Incidental Mutation 'IGL01871:H2-Ob'
ID 178721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Ob
Ensembl Gene ENSMUSG00000041538
Gene Name histocompatibility 2, O region beta locus
Synonyms Ob, H-2Ob, H2-Ab, A-beta2, A-beta-2, H-2I, H2-IAb2, H2-Ab2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01871
Quality Score
Status
Chromosome 17
Chromosomal Location 34238903-34245907 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34242545 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 86 (W86L)
Ref Sequence ENSEMBL: ENSMUSP00000133906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095342] [ENSMUST00000167280] [ENSMUST00000173764]
AlphaFold A0A494BB12
Predicted Effect probably damaging
Transcript: ENSMUST00000095342
AA Change: W157L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: W157L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
MHC_II_beta 39 113 8.17e-34 SMART
IGc1 138 209 2.24e-24 SMART
transmembrane domain 225 247 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167280
AA Change: W131L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: W131L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
MHC_II_beta 39 113 8.17e-34 SMART
IGc1 120 183 4.55e-16 SMART
transmembrane domain 199 221 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173681
Predicted Effect probably damaging
Transcript: ENSMUST00000173764
AA Change: W86L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: W86L

DomainStartEndE-ValueType
Pfam:MHC_II_beta 1 42 8e-12 PFAM
IGc1 67 138 2.24e-24 SMART
transmembrane domain 154 176 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,472,394 probably null Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Asxl2 G T 12: 3,502,112 V1285L probably benign Het
Bdp1 A T 13: 100,066,053 S688T probably benign Het
Cc2d2a A T 5: 43,688,969 I357F probably damaging Het
Clasp1 A T 1: 118,570,889 I884F probably damaging Het
Cpne4 T G 9: 104,925,757 M200R possibly damaging Het
Cyp2d10 T A 15: 82,403,885 D180V probably damaging Het
Dicer1 A T 12: 104,704,180 V1042D probably damaging Het
Dlc1 G A 8: 36,850,180 T447I probably damaging Het
Efl1 T C 7: 82,763,319 M972T possibly damaging Het
Erbin A G 13: 103,834,766 S781P probably damaging Het
Fam46b A G 4: 133,486,309 I164V possibly damaging Het
Galnt4 G A 10: 99,109,241 G276D probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gmppa A G 1: 75,437,017 I41V probably damaging Het
Golga1 C T 2: 39,050,198 probably benign Het
Hnrnpr G A 4: 136,339,574 R482H unknown Het
L2hgdh T C 12: 69,722,095 E81G probably damaging Het
Mre11a T C 9: 14,811,897 V389A possibly damaging Het
Mxra8 A G 4: 155,842,801 T372A probably benign Het
Ncapg T A 5: 45,688,581 S593R probably benign Het
Ndufaf1 C T 2: 119,658,287 W250* probably null Het
Neb T C 2: 52,153,069 E6783G probably damaging Het
Nmt2 T C 2: 3,312,674 Y175H probably damaging Het
Olfml2b T C 1: 170,662,355 probably benign Het
Pitpnm3 T A 11: 72,056,138 M812L probably damaging Het
Pou2f3 A G 9: 43,134,473 probably benign Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Rapgef4 A G 2: 72,198,360 T392A possibly damaging Het
Rhov G T 2: 119,270,738 Q71K probably benign Het
Slc22a15 T C 3: 101,860,794 probably benign Het
Spaca1 T A 4: 34,040,894 N22Y probably damaging Het
Stmnd1 A G 13: 46,289,713 E107G probably damaging Het
Timm22 T C 11: 76,407,437 V78A probably damaging Het
Usp47 T C 7: 112,077,786 probably benign Het
Utp4 A C 8: 106,912,317 K419T probably benign Het
Zfp410 T C 12: 84,325,791 probably null Het
Other mutations in H2-Ob
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03247:H2-Ob APN 17 34243492 missense probably benign
Deciduous UTSW 17 34243886 critical splice acceptor site probably null
K3955:H2-Ob UTSW 17 34241184 missense probably damaging 1.00
R0466:H2-Ob UTSW 17 34242659 missense probably damaging 0.99
R0791:H2-Ob UTSW 17 34242614 missense probably damaging 1.00
R0792:H2-Ob UTSW 17 34242614 missense probably damaging 1.00
R0812:H2-Ob UTSW 17 34244126 utr 3 prime probably benign
R2145:H2-Ob UTSW 17 34242580 missense probably benign 0.00
R4677:H2-Ob UTSW 17 34242644 missense probably benign 0.01
R4741:H2-Ob UTSW 17 34242571 missense possibly damaging 0.73
R5011:H2-Ob UTSW 17 34241279 critical splice donor site probably null
R5084:H2-Ob UTSW 17 34241128 missense probably damaging 1.00
R5135:H2-Ob UTSW 17 34243516 missense probably benign 0.20
R5497:H2-Ob UTSW 17 34241170 missense probably benign 0.42
R6034:H2-Ob UTSW 17 34241218 missense probably damaging 1.00
R6034:H2-Ob UTSW 17 34241218 missense probably damaging 1.00
R6272:H2-Ob UTSW 17 34242644 missense probably benign 0.01
R6433:H2-Ob UTSW 17 34243886 critical splice acceptor site probably null
R6794:H2-Ob UTSW 17 34241188 missense possibly damaging 0.96
R7220:H2-Ob UTSW 17 34241260 missense probably damaging 1.00
R8996:H2-Ob UTSW 17 34243557 missense probably damaging 0.97
R9484:H2-Ob UTSW 17 34241015 missense probably damaging 1.00
Posted On 2014-05-07