Incidental Mutation 'R1144:Urb1'
ID233282
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene NameURB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms4921511H13Rik, 5730405K23Rik
MMRRC Submission 039217-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #R1144 (G1)
Quality Score53
Status Validated
Chromosome16
Chromosomal Location90751527-90810413 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 90776318 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140920]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140158
Predicted Effect probably null
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
Meta Mutation Damage Score 0.6176 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 120,360,860 probably benign Het
Abcc5 A T 16: 20,422,438 probably benign Het
Acsl5 A C 19: 55,291,843 D516A probably damaging Het
Adcy1 G A 11: 7,137,400 A425T probably damaging Het
Aebp1 A G 11: 5,868,475 T107A probably benign Het
Arhgef33 T C 17: 80,355,044 S219P probably benign Het
Atm T G 9: 53,511,698 probably benign Het
C1ql2 A C 1: 120,342,537 Y276S probably damaging Het
Cacna2d1 T C 5: 16,322,597 probably null Het
Cmbl A G 15: 31,581,874 N6D probably benign Het
Cntn3 A G 6: 102,242,126 V511A possibly damaging Het
Coq9 C A 8: 94,842,623 R28S probably benign Het
Creld1 T C 6: 113,483,961 F20S probably benign Het
Dcstamp A G 15: 39,760,368 K404E possibly damaging Het
Dip2b T A 15: 100,154,250 I244K probably benign Het
Dnhd1 G A 7: 105,713,031 E3700K probably damaging Het
Dnmt3l T A 10: 78,051,905 C110S probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fgfr1 T G 8: 25,558,143 V172G probably damaging Het
Frem3 C A 8: 80,611,884 Q269K probably benign Het
Frmd6 C A 12: 70,877,168 H67N probably damaging Het
Fry A G 5: 150,418,464 T1532A possibly damaging Het
Git2 G T 5: 114,753,314 S243R probably benign Het
Grid1 A G 14: 35,562,676 probably benign Het
Grp A G 18: 65,879,970 D69G probably damaging Het
Hmbox1 A T 14: 64,825,683 L347Q probably damaging Het
Hrasls5 A G 19: 7,613,330 D74G probably benign Het
Hsh2d C T 8: 72,193,592 probably benign Het
Itpr3 G A 17: 27,114,923 S2018N probably benign Het
Kif13b T A 14: 64,714,117 V69D probably benign Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Lmcd1 T A 6: 112,310,751 probably benign Het
Megf9 C A 4: 70,534,624 A67S probably benign Het
Myo5b G A 18: 74,625,587 R213H probably damaging Het
Myo5c T A 9: 75,286,448 Y1162N probably damaging Het
Nphs1 A G 7: 30,481,678 probably benign Het
Ntrk1 G A 3: 87,781,542 T568I probably damaging Het
Pcmtd1 A G 1: 7,120,481 H58R probably damaging Het
Plxna4 A T 6: 32,197,156 I1168N possibly damaging Het
Ppm1h A G 10: 122,941,278 D483G probably benign Het
Prdm15 G A 16: 97,808,708 R579C probably damaging Het
Prickle1 T A 15: 93,512,461 R41W probably damaging Het
Rbm19 A G 5: 120,123,016 D235G possibly damaging Het
Smco2 A G 6: 146,871,140 probably benign Het
Sned1 G C 1: 93,280,576 G785R probably damaging Het
Stat4 A G 1: 52,084,129 probably benign Het
Syne2 T A 12: 75,966,524 F2830I probably benign Het
Tbc1d9 A G 8: 83,236,571 D304G possibly damaging Het
Thsd7a G A 6: 12,471,027 probably benign Het
Tmem63b T A 17: 45,666,427 K383N probably benign Het
Trp53rka C A 2: 165,493,041 probably benign Het
Trub1 G A 19: 57,485,131 V207M probably benign Het
Ulk2 A T 11: 61,800,060 C551S possibly damaging Het
Vmn1r219 C A 13: 23,163,213 Q191K probably damaging Het
Vmn2r1 A T 3: 64,090,120 D399V probably damaging Het
Vmn2r87 A G 10: 130,476,229 probably benign Het
Wars A T 12: 108,888,365 L41* probably null Het
Washc2 G A 6: 116,224,534 E64K probably damaging Het
Washc4 G A 10: 83,580,330 R828Q probably damaging Het
Wdr59 A T 8: 111,486,944 M313K probably benign Het
Wscd2 G A 5: 113,561,090 probably null Het
Zdhhc20 A C 14: 57,856,678 L176V probably benign Het
Other mutations in Urb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Urb1 APN 16 90753321 critical splice donor site probably null
IGL00915:Urb1 APN 16 90779098 missense possibly damaging 0.76
IGL01108:Urb1 APN 16 90792814 missense probably damaging 1.00
IGL01122:Urb1 APN 16 90804458 missense possibly damaging 0.81
IGL01387:Urb1 APN 16 90757761 missense possibly damaging 0.64
IGL01484:Urb1 APN 16 90777560 missense probably benign 0.11
IGL01606:Urb1 APN 16 90760459 missense probably damaging 1.00
IGL01989:Urb1 APN 16 90769586 splice site probably benign
IGL02516:Urb1 APN 16 90772695 missense possibly damaging 0.49
IGL03018:Urb1 APN 16 90788156 missense probably benign 0.02
IGL03165:Urb1 APN 16 90780304 missense probably damaging 1.00
IGL03216:Urb1 APN 16 90788114 missense probably benign 0.00
H8562:Urb1 UTSW 16 90769469 missense probably benign 0.08
H8786:Urb1 UTSW 16 90769469 missense probably benign 0.08
R0064:Urb1 UTSW 16 90779140 missense probably benign
R0064:Urb1 UTSW 16 90779140 missense probably benign
R0359:Urb1 UTSW 16 90791160 missense probably damaging 1.00
R0386:Urb1 UTSW 16 90796399 missense probably damaging 1.00
R0508:Urb1 UTSW 16 90783262 splice site probably benign
R0517:Urb1 UTSW 16 90777422 nonsense probably null
R0704:Urb1 UTSW 16 90776207 missense probably benign 0.31
R0755:Urb1 UTSW 16 90774094 missense probably damaging 1.00
R0755:Urb1 UTSW 16 90779138 missense probably benign
R0783:Urb1 UTSW 16 90810297 missense possibly damaging 0.55
R0833:Urb1 UTSW 16 90795448 missense possibly damaging 0.89
R0836:Urb1 UTSW 16 90795448 missense possibly damaging 0.89
R0970:Urb1 UTSW 16 90769447 missense possibly damaging 0.83
R1344:Urb1 UTSW 16 90769466 missense probably damaging 1.00
R1418:Urb1 UTSW 16 90769466 missense probably damaging 1.00
R1453:Urb1 UTSW 16 90796492 missense probably damaging 1.00
R1470:Urb1 UTSW 16 90752014 missense probably benign 0.34
R1470:Urb1 UTSW 16 90752014 missense probably benign 0.34
R1520:Urb1 UTSW 16 90774745 missense probably benign 0.00
R1521:Urb1 UTSW 16 90753863 missense probably damaging 1.00
R1598:Urb1 UTSW 16 90777440 missense possibly damaging 0.93
R1617:Urb1 UTSW 16 90760452 missense possibly damaging 0.82
R1625:Urb1 UTSW 16 90774048 critical splice donor site probably null
R1640:Urb1 UTSW 16 90772626 missense probably benign 0.00
R1664:Urb1 UTSW 16 90788082 critical splice donor site probably null
R1672:Urb1 UTSW 16 90787397 missense probably damaging 1.00
R1694:Urb1 UTSW 16 90767040 missense probably benign
R1856:Urb1 UTSW 16 90761695 missense probably benign 0.00
R2001:Urb1 UTSW 16 90762344 missense probably benign 0.30
R2196:Urb1 UTSW 16 90774256 missense probably benign 0.01
R2850:Urb1 UTSW 16 90774256 missense probably benign 0.01
R3009:Urb1 UTSW 16 90774798 missense probably benign 0.09
R3104:Urb1 UTSW 16 90795443 missense probably damaging 1.00
R3105:Urb1 UTSW 16 90795443 missense probably damaging 1.00
R3106:Urb1 UTSW 16 90795443 missense probably damaging 1.00
R3160:Urb1 UTSW 16 90797903 missense probably damaging 1.00
R3162:Urb1 UTSW 16 90797903 missense probably damaging 1.00
R3900:Urb1 UTSW 16 90783376 missense possibly damaging 0.86
R4014:Urb1 UTSW 16 90769465 missense probably damaging 1.00
R4036:Urb1 UTSW 16 90788086 missense probably benign
R4332:Urb1 UTSW 16 90774537 missense probably damaging 1.00
R4448:Urb1 UTSW 16 90769394 missense possibly damaging 0.71
R4581:Urb1 UTSW 16 90788146 missense probably benign 0.04
R4593:Urb1 UTSW 16 90787444 missense probably damaging 1.00
R4610:Urb1 UTSW 16 90776271 missense probably benign 0.43
R4659:Urb1 UTSW 16 90776129 missense probably damaging 0.96
R4672:Urb1 UTSW 16 90772634 missense probably benign
R4681:Urb1 UTSW 16 90804537 missense probably damaging 0.99
R4771:Urb1 UTSW 16 90753518 missense probably benign 0.00
R4790:Urb1 UTSW 16 90769555 nonsense probably null
R4798:Urb1 UTSW 16 90757827 missense probably benign 0.12
R4809:Urb1 UTSW 16 90759842 missense possibly damaging 0.82
R4850:Urb1 UTSW 16 90795414 nonsense probably null
R4916:Urb1 UTSW 16 90783328 missense probably damaging 1.00
R4969:Urb1 UTSW 16 90805411 missense probably damaging 1.00
R5032:Urb1 UTSW 16 90756171 missense probably benign 0.00
R5111:Urb1 UTSW 16 90752017 missense probably benign 0.00
R5122:Urb1 UTSW 16 90752095 nonsense probably null
R5184:Urb1 UTSW 16 90783274 critical splice donor site probably null
R5199:Urb1 UTSW 16 90792748 missense possibly damaging 0.95
R5436:Urb1 UTSW 16 90792762 missense probably damaging 1.00
R5767:Urb1 UTSW 16 90776163 missense probably benign 0.00
R5812:Urb1 UTSW 16 90804537 missense probably damaging 0.99
R5872:Urb1 UTSW 16 90772764 nonsense probably null
R6052:Urb1 UTSW 16 90762383 missense probably damaging 1.00
R6063:Urb1 UTSW 16 90789097 missense probably benign 0.02
R6065:Urb1 UTSW 16 90803332 missense probably benign 0.03
R6181:Urb1 UTSW 16 90779094 missense probably benign 0.00
R6268:Urb1 UTSW 16 90753919 missense probably benign 0.03
R6429:Urb1 UTSW 16 90762430 splice site probably null
R6572:Urb1 UTSW 16 90787414 missense probably benign 0.37
R6606:Urb1 UTSW 16 90810268 missense probably benign 0.00
R6730:Urb1 UTSW 16 90779083 missense possibly damaging 0.89
R6838:Urb1 UTSW 16 90782106 missense possibly damaging 0.93
Predicted Primers
Posted On2014-09-25