Incidental Mutation 'R7341:Urb1'
ID 569895
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 5730405K23Rik, 4921511H13Rik
MMRRC Submission 045431-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7341 (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: 99.3%
Validation Efficiency 100% (92/92)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Adam3 T A 8: 25,177,996 (GRCm39) N639I possibly damaging Het
Adamtsl3 T A 7: 82,206,082 (GRCm39) C756S probably damaging Het
Arhgap31 C T 16: 38,532,876 (GRCm39) probably null Het
Ascl4 G A 10: 85,764,529 (GRCm39) A59T possibly damaging Het
Ash1l T A 3: 88,889,066 (GRCm39) I315N possibly damaging Het
Atp6v0d2 T C 4: 19,887,330 (GRCm39) D206G possibly damaging Het
Baz1b T A 5: 135,251,970 (GRCm39) L923I probably damaging Het
Birc6 T A 17: 74,919,069 (GRCm39) N1966K probably damaging Het
Bod1l T C 5: 41,946,200 (GRCm39) N3025S probably benign Het
Bub1b C A 2: 118,467,267 (GRCm39) H863Q possibly damaging Het
C1rb T A 6: 124,554,411 (GRCm39) Y397* probably null Het
Ccdc180 A G 4: 45,898,644 (GRCm39) E164G possibly damaging Het
Ccdc9 C T 7: 16,014,552 (GRCm39) V230M probably damaging Het
Cchcr1 C A 17: 35,837,610 (GRCm39) N437K probably benign Het
Cdhr2 T A 13: 54,867,305 (GRCm39) L408Q probably damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Chd1 T C 17: 15,990,499 (GRCm39) S1684P probably damaging Het
CN725425 A G 15: 91,126,873 (GRCm39) Y221C possibly damaging Het
Col4a2 T C 8: 11,448,678 (GRCm39) V66A probably damaging Het
Cpd C A 11: 76,737,779 (GRCm39) R5L unknown Het
Cpeb4 C T 11: 31,868,807 (GRCm39) T422I possibly damaging Het
Cspg4b G T 13: 113,454,706 (GRCm39) G251C Het
Cyp1a1 G T 9: 57,608,107 (GRCm39) R245L probably damaging Het
Cyp4f39 A G 17: 32,705,928 (GRCm39) T340A probably damaging Het
Cyp4v3 A T 8: 45,774,787 (GRCm39) F122L probably benign Het
Drc1 T A 5: 30,521,812 (GRCm39) L728Q probably damaging Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Ecpas A T 4: 58,809,415 (GRCm39) V1653D possibly damaging Het
Ermp1 T A 19: 29,623,654 (GRCm39) H112L probably benign Het
Exoc8 T C 8: 125,623,320 (GRCm39) D349G probably damaging Het
Fam151a T A 4: 106,592,707 (GRCm39) M63K probably benign Het
Fmo9 C A 1: 166,504,115 (GRCm39) G149V probably damaging Het
Fndc8 A G 11: 82,789,603 (GRCm39) T254A possibly damaging Het
Foxi3 G A 6: 70,937,862 (GRCm39) V365I probably benign Het
Frem2 C T 3: 53,561,916 (GRCm39) G864S probably damaging Het
Fstl5 T A 3: 76,389,704 (GRCm39) probably null Het
Garnl3 T A 2: 32,924,141 (GRCm39) E247V probably damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gorasp1 T A 9: 119,766,600 (GRCm39) probably benign Het
Hcar2 T C 5: 124,002,541 (GRCm39) N321D possibly damaging Het
Hoxb6 G T 11: 96,190,395 (GRCm39) M131I probably damaging Het
Kif13a A G 13: 46,980,221 (GRCm39) V177A probably damaging Het
Limch1 C T 5: 67,191,545 (GRCm39) T794I probably benign Het
Lmbrd2 A G 15: 9,165,906 (GRCm39) Y260C possibly damaging Het
Lmo7 A G 14: 102,122,948 (GRCm39) N379S probably benign Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrc14 A T 15: 76,598,711 (GRCm39) E449V probably damaging Het
Lrrc8c T C 5: 105,755,133 (GRCm39) Y303H probably damaging Het
Mecr T G 4: 131,570,986 (GRCm39) V58G probably null Het
Med12l T A 3: 58,949,824 (GRCm39) D193E possibly damaging Het
Moap1 T C 12: 102,709,438 (GRCm39) E37G probably damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Ndufs5 A T 4: 123,609,744 (GRCm39) C43* probably null Het
Oaz2 A T 9: 65,596,183 (GRCm39) D83V Het
Or2t29 A T 11: 58,433,533 (GRCm39) Y269* probably null Het
Or5ac22 T A 16: 59,135,512 (GRCm39) N86I possibly damaging Het
Palm A G 10: 79,652,697 (GRCm39) T191A probably damaging Het
Pclo C A 5: 14,725,850 (GRCm39) D1569E unknown Het
Ppid T A 3: 79,507,604 (GRCm39) D264E probably benign Het
Ppp1r3a A G 6: 14,718,749 (GRCm39) S722P probably damaging Het
Ranbp2 A G 10: 58,321,619 (GRCm39) S2639G possibly damaging Het
Rbak T C 5: 143,161,827 (GRCm39) T68A probably benign Het
Rbm15b C T 9: 106,762,246 (GRCm39) G641R probably benign Het
Rgsl1 A G 1: 153,669,591 (GRCm39) I265T probably benign Het
Rmdn1 T A 4: 19,586,837 (GRCm39) Y98* probably null Het
Sfxn3 T G 19: 45,037,701 (GRCm39) N52K probably benign Het
Slc17a3 G T 13: 24,030,867 (GRCm39) G182* probably null Het
Slc29a3 A T 10: 60,586,437 (GRCm39) Y10N probably benign Het
Slc43a1 T C 2: 84,693,278 (GRCm39) Y577H probably damaging Het
Smarcd3 T A 5: 24,800,435 (GRCm39) I210F possibly damaging Het
Snapc4 A T 2: 26,259,273 (GRCm39) S626T probably benign Het
Sp5 T A 2: 70,307,041 (GRCm39) L242* probably null Het
Spata25 C G 2: 164,669,582 (GRCm39) G143A probably damaging Het
Spata6 T A 4: 111,625,935 (GRCm39) Y101* probably null Het
Tdp2 T G 13: 25,016,059 (GRCm39) S89A probably benign Het
Tlr6 T C 5: 65,110,972 (GRCm39) E645G probably benign Het
Tmem209 T C 6: 30,494,794 (GRCm39) I355V probably benign Het
Trappc8 A T 18: 20,985,704 (GRCm39) Y646N probably damaging Het
Tspoap1 A G 11: 87,657,205 (GRCm39) N399S probably damaging Het
Ube4b A G 4: 149,427,458 (GRCm39) Y897H probably damaging Het
Usp9y A T Y: 1,315,759 (GRCm39) probably null Het
Vmn2r1 T C 3: 64,012,877 (GRCm39) *913Q probably null Het
Vmn2r12 T A 5: 109,234,113 (GRCm39) T700S possibly damaging Het
Vmn2r12 C T 5: 109,239,811 (GRCm39) A251T possibly damaging Het
Wdr70 A C 15: 7,953,725 (GRCm39) F389V possibly damaging Het
Wdr91 A T 6: 34,868,395 (GRCm39) M442K possibly damaging Het
Ydjc T C 16: 16,968,762 (GRCm39) C234R probably benign Het
Zfp87 A G 13: 74,520,467 (GRCm39) Y204H possibly 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
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'- ACCTGAACACTGTTGATCTGTGG -3'
(R):5'- AGTGTTGTGATCTGCTACCC -3'

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