Incidental Mutation 'IGL02133:H2-M9'
ID 281059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M9
Ensembl Gene ENSMUSG00000067201
Gene Name histocompatibility 2, M region locus 9
Synonyms M9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02133
Quality Score
Status
Chromosome 17
Chromosomal Location 36950177-36953558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36952629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 139 (E139G)
Ref Sequence ENSEMBL: ENSMUSP00000084409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087165] [ENSMUST00000087167]
AlphaFold O19442
Predicted Effect possibly damaging
Transcript: ENSMUST00000087165
AA Change: E139G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084409
Gene: ENSMUSG00000067201
AA Change: E139G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 25 203 2.4e-45 PFAM
transmembrane domain 216 238 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000087167
AA Change: E139G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
AA Change: E139G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 25 203 5.3e-44 PFAM
IGc1 222 293 5.73e-22 SMART
transmembrane domain 308 330 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik G T 11: 52,294,337 (GRCm39) A193S probably damaging Het
Adam4 A G 12: 81,466,803 (GRCm39) V606A probably benign Het
Atp2c2 A G 8: 120,481,074 (GRCm39) I821V probably benign Het
Bmi1 A T 2: 18,688,488 (GRCm39) R160W probably damaging Het
Ccdc198 T A 14: 49,470,424 (GRCm39) Q165L probably benign Het
Ccdc88c G A 12: 100,906,349 (GRCm39) R1062C probably damaging Het
Cntnap3 A T 13: 64,899,487 (GRCm39) probably benign Het
Col20a1 C T 2: 180,648,937 (GRCm39) T940I probably damaging Het
Csmd3 A C 15: 47,721,338 (GRCm39) M1535R possibly damaging Het
Dhx38 C A 8: 110,284,873 (GRCm39) E487* probably null Het
Fam186b A G 15: 99,171,584 (GRCm39) S888P probably damaging Het
Fancm G A 12: 65,153,249 (GRCm39) G1235D probably benign Het
Grin3a C T 4: 49,792,946 (GRCm39) W262* probably null Het
Gtdc1 A T 2: 44,465,455 (GRCm39) M305K probably damaging Het
Haus1 A T 18: 77,854,611 (GRCm39) L53Q probably damaging Het
Hgfac A G 5: 35,203,931 (GRCm39) Y483C probably damaging Het
Hipk2 C T 6: 38,796,069 (GRCm39) V67I probably benign Het
Kbtbd8 T C 6: 95,098,713 (GRCm39) probably benign Het
Kndc1 A G 7: 139,500,683 (GRCm39) T683A probably benign Het
Ldhb A T 6: 142,438,226 (GRCm39) M277K probably benign Het
Mgam T C 6: 40,620,010 (GRCm39) L33P probably damaging Het
Ndst1 A G 18: 60,832,618 (GRCm39) F571L probably benign Het
Neb G T 2: 52,102,816 (GRCm39) probably null Het
Nrxn1 A G 17: 90,950,671 (GRCm39) S503P probably damaging Het
Paqr3 A G 5: 97,243,790 (GRCm39) V308A probably benign Het
Scnn1g T C 7: 121,342,922 (GRCm39) F292L probably damaging Het
Stk3 A G 15: 35,099,662 (GRCm39) F88S probably damaging Het
Tcaf2 T A 6: 42,604,330 (GRCm39) E683V probably benign Het
Tprkb T C 6: 85,904,893 (GRCm39) V123A probably benign Het
Ush2a T C 1: 188,175,540 (GRCm39) Y1213H probably damaging Het
Vwa5b1 A G 4: 138,313,868 (GRCm39) probably null Het
Wls A G 3: 159,603,007 (GRCm39) Y140C probably damaging Het
Zan A G 5: 137,409,760 (GRCm39) S28P possibly damaging Het
Other mutations in H2-M9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01808:H2-M9 APN 17 36,952,711 (GRCm39) splice site probably null
IGL02323:H2-M9 APN 17 36,951,633 (GRCm39) missense probably damaging 1.00
IGL02957:H2-M9 APN 17 36,953,049 (GRCm39) missense probably benign 0.00
IGL03127:H2-M9 APN 17 36,951,714 (GRCm39) missense possibly damaging 0.48
R0025:H2-M9 UTSW 17 36,952,647 (GRCm39) missense probably damaging 1.00
R0026:H2-M9 UTSW 17 36,952,419 (GRCm39) splice site probably benign
R0926:H2-M9 UTSW 17 36,952,665 (GRCm39) missense probably damaging 0.98
R1171:H2-M9 UTSW 17 36,952,545 (GRCm39) missense probably benign 0.14
R1264:H2-M9 UTSW 17 36,953,484 (GRCm39) missense probably benign
R1995:H2-M9 UTSW 17 36,952,678 (GRCm39) missense probably damaging 1.00
R4622:H2-M9 UTSW 17 36,952,716 (GRCm39) splice site probably null
R4737:H2-M9 UTSW 17 36,951,631 (GRCm39) nonsense probably null
R4808:H2-M9 UTSW 17 36,951,684 (GRCm39) missense probably damaging 0.99
R5176:H2-M9 UTSW 17 36,952,523 (GRCm39) missense probably damaging 0.98
R6756:H2-M9 UTSW 17 36,953,227 (GRCm39) missense probably damaging 1.00
R6785:H2-M9 UTSW 17 36,953,125 (GRCm39) missense probably damaging 0.99
R7216:H2-M9 UTSW 17 36,951,594 (GRCm39) missense probably benign
R7464:H2-M9 UTSW 17 36,953,303 (GRCm39) splice site probably null
R8079:H2-M9 UTSW 17 36,953,025 (GRCm39) missense probably benign 0.39
R8688:H2-M9 UTSW 17 36,953,034 (GRCm39) missense probably damaging 1.00
R9174:H2-M9 UTSW 17 36,953,181 (GRCm39) missense probably damaging 0.99
X0018:H2-M9 UTSW 17 36,952,614 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16