Incidental Mutation 'R0508:Urb1'
ID 47756
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 5730405K23Rik, 4921511H13Rik
MMRRC Submission 038703-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0508 (G1)
Quality Score 84
Status Validated
Chromosome 16
Chromosomal Location 90548415-90607301 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 90580150 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142955
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,211,162 (GRCm39) L632P probably damaging Het
4833439L19Rik A G 13: 54,700,863 (GRCm39) probably null Het
Abca4 T C 3: 121,917,200 (GRCm39) probably benign Het
Adamts10 G T 17: 33,762,692 (GRCm39) G557V probably damaging Het
Adgrg6 T C 10: 14,326,360 (GRCm39) H424R probably benign Het
Ano4 T C 10: 88,816,839 (GRCm39) Q623R probably damaging Het
Ap1g1 T A 8: 110,564,364 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,702,222 (GRCm39) S1092P unknown Het
Arhgap32 A T 9: 32,101,364 (GRCm39) probably benign Het
Arhgap40 A T 2: 158,388,670 (GRCm39) S535C probably damaging Het
Atp9a T C 2: 168,491,446 (GRCm39) probably null Het
Bicral A T 17: 47,136,327 (GRCm39) H294Q possibly damaging Het
Ccdc121rt3 T C 5: 112,502,685 (GRCm39) K340E probably damaging Het
Cdhr5 T A 7: 140,852,812 (GRCm39) H58L probably benign Het
Cenpt T C 8: 106,576,147 (GRCm39) E100G possibly damaging Het
Cep97 A G 16: 55,750,969 (GRCm39) S16P probably benign Het
Clec2i T A 6: 128,870,663 (GRCm39) V67D probably damaging Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Coq6 G T 12: 84,414,913 (GRCm39) probably benign Het
Cyp1a1 A G 9: 57,607,588 (GRCm39) Q72R probably benign Het
Ep400 A G 5: 110,887,374 (GRCm39) S570P probably benign Het
Erbin T C 13: 103,970,535 (GRCm39) N1027S probably damaging Het
Exog T A 9: 119,277,444 (GRCm39) probably benign Het
Fahd1 A C 17: 25,068,975 (GRCm39) V34G probably benign Het
Fetub C T 16: 22,748,045 (GRCm39) R74W probably benign Het
Fhip2a T A 19: 57,367,174 (GRCm39) L239Q probably benign Het
Frmpd1 G A 4: 45,284,938 (GRCm39) G1253D unknown Het
Galnt12 A G 4: 47,104,255 (GRCm39) D171G probably damaging Het
Gm973 G T 1: 59,621,649 (GRCm39) probably benign Het
Hdlbp C A 1: 93,342,533 (GRCm39) probably null Het
Il1rl1 T A 1: 40,490,877 (GRCm39) I386N possibly damaging Het
Itgav T C 2: 83,623,002 (GRCm39) probably benign Het
Magoh A C 4: 107,742,195 (GRCm39) K114Q possibly damaging Het
Mdfic2 T C 6: 98,215,005 (GRCm39) probably benign Het
Mki67 A T 7: 135,302,075 (GRCm39) D986E probably benign Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Nckap5 T C 1: 125,909,121 (GRCm39) probably null Het
Neu1 A G 17: 35,151,760 (GRCm39) I185V probably benign Het
Nkiras1 T A 14: 18,278,524 (GRCm38) D79E probably damaging Het
Nkx3-1 A G 14: 69,428,350 (GRCm39) E66G probably benign Het
Or51a5 A T 7: 102,771,193 (GRCm39) I262N possibly damaging Het
Osbpl11 T A 16: 33,016,465 (GRCm39) N73K probably benign Het
Otulin C T 15: 27,608,944 (GRCm39) V2I possibly damaging Het
Pdss2 CGGAG CG 10: 43,097,927 (GRCm39) probably benign Het
Pld2 T C 11: 70,443,368 (GRCm39) M421T probably damaging Het
Rgs11 A G 17: 26,426,443 (GRCm39) probably benign Het
Rrad A T 8: 105,356,500 (GRCm39) D133E possibly damaging Het
Scaf11 A G 15: 96,318,368 (GRCm39) S399P probably damaging Het
Sccpdh A G 1: 179,508,080 (GRCm39) probably null Het
Scn2a A G 2: 65,548,186 (GRCm39) E1126G probably damaging Het
Selenop T G 15: 3,305,202 (GRCm39) D119E probably benign Het
Serpinb3c T A 1: 107,204,651 (GRCm39) S32C probably damaging Het
Serpine1 C A 5: 137,093,770 (GRCm39) K315N probably benign Het
Slc27a1 T C 8: 72,032,872 (GRCm39) probably benign Het
Slc4a8 G A 15: 100,686,973 (GRCm39) R259Q probably benign Het
Smtnl2 C T 11: 72,293,962 (GRCm39) R198Q probably damaging Het
Spta1 A C 1: 174,052,023 (GRCm39) Y1819S probably damaging Het
Stard3 T A 11: 98,263,140 (GRCm39) I65N probably damaging Het
Tfrc T C 16: 32,448,997 (GRCm39) L712P probably damaging Het
Tmem201 G A 4: 149,816,343 (GRCm39) R62C probably damaging Het
Trim5 A T 7: 103,914,811 (GRCm39) F410L probably null Het
Txndc2 T A 17: 65,944,948 (GRCm39) I410F probably benign Het
Vmn1r34 A T 6: 66,614,392 (GRCm39) F115L probably benign Het
Vnn1 T C 10: 23,770,910 (GRCm39) V46A probably benign Het
Xrn1 T A 9: 95,933,789 (GRCm39) S1615R probably benign Het
Zfand4 T A 6: 116,262,828 (GRCm39) C118S probably damaging Het
Zfp952 G A 17: 33,221,979 (GRCm39) E115K possibly damaging Het
Zfpm1 T C 8: 123,061,872 (GRCm39) F368L 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
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
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'- GCCACAGCTCTGAAACAGTTTCCC -3'
(R):5'- TCAGTAAGTACTGCCCCTTGTCACC -3'

Sequencing Primer
(F):5'- AGAGTGCTAGTCCTGACTGAC -3'
(R):5'- CCCCTTGTCACCTGTGC -3'
Posted On 2013-06-12