Incidental Mutation 'R3121:H2-T23'
ID 263256
Institutional Source Beutler Lab
Gene Symbol H2-T23
Ensembl Gene ENSMUSG00000067212
Gene Name histocompatibility 2, T region locus 23
Synonyms Qed-1, H-2T23, 37c, Qa-1, T23b, T23d, Qa1, T18c, T18c(37), 37b
MMRRC Submission 040594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R3121 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36340869-36343593 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36341855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 248 (M248L)
Ref Sequence ENSEMBL: ENSMUSP00000099739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102678]
AlphaFold P06339
PDB Structure Structure of the MHC class Ib molecule Qa-1b [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000102678
AA Change: M248L

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: M248L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 21 199 1.9e-93 PFAM
IGc1 218 289 1.89e-22 SMART
transmembrane domain 304 326 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174839
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (52/52)
MGI Phenotype PHENOTYPE: CD4+ T cells from mice with a homozygous null mutation have enhanced responses after infection or immunization, are resistant to suppressor activity mediated by a subset of CD8+ T cells, but are more susceptible to NK cell lysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,966,091 (GRCm39) M423K probably benign Het
Adamtsl1 T A 4: 86,255,246 (GRCm39) W780R probably damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Amph T A 13: 19,297,316 (GRCm39) L354* probably null Het
Ankk1 G A 9: 49,338,267 (GRCm39) L9F probably benign Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Bzw2 A C 12: 36,170,788 (GRCm39) probably null Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc50 G T 16: 27,228,139 (GRCm39) R102L possibly damaging Het
Cep83 T C 10: 94,622,700 (GRCm39) V592A probably damaging Het
Cgn G A 3: 94,685,792 (GRCm39) probably benign Het
Cidec C A 6: 113,405,086 (GRCm39) V195L probably benign Het
Cntln A G 4: 84,923,289 (GRCm39) probably benign Het
Cntrob A T 11: 69,213,526 (GRCm39) L88* probably null Het
Dnah17 C T 11: 117,931,912 (GRCm39) V3687M probably damaging Het
Dst T C 1: 34,328,729 (GRCm39) I4599T probably damaging Het
Dtl A T 1: 191,285,175 (GRCm39) Y320* probably null Het
Fam98b A G 2: 117,098,408 (GRCm39) T293A probably damaging Het
Farp1 G A 14: 121,460,138 (GRCm39) probably benign Het
Fat2 G T 11: 55,202,622 (GRCm39) P151T probably damaging Het
Fbxl17 A T 17: 63,778,419 (GRCm39) M497K probably damaging Het
Foxn4 T C 5: 114,396,776 (GRCm39) T236A probably damaging Het
Gm525 C T 11: 88,979,374 (GRCm39) probably benign Het
Golga4 C A 9: 118,386,448 (GRCm39) T1190K possibly damaging Het
Homez T C 14: 55,094,778 (GRCm39) E310G probably benign Het
Hydin A G 8: 111,233,138 (GRCm39) I1746V probably benign Het
Igkv1-35 T A 6: 69,988,641 (GRCm39) H6L probably benign Het
Kcnt2 T C 1: 140,356,622 (GRCm39) S354P probably damaging Het
Khdc4 A G 3: 88,596,599 (GRCm39) T127A probably damaging Het
Klra4 G T 6: 130,040,141 (GRCm39) Q44K probably benign Het
L3mbtl3 A G 10: 26,220,119 (GRCm39) probably benign Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Magea14 A T X: 51,057,968 (GRCm39) Y239* probably null Het
Map3k9 A G 12: 81,790,698 (GRCm39) I285T probably damaging Het
Or4a47 T A 2: 89,665,858 (GRCm39) I144L probably benign Het
Or6c6 A G 10: 129,186,552 (GRCm39) N40S possibly damaging Het
Pcdhb16 A T 18: 37,611,271 (GRCm39) Q77L possibly damaging Het
Pramel20 T A 4: 143,297,583 (GRCm39) M1K probably null Het
Proser3 A G 7: 30,239,796 (GRCm39) V436A probably benign Het
Relch A G 1: 105,653,524 (GRCm39) N834S probably benign Het
Resf1 T A 6: 149,230,741 (GRCm39) C1262* probably null Het
Sec24b C T 3: 129,795,953 (GRCm39) probably null Het
Slc2a2 A G 3: 28,775,898 (GRCm39) Q336R probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Spidr T C 16: 15,958,724 (GRCm39) K13E probably damaging Het
Tiam2 T A 17: 3,489,977 (GRCm39) M786K probably benign Het
Tktl2 T A 8: 66,964,808 (GRCm39) V122E probably damaging Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Zbbx T C 3: 74,989,153 (GRCm39) T317A possibly damaging Het
Zfp976 A G 7: 42,262,938 (GRCm39) C300R probably damaging Het
Other mutations in H2-T23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:H2-T23 APN 17 36,342,673 (GRCm39) missense probably damaging 1.00
IGL01685:H2-T23 APN 17 36,343,536 (GRCm39) missense probably benign 0.29
IGL02756:H2-T23 APN 17 36,342,580 (GRCm39) missense probably damaging 1.00
IGL03036:H2-T23 APN 17 36,343,249 (GRCm39) missense possibly damaging 0.73
LCD18:H2-T23 UTSW 17 36,342,108 (GRCm39) intron probably benign
R0539:H2-T23 UTSW 17 36,343,033 (GRCm39) splice site probably benign
R0845:H2-T23 UTSW 17 36,341,475 (GRCm39) missense probably benign 0.00
R1727:H2-T23 UTSW 17 36,342,545 (GRCm39) missense possibly damaging 0.52
R2044:H2-T23 UTSW 17 36,343,083 (GRCm39) missense probably damaging 1.00
R3122:H2-T23 UTSW 17 36,341,855 (GRCm39) missense probably benign 0.13
R3943:H2-T23 UTSW 17 36,341,535 (GRCm39) missense probably benign 0.01
R3944:H2-T23 UTSW 17 36,341,535 (GRCm39) missense probably benign 0.01
R4492:H2-T23 UTSW 17 36,343,058 (GRCm39) missense probably damaging 0.97
R4660:H2-T23 UTSW 17 36,341,108 (GRCm39) missense probably damaging 0.99
R4669:H2-T23 UTSW 17 36,342,690 (GRCm39) missense probably damaging 1.00
R4740:H2-T23 UTSW 17 36,343,016 (GRCm39) intron probably benign
R5151:H2-T23 UTSW 17 36,343,230 (GRCm39) missense probably damaging 1.00
R5196:H2-T23 UTSW 17 36,343,499 (GRCm39) critical splice donor site probably null
R5237:H2-T23 UTSW 17 36,341,258 (GRCm39) splice site probably null
R5307:H2-T23 UTSW 17 36,343,108 (GRCm39) missense probably benign 0.00
R5336:H2-T23 UTSW 17 36,342,550 (GRCm39) missense possibly damaging 0.85
R5646:H2-T23 UTSW 17 36,342,695 (GRCm39) missense possibly damaging 0.49
R5800:H2-T23 UTSW 17 36,342,496 (GRCm39) intron probably benign
R6013:H2-T23 UTSW 17 36,341,474 (GRCm39) missense probably benign 0.00
R6081:H2-T23 UTSW 17 36,342,707 (GRCm39) missense possibly damaging 0.90
R6382:H2-T23 UTSW 17 36,342,724 (GRCm39) missense probably damaging 1.00
R7043:H2-T23 UTSW 17 36,342,803 (GRCm39) missense probably damaging 1.00
R7134:H2-T23 UTSW 17 36,342,709 (GRCm39) missense probably damaging 1.00
R9383:H2-T23 UTSW 17 36,343,227 (GRCm39) missense possibly damaging 0.64
R9550:H2-T23 UTSW 17 36,342,712 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTATGATCCCAGCTCTGAGCC -3'
(R):5'- GCAAGATGCCTCATCCTTTCAAC -3'

Sequencing Primer
(F):5'- CCAACTCAGGGTCTGCAGAAG -3'
(R):5'- AGATGCCTCATCCTTTCAACTCTCTC -3'
Posted On 2015-02-05