 17: 15,990,560 (GRCm39) H1704R probably benign Het
Dmkn T G 7: 30,470,481 (GRCm39) N367K possibly damaging Het
Fam151b C A 13: 92,604,534 (GRCm39) D152Y probably damaging Het
Gabrg3 T C 7: 56,384,812 (GRCm39) S250G possibly damaging Het
Gm28042 A G 2: 119,870,986 (GRCm39) Q833R probably benign Het
Gnpat A C 8: 125,605,638 (GRCm39) Y336S probably damaging Het
Ighv1-54 G A 12: 115,157,736 (GRCm39) probably benign Het
Irag1 A G 7: 110,485,036 (GRCm39) probably benign Het
Kif2c T C 4: 117,035,355 (GRCm39) N31S possibly damaging Het
Larp1 T A 11: 57,947,921 (GRCm39) L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 (GRCm39) P238S probably damaging Het
Lypd10 T C 7: 24,413,605 (GRCm39) I207T possibly damaging Het
Lztfl1 C T 9: 123,538,641 (GRCm39) G152E probably damaging Het
Man2a2 T C 7: 80,002,691 (GRCm39) T1097A possibly damaging Het
Myh4 A G 11: 67,142,777 (GRCm39) probably null Het
Nab2 C T 10: 127,500,346 (GRCm39) V249M probably damaging Het
Nid2 A T 14: 19,819,000 (GRCm39) D498V probably benign Het
Nrap T C 19: 56,353,886 (GRCm39) T404A probably damaging Het
Or51i1 A G 7: 103,670,838 (GRCm39) V229A probably benign Het
Or5al7 A T 2: 85,992,569 (GRCm39) C241* probably null Het
Or5c1 T C 2: 37,222,413 (GRCm39) I218T probably damaging Het
Or8c9 T G 9: 38,241,513 (GRCm39) I210S probably damaging Het
Pard3 A G 8: 128,319,573 (GRCm39) I1104V probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppfia3 A G 7: 44,989,651 (GRCm39) V1187A probably benign Het
Ppp1r16b G A 2: 158,603,413 (GRCm39) W346* probably null Het
Rpl4 A G 9: 64,085,599 (GRCm39) probably benign Het
Scn8a A T 15: 100,915,053 (GRCm39) I1206F probably damaging Het
Slc5a2 T C 7: 127,865,776 (GRCm39) S61P probably benign Het
Smarcal1 T C 1: 72,638,094 (GRCm39) probably null Het
Smyd4 A G 11: 75,281,433 (GRCm39) H302R probably benign Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Stx8 C T 11: 67,911,782 (GRCm39) Q167* probably null Het
Sycp2 C A 2: 178,033,584 (GRCm39) probably benign Het
Ttn A T 2: 76,626,742 (GRCm39) V13088D probably damaging Het
Ugt2b1 T A 5: 87,074,243 (GRCm39) M39L probably benign Het
Vmn1r189 A T 13: 22,286,008 (GRCm39) Y276* probably null Het
Vmn2r11 T A 5: 109,207,209 (GRCm39) D37V probably benign Het
Vmn2r16 T G 5: 109,478,292 (GRCm39) F16V probably damaging Het
Vmn2r65 A T 7: 84,592,354 (GRCm39) M538K probably damaging Het
Zfp143 T A 7: 109,668,818 (GRCm39) 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
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
R0962:Utp6 UTSW 11 79,832,694 (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
Posted On 2016-08-02