Incidental Mutation 'R7366:Urb1'
ID 571837
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 5730405K23Rik, 4921511H13Rik
MMRRC Submission 045450-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7366 (G1)
Quality Score 217.468
Status Validated
Chromosome 16
Chromosomal Location 90548415-90607301 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) CACTTAC to CAC at 90569461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140920]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000140920
SMART Domains Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 99% (94/95)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 73,203,303 (GRCm39) P244S possibly damaging Het
4930562C15Rik A G 16: 4,653,633 (GRCm39) I61V unknown Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Acbd3 A G 1: 180,562,064 (GRCm39) E181G probably benign Het
Ano3 T C 2: 110,587,412 (GRCm39) Y43C probably damaging Het
Aspa T A 11: 73,210,716 (GRCm39) probably null Het
AU018091 A T 7: 3,206,170 (GRCm39) N620K probably damaging Het
Bicc1 G T 10: 70,779,216 (GRCm39) T724K probably benign Het
Bmper T C 9: 23,395,300 (GRCm39) I677T probably damaging Het
C3 T A 17: 57,528,162 (GRCm39) T686S probably benign Het
Cc2d2a G T 5: 43,887,332 (GRCm39) R1315L probably damaging Het
Ccdc150 G T 1: 54,339,541 (GRCm39) E462* probably null Het
Ccdc88c C A 12: 100,911,209 (GRCm39) R875L possibly damaging Het
Cd177 C T 7: 24,456,147 (GRCm39) G207D probably damaging Het
Cdh23 A T 10: 60,151,471 (GRCm39) Y2471* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cmbl A T 15: 31,590,002 (GRCm39) Y244F probably benign Het
Dcaf10 T C 4: 45,373,919 (GRCm39) V448A probably damaging Het
Ddr2 A G 1: 169,825,533 (GRCm39) W356R probably damaging Het
Depdc1a A G 3: 159,228,849 (GRCm39) I534V probably benign Het
Dhtkd1 T A 2: 5,922,717 (GRCm39) I481L probably benign Het
Dlst A T 12: 85,175,089 (GRCm39) I260L probably benign Het
Dnajc13 T G 9: 104,061,905 (GRCm39) K1350Q probably benign Het
Dpp4 T C 2: 62,184,943 (GRCm39) Y520C probably damaging Het
Dr1 C A 5: 108,423,594 (GRCm39) A127E unknown Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
E130308A19Rik T C 4: 59,752,770 (GRCm39) C628R probably damaging Het
Edem3 T A 1: 151,688,365 (GRCm39) probably null Het
Efcab15 T C 11: 103,098,944 (GRCm39) probably null Het
Fam20a T A 11: 109,564,168 (GRCm39) Q528H possibly damaging Het
Fanca T C 8: 124,007,952 (GRCm39) E981G probably benign Het
Fbp2 A G 13: 62,985,012 (GRCm39) V303A possibly damaging Het
Flii C T 11: 60,611,945 (GRCm39) V353M possibly damaging Het
Gm10277 T A 11: 77,676,584 (GRCm39) Y129F unknown Het
Gm3159 A T 14: 4,398,525 (GRCm38) H72L probably benign Het
Gm5114 T G 7: 39,058,768 (GRCm39) T284P possibly damaging Het
Gm7168 T C 17: 14,170,147 (GRCm39) S505P probably damaging Het
Gnal T C 18: 67,344,142 (GRCm39) V239A possibly damaging Het
Gtf2i C T 5: 134,294,603 (GRCm39) E370K probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Il3 T A 11: 54,156,709 (GRCm39) R93S probably benign Het
Itsn1 A G 16: 91,705,338 (GRCm39) E1573G unknown Het
Kif26a G A 12: 112,129,976 (GRCm39) probably null Het
Klb T C 5: 65,529,774 (GRCm39) M434T probably damaging Het
Lrp2 T A 2: 69,314,150 (GRCm39) R2194W probably damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Mak16 A G 8: 31,656,127 (GRCm39) Y119H possibly damaging Het
Map3k19 T A 1: 127,745,192 (GRCm39) M1421L probably damaging Het
Mbd5 A G 2: 49,164,580 (GRCm39) I1186V probably benign Het
Mboat1 T A 13: 30,386,345 (GRCm39) C120S possibly damaging Het
Mctp2 T A 7: 71,908,962 (GRCm39) D117V probably benign Het
Mocos C A 18: 24,809,673 (GRCm39) N425K probably damaging Het
Nav2 A G 7: 49,203,951 (GRCm39) probably null Het
Ngfr A T 11: 95,465,255 (GRCm39) W198R possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Obsl1 T C 1: 75,479,608 (GRCm39) S596G probably damaging Het
Or2ag1 G T 7: 106,472,603 (GRCm39) P283Q probably damaging Het
Or51g1 A T 7: 102,633,723 (GRCm39) I216K probably damaging Het
Or52e3 T G 7: 102,869,740 (GRCm39) Y272D probably benign Het
Or5v1b T A 17: 37,841,708 (GRCm39) V280D probably damaging Het
Or6b3 A G 1: 92,439,400 (GRCm39) S117P possibly damaging Het
Pithd1 T C 4: 135,714,361 (GRCm39) Y29C probably benign Het
Plcb3 T C 19: 6,939,389 (GRCm39) T530A probably benign Het
Prss40 A T 1: 34,598,952 (GRCm39) Y70* probably null Het
Ralgps1 T C 2: 33,214,700 (GRCm39) M61V possibly damaging Het
Rbp4 C T 19: 38,113,410 (GRCm39) R36H possibly damaging Het
Rnf125 A G 18: 21,107,490 (GRCm39) N7S not run Het
Rpe65 G A 3: 159,330,366 (GRCm39) S511N probably benign Het
Rspo4 A T 2: 151,709,793 (GRCm39) Y66F probably damaging Het
Ruvbl2 A G 7: 45,071,573 (GRCm39) S437P probably benign Het
Sele C A 1: 163,876,288 (GRCm39) R12S probably benign Het
Sgo2b T A 8: 64,391,451 (GRCm39) K139* probably null Het
Shroom3 C A 5: 93,112,465 (GRCm39) S1942* probably null Het
Slc12a9 G A 5: 137,326,885 (GRCm39) R191* probably null Het
Spag9 G T 11: 93,999,347 (GRCm39) V1088L possibly damaging Het
Sptb T G 12: 76,650,968 (GRCm39) D1669A probably damaging Het
Sptlc2 A G 12: 87,360,823 (GRCm39) probably null Het
Sult2a8 A T 7: 14,150,254 (GRCm39) probably null Het
Synpo2 A G 3: 122,907,690 (GRCm39) V542A probably damaging Het
Tecpr2 T C 12: 110,881,914 (GRCm39) probably null Het
Tektip1 T C 10: 81,200,025 (GRCm39) D165G possibly damaging Het
Tenm2 T C 11: 35,960,241 (GRCm39) T1029A probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tnfaip8l1 C A 17: 56,478,897 (GRCm39) N62K probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Trp53tg5 A G 2: 164,313,027 (GRCm39) I216T possibly damaging Het
Tssk5 A G 15: 76,258,713 (GRCm39) S58P probably benign Het
Ttc9b T C 7: 27,354,384 (GRCm39) Y157H probably damaging Het
Tuba8 A G 6: 121,199,871 (GRCm39) Y185C probably damaging Het
Ubr2 C T 17: 47,266,771 (GRCm39) A1127T probably damaging Het
Yipf3 T A 17: 46,559,855 (GRCm39) L57Q possibly damaging Het
Zbtb32 A C 7: 30,289,606 (GRCm39) C19G probably damaging Het
Zfp735 A T 11: 73,602,979 (GRCm39) H641L possibly damaging Het
Zfyve28 A T 5: 34,389,571 (GRCm39) Y210N probably damaging Het
Zpr1 T A 9: 46,184,671 (GRCm39) probably null 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
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
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'- CCTGAACACTGTTGATCTGTGG -3'
(R):5'- CAGTGTTGTGATCTGCTACCC -3'

Sequencing Primer
(F):5'- ATCTGTGGGTGGCTTTCCATG -3'
(R):5'- TTGGACCCTGGCTGACTCTG -3'
Posted On 2019-09-13