Incidental Mutation 'IGL02207:H2-D1'
ID 284504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-D1
Ensembl Gene ENSMUSG00000073411
Gene Name histocompatibility 2, D region locus 1
Synonyms H-2D
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02207
Quality Score
Status
Chromosome 17
Chromosomal Location 35482070-35486473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35482390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 37 (S37T)
Ref Sequence ENSEMBL: ENSMUSP00000134570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172785]
AlphaFold no structure available at present
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 possibly damaging
Transcript: ENSMUST00000172785
AA Change: S37T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: S37T

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,992,993 (GRCm39) E702G probably damaging Het
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Agap3 A T 5: 24,704,934 (GRCm39) T660S probably benign Het
Amotl2 A T 9: 102,601,896 (GRCm39) E380V probably damaging Het
Ap4e1 A G 2: 126,853,736 (GRCm39) E58G probably damaging Het
Arap3 G A 18: 38,120,906 (GRCm39) A713V probably benign Het
B4galt2 T C 4: 117,738,718 (GRCm39) D33G probably damaging Het
Bbs7 A T 3: 36,658,639 (GRCm39) S212T probably benign Het
Ccl26 A G 5: 135,592,224 (GRCm39) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm39) S339C probably benign Het
Cd55 A G 1: 130,380,156 (GRCm39) V274A possibly damaging Het
Cenpw T G 10: 30,074,577 (GRCm39) probably null Het
Cert1 T C 13: 96,761,300 (GRCm39) probably null Het
Chrnb4 T C 9: 54,942,500 (GRCm39) D258G probably damaging Het
Commd3 T C 2: 18,678,819 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b23 C A 7: 26,381,180 (GRCm39) R59L probably damaging Het
Edar G T 10: 58,446,343 (GRCm39) T194K probably damaging Het
Edem3 A G 1: 151,684,111 (GRCm39) I733V possibly damaging Het
Elmod2 T C 8: 84,048,135 (GRCm39) Y109C probably benign Het
Eps15 C T 4: 109,161,945 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,412 (GRCm39) V1937A probably benign Het
Fdx2 T A 9: 20,979,415 (GRCm39) probably null Het
Flg2 A T 3: 93,127,435 (GRCm39) I2116F unknown Het
Gm15091 A G X: 148,760,462 (GRCm39) D424G possibly damaging Het
Gm16380 T A 9: 53,791,823 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,311,947 (GRCm39) V60M possibly damaging Het
Grip1 G A 10: 119,911,214 (GRCm39) R1044K probably damaging Het
Havcr1 C T 11: 46,669,403 (GRCm39) A294V probably benign Het
Herc4 G A 10: 63,135,023 (GRCm39) probably null Het
Ift140 A G 17: 25,274,572 (GRCm39) Y748C probably benign Het
Il20ra A G 10: 19,627,326 (GRCm39) T242A probably damaging Het
Ilvbl G A 10: 78,419,536 (GRCm39) probably null Het
Kif18a A T 2: 109,127,052 (GRCm39) I329L probably damaging Het
Kmt2a T A 9: 44,758,979 (GRCm39) I957F probably damaging Het
Krt1 A G 15: 101,757,051 (GRCm39) I282T possibly damaging Het
Lamb1 T G 12: 31,379,434 (GRCm39) V1768G probably damaging Het
Nek9 A T 12: 85,350,257 (GRCm39) L939* probably null Het
Nfe2l2 A G 2: 75,508,869 (GRCm39) L122P probably damaging Het
Nin T C 12: 70,103,431 (GRCm39) M270V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Nrde2 T C 12: 100,097,190 (GRCm39) Y870C probably benign Het
Nsmce2 A G 15: 59,287,927 (GRCm39) M71V probably benign Het
Ocstamp T C 2: 165,239,583 (GRCm39) H201R possibly damaging Het
Oog4 T C 4: 143,165,510 (GRCm39) I212M probably benign Het
Or11g2 G A 14: 50,856,015 (GRCm39) G112D probably damaging Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Osmr T C 15: 6,876,628 (GRCm39) T99A probably benign Het
Pdia4 A T 6: 47,773,741 (GRCm39) M536K probably benign Het
Pdyn A T 2: 129,530,438 (GRCm39) L77H probably damaging Het
Pikfyve T C 1: 65,290,837 (GRCm39) probably null Het
Plcb1 A G 2: 135,229,091 (GRCm39) E1105G probably damaging Het
Rb1 A T 14: 73,443,525 (GRCm39) D743E probably damaging Het
Rdh14 G A 12: 10,444,712 (GRCm39) V188I possibly damaging Het
Scd3 T C 19: 44,204,028 (GRCm39) V72A possibly damaging Het
Shld1 A T 2: 132,533,866 (GRCm39) probably benign Het
Slc25a27 G A 17: 43,972,575 (GRCm39) R104W probably damaging Het
Slc29a4 A G 5: 142,704,640 (GRCm39) D394G possibly damaging Het
Slco1a8 A T 6: 141,936,158 (GRCm39) I309N possibly damaging Het
Snx29 T G 16: 11,556,216 (GRCm39) M407R probably damaging Het
Syf2 A G 4: 134,662,363 (GRCm39) probably null Het
Syn1 T C X: 20,731,376 (GRCm39) Q321R probably benign Het
Tbc1d12 A T 19: 38,905,091 (GRCm39) D602V probably damaging Het
Tenm4 A T 7: 96,523,323 (GRCm39) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm39) probably benign Het
Trav6-2 G A 14: 52,904,889 (GRCm39) V8M possibly damaging Het
Unc119b A G 5: 115,272,813 (GRCm39) S53P probably benign Het
Vmp1 T A 11: 86,498,019 (GRCm39) I299F possibly damaging Het
Xpot T C 10: 121,449,485 (GRCm39) Y194C probably damaging Het
Zbtb10 T A 3: 9,345,525 (GRCm39) probably null Het
Other mutations in H2-D1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:H2-D1 APN 17 35,484,785 (GRCm39) missense possibly damaging 0.91
IGL02949:H2-D1 APN 17 35,483,064 (GRCm39) missense probably benign 0.02
Ancillum UTSW 17 35,482,487 (GRCm39) missense probably damaging 0.98
subaltern UTSW 17 35,482,913 (GRCm39) missense probably damaging 0.99
R0627:H2-D1 UTSW 17 35,484,898 (GRCm39) missense probably damaging 1.00
R0904:H2-D1 UTSW 17 35,482,837 (GRCm39) missense probably benign 0.00
R1238:H2-D1 UTSW 17 35,482,908 (GRCm39) missense probably damaging 1.00
R1500:H2-D1 UTSW 17 35,482,564 (GRCm39) missense probably benign 0.01
R1508:H2-D1 UTSW 17 35,482,844 (GRCm39) missense probably damaging 1.00
R1627:H2-D1 UTSW 17 35,482,471 (GRCm39) missense possibly damaging 0.79
R1730:H2-D1 UTSW 17 35,482,381 (GRCm39) missense probably damaging 1.00
R1804:H2-D1 UTSW 17 35,482,528 (GRCm39) missense probably damaging 1.00
R1964:H2-D1 UTSW 17 35,482,595 (GRCm39) missense probably benign 0.06
R2125:H2-D1 UTSW 17 35,483,091 (GRCm39) critical splice donor site probably null
R4652:H2-D1 UTSW 17 35,485,492 (GRCm39) critical splice donor site probably null
R4911:H2-D1 UTSW 17 35,484,973 (GRCm39) missense probably damaging 1.00
R4965:H2-D1 UTSW 17 35,482,881 (GRCm39) missense probably damaging 1.00
R5423:H2-D1 UTSW 17 35,484,883 (GRCm39) missense probably damaging 1.00
R6109:H2-D1 UTSW 17 35,482,913 (GRCm39) missense probably damaging 0.99
R7525:H2-D1 UTSW 17 35,484,909 (GRCm39) missense probably damaging 1.00
R7697:H2-D1 UTSW 17 35,482,121 (GRCm39) missense probably damaging 1.00
R7832:H2-D1 UTSW 17 35,482,848 (GRCm39) missense probably damaging 0.99
R7903:H2-D1 UTSW 17 35,482,967 (GRCm39) missense probably damaging 0.99
R8004:H2-D1 UTSW 17 35,485,672 (GRCm39) missense probably benign 0.00
R8167:H2-D1 UTSW 17 35,485,741 (GRCm39) missense
R8465:H2-D1 UTSW 17 35,482,487 (GRCm39) missense probably damaging 0.98
R8786:H2-D1 UTSW 17 35,482,844 (GRCm39) missense probably damaging 1.00
R9188:H2-D1 UTSW 17 35,484,778 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16