Incidental Mutation 'R7361:Urb1'
ID 571382
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 5730405K23Rik, 4921511H13Rik
MMRRC Submission 045447-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7361 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 90548415-90607301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90571656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 1051 (S1051I)
Ref Sequence ENSEMBL: ENSMUSP00000114717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140920]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000140920
AA Change: S1051I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: S1051I

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: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik C T 6: 132,604,434 (GRCm39) V4I unknown Het
Actn1 A T 12: 80,240,489 (GRCm39) D199E probably benign Het
Adam17 T C 12: 21,375,602 (GRCm39) D739G probably damaging Het
Agmat T C 4: 141,474,163 (GRCm39) S15P probably benign Het
Ahsa2 A G 11: 23,441,099 (GRCm39) S229P probably damaging Het
Arhgef3 A G 14: 26,987,535 (GRCm39) D36G possibly damaging Het
C6 C A 15: 4,826,404 (GRCm39) Y662* probably null Het
Ccs T C 19: 4,883,378 (GRCm39) D140G probably benign Het
Cdc42bpb A G 12: 111,312,039 (GRCm39) L65P probably damaging Het
Cdh24 A T 14: 54,876,378 (GRCm39) V149E possibly damaging Het
Cdk12 C A 11: 98,101,294 (GRCm39) S384* probably null Het
Cep350 G A 1: 155,777,237 (GRCm39) A1701V probably damaging Het
Ces1g T C 8: 94,060,307 (GRCm39) Q104R not run Het
Chd5 A G 4: 152,447,745 (GRCm39) H537R probably damaging Het
Cln5 T A 14: 103,313,339 (GRCm39) V197D probably damaging Het
Coq7 A G 7: 118,128,798 (GRCm39) V79A probably benign Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Cplx2 A T 13: 54,526,639 (GRCm39) M16L probably benign Het
Crot A G 5: 9,027,534 (GRCm39) L266S probably damaging Het
Ctbs T A 3: 146,164,509 (GRCm39) Y221N probably damaging Het
Cul7 T A 17: 46,967,933 (GRCm39) L707Q probably damaging Het
D430041D05Rik G A 2: 104,085,363 (GRCm39) T378I possibly damaging Het
Dixdc1 T C 9: 50,599,953 (GRCm39) I364V probably damaging Het
Dnah11 T A 12: 117,982,477 (GRCm39) H2564L probably damaging Het
Dnajc3 T C 14: 119,175,576 (GRCm39) Y26H probably benign Het
Dpysl2 G A 14: 67,071,664 (GRCm39) H159Y possibly damaging Het
Ehmt1 T A 2: 24,746,713 (GRCm39) K423I possibly damaging Het
Eif1ad4 A G 12: 87,862,170 (GRCm39) N11D unknown Het
Enpp7 A G 11: 118,882,985 (GRCm39) N353S probably benign Het
Ext1 G A 15: 53,208,119 (GRCm39) A214V probably damaging Het
Fbh1 A T 2: 11,751,887 (GRCm39) I937N probably damaging Het
Fbxo39 T C 11: 72,207,800 (GRCm39) Y51H possibly damaging Het
Firrm A T 1: 163,813,602 (GRCm39) D207E possibly damaging Het
Fry A G 5: 150,360,312 (GRCm39) H1986R possibly damaging Het
Grem2 T C 1: 174,664,514 (GRCm39) K112E probably benign Het
Gucy1a1 A G 3: 82,005,027 (GRCm39) V586A probably damaging Het
Il12rb2 G T 6: 67,280,450 (GRCm39) L586I possibly damaging Het
Il18 T C 9: 50,490,614 (GRCm39) I83T probably damaging Het
Irs1 A T 1: 82,266,835 (GRCm39) Y460* probably null Het
Jak1 G T 4: 101,041,536 (GRCm39) Q161K possibly damaging Het
Jakmip1 T A 5: 37,276,148 (GRCm39) L486Q probably damaging Het
Jmjd1c C A 10: 67,054,143 (GRCm39) Q16K probably benign Het
Kidins220 T C 12: 25,106,999 (GRCm39) L1393P probably benign Het
Klhl24 A C 16: 19,936,750 (GRCm39) I453L probably benign Het
Krtap2-4 C T 11: 99,505,420 (GRCm39) D64N probably damaging Het
Man1a T A 10: 53,784,105 (GRCm39) D592V probably damaging Het
Mepe T A 5: 104,485,009 (GRCm39) Y50N probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Muc4 T A 16: 32,754,670 (GRCm38) S1515T probably benign Het
Nalcn T C 14: 123,529,251 (GRCm39) D1408G probably benign Het
Nav1 T C 1: 135,380,591 (GRCm39) M1443V unknown Het
Nckap1l A C 15: 103,379,709 (GRCm39) N332T possibly damaging Het
Neurl4 T A 11: 69,802,905 (GRCm39) L1467Q probably benign Het
Notch2 A G 3: 98,038,718 (GRCm39) N1287S probably benign Het
Nr4a3 C T 4: 48,083,203 (GRCm39) P579S probably benign Het
Nrxn2 A T 19: 6,567,112 (GRCm39) H1329L probably benign Het
Nynrin A T 14: 56,107,857 (GRCm39) H988L possibly damaging Het
Or1e34 T A 11: 73,778,827 (GRCm39) I124F probably damaging Het
Or4c31 A G 2: 88,291,836 (GRCm39) T70A probably benign Het
Or4c3d A G 2: 89,882,089 (GRCm39) I193T probably benign Het
Or52e3 G T 7: 102,869,830 (GRCm39) D302Y possibly damaging Het
Or7g35 T A 9: 19,495,856 (GRCm39) F8I probably benign Het
Pclo G A 5: 14,843,882 (GRCm39) S1534N probably damaging Het
Pign A G 1: 105,512,778 (GRCm39) V635A probably benign Het
Pkhd1 T C 1: 20,664,177 (GRCm39) T134A probably damaging Het
Plcb4 A T 2: 135,818,068 (GRCm39) N790I possibly damaging Het
Plxna2 G T 1: 194,482,087 (GRCm39) C1453F probably damaging Het
Plxna4 A G 6: 32,173,057 (GRCm39) probably null Het
Pnpla2 A G 7: 141,037,344 (GRCm39) I116V possibly damaging Het
Polq A G 16: 36,880,790 (GRCm39) T985A probably benign Het
Pramel11 T C 4: 143,622,456 (GRCm39) T300A possibly damaging Het
Prex1 T C 2: 166,555,490 (GRCm39) N50S probably benign Het
Ptgfrn G A 3: 100,984,760 (GRCm39) A144V probably benign Het
Rad54b G A 4: 11,599,782 (GRCm39) G329S probably damaging Het
Rrbp1 A G 2: 143,809,364 (GRCm39) L931S probably benign Het
Saxo4 T G 19: 10,456,943 (GRCm39) D134A probably damaging Het
Sipa1l2 A G 8: 126,180,071 (GRCm39) S1109P probably damaging Het
Slc26a7 G T 4: 14,546,305 (GRCm39) N341K probably damaging Het
Smg1 A C 7: 117,784,200 (GRCm39) D958E unknown Het
Smg6 T A 11: 74,820,979 (GRCm39) S417T probably benign Het
Srgap3 A G 6: 112,723,882 (GRCm39) V550A probably damaging Het
Terb1 T A 8: 105,195,431 (GRCm39) D570V probably damaging Het
Tet3 A G 6: 83,345,076 (GRCm39) V1787A probably benign Het
Tor1a A T 2: 30,853,753 (GRCm39) D192E probably benign Het
Tpr T C 1: 150,323,372 (GRCm39) S2379P possibly damaging Het
Trip12 A T 1: 84,728,163 (GRCm39) F1138L probably damaging Het
Trpv1 T C 11: 73,151,203 (GRCm39) L797P probably damaging Het
Tut1 T C 19: 8,942,698 (GRCm39) L595P probably damaging Het
Ubl7 T C 9: 57,821,905 (GRCm39) S85P probably damaging Het
Usp17le A G 7: 104,418,084 (GRCm39) W353R probably damaging Het
Usp44 T C 10: 93,682,330 (GRCm39) L260S probably benign Het
Wsb1 T A 11: 79,131,623 (GRCm39) probably null Het
Xrcc2 A T 5: 25,897,755 (GRCm39) C65S probably damaging Het
Zfp316 T A 5: 143,240,430 (GRCm39) M530L probably benign Het
Zfp473 T C 7: 44,382,563 (GRCm39) H590R probably damaging Het
Zfp983 T A 17: 21,880,850 (GRCm39) H259Q 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
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
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'- TGACTTCTCGAATCTGGACACC -3'
(R):5'- TCTGGCTCTGTGATGAATGAAG -3'

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