Incidental Mutation 'R4672:Urb1'
ID 348577
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 5730405K23Rik, 4921511H13Rik
MMRRC Submission 041927-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4672 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90548415-90607301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90569522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1401 (D1401E)
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 probably benign
Transcript: ENSMUST00000140920
AA Change: D1401E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: D1401E

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
Meta Mutation Damage Score 0.0622 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (113/115)
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,962,702 (GRCm39) L483F possibly damaging Het
Abca8b A G 11: 109,827,274 (GRCm39) F1507L possibly damaging Het
Adamdec1 C A 14: 68,815,353 (GRCm39) E104* probably null Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Alppl2 T C 1: 87,017,187 (GRCm39) probably benign Het
Aplnr A G 2: 84,967,524 (GRCm39) Y183C probably damaging Het
Atm G A 9: 53,433,501 (GRCm39) R250W probably damaging Het
B4galt7 T C 13: 55,757,132 (GRCm39) L275P probably damaging Het
Bltp1 A G 3: 36,944,139 (GRCm39) *330W probably null Het
Ccdc178 G A 18: 22,283,501 (GRCm39) Q10* probably null Het
Ccr9 T C 9: 123,608,752 (GRCm39) Y145H probably damaging Het
Cd209f C T 8: 4,153,685 (GRCm39) G188D probably damaging Het
Cep70 T A 9: 99,136,365 (GRCm39) S23T possibly damaging Het
Cpped1 C A 16: 11,623,238 (GRCm39) E294* probably null Het
Crisp1 T A 17: 40,605,404 (GRCm39) probably null Het
Disp1 T C 1: 182,880,215 (GRCm39) probably null Het
Dlg2 A T 7: 91,935,743 (GRCm39) M624L probably damaging Het
Elf2 A G 3: 51,163,855 (GRCm39) V558A probably damaging Het
Eno2 T C 6: 124,743,109 (GRCm39) D209G probably damaging Het
Fam187b G A 7: 30,676,968 (GRCm39) R159H probably damaging Het
Fh1 G A 1: 175,431,617 (GRCm39) A423V probably benign Het
Frg1 C T 8: 41,853,846 (GRCm39) D164N probably benign Het
Fsbp T G 4: 11,579,841 (GRCm39) N36K probably benign Het
Gcn1 A G 5: 115,744,579 (GRCm39) T1592A probably damaging Het
Gimap3 A G 6: 48,742,687 (GRCm39) I81T probably damaging Het
Gjb6 C T 14: 57,362,235 (GRCm39) V9I probably benign Het
Gkap1 T C 13: 58,411,770 (GRCm39) S68G possibly damaging Het
Gpatch8 A T 11: 102,369,784 (GRCm39) S1251R probably damaging Het
Gria4 A G 9: 4,664,981 (GRCm39) F92L possibly damaging Het
H2-Q1 C A 17: 35,539,906 (GRCm39) D58E probably damaging Het
Hs1bp3 G T 12: 8,391,983 (GRCm39) G362* probably null Het
Igfn1 T A 1: 135,893,107 (GRCm39) H2114L possibly damaging Het
Igkv12-98 A G 6: 68,547,940 (GRCm39) Q22R probably benign Het
Ing3 A G 6: 21,965,729 (GRCm39) probably null Het
Insr C T 8: 3,217,501 (GRCm39) probably null Het
Kdm3b T C 18: 34,941,630 (GRCm39) S374P probably benign Het
Kif14 A C 1: 136,449,016 (GRCm39) Q1472P probably benign Het
Kif14 G T 1: 136,449,017 (GRCm39) Q1472H probably benign Het
Knstrn A G 2: 118,664,512 (GRCm39) E202G probably damaging Het
Knstrn G T 2: 118,664,513 (GRCm39) E202D possibly damaging Het
Krt12 A G 11: 99,309,509 (GRCm39) probably benign Het
Lgi3 A T 14: 70,771,897 (GRCm39) I195F possibly damaging Het
Lima1 T C 15: 99,741,590 (GRCm39) N29D probably damaging Het
Liph T C 16: 21,802,806 (GRCm39) I88V probably benign Het
Lrrk1 A G 7: 65,929,120 (GRCm39) S86P probably benign Het
Lsamp A G 16: 41,775,697 (GRCm39) R166G probably damaging Het
Mamdc2 T A 19: 23,328,148 (GRCm39) N407Y probably damaging Het
Mast3 CATA CA 8: 71,237,441 (GRCm39) probably null Het
Megf6 T A 4: 154,333,909 (GRCm39) N212K probably damaging Het
Met A C 6: 17,571,803 (GRCm39) D1374A probably benign Het
Mrc2 A G 11: 105,233,923 (GRCm39) T902A probably benign Het
Mroh3 T A 1: 136,118,713 (GRCm39) T535S probably benign Het
Muc1 G T 3: 89,139,384 (GRCm39) V595L probably damaging Het
Myh2 T A 11: 67,079,303 (GRCm39) L957Q probably damaging Het
Myorg T A 4: 41,499,061 (GRCm39) M190L probably benign Het
Ncl A T 1: 86,284,324 (GRCm39) D257E probably benign Het
Nipbl T A 15: 8,332,468 (GRCm39) D2263V probably damaging Het
Optc C A 1: 133,825,555 (GRCm39) V324L possibly damaging Het
Or4k15 A G 14: 50,364,714 (GRCm39) N227D probably benign Het
Or4k42 A T 2: 111,319,902 (GRCm39) N200K possibly damaging Het
Or7g35 A G 9: 19,496,726 (GRCm39) K298E possibly damaging Het
Osbpl9 A G 4: 108,921,806 (GRCm39) I604T possibly damaging Het
Otog C A 7: 45,939,210 (GRCm39) A2080D probably damaging Het
Parp6 G C 9: 59,547,393 (GRCm39) R460P probably damaging Het
Phactr4 G T 4: 132,098,017 (GRCm39) P417Q probably damaging Het
Pigt T C 2: 164,339,498 (GRCm39) probably benign Het
Plekha5 A G 6: 140,470,655 (GRCm39) I99V probably damaging Het
Plxna3 T G X: 73,382,554 (GRCm39) probably null Het
Ppp2r1b G A 9: 50,779,019 (GRCm39) M362I probably damaging Het
Pramel34 T A 5: 93,784,182 (GRCm39) R230S probably damaging Het
Rad51 A G 2: 118,954,327 (GRCm39) I136V probably benign Het
Rad54b T A 4: 11,609,449 (GRCm39) H633Q probably benign Het
Rasal2 A G 1: 157,071,231 (GRCm39) F41S probably benign Het
Reep3 T A 10: 66,857,629 (GRCm39) H154L probably benign Het
Rp1l1 T G 14: 64,268,719 (GRCm39) V1435G probably damaging Het
Rps6ka5 C A 12: 100,620,546 (GRCm39) K125N possibly damaging Het
Rsad1 A T 11: 94,434,444 (GRCm39) M330K probably damaging Het
Scand1 A G 2: 156,153,850 (GRCm39) probably null Het
Setd6 A G 8: 96,444,640 (GRCm39) H111R probably null Het
Slc27a3 T C 3: 90,294,953 (GRCm39) N368S possibly damaging Het
Slc38a2 T C 15: 96,596,518 (GRCm39) T32A probably benign Het
Smg7 A G 1: 152,721,164 (GRCm39) S683P probably damaging Het
Smyd2 A T 1: 189,642,101 (GRCm39) L62M probably damaging Het
Sox5 T C 6: 143,779,075 (GRCm39) Y687C probably damaging Het
Spaca6 T A 17: 18,057,005 (GRCm39) C53* probably null Het
Spata31e4 T C 13: 50,857,208 (GRCm39) Y949H probably benign Het
Spire2 T C 8: 124,084,850 (GRCm39) V230A probably benign Het
Sptbn2 G T 19: 4,782,524 (GRCm39) V487L probably benign Het
Stk3 T A 15: 35,099,603 (GRCm39) I110L probably benign Het
Stox2 T A 8: 47,645,141 (GRCm39) Y773F probably damaging Het
Tbrg1 C A 9: 37,562,632 (GRCm39) A259S probably damaging Het
Tnfsf18 C A 1: 161,331,307 (GRCm39) D152E probably benign Het
Tpr G A 1: 150,299,318 (GRCm39) A1173T probably benign Het
Trrap T C 5: 144,722,290 (GRCm39) L271P probably damaging Het
Ttn G T 2: 76,657,419 (GRCm39) probably benign Het
U2surp A G 9: 95,375,198 (GRCm39) S192P possibly damaging Het
Ubr4 C T 4: 139,138,027 (GRCm39) S1128L probably damaging Het
Ucma G A 2: 4,981,465 (GRCm39) probably null Het
Usp54 A T 14: 20,631,597 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,056 (GRCm39) Y270H probably damaging Het
Vmn1r90 T A 7: 14,295,493 (GRCm39) T202S probably benign Het
Vmn2r88 A G 14: 51,655,612 (GRCm39) Y616C probably damaging Het
Vmn2r95 T A 17: 18,672,413 (GRCm39) W717R probably damaging Het
Zcchc4 C A 5: 52,953,947 (GRCm39) T209K probably benign Het
Zfp955b T A 17: 33,524,233 (GRCm39) probably benign 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
R1598:Urb1 UTSW 16 90,574,328 (GRCm39) missense possibly damaging 0.93
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
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'- AAGTCCTGCATGGTTCACAC -3'
(R):5'- AGCCTGTTGTTGCTGACAG -3'

Sequencing Primer
(F):5'- GGTTCACACCACACAGCTAG -3'
(R):5'- AGTAGTGCAAGTCTCTGCAC -3'
Posted On 2015-10-08