Incidental Mutation 'IGL00965:H2-Eb2'
ID 29330
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 # IGL00965
Quality Score
Status
Chromosome 17
Chromosomal Location 34325665-34340229 bp(+) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 34325797 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050325]
AlphaFold Q3UUV9
Predicted Effect probably null
Transcript: ENSMUST00000050325
SMART Domains Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 C T 2: 164,804,815 M1I probably null Het
Adam33 T C 2: 131,054,263 probably benign Het
Adgrl1 C T 8: 83,937,703 T1236I probably damaging Het
Ago4 A G 4: 126,493,314 V832A probably benign Het
Ankrd26 G T 6: 118,559,358 Y91* probably null Het
Atp9a C A 2: 168,640,680 V845L probably benign Het
Cfap100 C T 6: 90,415,805 E108K probably benign Het
Chrdl2 T A 7: 100,006,653 probably null Het
Erbb4 A T 1: 68,071,630 L1008* probably null Het
Fam92b T C 8: 120,166,690 Q254R probably benign Het
Gm42688 C T 6: 83,103,392 probably benign Het
Hmcn2 T C 2: 31,343,096 V219A probably damaging Het
Hsf2 C T 10: 57,512,100 P447S probably damaging Het
Hsph1 A T 5: 149,630,804 I162N probably damaging Het
Ick A G 9: 78,164,539 I498V probably benign Het
Il12rb2 T C 6: 67,360,577 T107A probably damaging Het
Lnx1 T A 5: 74,685,717 N24I probably benign Het
Mgat3 C A 15: 80,212,433 A487D probably damaging Het
Olfr1416 T C 1: 92,480,024 D199G probably damaging Het
Olfr1564 C T 17: 33,215,973 V124M probably benign Het
Olfr629 T A 7: 103,740,965 I92F probably benign Het
Olfr808 T A 10: 129,767,586 L30Q probably null Het
Ppargc1b A G 18: 61,323,164 Y75H probably damaging Het
Rgl2 G T 17: 33,935,936 C638F probably benign Het
Rhpn1 C A 15: 75,711,886 R407S probably damaging Het
Sipa1l2 A G 8: 125,447,874 S1222P probably benign Het
Tango6 T A 8: 106,742,010 probably benign Het
Tonsl G A 15: 76,631,880 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn2r13 A C 5: 109,156,098 F822L probably damaging Het
Other mutations in H2-Eb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:H2-Eb2 APN 17 34334367 missense probably damaging 0.98
IGL01380:H2-Eb2 APN 17 34335809 missense probably benign 0.41
IGL02057:H2-Eb2 APN 17 34335767 splice site probably benign
IGL02190:H2-Eb2 APN 17 34334374 missense probably damaging 1.00
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 2013-04-17