Incidental Mutation 'R7903:H2-D1'
ID 610119
Institutional Source Beutler Lab
Gene Symbol H2-D1
Ensembl Gene ENSMUSG00000073411
Gene Name histocompatibility 2, D region locus 1
Synonyms H-2D
MMRRC Submission 045955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7903 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35482070-35486473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35482967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 166 (I166F)
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 probably damaging
Transcript: ENSMUST00000172785
AA Change: I166F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: I166F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik T C 18: 24,608,783 (GRCm39) probably null Het
Acsm2 A T 7: 119,195,215 (GRCm39) T596S probably benign Het
Aggf1 T C 13: 95,492,966 (GRCm39) K548E probably damaging Het
Anapc15 T G 7: 101,547,193 (GRCm39) V23G probably benign Het
Atp10a T C 7: 58,308,570 (GRCm39) L123P probably damaging Het
Brf2 G A 8: 27,616,121 (GRCm39) T88M possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccdc14 A T 16: 34,525,280 (GRCm39) H191L probably damaging Het
Cdc42bpg T A 19: 6,363,499 (GRCm39) V453E possibly damaging Het
Corin T C 5: 72,458,843 (GRCm39) K1110E probably benign Het
Cubn T C 2: 13,473,680 (GRCm39) D421G probably damaging Het
D130043K22Rik T G 13: 25,059,995 (GRCm39) V622G probably damaging Het
Ddb1 T C 19: 10,585,712 (GRCm39) V142A probably benign Het
Dnah3 A G 7: 119,641,351 (GRCm39) S1190P probably damaging Het
Eif4a3l2 A G 6: 116,528,212 (GRCm39) T30A probably benign Het
Elavl1 T C 8: 4,351,756 (GRCm39) K120R probably benign Het
Epb41l3 T A 17: 69,581,332 (GRCm39) probably null Het
Fubp1 G A 3: 151,920,498 (GRCm39) W79* probably null Het
Gsto2 T A 19: 47,873,096 (GRCm39) I157N possibly damaging Het
Gucy2d A G 7: 98,108,272 (GRCm39) D735G probably damaging Het
Hars2 C A 18: 36,919,245 (GRCm39) R128S probably damaging Het
Igf1r T C 7: 67,834,500 (GRCm39) F496S probably damaging Het
Inf2 T C 12: 112,578,988 (GRCm39) V1256A unknown Het
Kif19b T C 5: 140,461,767 (GRCm39) V523A probably damaging Het
Krt34 A T 11: 99,932,321 (GRCm39) M1K probably null Het
Lamtor2 T C 3: 88,459,817 (GRCm39) N26D possibly damaging Het
Map3k10 T C 7: 27,357,382 (GRCm39) T799A probably damaging Het
Map3k8 T C 18: 4,349,162 (GRCm39) D52G probably benign Het
Mcm10 T C 2: 5,000,613 (GRCm39) T693A probably benign Het
Mgarp G T 3: 51,304,119 (GRCm39) A10E Het
Mns1 A T 9: 72,360,093 (GRCm39) E414D probably benign Het
Myo16 A G 8: 10,426,265 (GRCm39) S341G probably null Het
Nags A T 11: 102,037,503 (GRCm39) D198V possibly damaging Het
Nedd4l C T 18: 65,319,438 (GRCm39) P464S probably damaging Het
Nicol1 T A 5: 34,140,910 (GRCm39) probably null Het
Nsfl1c T C 2: 151,338,522 (GRCm39) Y42H probably damaging Het
Obscn T C 11: 58,969,942 (GRCm39) M67V probably benign Het
Or2b28 T A 13: 21,532,046 (GRCm39) I316K probably benign Het
Pcsk5 A T 19: 17,549,847 (GRCm39) L715Q probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Pfkfb4 A T 9: 108,828,019 (GRCm39) N64Y probably damaging Het
Pidd1 A G 7: 141,019,744 (GRCm39) F673L probably damaging Het
Pla2g7 A G 17: 43,911,512 (GRCm39) probably null Het
Pml T C 9: 58,156,867 (GRCm39) E36G probably benign Het
Proser1 C A 3: 53,386,503 (GRCm39) S795* probably null Het
Ptprs T A 17: 56,731,960 (GRCm39) K1016* probably null Het
Rbfox1 T A 16: 7,042,375 (GRCm39) S76R probably benign Het
Reck A T 4: 43,927,166 (GRCm39) I486F possibly damaging Het
Rnf103 A T 6: 71,486,138 (GRCm39) K256N probably damaging Het
Setd2 A T 9: 110,446,905 (GRCm39) N713I Het
Slc38a4 C T 15: 96,906,809 (GRCm39) G310S probably benign Het
Slc7a4 C T 16: 17,393,145 (GRCm39) R218H probably benign Het
Slc7a7 T C 14: 54,611,366 (GRCm39) H344R probably damaging Het
Smarcc1 G A 9: 110,033,334 (GRCm39) E810K probably benign Het
Sord T A 2: 122,093,706 (GRCm39) M275K probably benign Het
Spire2 C A 8: 124,095,489 (GRCm39) P631T probably benign Het
Sult6b1 T C 17: 79,198,279 (GRCm39) K207R probably benign Het
Syde2 T A 3: 145,704,543 (GRCm39) D498E probably damaging Het
Syne2 C T 12: 76,110,958 (GRCm39) T1024M probably damaging Het
Tdrd9 T A 12: 112,018,410 (GRCm39) D1276E possibly damaging Het
Tm7sf2 A G 19: 6,121,365 (GRCm39) F219S probably damaging Het
Tmcc2 C T 1: 132,288,199 (GRCm39) G496D probably benign Het
Tmtc4 G A 14: 123,165,060 (GRCm39) H600Y probably benign Het
Vmn1r224 A T 17: 20,640,309 (GRCm39) L295F probably benign Het
Vmn1r91 T C 7: 19,835,135 (GRCm39) I18T possibly damaging Het
Vwa7 G A 17: 35,236,763 (GRCm39) R110H probably damaging Het
Wbp2nl C T 15: 82,190,332 (GRCm39) Q87* 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
IGL02207:H2-D1 APN 17 35,482,390 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- CCCTTTCAGTTTGGAGGAGTC -3'
(R):5'- AGGGTTTCTTCTTCCCCAGGAC -3'

Sequencing Primer
(F):5'- AGATGTCTGGCTGTGACT -3'
(R):5'- TCTTCCCCAGGACTGAGC -3'
Posted On 2019-12-20