Incidental Mutation 'IGL01562:H2-M10.5'
ID90863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.5
Ensembl Gene ENSMUSG00000037246
Gene Namehistocompatibility 2, M region locus 10.5
Synonyms6.9H
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01562
Quality Score
Status
Chromosome17
Chromosomal Location36772910-36776234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36773776 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 131 (S131G)
Ref Sequence ENSEMBL: ENSMUSP00000047766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041531]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041531
AA Change: S131G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047766
Gene: ENSMUSG00000037246
AA Change: S131G

DomainStartEndE-ValueType
Pfam:MHC_I 24 202 8.6e-44 PFAM
IGc1 221 292 5.56e-20 SMART
transmembrane domain 305 327 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crym A G 7: 120,195,399 V199A probably damaging Het
Dsel T C 1: 111,860,319 T829A probably benign Het
Frg1 T C 8: 41,416,909 K18R possibly damaging Het
Ift172 A T 5: 31,267,247 I701N probably damaging Het
Il5ra T C 6: 106,731,904 I292V probably benign Het
Nup98 A G 7: 102,185,918 S243P probably damaging Het
Pramef25 A G 4: 143,950,865 L48S probably damaging Het
Ptgis T C 2: 167,206,830 Y422C probably damaging Het
Senp2 T C 16: 22,009,687 C16R probably damaging Het
St7 T A 6: 17,922,035 L411Q probably damaging Het
Tanc2 A T 11: 105,780,069 Y164F probably benign Het
Ttc23l T C 15: 10,551,390 probably benign Het
Vmn2r66 G T 7: 85,007,287 Q174K probably benign Het
Wrap73 A G 4: 154,145,337 E55G possibly damaging Het
Other mutations in H2-M10.5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:H2-M10.5 APN 17 36773335 missense possibly damaging 0.86
IGL01878:H2-M10.5 APN 17 36773816 missense probably damaging 1.00
IGL03271:H2-M10.5 APN 17 36773351 missense possibly damaging 0.86
IGL03377:H2-M10.5 APN 17 36773485 missense probably benign 0.11
R0555:H2-M10.5 UTSW 17 36774728 missense probably damaging 1.00
R1556:H2-M10.5 UTSW 17 36773313 missense probably damaging 1.00
R1815:H2-M10.5 UTSW 17 36773944 missense probably damaging 1.00
R1913:H2-M10.5 UTSW 17 36774768 missense probably damaging 1.00
R2420:H2-M10.5 UTSW 17 36774999 missense probably benign 0.23
R2421:H2-M10.5 UTSW 17 36774999 missense probably benign 0.23
R2422:H2-M10.5 UTSW 17 36774999 missense probably benign 0.23
R5668:H2-M10.5 UTSW 17 36774581 missense probably damaging 0.99
R7694:H2-M10.5 UTSW 17 36773749 missense probably damaging 1.00
R8390:H2-M10.5 UTSW 17 36774595 missense probably benign 0.10
R8441:H2-M10.5 UTSW 17 36773307 missense probably benign 0.14
Posted On2013-12-09