Incidental Mutation 'IGL01011:Ubap2'
ID53517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubap2
Ensembl Gene ENSMUSG00000028433
Gene Nameubiquitin-associated protein 2
Synonyms1190005K07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL01011
Quality Score
Status
Chromosome4
Chromosomal Location41194313-41275144 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 41195328 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030143] [ENSMUST00000040008] [ENSMUST00000108068]
Predicted Effect probably benign
Transcript: ENSMUST00000030143
SMART Domains Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433

DomainStartEndE-ValueType
UBA 53 91 9.62e-8 SMART
low complexity region 115 127 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
low complexity region 166 185 N/A INTRINSIC
low complexity region 256 266 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
low complexity region 436 448 N/A INTRINSIC
Pfam:DUF3697 512 544 1.5e-18 PFAM
low complexity region 583 618 N/A INTRINSIC
low complexity region 631 644 N/A INTRINSIC
low complexity region 696 722 N/A INTRINSIC
low complexity region 744 768 N/A INTRINSIC
low complexity region 787 800 N/A INTRINSIC
low complexity region 888 914 N/A INTRINSIC
low complexity region 1007 1024 N/A INTRINSIC
low complexity region 1057 1078 N/A INTRINSIC
low complexity region 1084 1098 N/A INTRINSIC
low complexity region 1101 1115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040008
SMART Domains Protein: ENSMUSP00000038813
Gene: ENSMUSG00000036241

DomainStartEndE-ValueType
UBCc 11 174 1.55e-65 SMART
low complexity region 204 232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108068
SMART Domains Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433

DomainStartEndE-ValueType
UBA 52 90 9.62e-8 SMART
low complexity region 114 126 N/A INTRINSIC
low complexity region 129 143 N/A INTRINSIC
low complexity region 165 184 N/A INTRINSIC
low complexity region 255 265 N/A INTRINSIC
low complexity region 340 357 N/A INTRINSIC
low complexity region 435 447 N/A INTRINSIC
Pfam:DUF3697 511 543 1.2e-20 PFAM
low complexity region 582 617 N/A INTRINSIC
low complexity region 630 643 N/A INTRINSIC
low complexity region 695 721 N/A INTRINSIC
low complexity region 743 767 N/A INTRINSIC
low complexity region 786 799 N/A INTRINSIC
low complexity region 887 913 N/A INTRINSIC
low complexity region 1006 1023 N/A INTRINSIC
low complexity region 1056 1077 N/A INTRINSIC
low complexity region 1083 1097 N/A INTRINSIC
low complexity region 1100 1114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129874
Predicted Effect silent
Transcript: ENSMUST00000136057
SMART Domains Protein: ENSMUSP00000120205
Gene: ENSMUSG00000028433

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
low complexity region 49 70 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
low complexity region 117 136 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143552
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,258,246 C282S probably damaging Het
Abca12 T C 1: 71,263,632 I2143V probably benign Het
Adgrg6 A C 10: 14,409,798 I1148S probably damaging Het
Aox4 C T 1: 58,240,775 R517* probably null Het
Arnt2 T A 7: 84,285,829 D289V probably benign Het
Atad2b A G 12: 4,965,984 N570S probably benign Het
Aven G A 2: 112,629,785 D208N possibly damaging Het
Bcl9l A G 9: 44,505,179 D183G possibly damaging Het
Cd300lf A G 11: 115,124,333 S144P probably benign Het
Chd8 C A 14: 52,231,532 G543V possibly damaging Het
Chrm2 A G 6: 36,524,438 N410S probably benign Het
Clip4 A G 17: 71,849,939 I590V probably benign Het
Cnbp C T 6: 87,845,700 R27H probably benign Het
Col4a3 T C 1: 82,682,301 V889A unknown Het
Cxcl5 T C 5: 90,760,523 probably benign Het
Dennd6a G T 14: 26,603,054 V171F probably damaging Het
Dhx38 T C 8: 109,562,691 I26V probably benign Het
Dscaml1 A G 9: 45,683,672 D691G possibly damaging Het
Etfdh A T 3: 79,612,061 probably benign Het
Fbn2 G A 18: 58,095,240 probably benign Het
Foxp2 T A 6: 15,438,019 *715R probably null Het
Ftl1 A T 7: 45,458,646 D65E probably benign Het
Galm A G 17: 80,183,280 T289A probably benign Het
Gm20721 A G 2: 174,345,738 D1049G probably damaging Het
Gm28778 T C 1: 53,299,118 V47A probably benign Het
Gm5414 T C 15: 101,628,134 S19G probably benign Het
Hdac7 T A 15: 97,793,935 E835D possibly damaging Het
Hist1h1t C T 13: 23,696,049 L62F probably damaging Het
Hspg2 C T 4: 137,559,335 T3663I probably damaging Het
Kdm4d A T 9: 14,464,219 D114E probably benign Het
Kif5a A T 10: 127,239,196 V516E probably benign Het
Lrrtm1 A G 6: 77,244,235 probably null Het
Miga1 G T 3: 152,276,690 T519K probably benign Het
Mtfr1l G A 4: 134,529,200 P182S probably damaging Het
Myo15 A G 11: 60,476,992 I193V probably benign Het
Myo1e T C 9: 70,316,589 probably benign Het
Olfr190 T A 16: 59,074,430 T217S probably benign Het
Olfr376 A T 11: 73,375,007 Q86L probably benign Het
Olfr541 A T 7: 140,704,437 Y62F probably damaging Het
Pias1 T C 9: 62,912,855 T277A probably benign Het
Slamf6 T A 1: 171,938,099 H263Q probably benign Het
Snrnp48 A G 13: 38,220,764 D202G probably damaging Het
Snx13 T A 12: 35,098,280 D269E probably damaging Het
Tiam2 A T 17: 3,415,028 D344V probably benign Het
Tmem62 G T 2: 120,979,219 K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,560,035 T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,047,584 T39M possibly damaging Het
Trio T C 15: 27,736,489 D2794G probably damaging Het
Trpc7 C T 13: 56,804,540 G551D probably damaging Het
Ttc37 G A 13: 76,122,665 C127Y probably damaging Het
Ttn A G 2: 76,814,290 V11294A possibly damaging Het
Ubap2l G A 3: 90,009,256 Q915* probably null Het
Ubfd1 A G 7: 122,078,472 E340G probably benign Het
Vil1 T C 1: 74,434,887 probably null Het
Vmn1r6 T G 6: 57,002,544 L42V probably benign Het
Vps13c A G 9: 67,926,955 T1635A probably damaging Het
Zfhx3 T A 8: 108,793,594 H449Q probably benign Het
Zfp750 A T 11: 121,513,096 S318T probably benign Het
Other mutations in Ubap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Ubap2 APN 4 41195155 missense probably damaging 1.00
IGL01354:Ubap2 APN 4 41207005 missense probably damaging 1.00
IGL01563:Ubap2 APN 4 41195998 missense probably damaging 0.96
IGL01602:Ubap2 APN 4 41227237 missense probably damaging 1.00
IGL01605:Ubap2 APN 4 41227237 missense probably damaging 1.00
IGL01688:Ubap2 APN 4 41226308 missense probably benign
IGL01733:Ubap2 APN 4 41195862 unclassified probably benign
IGL01896:Ubap2 APN 4 41202362 missense possibly damaging 0.85
IGL01942:Ubap2 APN 4 41251608 missense probably benign 0.00
IGL02095:Ubap2 APN 4 41229709 missense probably benign
R0608:Ubap2 UTSW 4 41218319 missense probably benign 0.10
R0938:Ubap2 UTSW 4 41202304 missense probably damaging 1.00
R1449:Ubap2 UTSW 4 41209351 critical splice donor site probably null
R1484:Ubap2 UTSW 4 41235593 missense probably damaging 1.00
R1548:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R1549:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R1604:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R1607:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R1739:Ubap2 UTSW 4 41206849 missense probably benign 0.00
R1772:Ubap2 UTSW 4 41202380 missense probably benign 0.02
R1862:Ubap2 UTSW 4 41221607 missense probably benign
R1869:Ubap2 UTSW 4 41233617 missense probably damaging 1.00
R1886:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R1887:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R2063:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R2064:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R2065:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R2066:Ubap2 UTSW 4 41199872 missense probably benign 0.12
R2095:Ubap2 UTSW 4 41206901 missense possibly damaging 0.68
R2214:Ubap2 UTSW 4 41199714 critical splice donor site probably null
R2215:Ubap2 UTSW 4 41196483 unclassified probably null
R2318:Ubap2 UTSW 4 41251542 missense probably damaging 0.99
R3755:Ubap2 UTSW 4 41195482 missense probably damaging 1.00
R4620:Ubap2 UTSW 4 41233698 missense probably damaging 1.00
R4717:Ubap2 UTSW 4 41218333 missense possibly damaging 0.93
R4756:Ubap2 UTSW 4 41211771 missense probably damaging 1.00
R4942:Ubap2 UTSW 4 41245461 intron probably benign
R5344:Ubap2 UTSW 4 41251578 missense possibly damaging 0.46
R5763:Ubap2 UTSW 4 41195809 missense probably damaging 1.00
R5851:Ubap2 UTSW 4 41206268 nonsense probably null
R5951:Ubap2 UTSW 4 41205753 unclassified probably null
R6178:Ubap2 UTSW 4 41206981 missense probably benign
R6489:Ubap2 UTSW 4 41203574 critical splice acceptor site probably null
R6520:Ubap2 UTSW 4 41195155 missense probably damaging 1.00
R6652:Ubap2 UTSW 4 41196743 missense possibly damaging 0.68
R6702:Ubap2 UTSW 4 41227210 small insertion probably benign
R6736:Ubap2 UTSW 4 41227210 small insertion probably benign
R6736:Ubap2 UTSW 4 41227224 small insertion probably benign
R6860:Ubap2 UTSW 4 41233631 missense probably damaging 1.00
R7007:Ubap2 UTSW 4 41206221 missense probably damaging 0.97
R7048:Ubap2 UTSW 4 41196033 missense possibly damaging 0.49
R7121:Ubap2 UTSW 4 41205550 missense probably benign 0.00
R7371:Ubap2 UTSW 4 41195779 missense probably benign 0.16
R7378:Ubap2 UTSW 4 41235515 critical splice donor site probably null
R7695:Ubap2 UTSW 4 41211740 missense probably damaging 0.98
R7811:Ubap2 UTSW 4 41211710 missense probably benign 0.22
R7828:Ubap2 UTSW 4 41221615 missense probably benign 0.00
R7838:Ubap2 UTSW 4 41233655 missense probably damaging 1.00
R8016:Ubap2 UTSW 4 41195201 missense possibly damaging 0.91
X0061:Ubap2 UTSW 4 41196507 missense probably damaging 1.00
Posted On2013-06-28