Incidental Mutation 'R0395:Utp25'
ID 31914
Institutional Source Beutler Lab
Gene Symbol Utp25
Ensembl Gene ENSMUSG00000016181
Gene Name UTP25 small subunit processome component
Synonyms AA408296, mDef, Diexf
MMRRC Submission 038601-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R0395 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 192786707-192812603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 192805984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 187 (E187G)
Ref Sequence ENSEMBL: ENSMUSP00000141676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085555] [ENSMUST00000195291] [ENSMUST00000195848]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000085555
AA Change: E187G

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: E187G

DomainStartEndE-ValueType
low complexity region 51 70 N/A INTRINSIC
coiled coil region 72 113 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 217 224 N/A INTRINSIC
Pfam:UTP25 288 763 6.1e-200 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194335
Predicted Effect possibly damaging
Transcript: ENSMUST00000195291
AA Change: E187G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: E187G

DomainStartEndE-ValueType
low complexity region 51 70 N/A INTRINSIC
coiled coil region 72 113 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 217 224 N/A INTRINSIC
Pfam:DUF1253 325 634 6.9e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195848
Meta Mutation Damage Score 0.0879 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 98% (103/105)
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T C 13: 59,837,470 (GRCm39) K205R possibly damaging Het
9630041A04Rik A T 9: 101,819,934 (GRCm39) N118I probably damaging Het
AAdacl4fm3 A G 4: 144,429,765 (GRCm39) V408A probably benign Het
Acsm2 G A 7: 119,174,969 (GRCm39) D245N probably damaging Het
Adgrv1 A T 13: 81,534,072 (GRCm39) H5836Q probably benign Het
Ahcyl2 T C 6: 29,886,167 (GRCm39) V391A probably damaging Het
Alcam A T 16: 52,130,227 (GRCm39) M41K probably benign Het
Aldh3b3 A C 19: 4,016,472 (GRCm39) E363D probably benign Het
Alk A G 17: 72,910,526 (GRCm39) V60A probably damaging Het
Als2cl G A 9: 110,727,152 (GRCm39) R906H probably damaging Het
Ap5z1 T C 5: 142,456,317 (GRCm39) probably benign Het
Apba2 T A 7: 64,393,156 (GRCm39) I547N probably benign Het
Apol10b A T 15: 77,469,840 (GRCm39) D112E probably damaging Het
Ash1l C A 3: 88,965,896 (GRCm39) R2433S probably damaging Het
Cachd1 T C 4: 100,810,402 (GRCm39) F335L probably damaging Het
Cbfa2t3 G T 8: 123,365,690 (GRCm39) Q181K probably benign Het
Cct6b A G 11: 82,630,506 (GRCm39) M265T probably benign Het
Cd151 G A 7: 141,050,304 (GRCm39) V180I probably damaging Het
Ces1h T A 8: 94,083,706 (GRCm39) N412I unknown Het
Chmp7 T C 14: 69,969,905 (GRCm39) T12A probably benign Het
Clasp1 A G 1: 118,467,061 (GRCm39) T534A possibly damaging Het
Cldn15 T A 5: 136,997,052 (GRCm39) V31E possibly damaging Het
Col16a1 G A 4: 129,966,902 (GRCm39) G583D probably damaging Het
Csmd1 T C 8: 16,396,652 (GRCm39) N426S probably damaging Het
Dapp1 C T 3: 137,641,398 (GRCm39) C199Y possibly damaging Het
Dchs1 A G 7: 105,407,745 (GRCm39) L2029P probably damaging Het
Dmc1 A G 15: 79,472,973 (GRCm39) F158S probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Dthd1 T A 5: 62,971,676 (GRCm39) N166K possibly damaging Het
Enam A T 5: 88,649,367 (GRCm39) Y292F probably damaging Het
Esrrg A T 1: 187,930,832 (GRCm39) I285F probably damaging Het
Fam50b A G 13: 34,931,220 (GRCm39) D232G probably damaging Het
Fam91a1 T A 15: 58,326,641 (GRCm39) S792T probably benign Het
Fbxw22 A C 9: 109,210,753 (GRCm39) C419W probably damaging Het
Flt4 G A 11: 49,521,170 (GRCm39) S393N probably benign Het
Fras1 A T 5: 96,917,512 (GRCm39) T3511S possibly damaging Het
Frat2 A C 19: 41,836,263 (GRCm39) S30A probably damaging Het
Glp1r T A 17: 31,155,312 (GRCm39) M433K probably benign Het
Gm10300 G A 4: 131,802,299 (GRCm39) probably benign Het
Gpatch4 A G 3: 87,961,661 (GRCm39) probably benign Het
Gpr22 A T 12: 31,759,461 (GRCm39) S220R possibly damaging Het
Grn T C 11: 102,327,049 (GRCm39) V549A probably benign Het
Gtf3c5 T C 2: 28,467,930 (GRCm39) D177G probably damaging Het
Htr1b A T 9: 81,513,704 (GRCm39) M301K probably benign Het
Ifi207 A T 1: 173,557,431 (GRCm39) S436T possibly damaging Het
Ifnb1 A T 4: 88,440,766 (GRCm39) N82K possibly damaging Het
Ina T G 19: 47,010,358 (GRCm39) N384K probably damaging Het
Kirrel2 T C 7: 30,149,883 (GRCm39) N541D possibly damaging Het
Lrp2 A T 2: 69,263,421 (GRCm39) I4377N possibly damaging Het
Lrrc37a A G 11: 103,355,221 (GRCm39) V2532A unknown Het
Mast4 T C 13: 102,871,781 (GRCm39) E2529G probably damaging Het
Myh6 T C 14: 55,183,777 (GRCm39) H1719R possibly damaging Het
Myo5a A T 9: 75,101,259 (GRCm39) H150L probably benign Het
Naglu C T 11: 100,964,933 (GRCm39) probably benign Het
Nags G A 11: 102,036,530 (GRCm39) A40T unknown Het
Nav1 G T 1: 135,460,359 (GRCm39) Y321* probably null Het
Nav1 A T 1: 135,460,361 (GRCm39) Y321N probably damaging Het
Neu3 C T 7: 99,462,985 (GRCm39) S246N probably benign Het
Npy5r C T 8: 67,134,625 (GRCm39) G56D probably benign Het
Nrxn1 A G 17: 91,395,742 (GRCm39) V138A possibly damaging Het
Nuggc C T 14: 65,850,921 (GRCm39) Q264* probably null Het
Ogfod1 G A 8: 94,790,156 (GRCm39) probably null Het
Or1o11 T A 17: 37,756,757 (GRCm39) F115Y probably damaging Het
Or2t45 A T 11: 58,669,195 (GRCm39) M81L probably benign Het
Or5b101 A G 19: 13,005,663 (GRCm39) F10S probably damaging Het
Or5p66 A G 7: 107,885,478 (GRCm39) V285A probably benign Het
Per1 T A 11: 68,993,103 (GRCm39) I340N probably damaging Het
Pkhd1 C T 1: 20,451,771 (GRCm39) A2175T probably benign Het
Pogk A G 1: 166,231,171 (GRCm39) V52A probably damaging Het
Pou2af3 C T 9: 51,191,834 (GRCm39) probably benign Het
Ppib A T 9: 65,973,601 (GRCm39) T185S possibly damaging Het
Ptar1 G T 19: 23,697,563 (GRCm39) M358I probably damaging Het
Qser1 A C 2: 104,593,226 (GRCm39) I1597S probably damaging Het
Ranbp17 T C 11: 33,424,896 (GRCm39) I487V probably benign Het
Repin1 C A 6: 48,574,459 (GRCm39) R460S probably damaging Het
Sfmbt1 T C 14: 30,509,574 (GRCm39) probably benign Het
Sh3rf1 C T 8: 61,846,696 (GRCm39) probably benign Het
Shroom3 C T 5: 92,928,762 (GRCm39) R106C probably damaging Het
Siglecf T A 7: 43,005,399 (GRCm39) V453D probably damaging Het
Slc2a9 A G 5: 38,610,512 (GRCm39) S96P probably damaging Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Slf1 A G 13: 77,254,088 (GRCm39) probably benign Het
Smad1 T G 8: 80,076,411 (GRCm39) K269T probably benign Het
Srp54b G A 12: 55,296,884 (GRCm39) R194H probably damaging Het
St8sia6 T A 2: 13,670,247 (GRCm39) S238C probably damaging Het
Stat3 A T 11: 100,780,763 (GRCm39) probably benign Het
Tafa2 A T 10: 123,429,497 (GRCm39) H37L probably benign Het
Tas1r2 T A 4: 139,382,665 (GRCm39) M101K possibly damaging Het
Tesc A G 5: 118,191,647 (GRCm39) probably null Het
Tle3 T A 9: 61,317,353 (GRCm39) M334K probably damaging Het
Tmem151a A T 19: 5,132,261 (GRCm39) V315E probably damaging Het
Tmprss2 T C 16: 97,368,245 (GRCm39) D480G probably damaging Het
Trmt1 C A 8: 85,423,741 (GRCm39) probably null Het
Tsr3 T C 17: 25,461,198 (GRCm39) probably null Het
Ube2u A G 4: 100,338,845 (GRCm39) K37E probably benign Het
Usp16 T A 16: 87,272,334 (GRCm39) D382E probably damaging Het
Usp9y A T Y: 1,340,053 (GRCm39) F1442Y probably damaging Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
V1ra8 C T 6: 90,179,991 (GRCm39) L65F possibly damaging Het
Vmn2r10 T C 5: 109,149,859 (GRCm39) N395S probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp330 G A 8: 83,491,511 (GRCm39) Q221* probably null Het
Other mutations in Utp25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Utp25 APN 1 192,797,309 (GRCm39) missense probably damaging 1.00
IGL01700:Utp25 APN 1 192,800,573 (GRCm39) missense probably damaging 1.00
IGL02076:Utp25 APN 1 192,812,367 (GRCm39) missense probably damaging 1.00
IGL02121:Utp25 APN 1 192,800,586 (GRCm39) missense probably benign 0.05
IGL02666:Utp25 APN 1 192,789,904 (GRCm39) nonsense probably null
IGL02997:Utp25 APN 1 192,802,892 (GRCm39) missense probably benign 0.34
3-1:Utp25 UTSW 1 192,800,588 (GRCm39) missense probably benign 0.07
R0099:Utp25 UTSW 1 192,810,778 (GRCm39) missense probably damaging 1.00
R0502:Utp25 UTSW 1 192,797,136 (GRCm39) splice site probably benign
R0973:Utp25 UTSW 1 192,797,011 (GRCm39) missense probably damaging 0.98
R0973:Utp25 UTSW 1 192,797,011 (GRCm39) missense probably damaging 0.98
R0974:Utp25 UTSW 1 192,797,011 (GRCm39) missense probably damaging 0.98
R1815:Utp25 UTSW 1 192,800,591 (GRCm39) missense probably benign 0.26
R1930:Utp25 UTSW 1 192,800,617 (GRCm39) missense probably damaging 1.00
R1931:Utp25 UTSW 1 192,800,617 (GRCm39) missense probably damaging 1.00
R1937:Utp25 UTSW 1 192,804,401 (GRCm39) missense probably damaging 1.00
R2847:Utp25 UTSW 1 192,810,759 (GRCm39) missense probably benign 0.41
R2848:Utp25 UTSW 1 192,810,759 (GRCm39) missense probably benign 0.41
R3412:Utp25 UTSW 1 192,810,810 (GRCm39) missense possibly damaging 0.93
R3414:Utp25 UTSW 1 192,810,810 (GRCm39) missense possibly damaging 0.93
R4471:Utp25 UTSW 1 192,812,445 (GRCm39) missense possibly damaging 0.68
R4627:Utp25 UTSW 1 192,790,003 (GRCm39) missense probably benign 0.00
R4644:Utp25 UTSW 1 192,810,788 (GRCm39) missense probably damaging 1.00
R4761:Utp25 UTSW 1 192,796,230 (GRCm39) missense probably damaging 1.00
R4791:Utp25 UTSW 1 192,810,575 (GRCm39) missense probably benign
R4793:Utp25 UTSW 1 192,796,116 (GRCm39) missense probably null 0.56
R4858:Utp25 UTSW 1 192,796,072 (GRCm39) missense probably damaging 1.00
R4944:Utp25 UTSW 1 192,797,262 (GRCm39) missense probably damaging 1.00
R5162:Utp25 UTSW 1 192,796,089 (GRCm39) missense probably damaging 1.00
R5347:Utp25 UTSW 1 192,810,687 (GRCm39) missense probably benign
R5837:Utp25 UTSW 1 192,800,701 (GRCm39) missense probably damaging 1.00
R6113:Utp25 UTSW 1 192,811,810 (GRCm39) missense probably null 0.01
R6455:Utp25 UTSW 1 192,810,684 (GRCm39) missense probably benign 0.07
R6563:Utp25 UTSW 1 192,800,698 (GRCm39) missense probably damaging 1.00
R6636:Utp25 UTSW 1 192,796,075 (GRCm39) missense probably damaging 1.00
R7018:Utp25 UTSW 1 192,797,163 (GRCm39) missense probably benign 0.06
R7037:Utp25 UTSW 1 192,803,031 (GRCm39) splice site probably null
R8027:Utp25 UTSW 1 192,800,530 (GRCm39) missense probably benign
R8042:Utp25 UTSW 1 192,796,980 (GRCm39) missense
R8092:Utp25 UTSW 1 192,802,671 (GRCm39) missense probably benign 0.00
R8243:Utp25 UTSW 1 192,796,937 (GRCm39) missense probably benign
R8691:Utp25 UTSW 1 192,796,110 (GRCm39) missense probably benign 0.41
R9485:Utp25 UTSW 1 192,812,541 (GRCm39) unclassified probably benign
RF021:Utp25 UTSW 1 192,802,974 (GRCm39) missense probably benign
X0050:Utp25 UTSW 1 192,806,040 (GRCm39) missense probably benign 0.23
Z1177:Utp25 UTSW 1 192,796,983 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTGGGCCTCACAAACTTGAAAAG -3'
(R):5'- AGCACCAGTGTTTGGTTTTGTCAAC -3'

Sequencing Primer
(F):5'- TTGCTCAGACTCCAAGTCTAGAG -3'
(R):5'- ctcccctcctctttcccc -3'
Posted On 2013-04-24