Incidental Mutation 'R5436:Urb1'
ID 428389
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 4921511H13Rik, 5730405K23Rik
MMRRC Submission 043001-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5436 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90751527-90810413 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90792762 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 377 (Y377C)
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: Y377C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: Y377C

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 0.7752 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (106/107)
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C A 2: 130,764,499 (GRCm38) K415N probably benign Het
4930449A18Rik T C 3: 59,846,693 (GRCm38) noncoding transcript Het
Abca9 G A 11: 110,134,236 (GRCm38) L994F probably damaging Het
Abl2 A T 1: 156,629,880 (GRCm38) S239C probably damaging Het
Acsl5 T A 19: 55,279,565 (GRCm38) probably null Het
Aff1 C T 5: 103,783,870 (GRCm38) T126I probably damaging Het
Amtn T C 5: 88,381,626 (GRCm38) L107P probably damaging Het
Ankrd45 A G 1: 161,159,112 (GRCm38) probably benign Het
Arl6ip5 G A 6: 97,210,926 (GRCm38) V36I probably damaging Het
Ascc3 T A 10: 50,658,983 (GRCm38) D657E probably damaging Het
Ascl1 T A 10: 87,492,946 (GRCm38) Q48L unknown Het
Asic4 T A 1: 75,451,319 (GRCm38) V163E probably benign Het
Atm A T 9: 53,459,804 (GRCm38) M2245K probably benign Het
Barx2 T G 9: 31,912,989 (GRCm38) T35P probably damaging Het
BC027072 A T 17: 71,750,842 (GRCm38) S613R probably damaging Het
Bdh1 C T 16: 31,456,657 (GRCm38) R235C probably damaging Het
C8b T A 4: 104,800,349 (GRCm38) Y404* probably null Het
Car5a A G 8: 121,917,242 (GRCm38) probably benign Het
Ccdc13 T C 9: 121,799,043 (GRCm38) I169M probably benign Het
Cd163 A T 6: 124,327,964 (GRCm38) D1100V probably benign Het
Cntfr T C 4: 41,663,322 (GRCm38) N162D probably damaging Het
Cops3 T G 11: 59,824,345 (GRCm38) D289A probably damaging Het
Crbn A T 6: 106,795,900 (GRCm38) S42R probably damaging Het
Cth T A 3: 157,894,826 (GRCm38) H397L probably benign Het
Dact2 A G 17: 14,195,748 (GRCm38) L730P probably damaging Het
Dhx37 C T 5: 125,429,803 (GRCm38) G210R probably benign Het
Dnah1 T C 14: 31,316,747 (GRCm38) I126V probably benign Het
Dnttip2 T C 3: 122,278,769 (GRCm38) I566T probably damaging Het
Ehbp1l1 G T 19: 5,716,248 (GRCm38) R412S possibly damaging Het
Fam110b A C 4: 5,799,104 (GRCm38) Q174P probably benign Het
Fam149a A T 8: 45,348,471 (GRCm38) S457T probably benign Het
Fat3 A C 9: 15,960,514 (GRCm38) V3527G probably benign Het
Fat4 A G 3: 38,891,346 (GRCm38) M1463V probably benign Het
Gak T A 5: 108,592,352 (GRCm38) I566F possibly damaging Het
Gdf10 T A 14: 33,932,256 (GRCm38) I240N probably damaging Het
Gprc6a T A 10: 51,626,702 (GRCm38) H355L probably benign Het
Gxylt1 T C 15: 93,247,899 (GRCm38) K338R probably damaging Het
Hexim2 A T 11: 103,138,269 (GRCm38) E49V probably null Het
Hfm1 T C 5: 106,892,772 (GRCm38) D709G possibly damaging Het
Ighv1-49 T C 12: 115,055,461 (GRCm38) K19R probably damaging Het
Il17a T A 1: 20,733,646 (GRCm38) Y88* probably null Het
Iqsec1 A T 6: 90,845,361 (GRCm38) probably benign Het
Itih2 T C 2: 10,105,196 (GRCm38) D582G probably benign Het
Klc3 T C 7: 19,397,959 (GRCm38) probably null Het
Larp4 T A 15: 99,986,114 (GRCm38) N78K probably damaging Het
Larp4b A G 13: 9,168,900 (GRCm38) D526G possibly damaging Het
Lexm A T 4: 106,610,493 (GRCm38) H315Q probably benign Het
Limch1 T C 5: 66,974,566 (GRCm38) V133A possibly damaging Het
Lmbr1l G A 15: 98,904,791 (GRCm38) R426C probably damaging Het
Lox T A 18: 52,529,103 (GRCm38) D76V probably benign Het
Lrrc8d T A 5: 105,812,552 (GRCm38) I276N probably damaging Het
Ltbr G A 6: 125,312,794 (GRCm38) R146W probably damaging Het
March10 A T 11: 105,402,165 (GRCm38) Y139N possibly damaging Het
Mrc1 T G 2: 14,266,515 (GRCm38) I410S probably damaging Het
Mrto4 A T 4: 139,347,965 (GRCm38) C176S probably damaging Het
Mtch1 G T 17: 29,347,590 (GRCm38) D66E probably benign Het
Nbas T G 12: 13,374,811 (GRCm38) L1017R probably damaging Het
Nim1k A G 13: 119,727,529 (GRCm38) probably benign Het
Nlrp6 T A 7: 140,922,717 (GRCm38) Y245* probably null Het
Olfr1264 T A 2: 90,021,665 (GRCm38) M134L probably benign Het
Olfr192 C T 16: 59,098,819 (GRCm38) V58I unknown Het
Olfr224 T A 11: 58,566,937 (GRCm38) H136L probably benign Het
Olfr635 A T 7: 103,979,266 (GRCm38) I25F probably benign Het
Olfr740 T G 14: 50,453,727 (GRCm38) V225G probably damaging Het
Olfr906 A C 9: 38,488,539 (GRCm38) D170A probably benign Het
Pcnx G T 12: 81,860,406 (GRCm38) G12V probably damaging Het
Pdzd3 A G 9: 44,248,355 (GRCm38) V448A possibly damaging Het
Pkp1 T A 1: 135,918,918 (GRCm38) K32M probably damaging Het
Poc5 T C 13: 96,396,813 (GRCm38) W150R probably damaging Het
Ppp1r16b T A 2: 158,757,333 (GRCm38) probably benign Het
Prune2 T A 19: 17,020,643 (GRCm38) M248K probably damaging Het
Rb1 A T 14: 73,213,140 (GRCm38) probably null Het
Rhod A G 19: 4,426,587 (GRCm38) C169R probably benign Het
Rif1 T C 2: 52,120,971 (GRCm38) probably benign Het
Rnpc3 G A 3: 113,624,999 (GRCm38) A100V probably damaging Het
Rsf1 GCGGC GCGGCGGCGTCGGC 7: 97,579,931 (GRCm38) probably benign Het
Scnn1a A T 6: 125,343,022 (GRCm38) D528V possibly damaging Het
Sdhaf3 C A 6: 7,038,855 (GRCm38) T59K probably benign Het
Sec31a C A 5: 100,363,839 (GRCm38) A330S probably damaging Het
Sgk3 A G 1: 9,881,872 (GRCm38) D241G probably damaging Het
Skint6 T G 4: 113,096,591 (GRCm38) I459L probably benign Het
Slco1a5 A T 6: 142,254,392 (GRCm38) V222E probably damaging Het
Slit3 T A 11: 35,707,911 (GRCm38) N1447K probably benign Het
Sorbs2 A G 8: 45,796,001 (GRCm38) H628R probably damaging Het
St6galnac2 A G 11: 116,684,527 (GRCm38) probably benign Het
Tbc1d31 T C 15: 57,952,871 (GRCm38) V667A probably benign Het
Tbx20 A T 9: 24,769,720 (GRCm38) Y159N probably damaging Het
Tmprss11b T A 5: 86,662,233 (GRCm38) Q296L probably benign Het
Ttc6 T A 12: 57,674,594 (GRCm38) probably null Het
Ttn T A 2: 76,870,899 (GRCm38) probably benign Het
Tubgcp4 T A 2: 121,194,182 (GRCm38) F613I probably benign Het
Tubgcp4 T A 2: 121,188,136 (GRCm38) L340H probably damaging Het
Utp15 G A 13: 98,260,846 (GRCm38) probably null Het
Vstm2b A G 7: 40,901,283 (GRCm38) probably null Het
Vwde A T 6: 13,190,628 (GRCm38) V488D probably damaging Het
Wee1 TCCCC TCCC 7: 110,124,569 (GRCm38) probably null Het
Zfp276 A T 8: 123,265,282 (GRCm38) probably benign Het
Zfp318 T A 17: 46,413,049 (GRCm38) S1993T possibly damaging Het
Zfp959 T C 17: 55,897,626 (GRCm38) L218P probably benign Het
Zxdc A G 6: 90,370,560 (GRCm38) D301G probably damaging Het
Other mutations in Urb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Urb1 APN 16 90,753,321 (GRCm38) critical splice donor site probably null
IGL00915:Urb1 APN 16 90,779,098 (GRCm38) missense possibly damaging 0.76
IGL01108:Urb1 APN 16 90,792,814 (GRCm38) missense probably damaging 1.00
IGL01122:Urb1 APN 16 90,804,458 (GRCm38) missense possibly damaging 0.81
IGL01387:Urb1 APN 16 90,757,761 (GRCm38) missense possibly damaging 0.64
IGL01484:Urb1 APN 16 90,777,560 (GRCm38) missense probably benign 0.11
IGL01606:Urb1 APN 16 90,760,459 (GRCm38) missense probably damaging 1.00
IGL01989:Urb1 APN 16 90,769,586 (GRCm38) splice site probably benign
IGL02516:Urb1 APN 16 90,772,695 (GRCm38) missense possibly damaging 0.49
IGL03018:Urb1 APN 16 90,788,156 (GRCm38) missense probably benign 0.02
IGL03165:Urb1 APN 16 90,780,304 (GRCm38) missense probably damaging 1.00
IGL03216:Urb1 APN 16 90,788,114 (GRCm38) missense probably benign 0.00
H8562:Urb1 UTSW 16 90,769,469 (GRCm38) missense probably benign 0.08
H8786:Urb1 UTSW 16 90,769,469 (GRCm38) missense probably benign 0.08
R0064:Urb1 UTSW 16 90,779,140 (GRCm38) missense probably benign
R0064:Urb1 UTSW 16 90,779,140 (GRCm38) missense probably benign
R0359:Urb1 UTSW 16 90,791,160 (GRCm38) missense probably damaging 1.00
R0386:Urb1 UTSW 16 90,796,399 (GRCm38) missense probably damaging 1.00
R0508:Urb1 UTSW 16 90,783,262 (GRCm38) splice site probably benign
R0517:Urb1 UTSW 16 90,777,422 (GRCm38) nonsense probably null
R0704:Urb1 UTSW 16 90,776,207 (GRCm38) missense probably benign 0.31
R0755:Urb1 UTSW 16 90,779,138 (GRCm38) missense probably benign
R0755:Urb1 UTSW 16 90,774,094 (GRCm38) missense probably damaging 1.00
R0783:Urb1 UTSW 16 90,810,297 (GRCm38) missense possibly damaging 0.55
R0833:Urb1 UTSW 16 90,795,448 (GRCm38) missense possibly damaging 0.89
R0836:Urb1 UTSW 16 90,795,448 (GRCm38) missense possibly damaging 0.89
R0970:Urb1 UTSW 16 90,769,447 (GRCm38) missense possibly damaging 0.83
R1144:Urb1 UTSW 16 90,776,318 (GRCm38) splice site probably null
R1344:Urb1 UTSW 16 90,769,466 (GRCm38) missense probably damaging 1.00
R1418:Urb1 UTSW 16 90,769,466 (GRCm38) missense probably damaging 1.00
R1453:Urb1 UTSW 16 90,796,492 (GRCm38) missense probably damaging 1.00
R1470:Urb1 UTSW 16 90,752,014 (GRCm38) missense probably benign 0.34
R1470:Urb1 UTSW 16 90,752,014 (GRCm38) missense probably benign 0.34
R1520:Urb1 UTSW 16 90,774,745 (GRCm38) missense probably benign 0.00
R1521:Urb1 UTSW 16 90,753,863 (GRCm38) missense probably damaging 1.00
R1598:Urb1 UTSW 16 90,777,440 (GRCm38) missense possibly damaging 0.93
R1617:Urb1 UTSW 16 90,760,452 (GRCm38) missense possibly damaging 0.82
R1625:Urb1 UTSW 16 90,774,048 (GRCm38) critical splice donor site probably null
R1640:Urb1 UTSW 16 90,772,626 (GRCm38) missense probably benign 0.00
R1664:Urb1 UTSW 16 90,788,082 (GRCm38) critical splice donor site probably null
R1672:Urb1 UTSW 16 90,787,397 (GRCm38) missense probably damaging 1.00
R1694:Urb1 UTSW 16 90,767,040 (GRCm38) missense probably benign
R1856:Urb1 UTSW 16 90,761,695 (GRCm38) missense probably benign 0.00
R2001:Urb1 UTSW 16 90,762,344 (GRCm38) missense probably benign 0.30
R2196:Urb1 UTSW 16 90,774,256 (GRCm38) missense probably benign 0.01
R2850:Urb1 UTSW 16 90,774,256 (GRCm38) missense probably benign 0.01
R3009:Urb1 UTSW 16 90,774,798 (GRCm38) missense probably benign 0.09
R3104:Urb1 UTSW 16 90,795,443 (GRCm38) missense probably damaging 1.00
R3105:Urb1 UTSW 16 90,795,443 (GRCm38) missense probably damaging 1.00
R3106:Urb1 UTSW 16 90,795,443 (GRCm38) missense probably damaging 1.00
R3160:Urb1 UTSW 16 90,797,903 (GRCm38) missense probably damaging 1.00
R3162:Urb1 UTSW 16 90,797,903 (GRCm38) missense probably damaging 1.00
R3900:Urb1 UTSW 16 90,783,376 (GRCm38) missense possibly damaging 0.86
R4014:Urb1 UTSW 16 90,769,465 (GRCm38) missense probably damaging 1.00
R4036:Urb1 UTSW 16 90,788,086 (GRCm38) missense probably benign
R4332:Urb1 UTSW 16 90,774,537 (GRCm38) missense probably damaging 1.00
R4448:Urb1 UTSW 16 90,769,394 (GRCm38) missense possibly damaging 0.71
R4581:Urb1 UTSW 16 90,788,146 (GRCm38) missense probably benign 0.04
R4593:Urb1 UTSW 16 90,787,444 (GRCm38) missense probably damaging 1.00
R4610:Urb1 UTSW 16 90,776,271 (GRCm38) missense probably benign 0.43
R4659:Urb1 UTSW 16 90,776,129 (GRCm38) missense probably damaging 0.96
R4672:Urb1 UTSW 16 90,772,634 (GRCm38) missense probably benign
R4681:Urb1 UTSW 16 90,804,537 (GRCm38) missense probably damaging 0.99
R4771:Urb1 UTSW 16 90,753,518 (GRCm38) missense probably benign 0.00
R4790:Urb1 UTSW 16 90,769,555 (GRCm38) nonsense probably null
R4798:Urb1 UTSW 16 90,757,827 (GRCm38) missense probably benign 0.12
R4809:Urb1 UTSW 16 90,759,842 (GRCm38) missense possibly damaging 0.82
R4850:Urb1 UTSW 16 90,795,414 (GRCm38) nonsense probably null
R4916:Urb1 UTSW 16 90,783,328 (GRCm38) missense probably damaging 1.00
R4969:Urb1 UTSW 16 90,805,411 (GRCm38) missense probably damaging 1.00
R5032:Urb1 UTSW 16 90,756,171 (GRCm38) missense probably benign 0.00
R5111:Urb1 UTSW 16 90,752,017 (GRCm38) missense probably benign 0.00
R5122:Urb1 UTSW 16 90,752,095 (GRCm38) nonsense probably null
R5184:Urb1 UTSW 16 90,783,274 (GRCm38) critical splice donor site probably null
R5199:Urb1 UTSW 16 90,792,748 (GRCm38) missense possibly damaging 0.95
R5767:Urb1 UTSW 16 90,776,163 (GRCm38) missense probably benign 0.00
R5812:Urb1 UTSW 16 90,804,537 (GRCm38) missense probably damaging 0.99
R5872:Urb1 UTSW 16 90,772,764 (GRCm38) nonsense probably null
R6052:Urb1 UTSW 16 90,762,383 (GRCm38) missense probably damaging 1.00
R6063:Urb1 UTSW 16 90,789,097 (GRCm38) missense probably benign 0.02
R6065:Urb1 UTSW 16 90,803,332 (GRCm38) missense probably benign 0.03
R6181:Urb1 UTSW 16 90,779,094 (GRCm38) missense probably benign 0.00
R6268:Urb1 UTSW 16 90,753,919 (GRCm38) missense probably benign 0.03
R6429:Urb1 UTSW 16 90,762,430 (GRCm38) splice site probably null
R6572:Urb1 UTSW 16 90,787,414 (GRCm38) missense probably benign 0.37
R6606:Urb1 UTSW 16 90,810,268 (GRCm38) missense probably benign 0.00
R6730:Urb1 UTSW 16 90,779,083 (GRCm38) missense possibly damaging 0.89
R6838:Urb1 UTSW 16 90,782,106 (GRCm38) missense possibly damaging 0.93
R7237:Urb1 UTSW 16 90,791,166 (GRCm38) missense probably damaging 1.00
R7238:Urb1 UTSW 16 90,752,115 (GRCm38) missense possibly damaging 0.88
R7339:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7341:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7361:Urb1 UTSW 16 90,774,768 (GRCm38) missense probably damaging 0.99
R7365:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7366:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7440:Urb1 UTSW 16 90,787,408 (GRCm38) missense probably damaging 1.00
R7530:Urb1 UTSW 16 90,761,634 (GRCm38) missense probably damaging 1.00
R7553:Urb1 UTSW 16 90,792,864 (GRCm38) missense probably damaging 1.00
R7557:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7603:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7607:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7609:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7610:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7612:Urb1 UTSW 16 90,797,910 (GRCm38) missense probably damaging 1.00
R7613:Urb1 UTSW 16 90,772,573 (GRCm38) critical splice donor site probably benign
R7684:Urb1 UTSW 16 90,786,118 (GRCm38) nonsense probably null
R8029:Urb1 UTSW 16 90,779,152 (GRCm38) missense possibly damaging 0.67
R8324:Urb1 UTSW 16 90,791,190 (GRCm38) missense probably damaging 1.00
R8680:Urb1 UTSW 16 90,774,625 (GRCm38) missense probably benign 0.00
R8785:Urb1 UTSW 16 90,803,423 (GRCm38) missense probably benign 0.07
R8914:Urb1 UTSW 16 90,810,234 (GRCm38) missense probably damaging 1.00
R8959:Urb1 UTSW 16 90,774,117 (GRCm38) missense probably benign 0.26
R9005:Urb1 UTSW 16 90,753,790 (GRCm38) missense probably benign 0.01
R9126:Urb1 UTSW 16 90,769,402 (GRCm38) missense possibly damaging 0.53
R9195:Urb1 UTSW 16 90,792,750 (GRCm38) missense probably benign 0.03
R9276:Urb1 UTSW 16 90,772,575 (GRCm38) splice site probably benign
R9534:Urb1 UTSW 16 90,786,208 (GRCm38) missense possibly damaging 0.54
Z1177:Urb1 UTSW 16 90,774,862 (GRCm38) missense probably benign 0.05
Z1177:Urb1 UTSW 16 90,753,883 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCATGGTCTCCAATACCCTG -3'
(R):5'- ACTGTGTGTCTCTGAAAGTGAC -3'

Sequencing Primer
(F):5'- ATACCCTGTCCCTGAGCCAG -3'
(R):5'- CTCTGAAAGTGACTTCAGTGCTCAG -3'
Posted On 2016-09-01