Incidental Mutation 'IGL00485:Urb2'
ID 6198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Urb2
Ensembl Gene ENSMUSG00000031976
Gene Name URB2 ribosome biogenesis 2 homolog (S. cerevisiae)
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # IGL00485
Quality Score
Status
Chromosome 8
Chromosomal Location 124748247-124775244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124755433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 380 (I380T)
Ref Sequence ENSEMBL: ENSMUSP00000034457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034457] [ENSMUST00000127664] [ENSMUST00000173168]
AlphaFold E9Q7L1
Predicted Effect probably damaging
Transcript: ENSMUST00000034457
AA Change: I380T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: I380T

DomainStartEndE-ValueType
low complexity region 489 503 N/A INTRINSIC
low complexity region 541 546 N/A INTRINSIC
low complexity region 576 590 N/A INTRINSIC
low complexity region 887 900 N/A INTRINSIC
low complexity region 1073 1092 N/A INTRINSIC
low complexity region 1172 1188 N/A INTRINSIC
low complexity region 1273 1279 N/A INTRINSIC
Pfam:Urb2 1319 1515 2.7e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173168
AA Change: I380T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: I380T

DomainStartEndE-ValueType
low complexity region 489 503 N/A INTRINSIC
low complexity region 541 546 N/A INTRINSIC
low complexity region 576 590 N/A INTRINSIC
low complexity region 887 900 N/A INTRINSIC
low complexity region 1073 1092 N/A INTRINSIC
low complexity region 1172 1188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212460
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Urb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Urb2 APN 8 124,763,376 (GRCm39) missense probably benign 0.00
IGL02090:Urb2 APN 8 124,754,976 (GRCm39) missense probably benign 0.28
IGL02707:Urb2 APN 8 124,757,425 (GRCm39) missense probably benign 0.04
IGL03103:Urb2 APN 8 124,756,491 (GRCm39) missense probably benign 0.17
IGL03402:Urb2 APN 8 124,756,588 (GRCm39) missense possibly damaging 0.92
R0037:Urb2 UTSW 8 124,773,934 (GRCm39) missense probably damaging 1.00
R0113:Urb2 UTSW 8 124,757,665 (GRCm39) missense probably benign 0.00
R0883:Urb2 UTSW 8 124,757,709 (GRCm39) nonsense probably null
R1015:Urb2 UTSW 8 124,756,173 (GRCm39) missense probably damaging 1.00
R1265:Urb2 UTSW 8 124,751,892 (GRCm39) missense probably damaging 1.00
R1463:Urb2 UTSW 8 124,757,647 (GRCm39) missense probably benign 0.04
R1497:Urb2 UTSW 8 124,754,816 (GRCm39) missense probably damaging 1.00
R1556:Urb2 UTSW 8 124,757,356 (GRCm39) missense probably damaging 1.00
R1622:Urb2 UTSW 8 124,756,363 (GRCm39) missense probably benign
R1914:Urb2 UTSW 8 124,756,537 (GRCm39) missense possibly damaging 0.81
R1915:Urb2 UTSW 8 124,756,537 (GRCm39) missense possibly damaging 0.81
R2172:Urb2 UTSW 8 124,757,841 (GRCm39) missense probably damaging 1.00
R2240:Urb2 UTSW 8 124,756,878 (GRCm39) missense probably benign 0.02
R2424:Urb2 UTSW 8 124,757,165 (GRCm39) missense probably benign 0.02
R4085:Urb2 UTSW 8 124,757,680 (GRCm39) missense probably benign 0.02
R4119:Urb2 UTSW 8 124,773,979 (GRCm39) missense probably benign 0.00
R4732:Urb2 UTSW 8 124,755,636 (GRCm39) missense probably damaging 1.00
R4733:Urb2 UTSW 8 124,755,636 (GRCm39) missense probably damaging 1.00
R4865:Urb2 UTSW 8 124,756,374 (GRCm39) nonsense probably null
R5005:Urb2 UTSW 8 124,757,920 (GRCm39) missense probably damaging 0.97
R5381:Urb2 UTSW 8 124,756,651 (GRCm39) missense probably benign 0.02
R5704:Urb2 UTSW 8 124,764,921 (GRCm39) missense probably damaging 0.97
R5891:Urb2 UTSW 8 124,757,595 (GRCm39) missense possibly damaging 0.64
R5958:Urb2 UTSW 8 124,756,398 (GRCm39) missense probably benign 0.01
R5966:Urb2 UTSW 8 124,754,827 (GRCm39) missense probably benign 0.00
R6133:Urb2 UTSW 8 124,755,300 (GRCm39) nonsense probably null
R6136:Urb2 UTSW 8 124,756,831 (GRCm39) missense probably benign
R6341:Urb2 UTSW 8 124,757,864 (GRCm39) missense probably damaging 0.99
R6343:Urb2 UTSW 8 124,757,864 (GRCm39) missense probably damaging 0.99
R6344:Urb2 UTSW 8 124,757,864 (GRCm39) missense probably damaging 0.99
R6417:Urb2 UTSW 8 124,773,938 (GRCm39) missense probably damaging 1.00
R6420:Urb2 UTSW 8 124,773,938 (GRCm39) missense probably damaging 1.00
R6585:Urb2 UTSW 8 124,757,864 (GRCm39) missense probably damaging 0.99
R6586:Urb2 UTSW 8 124,757,864 (GRCm39) missense probably damaging 0.99
R6587:Urb2 UTSW 8 124,757,864 (GRCm39) missense probably damaging 0.99
R6588:Urb2 UTSW 8 124,757,864 (GRCm39) missense probably damaging 0.99
R7061:Urb2 UTSW 8 124,755,036 (GRCm39) missense probably benign
R7090:Urb2 UTSW 8 124,757,338 (GRCm39) missense probably benign
R7371:Urb2 UTSW 8 124,755,008 (GRCm39) missense probably benign 0.00
R7467:Urb2 UTSW 8 124,755,250 (GRCm39) missense probably benign
R7542:Urb2 UTSW 8 124,755,327 (GRCm39) missense probably benign
R7545:Urb2 UTSW 8 124,756,491 (GRCm39) missense probably benign 0.00
R7686:Urb2 UTSW 8 124,771,911 (GRCm39) missense probably benign 0.01
R8046:Urb2 UTSW 8 124,754,771 (GRCm39) missense possibly damaging 0.92
R8101:Urb2 UTSW 8 124,754,779 (GRCm39) missense probably benign 0.01
R8404:Urb2 UTSW 8 124,751,942 (GRCm39) missense probably damaging 1.00
R8879:Urb2 UTSW 8 124,755,142 (GRCm39) missense probably benign 0.27
R9141:Urb2 UTSW 8 124,755,285 (GRCm39) missense probably damaging 1.00
R9174:Urb2 UTSW 8 124,767,987 (GRCm39) missense possibly damaging 0.75
R9184:Urb2 UTSW 8 124,771,890 (GRCm39) missense probably benign 0.10
R9270:Urb2 UTSW 8 124,750,192 (GRCm39) unclassified probably benign
R9304:Urb2 UTSW 8 124,757,247 (GRCm39) missense probably benign
R9309:Urb2 UTSW 8 124,754,809 (GRCm39) missense probably damaging 1.00
R9328:Urb2 UTSW 8 124,774,034 (GRCm39) missense probably damaging 1.00
R9415:Urb2 UTSW 8 124,756,613 (GRCm39) missense possibly damaging 0.72
R9426:Urb2 UTSW 8 124,755,285 (GRCm39) missense probably damaging 1.00
R9429:Urb2 UTSW 8 124,750,226 (GRCm39) nonsense probably null
R9741:Urb2 UTSW 8 124,755,751 (GRCm39) missense probably damaging 0.99
X0020:Urb2 UTSW 8 124,757,722 (GRCm39) missense possibly damaging 0.91
X0027:Urb2 UTSW 8 124,755,553 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20