Incidental Mutation 'IGL02190:H2-Eb2'
ID 283818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Eb2
Ensembl Gene ENSMUSG00000067341
Gene Name histocompatibility 2, class II antigen E beta2
Synonyms A130038H09Rik, Ia5, H-2Eb2, Ia-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02190
Quality Score
Status
Chromosome 17
Chromosomal Location 34325665-34340229 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34334374 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 178 (N178I)
Ref Sequence ENSEMBL: ENSMUSP00000056814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050325]
AlphaFold Q3UUV9
Predicted Effect probably damaging
Transcript: ENSMUST00000050325
AA Change: N178I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: N178I

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
MHC_II_beta 42 115 8.29e-35 SMART
IGc1 140 211 1.24e-26 SMART
transmembrane domain 227 249 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,140,724 probably benign Het
AI314180 A T 4: 58,800,190 S1838R probably benign Het
Ano1 T C 7: 144,618,883 E521G probably benign Het
As3mt A T 19: 46,719,945 I224F probably benign Het
Atp5j2 C A 5: 145,183,832 probably benign Het
Cacna1h A G 17: 25,433,026 V48A probably benign Het
Ctu2 T C 8: 122,481,658 probably benign Het
Efcab5 T C 11: 77,121,314 R841G probably benign Het
Erbb3 A T 10: 128,571,010 probably null Het
Fkbp15 G T 4: 62,304,822 P947T possibly damaging Het
Gabpb1 A G 2: 126,653,549 probably benign Het
Gcn1l1 G T 5: 115,614,124 V2100L probably damaging Het
Gemin5 A C 11: 58,134,842 V977G probably damaging Het
Gpr107 T A 2: 31,178,320 Y265N probably damaging Het
Gpx8 T C 13: 113,043,309 probably benign Het
Ift172 C T 5: 31,254,458 V1587I possibly damaging Het
Lrrc45 A G 11: 120,718,508 T398A probably damaging Het
Mmrn1 G T 6: 60,987,193 V1059L probably benign Het
Morn5 A G 2: 36,079,515 D147G probably benign Het
Mphosph9 T C 5: 124,265,425 R847G possibly damaging Het
Nutm1 C T 2: 112,249,406 W721* probably null Het
Olfr1136 A G 2: 87,693,063 M273T probably benign Het
Olfr347 T C 2: 36,734,579 L86P probably benign Het
Olfr531 T C 7: 140,400,120 probably benign Het
Rgl3 A G 9: 21,981,708 F227L probably benign Het
Ropn1l G T 15: 31,443,341 L182I probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scgb1a1 A T 19: 9,087,867 L12Q probably damaging Het
Scp2 A G 4: 108,087,128 S237P probably benign Het
Skint5 T C 4: 113,940,765 Q207R possibly damaging Het
Slc16a5 A G 11: 115,462,609 M1V probably null Het
Tox2 G A 2: 163,323,006 R522H possibly damaging Het
Trip12 A T 1: 84,766,070 N505K probably damaging Het
Tuba1c G A 15: 99,037,989 D444N unknown Het
Vmn1r174 A G 7: 23,754,827 E306G unknown Het
Vmn2r111 A T 17: 22,570,773 F417L probably benign Het
Vmn2r15 A T 5: 109,293,374 M206K probably damaging Het
Vmn2r95 G T 17: 18,451,776 A592S probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in H2-Eb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:H2-Eb2 APN 17 34334367 missense probably damaging 0.98
IGL00965:H2-Eb2 APN 17 34325797 splice site probably null
IGL01380:H2-Eb2 APN 17 34335809 missense probably benign 0.41
IGL02057:H2-Eb2 APN 17 34335767 splice site probably benign
IGL02220:H2-Eb2 APN 17 34325687 utr 5 prime probably benign
R0469:H2-Eb2 UTSW 17 34334244 nonsense probably null
R0510:H2-Eb2 UTSW 17 34334244 nonsense probably null
R1169:H2-Eb2 UTSW 17 34333357 missense possibly damaging 0.89
R1334:H2-Eb2 UTSW 17 34334350 missense probably damaging 0.99
R1598:H2-Eb2 UTSW 17 34334374 missense probably damaging 1.00
R1991:H2-Eb2 UTSW 17 34334304 missense probably benign 0.15
R2103:H2-Eb2 UTSW 17 34334304 missense probably benign 0.15
R4191:H2-Eb2 UTSW 17 34344555 unclassified probably benign
R4194:H2-Eb2 UTSW 17 34333326 missense probably benign
R4461:H2-Eb2 UTSW 17 34333523 missense possibly damaging 0.80
R4774:H2-Eb2 UTSW 17 34334401 missense probably damaging 0.99
R4882:H2-Eb2 UTSW 17 34334256 missense probably benign
R5663:H2-Eb2 UTSW 17 34333408 missense possibly damaging 0.92
R6913:H2-Eb2 UTSW 17 34333549 missense possibly damaging 0.89
R7139:H2-Eb2 UTSW 17 34334421 missense probably benign 0.30
R7457:H2-Eb2 UTSW 17 34334347 missense probably damaging 1.00
R9173:H2-Eb2 UTSW 17 34333517 missense probably benign 0.37
Z1176:H2-Eb2 UTSW 17 34334309 missense possibly damaging 0.55
Posted On 2015-04-16