Incidental Mutation 'IGL03236:Utp6'
ID414071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp6
Ensembl Gene ENSMUSG00000035575
Gene NameUTP6 small subunit processome component
SynonymsHCA66, 4732497O03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #IGL03236
Quality Score
Status
Chromosome11
Chromosomal Location79932321-79962390 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 79960741 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043152] [ENSMUST00000108241]
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: ENSMUST00000146127
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,519,916 T11A probably benign Het
Abca17 A G 17: 24,326,476 probably benign Het
Aox2 G T 1: 58,309,997 E641* probably null Het
Arhgef10l G T 4: 140,611,360 D30E probably damaging Het
Arhgef37 A T 18: 61,523,826 I56N probably damaging Het
Cwf19l1 T C 19: 44,127,448 I181V probably benign Het
Dnaic2 A G 11: 114,757,249 probably benign Het
Elp2 A G 18: 24,622,243 probably benign Het
Epb41l4a G A 18: 33,810,219 S541L probably damaging Het
Ibsp A C 5: 104,306,005 N70H probably benign Het
Ikzf1 A G 11: 11,707,848 E35G probably damaging Het
Kdm5a T C 6: 120,438,988 V1623A probably damaging Het
Kpna7 A T 5: 144,985,694 V499E unknown Het
Krtap4-16 C A 11: 99,851,136 R146L unknown Het
Map2k5 T A 9: 63,286,392 probably benign Het
Mfn2 A G 4: 147,882,105 F543S probably damaging Het
Mical3 A G 6: 120,969,384 L1052P probably benign Het
Mycbp2 T C 14: 103,298,698 N272S probably damaging Het
Ndel1 A G 11: 68,842,150 Y87H probably benign Het
Ndnf G A 6: 65,696,172 V45M possibly damaging Het
Nr3c1 A G 18: 39,486,391 I281T probably benign Het
Ntm A G 9: 29,109,506 V139A probably benign Het
Olfr205 A C 16: 59,328,837 V224G probably damaging Het
Pkhd1l1 T G 15: 44,581,826 V3698G probably damaging Het
Plcb1 A G 2: 135,346,306 Y773C probably damaging Het
Prkaca T A 8: 83,990,445 F138Y probably damaging Het
Qser1 T C 2: 104,786,532 T1312A probably benign Het
Slc47a2 T C 11: 61,313,679 E282G probably damaging Het
Smchd1 G A 17: 71,391,430 T1117I possibly damaging Het
Vmn1r66 T A 7: 10,275,063 K14N probably damaging Het
Vmn1r71 A T 7: 10,748,284 V93E probably benign Het
Zfp768 G A 7: 127,343,970 L329F possibly damaging Het
Other mutations in Utp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Utp6 APN 11 79955705 nonsense probably null
IGL02889:Utp6 APN 11 79949070 missense possibly damaging 0.88
IGL03028:Utp6 APN 11 79953624 missense probably damaging 0.99
IGL03040:Utp6 APN 11 79936113 splice site probably benign
IGL03084:Utp6 APN 11 79962216 critical splice donor site probably null
PIT4382001:Utp6 UTSW 11 79962273 missense probably benign 0.02
R0082:Utp6 UTSW 11 79953631 missense possibly damaging 0.80
R0140:Utp6 UTSW 11 79956725 splice site probably benign
R0962:Utp6 UTSW 11 79941868 splice site probably benign
R1485:Utp6 UTSW 11 79948923 missense probably damaging 1.00
R2376:Utp6 UTSW 11 79955613 missense probably damaging 0.99
R2380:Utp6 UTSW 11 79936005 missense possibly damaging 0.67
R4065:Utp6 UTSW 11 79946247 missense probably damaging 1.00
R5465:Utp6 UTSW 11 79949010 missense probably benign 0.08
R5774:Utp6 UTSW 11 79953598 missense probably benign
R6842:Utp6 UTSW 11 79940949 missense probably benign 0.00
R7507:Utp6 UTSW 11 79942186 missense possibly damaging 0.53
R7793:Utp6 UTSW 11 79937730 missense probably benign 0.00
R8349:Utp6 UTSW 11 79945784 missense probably benign 0.00
R8449:Utp6 UTSW 11 79945784 missense probably benign 0.00
R8856:Utp6 UTSW 11 79951629 missense probably benign 0.12
R8930:Utp6 UTSW 11 79943229 critical splice donor site probably null
R8932:Utp6 UTSW 11 79943229 critical splice donor site probably null
Z1176:Utp6 UTSW 11 79935962 missense probably damaging 1.00
Z1177:Utp6 UTSW 11 79941909 missense probably damaging 1.00
Posted On2016-08-02