Incidental Mutation 'R3943:H2-T23'
ID 307567
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 040924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R3943 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36340869-36343593 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36341535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 312 (V312A)
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: V312A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: V312A

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (49/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp A G 2: 168,026,980 (GRCm39) I105T possibly damaging Het
Atf3 A G 1: 190,903,713 (GRCm39) I171T possibly damaging Het
Atp6v0a1 A G 11: 100,946,343 (GRCm39) I773V probably benign Het
Bltp2 T A 11: 78,160,350 (GRCm39) L603* probably null Het
Cad T A 5: 31,229,729 (GRCm39) probably null Het
Camkv T A 9: 107,825,182 (GRCm39) D366E possibly damaging Het
Dnah8 T A 17: 30,913,039 (GRCm39) probably benign Het
Dock7 A G 4: 98,880,668 (GRCm39) S932P probably damaging Het
Fam227a C T 15: 79,505,060 (GRCm39) probably benign Het
Fbp2 A G 13: 62,989,607 (GRCm39) F233S possibly damaging Het
Gnptab G T 10: 88,269,756 (GRCm39) V820L probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpr158 C A 2: 21,373,370 (GRCm39) R102S possibly damaging Het
Gramd1b A T 9: 40,442,340 (GRCm39) M1K probably null Het
Hltf A T 3: 20,146,908 (GRCm39) I494F probably damaging Het
Il16 G A 7: 83,301,223 (GRCm39) L300F probably damaging Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Kcnq1 T C 7: 142,979,825 (GRCm39) L657P probably damaging Het
Krt4 G A 15: 101,829,685 (GRCm39) T281M probably benign Het
Mia3 A G 1: 183,140,127 (GRCm39) F196S possibly damaging Het
Naip6 T C 13: 100,431,247 (GRCm39) T1197A probably benign Het
Nrxn2 T A 19: 6,523,365 (GRCm39) N204K probably damaging Het
Or7g27 T A 9: 19,250,371 (GRCm39) M205K probably benign Het
Rassf6 G T 5: 90,752,185 (GRCm39) Q258K possibly damaging Het
Rhpn1 T C 15: 75,583,655 (GRCm39) L380P probably damaging Het
Ribc2 A G 15: 85,019,451 (GRCm39) M78V probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint5 T A 4: 113,799,950 (GRCm39) H73L probably damaging Het
Smg6 G A 11: 74,820,367 (GRCm39) G213R probably damaging Het
Sspn T A 6: 145,880,083 (GRCm39) W62R probably damaging Het
Stard9 A G 2: 120,528,710 (GRCm39) S1656G probably benign Het
Svep1 T A 4: 58,084,807 (GRCm39) probably null Het
Tab1 T C 15: 80,037,941 (GRCm39) L258P probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trf T A 9: 103,100,151 (GRCm39) I271F probably benign Het
Trpm7 A T 2: 126,673,138 (GRCm39) N538K possibly damaging Het
Usp28 T A 9: 48,911,666 (GRCm39) L25I probably benign Het
Vmn2r14 A T 5: 109,363,930 (GRCm39) I662N probably damaging Het
Vmn2r42 A T 7: 8,197,779 (GRCm39) F280Y possibly damaging Het
Vps8 A T 16: 21,288,873 (GRCm39) N411Y probably damaging Het
Vwa2 T G 19: 56,897,747 (GRCm39) L684R probably damaging Het
Zfp712 T C 13: 67,189,396 (GRCm39) Q377R probably benign Het
Zfp947 C A 17: 22,364,801 (GRCm39) G291V probably damaging Het
Zpld2 T C 4: 133,927,656 (GRCm39) T366A probably benign 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
R3121:H2-T23 UTSW 17 36,341,855 (GRCm39) missense probably benign 0.13
R3122:H2-T23 UTSW 17 36,341,855 (GRCm39) missense probably benign 0.13
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'- AACTGACAGCTGACCCAGTTG -3'
(R):5'- ATGTGTACCATGAGGGGCTG -3'

Sequencing Primer
(F):5'- ACAGCTGACCCAGTTGGAGAC -3'
(R):5'- ATGAGGGGCTGCCTGAG -3'
Posted On 2015-04-17