Incidental Mutation 'IGL02949:H2-D1'
ID364876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-D1
Ensembl Gene ENSMUSG00000073411
Gene Namehistocompatibility 2, D region locus 1
SynonymsH-2D
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL02949
Quality Score
Status
Chromosome17
Chromosomal Location35262730-35267499 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35264088 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 198 (N198S)
Ref Sequence ENSEMBL: ENSMUSP00000134570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172785]
PDB Structure
CRYSTAL STRUCTURE OF MURINE CLASS I MHC H2-DB COMPLEXED WITH A SYNTHETIC PEPTIDE P1027 [X-RAY DIFFRACTION]
MHC CLASS I H-2DB COMPLEXED WITH A SENDAI VIRUS NUCLEOPROTEIN PEPTIDE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33(C9M) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH SYNTHETIC PEPTIDE GP33 (C9M/K1A) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33 (C9M/K1S) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE LCMV PEPTIDIC EPITOPE GP33 IN COMPLEX WITH THE MURINE CLASS I MHC MOLECULE H-2DB [X-RAY DIFFRACTION]
THE THREE-DIMENSIONAL STRUCTURE OF H-2DB AT 2.4 ANGSTROMS RESOLUTION: IMPLICATIONS FOR ANTIGEN-DETERMINANT SELECTION [X-RAY DIFFRACTION]
Structure of Minor Histocompatibility Antigen peptide, H13a, complexed to H2-Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Gp276 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Np396 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
>> 46 additional structures at PDB <<
Predicted Effect probably benign
Transcript: ENSMUST00000172503
SMART Domains Protein: ENSMUSP00000134582
Gene: ENSMUSG00000073411

DomainStartEndE-ValueType
SCOP:d1hdma1 2 21 3e-8 SMART
Pfam:MHC_I_C 57 81 1.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172785
AA Change: N198S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: N198S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:MHC_I 25 203 8.3e-93 PFAM
IGc1 222 293 4.73e-23 SMART
transmembrane domain 308 330 N/A INTRINSIC
Pfam:MHC_I_C 337 361 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173167
SMART Domains Protein: ENSMUSP00000133518
Gene: ENSMUSG00000073411

DomainStartEndE-ValueType
SCOP:d1hdma1 2 21 3e-8 SMART
Pfam:MHC_I_C 52 76 1.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174325
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous allele are susceptible to chronic Theiler's Murine Encephalomyelitis Virus (TMEV) infection and demyelination, and lack the ability to respond to the viral peptide VP2121-130, the single Ag driving the protective CD8 T cell response in wild-type B6 mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
Dpys A G 15: 39,826,883 V358A probably damaging Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mblac1 T A 5: 138,194,857 C154S probably benign Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Msantd4 T A 9: 4,385,196 L307Q probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Olfr243 A G 7: 103,717,220 I209V probably benign Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srr T G 11: 74,908,737 E304A probably benign Het
Srsf1 A G 11: 88,049,526 probably benign Het
Txnrd2 T G 16: 18,477,706 S473A probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in H2-D1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:H2-D1 APN 17 35265809 missense possibly damaging 0.91
IGL02207:H2-D1 APN 17 35263414 missense possibly damaging 0.94
R0627:H2-D1 UTSW 17 35265922 missense probably damaging 1.00
R0904:H2-D1 UTSW 17 35263861 missense probably benign 0.00
R1238:H2-D1 UTSW 17 35263932 missense probably damaging 1.00
R1500:H2-D1 UTSW 17 35263588 missense probably benign 0.01
R1508:H2-D1 UTSW 17 35263868 missense probably damaging 1.00
R1627:H2-D1 UTSW 17 35263495 missense possibly damaging 0.79
R1730:H2-D1 UTSW 17 35263405 missense probably damaging 1.00
R1804:H2-D1 UTSW 17 35263552 missense probably damaging 1.00
R1964:H2-D1 UTSW 17 35263619 missense probably benign 0.06
R2125:H2-D1 UTSW 17 35264115 critical splice donor site probably null
R4652:H2-D1 UTSW 17 35266516 critical splice donor site probably null
R4911:H2-D1 UTSW 17 35265997 missense probably damaging 1.00
R4965:H2-D1 UTSW 17 35263905 missense probably damaging 1.00
R5423:H2-D1 UTSW 17 35265907 missense probably damaging 1.00
R6109:H2-D1 UTSW 17 35263937 missense probably damaging 0.99
R7525:H2-D1 UTSW 17 35265933 missense probably damaging 1.00
R7697:H2-D1 UTSW 17 35263145 missense probably damaging 1.00
Posted On2015-12-18