Incidental Mutation 'R1485:Utp6'
ID163418
Institutional Source Beutler Lab
Gene Symbol Utp6
Ensembl Gene ENSMUSG00000035575
Gene NameUTP6 small subunit processome component
SynonymsHCA66, 4732497O03Rik
MMRRC Submission 039538-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #R1485 (G1)
Quality Score155
Status Not validated
Chromosome11
Chromosomal Location79932321-79962390 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 79948923 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 313 (V313G)
Ref Sequence ENSEMBL: ENSMUSP00000103876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043152] [ENSMUST00000108241]
Predicted Effect probably damaging
Transcript: ENSMUST00000043152
AA Change: V313G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: V313G

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 damaging
Transcript: ENSMUST00000108241
AA Change: V313G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: V313G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,285,580 Y1836C probably damaging Het
4930402H24Rik A G 2: 130,748,683 probably null Het
4931408C20Rik T G 1: 26,685,880 K73T possibly damaging Het
Adgrv1 A G 13: 81,579,619 S301P probably damaging Het
AI987944 C A 7: 41,374,530 G342* probably null Het
Alox5 A T 6: 116,424,164 F212I probably damaging Het
Apaf1 A T 10: 91,060,243 D322E probably benign Het
Aste1 T A 9: 105,397,810 Y355* probably null Het
Bloc1s6 T G 2: 122,746,143 probably null Het
Ccdc77 G A 6: 120,338,140 Q183* probably null Het
Ccdc92 T C 5: 124,836,271 T65A probably benign Het
Chrna2 C T 14: 66,143,363 A27V probably benign Het
Coch G T 12: 51,598,289 V209F probably damaging Het
Cops3 G A 11: 59,827,889 T193M possibly damaging Het
Cped1 T C 6: 22,132,388 probably null Het
D6Ertd527e A T 6: 87,111,085 S77C unknown Het
Defb7 A G 8: 19,495,094 probably null Het
Entpd6 T A 2: 150,768,923 probably null Het
Evc2 C T 5: 37,370,556 A303V probably benign Het
Fhod1 T C 8: 105,336,798 probably null Het
Gatsl2 T A 5: 134,137,133 L240Q probably damaging Het
Gcn1l1 T A 5: 115,574,617 F54I probably benign Het
Gm6768 A G 12: 119,261,050 noncoding transcript Het
Gm7104 C A 12: 88,285,563 noncoding transcript Het
Grid1 A T 14: 34,822,583 D37V probably damaging Het
Icam5 G A 9: 21,036,406 A560T probably benign Het
Igf2r A C 17: 12,691,285 I2019S probably damaging Het
Kcnj9 A G 1: 172,326,362 V65A probably benign Het
Kif3b T C 2: 153,322,931 probably null Het
Kmt2a T G 9: 44,826,928 probably benign Het
March6 T A 15: 31,498,693 T153S probably damaging Het
Mcam T A 9: 44,136,763 I72N probably damaging Het
Nkain3 T C 4: 20,484,932 I48M probably damaging Het
Nop58 T A 1: 59,698,345 I107N probably damaging Het
Notch2 A G 3: 98,100,257 H441R probably benign Het
Nr1d1 G A 11: 98,770,361 R360C probably benign Het
Olfr683 A G 7: 105,143,681 I210T probably benign Het
Pclo T C 5: 14,713,779 S4089P unknown Het
Pi4kb A G 3: 94,994,387 E455G probably damaging Het
Piezo1 T C 8: 122,482,049 Y2525C probably damaging Het
Pik3c2a A G 7: 116,417,673 V283A possibly damaging Het
Pramef8 G A 4: 143,417,618 R178Q probably benign Het
Rabgap1l A T 1: 160,733,680 V161E probably benign Het
Rasa2 A G 9: 96,544,348 I815T probably benign Het
Rev1 A T 1: 38,088,572 D202E probably benign Het
Sept14 C T 5: 129,693,054 A193T probably damaging Het
Sh3tc1 T C 5: 35,719,026 S112G probably benign Het
Siah3 T A 14: 75,525,554 Y82N probably benign Het
Slc2a7 T C 4: 150,166,396 S425P probably damaging Het
Slc9a2 C T 1: 40,726,388 L313F probably damaging Het
Smdt1 T C 15: 82,346,232 V50A probably benign Het
Supt3 G A 17: 45,036,720 A197T probably benign Het
Tex10 A G 4: 48,436,492 I742T possibly damaging Het
Tex44 T A 1: 86,427,918 H516Q possibly damaging Het
Tfdp1 T G 8: 13,370,917 D171E probably damaging Het
Trim31 A C 17: 36,898,676 D108A probably damaging Het
Ubr1 T C 2: 120,961,098 N135S probably benign Het
Uso1 G A 5: 92,180,563 V340I possibly damaging Het
Vmn2r107 T C 17: 20,374,847 V554A possibly damaging Het
Xdh C A 17: 73,914,019 E572* probably null Het
Zbtb7c T C 18: 76,136,990 S50P probably damaging Het
Zfp672 A G 11: 58,329,569 probably benign Het
Zzef1 A G 11: 72,900,809 probably null 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
IGL03236:Utp6 APN 11 79960741 splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCGCATggggctggagaga -3'
(R):5'- GCTATGCCACAGTGCAGAACAGA -3'

Sequencing Primer
(F):5'- gagatggctcagcaattaagaac -3'
(R):5'- TCCTCTGAGGAAATTACTCTTGTG -3'
Posted On2014-03-28