Incidental Mutation 'IGL01683:H2-M2'
ID 103854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M2
Ensembl Gene ENSMUSG00000016283
Gene Name histocompatibility 2, M region locus 2
Synonyms Thy19.4, H-2M2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL01683
Quality Score
Status
Chromosome 17
Chromosomal Location 37480851-37483552 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37481515 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 288 (H288Q)
Ref Sequence ENSEMBL: ENSMUSP00000131297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016427] [ENSMUST00000171139]
AlphaFold Q6W9L1
Predicted Effect possibly damaging
Transcript: ENSMUST00000016427
AA Change: H288Q

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: H288Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:MHC_I 29 207 1.6e-77 PFAM
IGc1 226 297 2.11e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171139
AA Change: H288Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: H288Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:MHC_I 29 207 7.1e-76 PFAM
IGc1 226 297 2.11e-20 SMART
transmembrane domain 308 330 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,396,424 L188Q probably damaging Het
Abcc8 T A 7: 46,151,667 I446F possibly damaging Het
Ankrd34c T C 9: 89,729,797 T164A probably benign Het
Bsn C A 9: 108,114,896 R1219L possibly damaging Het
Cdk2ap1 C T 5: 124,350,179 probably benign Het
Ces2f T C 8: 104,953,101 F409L probably benign Het
Clcc1 G A 3: 108,676,796 A499T probably benign Het
Foxm1 T G 6: 128,373,488 I584S probably benign Het
Ftcd T C 10: 76,580,129 I199T probably damaging Het
Gjb6 C A 14: 57,124,358 A149S probably benign Het
Os9 A G 10: 127,100,103 Y258H probably damaging Het
Phldb3 T C 7: 24,619,437 F337S possibly damaging Het
Pla2g4a T G 1: 149,857,654 Y448S probably benign Het
Sgk3 T A 1: 9,881,866 V239D probably damaging Het
Ssfa2 T C 2: 79,670,725 probably benign Het
Tek T C 4: 94,858,911 Y903H probably damaging Het
Tenm4 C A 7: 96,885,404 H1752Q possibly damaging Het
Tns1 C T 1: 73,953,269 R750Q probably damaging Het
Tubb2a A T 13: 34,076,547 probably null Het
Zfp106 T C 2: 120,524,555 N1245S probably benign Het
Other mutations in H2-M2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Lock UTSW 17 37481508 missense probably damaging 1.00
Nokia UTSW 17 37481306 missense possibly damaging 0.59
R0799:H2-M2 UTSW 17 37482749 missense probably damaging 1.00
R0981:H2-M2 UTSW 17 37482630 missense probably benign 0.02
R1925:H2-M2 UTSW 17 37482500 missense probably damaging 0.98
R2959:H2-M2 UTSW 17 37483454 missense probably benign 0.20
R3968:H2-M2 UTSW 17 37481306 missense possibly damaging 0.59
R4063:H2-M2 UTSW 17 37481508 missense probably damaging 1.00
R4735:H2-M2 UTSW 17 37483244 missense possibly damaging 0.91
R5806:H2-M2 UTSW 17 37481726 missense probably damaging 1.00
R6410:H2-M2 UTSW 17 37483213 missense probably damaging 1.00
R7432:H2-M2 UTSW 17 37481470 critical splice donor site probably null
R7456:H2-M2 UTSW 17 37481661 missense possibly damaging 0.60
R7535:H2-M2 UTSW 17 37482637 missense probably benign 0.07
R7680:H2-M2 UTSW 17 37483025 missense possibly damaging 0.56
R8112:H2-M2 UTSW 17 37483492 missense unknown
R8910:H2-M2 UTSW 17 37481522 missense probably damaging 1.00
R9034:H2-M2 UTSW 17 37481285 missense probably benign 0.05
R9193:H2-M2 UTSW 17 37482537 missense probably benign 0.00
R9420:H2-M2 UTSW 17 37481324 missense not run
Posted On 2014-01-21