Incidental Mutation 'IGL01685:H2-T23'
ID103933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T23
Ensembl Gene ENSMUSG00000067212
Gene Namehistocompatibility 2, T region locus 23
Synonyms37b, T18c(37), 37c, Qa-1, Qed-1, T23b, T18c, T23d, H-2T23, Qa1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01685
Quality Score
Status
Chromosome17
Chromosomal Location36029773-36032855 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36032644 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 9 (Q9R)
Ref Sequence ENSEMBL: ENSMUSP00000099739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102678]
PDB Structure
Structure of the MHC class Ib molecule Qa-1b [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000102678
AA Change: Q9R

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: Q9R

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: ENSMUST00000172633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174839
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,403,446 R66S possibly damaging Het
Adamtsl4 A G 3: 95,684,595 V61A possibly damaging Het
Arnt A G 3: 95,474,681 Y195C probably damaging Het
Brd3 A G 2: 27,459,488 I351T probably damaging Het
Cd28 T A 1: 60,763,148 Y75* probably null Het
Cyfip2 A G 11: 46,207,488 probably benign Het
Dip2a T G 10: 76,327,749 E39A probably damaging Het
Dst T C 1: 34,170,452 V1200A probably damaging Het
Dync2h1 A G 9: 7,142,297 L1216P probably damaging Het
Ecm2 A T 13: 49,528,898 I468F probably damaging Het
Gucy1b1 C A 3: 82,035,285 V517F probably benign Het
H2afy2 C T 10: 61,757,771 S42N probably damaging Het
Huwe1 T C X: 151,898,670 probably benign Het
Hydin A T 8: 110,355,033 K354* probably null Het
Ighv14-2 A T 12: 113,994,501 S107T probably damaging Het
Klk1b8 A C 7: 43,954,870 K254T possibly damaging Het
Lama3 T A 18: 12,453,880 probably benign Het
Mbd6 G T 10: 127,284,732 probably benign Het
Mob1a A T 6: 83,332,503 E32D probably benign Het
Mrps27 A T 13: 99,414,920 Q397L possibly damaging Het
Olfr147 T C 9: 38,403,021 I46T possibly damaging Het
Pcdhb18 A C 18: 37,491,931 K771N probably benign Het
Pcdhgc5 T G 18: 37,821,755 L694R probably damaging Het
Pi4ka A T 16: 17,325,202 D815E probably benign Het
Plin4 T C 17: 56,107,362 K88E probably damaging Het
Rint1 A T 5: 23,787,834 probably benign Het
Ssbp1 A G 6: 40,476,765 T82A probably damaging Het
Trpm5 A T 7: 143,082,354 S558T probably benign Het
Tti1 A G 2: 158,000,785 S775P probably benign Het
Zic3 T C X: 58,031,728 V183A probably benign Het
Other mutations in H2-T23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:H2-T23 APN 17 36031781 missense probably damaging 1.00
IGL02756:H2-T23 APN 17 36031688 missense probably damaging 1.00
IGL03036:H2-T23 APN 17 36032357 missense possibly damaging 0.73
LCD18:H2-T23 UTSW 17 36031216 intron probably benign
R0539:H2-T23 UTSW 17 36032141 splice site probably benign
R0845:H2-T23 UTSW 17 36030583 missense probably benign 0.00
R1727:H2-T23 UTSW 17 36031653 missense possibly damaging 0.52
R2044:H2-T23 UTSW 17 36032191 missense probably damaging 1.00
R3121:H2-T23 UTSW 17 36030963 missense probably benign 0.13
R3122:H2-T23 UTSW 17 36030963 missense probably benign 0.13
R3943:H2-T23 UTSW 17 36030643 missense probably benign 0.01
R3944:H2-T23 UTSW 17 36030643 missense probably benign 0.01
R4492:H2-T23 UTSW 17 36032166 missense probably damaging 0.97
R4660:H2-T23 UTSW 17 36030216 missense probably damaging 0.99
R4669:H2-T23 UTSW 17 36031798 missense probably damaging 1.00
R4740:H2-T23 UTSW 17 36032124 intron probably benign
R5151:H2-T23 UTSW 17 36032338 missense probably damaging 1.00
R5196:H2-T23 UTSW 17 36032607 critical splice donor site probably null
R5237:H2-T23 UTSW 17 36030366 splice site probably null
R5307:H2-T23 UTSW 17 36032216 missense probably benign 0.00
R5336:H2-T23 UTSW 17 36031658 missense possibly damaging 0.85
R5646:H2-T23 UTSW 17 36031803 missense possibly damaging 0.49
R5800:H2-T23 UTSW 17 36031604 intron probably benign
R6013:H2-T23 UTSW 17 36030582 missense probably benign 0.00
R6081:H2-T23 UTSW 17 36031815 missense possibly damaging 0.90
R6382:H2-T23 UTSW 17 36031832 missense probably damaging 1.00
R7043:H2-T23 UTSW 17 36031911 missense probably damaging 1.00
R7134:H2-T23 UTSW 17 36031817 missense probably damaging 1.00
Posted On2014-01-21