Incidental Mutation 'IGL01077:H2-DMb2'
ID 53021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-DMb2
Ensembl Gene ENSMUSG00000037548
Gene Name histocompatibility 2, class II, locus Mb2
Synonyms H2-M beta2, H-2Mb2, H2-Mb2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01077
Quality Score
Status
Chromosome 17
Chromosomal Location 34362281-34370529 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34367587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 3 (A3S)
Ref Sequence ENSEMBL: ENSMUSP00000126533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041982] [ENSMUST00000114232] [ENSMUST00000171231]
AlphaFold Q31099
Predicted Effect probably damaging
Transcript: ENSMUST00000041982
AA Change: A134S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043526
Gene: ENSMUSG00000037548
AA Change: A134S

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
MHC_II_beta 27 105 7.87e-27 SMART
IGc1 130 202 9.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114232
SMART Domains Protein: ENSMUSP00000109870
Gene: ENSMUSG00000079547

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
MHC_II_beta 27 105 3.45e-23 SMART
IGc1 130 202 9.6e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171231
AA Change: A3S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126533
Gene: ENSMUSG00000037548
AA Change: A3S

DomainStartEndE-ValueType
IGc1 2 71 6.48e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173262
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,096,569 (GRCm39) probably benign Het
Arhgap4 A G X: 72,943,699 (GRCm39) probably benign Het
Ascc3 T G 10: 50,525,413 (GRCm39) probably benign Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Car10 T C 11: 93,487,969 (GRCm39) I222T possibly damaging Het
Cep250 G A 2: 155,804,054 (GRCm39) V55M probably damaging Het
Chst4 T A 8: 110,756,597 (GRCm39) Y422F probably benign Het
Dnajc13 T C 9: 104,108,220 (GRCm39) E185G probably benign Het
Dtx2 T A 5: 136,058,057 (GRCm39) M454K possibly damaging Het
Flg2 T A 3: 93,127,513 (GRCm39) S2142T unknown Het
Ganc C T 2: 120,276,996 (GRCm39) T686M possibly damaging Het
Gm53 C T 11: 96,142,594 (GRCm39) noncoding transcript Het
Gria3 T C X: 40,677,369 (GRCm39) V254A possibly damaging Het
Mtrex A T 13: 113,051,023 (GRCm39) I184K probably damaging Het
Myzap T C 9: 71,454,042 (GRCm39) E343G probably damaging Het
Nap1l2 T C X: 102,228,922 (GRCm39) D332G probably benign Het
Npr1 T G 3: 90,365,669 (GRCm39) D628A probably damaging Het
Raet1e T C 10: 22,057,219 (GRCm39) L181S probably damaging Het
Rnf43 G T 11: 87,622,718 (GRCm39) M606I probably benign Het
Serpinb6b G A 13: 33,162,049 (GRCm39) D283N possibly damaging Het
Slit2 A G 5: 48,374,785 (GRCm39) probably null Het
Supt5 C T 7: 28,023,213 (GRCm39) W323* probably null Het
Svep1 T A 4: 58,068,760 (GRCm39) I3009F possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tll1 T C 8: 64,523,266 (GRCm39) Y482C probably benign Het
Trappc8 G A 18: 20,970,035 (GRCm39) T985I probably benign Het
Zfp945 T C 17: 23,071,359 (GRCm39) K180R probably damaging Het
Other mutations in H2-DMb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:H2-DMb2 APN 17 34,366,694 (GRCm39) missense probably damaging 1.00
IGL02691:H2-DMb2 APN 17 34,366,832 (GRCm39) missense probably benign
R0909:H2-DMb2 UTSW 17 34,367,783 (GRCm39) missense probably benign 0.00
R1299:H2-DMb2 UTSW 17 34,369,561 (GRCm39) missense probably benign 0.08
R1882:H2-DMb2 UTSW 17 34,366,834 (GRCm39) missense probably damaging 1.00
R4770:H2-DMb2 UTSW 17 34,367,698 (GRCm39) missense probably damaging 1.00
R4914:H2-DMb2 UTSW 17 34,369,503 (GRCm39) missense probably benign 0.05
R5265:H2-DMb2 UTSW 17 34,367,536 (GRCm39) missense probably damaging 1.00
R5561:H2-DMb2 UTSW 17 34,364,445 (GRCm39) critical splice donor site probably null
R5906:H2-DMb2 UTSW 17 34,367,582 (GRCm39) start codon destroyed probably null 0.99
R7970:H2-DMb2 UTSW 17 34,369,572 (GRCm39) missense probably benign 0.02
R8842:H2-DMb2 UTSW 17 34,366,904 (GRCm39) missense probably damaging 1.00
R8973:H2-DMb2 UTSW 17 34,367,699 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21