Incidental Mutation 'R1598:Urb1'
ID 175982
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 5730405K23Rik, 4921511H13Rik
MMRRC Submission 039635-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1598 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 90548415-90607301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90574328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 918 (V918F)
Ref Sequence ENSEMBL: ENSMUSP00000114717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140920]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140158
Predicted Effect possibly damaging
Transcript: ENSMUST00000140920
AA Change: V918F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: V918F

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:Npa1 78 396 1.5e-86 PFAM
low complexity region 751 761 N/A INTRINSIC
low complexity region 955 966 N/A INTRINSIC
low complexity region 1126 1137 N/A INTRINSIC
low complexity region 1360 1375 N/A INTRINSIC
Pfam:NopRA1 1670 1859 3.6e-60 PFAM
low complexity region 2029 2040 N/A INTRINSIC
low complexity region 2092 2111 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik G A 11: 80,254,838 (GRCm39) Q328* probably null Het
Aadacl4fm4 T A 4: 144,396,994 (GRCm39) K246I possibly damaging Het
Adamts1 G A 16: 85,595,399 (GRCm39) Q260* probably null Het
Add2 A T 6: 86,075,628 (GRCm39) Y259F probably benign Het
Bora T C 14: 99,305,840 (GRCm39) V403A probably benign Het
Ccnl1 G A 3: 65,854,191 (GRCm39) R477W probably damaging Het
Cdc25a CG CGG 9: 109,708,961 (GRCm39) probably null Het
Cdr2l T C 11: 115,284,203 (GRCm39) S180P probably damaging Het
Cep290 T A 10: 100,385,191 (GRCm39) L1889Q probably damaging Het
Ces4a T C 8: 105,869,453 (GRCm39) V208A probably damaging Het
Col2a1 T C 15: 97,877,131 (GRCm39) D1049G probably damaging Het
Coro1a A T 7: 126,300,864 (GRCm39) N154K possibly damaging Het
Cubn T A 2: 13,474,600 (GRCm39) R401S probably benign Het
Cul7 A T 17: 46,974,017 (GRCm39) Q1434L probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dars1 G T 1: 128,301,709 (GRCm39) D308E probably benign Het
Dna2 T A 10: 62,797,436 (GRCm39) F604I probably damaging Het
Dnah1 T G 14: 31,023,219 (GRCm39) I1033L probably benign Het
Erlin1 T C 19: 44,036,112 (GRCm39) E206G probably damaging Het
Esrp2 T A 8: 106,859,905 (GRCm39) E345D probably damaging Het
Foxa1 T C 12: 57,589,473 (GRCm39) D249G possibly damaging Het
Ghsr C A 3: 27,426,426 (GRCm39) L161M probably benign Het
Gm57858 C T 3: 36,073,146 (GRCm39) A379T probably damaging Het
Gpr155 C A 2: 73,200,434 (GRCm39) V358F probably damaging Het
H2-Eb2 A T 17: 34,553,348 (GRCm39) N178I probably damaging Het
Hydin T A 8: 111,137,306 (GRCm39) I703N possibly damaging Het
Kctd15 A G 7: 34,341,417 (GRCm39) V170A probably damaging Het
Klhl31 A T 9: 77,558,298 (GRCm39) Y338F possibly damaging Het
Krt5 C T 15: 101,620,876 (GRCm39) A124T probably benign Het
Krt72 T A 15: 101,688,688 (GRCm39) I331F probably benign Het
Lrp1b T A 2: 41,401,490 (GRCm39) D388V probably damaging Het
Ly9 A G 1: 171,424,075 (GRCm39) V382A probably benign Het
Mon2 T C 10: 122,852,301 (GRCm39) Y1024C probably damaging Het
Myh14 A G 7: 44,287,818 (GRCm39) F572L probably damaging Het
Myh3 A T 11: 66,983,997 (GRCm39) D987V probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nphp4 A G 4: 152,646,547 (GRCm39) T1360A probably benign Het
Oog4 A G 4: 143,164,571 (GRCm39) L320P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5m9 C T 2: 85,877,657 (GRCm39) T277I probably damaging Het
Or5w8 T A 2: 87,688,095 (GRCm39) I192K probably benign Het
Pcnx2 T C 8: 126,498,825 (GRCm39) N1558S probably benign Het
Pde10a A G 17: 9,147,976 (GRCm39) E147G probably damaging Het
Pgbd5 T A 8: 125,101,026 (GRCm39) H410L probably benign Het
Plce1 A C 19: 38,709,440 (GRCm39) D1098A probably damaging Het
Psg25 G A 7: 18,265,928 (GRCm39) Q16* probably null Het
Psmd9 T A 5: 123,379,980 (GRCm39) V133E probably damaging Het
Rabgap1 C T 2: 37,451,911 (GRCm39) S937F probably damaging Het
Rbck1 A G 2: 152,165,090 (GRCm39) probably null Het
Rprd2 C G 3: 95,726,051 (GRCm39) probably benign Het
Rrs1 A G 1: 9,616,137 (GRCm39) N130S probably benign Het
Scmh1 A T 4: 120,372,327 (GRCm39) I377F possibly damaging Het
Skor1 G T 9: 63,053,286 (GRCm39) R228S probably damaging Het
Slc2a4 A G 11: 69,835,844 (GRCm39) V335A probably benign Het
Slc4a9 G A 18: 36,661,424 (GRCm39) W62* probably null Het
Styxl2 G A 1: 165,937,828 (GRCm39) T77I probably benign Het
Taar9 G T 10: 23,985,305 (GRCm39) A43D possibly damaging Het
Tns4 T C 11: 98,961,243 (GRCm39) Y645C probably damaging Het
Tpcn2 G T 7: 144,830,957 (GRCm39) Y129* probably null Het
Trpm3 T C 19: 22,710,388 (GRCm39) S278P possibly damaging Het
Ttc3 T C 16: 94,223,156 (GRCm39) W615R probably damaging Het
Ttll5 T C 12: 85,910,372 (GRCm39) V207A probably damaging Het
Ubr7 G T 12: 102,736,153 (GRCm39) M358I probably damaging Het
Vmn2r51 G A 7: 9,839,432 (GRCm39) T52I probably benign Het
Vmn2r95 A T 17: 18,672,575 (GRCm39) I771F probably benign Het
Wfdc16 T C 2: 164,477,350 (GRCm39) S107G probably benign Het
Zmym2 A G 14: 57,140,226 (GRCm39) T22A possibly damaging Het
Zmym2 G A 14: 57,151,524 (GRCm39) G470R probably damaging Het
Other mutations in Urb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Urb1 APN 16 90,550,209 (GRCm39) critical splice donor site probably null
IGL00915:Urb1 APN 16 90,575,986 (GRCm39) missense possibly damaging 0.76
IGL01108:Urb1 APN 16 90,589,702 (GRCm39) missense probably damaging 1.00
IGL01122:Urb1 APN 16 90,601,346 (GRCm39) missense possibly damaging 0.81
IGL01387:Urb1 APN 16 90,554,649 (GRCm39) missense possibly damaging 0.64
IGL01484:Urb1 APN 16 90,574,448 (GRCm39) missense probably benign 0.11
IGL01606:Urb1 APN 16 90,557,347 (GRCm39) missense probably damaging 1.00
IGL01989:Urb1 APN 16 90,566,474 (GRCm39) splice site probably benign
IGL02516:Urb1 APN 16 90,569,583 (GRCm39) missense possibly damaging 0.49
IGL03018:Urb1 APN 16 90,585,044 (GRCm39) missense probably benign 0.02
IGL03165:Urb1 APN 16 90,577,192 (GRCm39) missense probably damaging 1.00
IGL03216:Urb1 APN 16 90,585,002 (GRCm39) missense probably benign 0.00
H8562:Urb1 UTSW 16 90,566,357 (GRCm39) missense probably benign 0.08
H8786:Urb1 UTSW 16 90,566,357 (GRCm39) missense probably benign 0.08
R0064:Urb1 UTSW 16 90,576,028 (GRCm39) missense probably benign
R0064:Urb1 UTSW 16 90,576,028 (GRCm39) missense probably benign
R0359:Urb1 UTSW 16 90,588,048 (GRCm39) missense probably damaging 1.00
R0386:Urb1 UTSW 16 90,593,287 (GRCm39) missense probably damaging 1.00
R0508:Urb1 UTSW 16 90,580,150 (GRCm39) splice site probably benign
R0517:Urb1 UTSW 16 90,574,310 (GRCm39) nonsense probably null
R0704:Urb1 UTSW 16 90,573,095 (GRCm39) missense probably benign 0.31
R0755:Urb1 UTSW 16 90,576,026 (GRCm39) missense probably benign
R0755:Urb1 UTSW 16 90,570,982 (GRCm39) missense probably damaging 1.00
R0783:Urb1 UTSW 16 90,607,185 (GRCm39) missense possibly damaging 0.55
R0833:Urb1 UTSW 16 90,592,336 (GRCm39) missense possibly damaging 0.89
R0836:Urb1 UTSW 16 90,592,336 (GRCm39) missense possibly damaging 0.89
R0970:Urb1 UTSW 16 90,566,335 (GRCm39) missense possibly damaging 0.83
R1144:Urb1 UTSW 16 90,573,206 (GRCm39) splice site probably null
R1344:Urb1 UTSW 16 90,566,354 (GRCm39) missense probably damaging 1.00
R1418:Urb1 UTSW 16 90,566,354 (GRCm39) missense probably damaging 1.00
R1453:Urb1 UTSW 16 90,593,380 (GRCm39) missense probably damaging 1.00
R1470:Urb1 UTSW 16 90,548,902 (GRCm39) missense probably benign 0.34
R1470:Urb1 UTSW 16 90,548,902 (GRCm39) missense probably benign 0.34
R1520:Urb1 UTSW 16 90,571,633 (GRCm39) missense probably benign 0.00
R1521:Urb1 UTSW 16 90,550,751 (GRCm39) missense probably damaging 1.00
R1617:Urb1 UTSW 16 90,557,340 (GRCm39) missense possibly damaging 0.82
R1625:Urb1 UTSW 16 90,570,936 (GRCm39) critical splice donor site probably null
R1640:Urb1 UTSW 16 90,569,514 (GRCm39) missense probably benign 0.00
R1664:Urb1 UTSW 16 90,584,970 (GRCm39) critical splice donor site probably null
R1672:Urb1 UTSW 16 90,584,285 (GRCm39) missense probably damaging 1.00
R1694:Urb1 UTSW 16 90,563,928 (GRCm39) missense probably benign
R1856:Urb1 UTSW 16 90,558,583 (GRCm39) missense probably benign 0.00
R2001:Urb1 UTSW 16 90,559,232 (GRCm39) missense probably benign 0.30
R2196:Urb1 UTSW 16 90,571,144 (GRCm39) missense probably benign 0.01
R2850:Urb1 UTSW 16 90,571,144 (GRCm39) missense probably benign 0.01
R3009:Urb1 UTSW 16 90,571,686 (GRCm39) missense probably benign 0.09
R3104:Urb1 UTSW 16 90,592,331 (GRCm39) missense probably damaging 1.00
R3105:Urb1 UTSW 16 90,592,331 (GRCm39) missense probably damaging 1.00
R3106:Urb1 UTSW 16 90,592,331 (GRCm39) missense probably damaging 1.00
R3160:Urb1 UTSW 16 90,594,791 (GRCm39) missense probably damaging 1.00
R3162:Urb1 UTSW 16 90,594,791 (GRCm39) missense probably damaging 1.00
R3900:Urb1 UTSW 16 90,580,264 (GRCm39) missense possibly damaging 0.86
R4014:Urb1 UTSW 16 90,566,353 (GRCm39) missense probably damaging 1.00
R4036:Urb1 UTSW 16 90,584,974 (GRCm39) missense probably benign
R4332:Urb1 UTSW 16 90,571,425 (GRCm39) missense probably damaging 1.00
R4448:Urb1 UTSW 16 90,566,282 (GRCm39) missense possibly damaging 0.71
R4581:Urb1 UTSW 16 90,585,034 (GRCm39) missense probably benign 0.04
R4593:Urb1 UTSW 16 90,584,332 (GRCm39) missense probably damaging 1.00
R4610:Urb1 UTSW 16 90,573,159 (GRCm39) missense probably benign 0.43
R4659:Urb1 UTSW 16 90,573,017 (GRCm39) missense probably damaging 0.96
R4672:Urb1 UTSW 16 90,569,522 (GRCm39) missense probably benign
R4681:Urb1 UTSW 16 90,601,425 (GRCm39) missense probably damaging 0.99
R4771:Urb1 UTSW 16 90,550,406 (GRCm39) missense probably benign 0.00
R4790:Urb1 UTSW 16 90,566,443 (GRCm39) nonsense probably null
R4798:Urb1 UTSW 16 90,554,715 (GRCm39) missense probably benign 0.12
R4809:Urb1 UTSW 16 90,556,730 (GRCm39) missense possibly damaging 0.82
R4850:Urb1 UTSW 16 90,592,302 (GRCm39) nonsense probably null
R4916:Urb1 UTSW 16 90,580,216 (GRCm39) missense probably damaging 1.00
R4969:Urb1 UTSW 16 90,602,299 (GRCm39) missense probably damaging 1.00
R5032:Urb1 UTSW 16 90,553,059 (GRCm39) missense probably benign 0.00
R5111:Urb1 UTSW 16 90,548,905 (GRCm39) missense probably benign 0.00
R5122:Urb1 UTSW 16 90,548,983 (GRCm39) nonsense probably null
R5184:Urb1 UTSW 16 90,580,162 (GRCm39) critical splice donor site probably null
R5199:Urb1 UTSW 16 90,589,636 (GRCm39) missense possibly damaging 0.95
R5436:Urb1 UTSW 16 90,589,650 (GRCm39) missense probably damaging 1.00
R5767:Urb1 UTSW 16 90,573,051 (GRCm39) missense probably benign 0.00
R5812:Urb1 UTSW 16 90,601,425 (GRCm39) missense probably damaging 0.99
R5872:Urb1 UTSW 16 90,569,652 (GRCm39) nonsense probably null
R6052:Urb1 UTSW 16 90,559,271 (GRCm39) missense probably damaging 1.00
R6063:Urb1 UTSW 16 90,585,985 (GRCm39) missense probably benign 0.02
R6065:Urb1 UTSW 16 90,600,220 (GRCm39) missense probably benign 0.03
R6181:Urb1 UTSW 16 90,575,982 (GRCm39) missense probably benign 0.00
R6268:Urb1 UTSW 16 90,550,807 (GRCm39) missense probably benign 0.03
R6429:Urb1 UTSW 16 90,559,318 (GRCm39) splice site probably null
R6572:Urb1 UTSW 16 90,584,302 (GRCm39) missense probably benign 0.37
R6606:Urb1 UTSW 16 90,607,156 (GRCm39) missense probably benign 0.00
R6730:Urb1 UTSW 16 90,575,971 (GRCm39) missense possibly damaging 0.89
R6838:Urb1 UTSW 16 90,578,994 (GRCm39) missense possibly damaging 0.93
R7237:Urb1 UTSW 16 90,588,054 (GRCm39) missense probably damaging 1.00
R7238:Urb1 UTSW 16 90,549,003 (GRCm39) missense possibly damaging 0.88
R7339:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7341:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7361:Urb1 UTSW 16 90,571,656 (GRCm39) missense probably damaging 0.99
R7365:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7366:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7440:Urb1 UTSW 16 90,584,296 (GRCm39) missense probably damaging 1.00
R7530:Urb1 UTSW 16 90,558,522 (GRCm39) missense probably damaging 1.00
R7553:Urb1 UTSW 16 90,589,752 (GRCm39) missense probably damaging 1.00
R7557:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7603:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7607:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7609:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7610:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7612:Urb1 UTSW 16 90,594,798 (GRCm39) missense probably damaging 1.00
R7613:Urb1 UTSW 16 90,569,461 (GRCm39) critical splice donor site probably benign
R7684:Urb1 UTSW 16 90,583,006 (GRCm39) nonsense probably null
R8029:Urb1 UTSW 16 90,576,040 (GRCm39) missense possibly damaging 0.67
R8324:Urb1 UTSW 16 90,588,078 (GRCm39) missense probably damaging 1.00
R8680:Urb1 UTSW 16 90,571,513 (GRCm39) missense probably benign 0.00
R8785:Urb1 UTSW 16 90,600,311 (GRCm39) missense probably benign 0.07
R8914:Urb1 UTSW 16 90,607,122 (GRCm39) missense probably damaging 1.00
R8959:Urb1 UTSW 16 90,571,005 (GRCm39) missense probably benign 0.26
R9005:Urb1 UTSW 16 90,550,678 (GRCm39) missense probably benign 0.01
R9126:Urb1 UTSW 16 90,566,290 (GRCm39) missense possibly damaging 0.53
R9195:Urb1 UTSW 16 90,589,638 (GRCm39) missense probably benign 0.03
R9276:Urb1 UTSW 16 90,569,463 (GRCm39) splice site probably benign
R9534:Urb1 UTSW 16 90,583,096 (GRCm39) missense possibly damaging 0.54
Z1177:Urb1 UTSW 16 90,571,750 (GRCm39) missense probably benign 0.05
Z1177:Urb1 UTSW 16 90,550,771 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGACAAGCCTGGACATGCTGC -3'
(R):5'- TTGAGTACAGTGCCACACTGCC -3'

Sequencing Primer
(F):5'- TGGACATGCTGCAATGGC -3'
(R):5'- CATGCTTAGTGTGAAATGCCC -3'
Posted On 2014-04-24