Incidental Mutation 'R1672:Urb1'
ID 187754
Institutional Source Beutler Lab
Gene Symbol Urb1
Ensembl Gene ENSMUSG00000039929
Gene Name URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Synonyms 5730405K23Rik, 4921511H13Rik
MMRRC Submission 039708-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1672 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 90548415-90607301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90584285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 566 (C566S)
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: C566S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: C566S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik G A 16: 88,424,096 (GRCm39) Q132* probably null Het
Aadacl4 T A 4: 144,349,889 (GRCm39) L382* probably null Het
Afg3l2 A G 18: 67,540,493 (GRCm39) I672T probably benign Het
Aftph A T 11: 20,676,762 (GRCm39) D282E probably benign Het
Agpat5 A G 8: 18,920,930 (GRCm39) N161S probably benign Het
Alpk2 C T 18: 65,414,030 (GRCm39) E1562K probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apobr A G 7: 126,186,723 (GRCm39) R745G probably benign Het
Arrdc5 T C 17: 56,607,144 (GRCm39) T34A possibly damaging Het
Astl T C 2: 127,189,163 (GRCm39) L163P probably damaging Het
Atf7ip2 A T 16: 10,027,005 (GRCm39) H91L probably damaging Het
Atp13a3 A T 16: 30,151,092 (GRCm39) S1073T possibly damaging Het
Bcl2a1a A T 9: 88,839,503 (GRCm39) I134L probably damaging Het
Brinp1 T C 4: 68,747,520 (GRCm39) probably null Het
Capn9 A G 8: 125,340,570 (GRCm39) N578S probably benign Het
Casp2 T A 6: 42,245,842 (GRCm39) D166E probably damaging Het
Ccr1l1 A T 9: 123,777,544 (GRCm39) I301N probably damaging Het
Chtop T A 3: 90,414,874 (GRCm39) T15S probably damaging Het
Coq5 T A 5: 115,417,975 (GRCm39) probably null Het
Crbn G A 6: 106,772,886 (GRCm39) P34L probably damaging Het
Crisp1 G T 17: 40,619,760 (GRCm39) D59E possibly damaging Het
Cyp4f14 A T 17: 33,128,210 (GRCm39) D268E probably benign Het
D5Ertd579e T C 5: 36,770,621 (GRCm39) D1258G possibly damaging Het
Dcp1b T C 6: 119,194,872 (GRCm39) S531P probably benign Het
Defb25 T C 2: 152,464,410 (GRCm39) M45V probably benign Het
Dffa T C 4: 149,190,702 (GRCm39) L77P probably damaging Het
Dixdc1 T C 9: 50,601,164 (GRCm39) Q361R probably damaging Het
Dnah1 A G 14: 30,998,157 (GRCm39) L2560P probably damaging Het
Fabp5 A G 3: 10,080,601 (GRCm39) T108A probably benign Het
Fam149a T G 8: 45,792,411 (GRCm39) probably null Het
Fam20c A G 5: 138,793,056 (GRCm39) Y430C probably damaging Het
Fat1 A G 8: 45,489,872 (GRCm39) T3595A probably damaging Het
Fbp1 A G 13: 63,015,245 (GRCm39) Y245H probably damaging Het
Frem1 C T 4: 82,917,128 (GRCm39) R605H probably benign Het
Fscb A G 12: 64,518,292 (GRCm39) I1058T unknown Het
Fyb2 A G 4: 104,808,059 (GRCm39) K373R probably benign Het
Ggta1 A T 2: 35,292,145 (GRCm39) Y387* probably null Het
Gm18856 T C 13: 14,140,342 (GRCm39) probably benign Het
Gm572 T C 4: 148,752,966 (GRCm39) S282P possibly damaging Het
Gpd2 A T 2: 57,247,712 (GRCm39) I552F probably damaging Het
Grk5 T C 19: 61,074,653 (GRCm39) probably null Het
Hivep1 T C 13: 42,313,760 (GRCm39) V2000A probably damaging Het
Ipo5 C T 14: 121,170,714 (GRCm39) L466F probably damaging Het
Itgb1 G A 8: 129,458,526 (GRCm39) S785N probably damaging Het
Itpr3 G A 17: 27,307,987 (GRCm39) R258K probably benign Het
Kcnk12 A G 17: 88,053,747 (GRCm39) V305A probably benign Het
Klf5 C T 14: 99,538,986 (GRCm39) T133I probably damaging Het
Lrig2 A G 3: 104,399,128 (GRCm39) I178T probably damaging Het
Lyrm4 A T 13: 36,276,907 (GRCm39) M30K probably benign Het
Mpv17 A G 5: 31,311,063 (GRCm39) Y7H probably damaging Het
Mrps22 T C 9: 98,478,869 (GRCm39) probably null Het
Myof A T 19: 37,931,927 (GRCm39) W967R probably damaging Het
Naip1 C T 13: 100,559,657 (GRCm39) D1116N probably benign Het
Or1e33 T C 11: 73,738,781 (GRCm39) T57A probably benign Het
Or6c66b C A 10: 129,376,561 (GRCm39) H52N probably benign Het
Or8g50 G A 9: 39,648,492 (GRCm39) C127Y probably damaging Het
Or9k2b T C 10: 130,016,261 (GRCm39) T163A probably benign Het
Ovol2 T C 2: 144,147,710 (GRCm39) Y180C probably damaging Het
Pacs1 T C 19: 5,202,337 (GRCm39) S418G probably benign Het
Pcdh1 T C 18: 38,325,233 (GRCm39) E903G probably damaging Het
Pcdhb15 A T 18: 37,607,713 (GRCm39) Y315F probably damaging Het
Pex1 T C 5: 3,676,085 (GRCm39) L891P probably damaging Het
Potefam1 T A 2: 111,051,119 (GRCm39) M226L probably benign Het
Ppfia2 G A 10: 106,666,429 (GRCm39) M378I possibly damaging Het
Ppp1r9a T A 6: 5,143,491 (GRCm39) probably null Het
Prm3 T C 16: 10,608,563 (GRCm39) E64G possibly damaging Het
Prmt6 T C 3: 110,157,887 (GRCm39) D134G possibly damaging Het
Prss42 G A 9: 110,629,996 (GRCm39) G250D probably damaging Het
Pwwp2b G A 7: 138,834,747 (GRCm39) V63I probably benign Het
Rbm17 T C 2: 11,590,530 (GRCm39) D375G possibly damaging Het
Rhbdl1 A T 17: 26,055,383 (GRCm39) probably null Het
Rims2 T A 15: 39,155,584 (GRCm39) D128E probably benign Het
Rock2 A G 12: 17,015,653 (GRCm39) K850R probably benign Het
Rreb1 T C 13: 38,114,513 (GRCm39) I624T probably benign Het
Rrp36 A T 17: 46,983,340 (GRCm39) D91E probably damaging Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Sec24a A T 11: 51,634,775 (GRCm39) Y50* probably null Het
Sh2d4b A G 14: 40,614,921 (GRCm39) M1T probably null Het
Slc4a7 A G 14: 14,760,247 (GRCm38) I561V possibly damaging Het
Slc7a12 T C 3: 14,564,337 (GRCm39) V70A possibly damaging Het
Slfnl1 A T 4: 120,392,972 (GRCm39) I355F probably damaging Het
Spata2 C T 2: 167,325,439 (GRCm39) R460H probably damaging Het
Stk11ip C T 1: 75,505,629 (GRCm39) Q433* probably null Het
Susd1 T C 4: 59,411,395 (GRCm39) Y146C probably damaging Het
Susd5 A T 9: 113,897,890 (GRCm39) D115V probably damaging Het
Tas2r110 T A 6: 132,845,029 (GRCm39) V20E probably damaging Het
Tbc1d4 T C 14: 101,712,651 (GRCm39) Y694C possibly damaging Het
Tmem131 T C 1: 36,863,840 (GRCm39) E640G probably damaging Het
Togaram1 A G 12: 65,068,342 (GRCm39) T1782A probably benign Het
Trim24 T C 6: 37,892,214 (GRCm39) L249P probably damaging Het
Ttf1 T C 2: 28,957,164 (GRCm39) I478T probably damaging Het
Upf2 T A 2: 6,044,908 (GRCm39) probably null Het
Vmn1r191 T C 13: 22,363,262 (GRCm39) N164S probably benign Het
Vmn2r81 T A 10: 79,104,112 (GRCm39) V245E probably damaging Het
Vwce T A 19: 10,630,459 (GRCm39) F506Y possibly damaging Het
Wnt8b T C 19: 44,499,715 (GRCm39) F155L probably damaging Het
Xrra1 A T 7: 99,547,647 (GRCm39) I279F probably benign Het
Zfp229 T C 17: 21,964,828 (GRCm39) S353P probably damaging Het
Zfp607b C T 7: 27,391,948 (GRCm39) H8Y possibly damaging Het
Zfp933 A T 4: 147,910,476 (GRCm39) H373Q probably damaging Het
Zfp938 A G 10: 82,060,982 (GRCm39) L546P probably benign Het
Zfp988 C T 4: 147,415,739 (GRCm39) R58C probably benign Het
Zkscan14 C T 5: 145,138,464 (GRCm39) V8I probably benign 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
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'- TCACATCTGCTGATAAACTGCCCAC -3'
(R):5'- AGGCTTAAGACCAGTCCCTGGAAC -3'

Sequencing Primer
(F):5'- TGCTGATAAACTGCCCACACTAC -3'
(R):5'- TGGAACAGTATCCACCCTGTTAG -3'
Posted On 2014-05-09