Incidental Mutation 'IGL00508:H2-Eb2'
ID 3871
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 H-2Eb2, Ia5, A130038H09Rik, Ia-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL00508
Quality Score
Status
Chromosome 17
Chromosomal Location 34544639-34560386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34553341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 176 (I176F)
Ref Sequence ENSEMBL: ENSMUSP00000056814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050325]
AlphaFold Q3UUV9
Predicted Effect probably damaging
Transcript: ENSMUST00000050325
AA Change: I176F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: I176F

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,654,306 (GRCm39) D2188E probably damaging Het
Atrx A G X: 104,867,405 (GRCm39) S2026P probably damaging Het
Cacna1b A C 2: 24,547,301 (GRCm39) probably null Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cfap57 C T 4: 118,438,367 (GRCm39) probably null Het
Ckap5 T G 2: 91,436,601 (GRCm39) V1567G probably damaging Het
Cyp2c38 A T 19: 39,449,169 (GRCm39) Y61* probably null Het
D130052B06Rik A G 11: 33,549,402 (GRCm39) E7G unknown Het
Dhx38 A G 8: 110,283,566 (GRCm39) L527P possibly damaging Het
Dnaaf5 A G 5: 139,163,701 (GRCm39) N653D probably benign Het
Dnah8 T G 17: 31,074,904 (GRCm39) M4541R probably damaging Het
Dpyd A T 3: 118,858,636 (GRCm39) T617S probably benign Het
Fpr2 A T 17: 18,113,034 (GRCm39) N10I probably damaging Het
Frmd4a A T 2: 4,599,545 (GRCm39) K524* probably null Het
Gpr45 C T 1: 43,071,452 (GRCm39) P32S possibly damaging Het
Hcrtr1 T A 4: 130,031,062 (GRCm39) N74I probably damaging Het
Ifi47 C T 11: 48,986,241 (GRCm39) Q3* probably null Het
Krt8 T A 15: 101,906,460 (GRCm39) M350L probably benign Het
Lilra6 A G 7: 3,914,553 (GRCm39) S533P probably benign Het
Map1b A T 13: 99,565,741 (GRCm39) S2327T unknown Het
Mcoln3 T A 3: 145,839,683 (GRCm39) I345N probably damaging Het
Mettl3 C A 14: 52,532,436 (GRCm39) probably benign Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Micall1 A G 15: 79,014,768 (GRCm39) K715E probably damaging Het
Pak1 G T 7: 97,503,775 (GRCm39) G37C probably benign Het
Pomt2 T G 12: 87,166,401 (GRCm39) H426P probably damaging Het
Pou2f3 G A 9: 43,051,258 (GRCm39) P155S probably benign Het
Psg25 A G 7: 18,263,656 (GRCm39) Y56H probably benign Het
Rab9 G T X: 165,240,860 (GRCm39) Y150* probably null Het
Rhox2g T A X: 36,824,463 (GRCm39) N152I probably damaging Het
Sema6d T C 2: 124,498,844 (GRCm39) probably benign Het
Simc1 C A 13: 54,672,989 (GRCm39) Q446K probably benign Het
Svs5 G T 2: 164,078,962 (GRCm39) T315K possibly damaging Het
Syt9 C T 7: 107,024,574 (GRCm39) R156* probably null Het
Tmem260 A T 14: 48,746,578 (GRCm39) Y618F probably damaging Het
Wdr44 A G X: 23,666,783 (GRCm39) I719V possibly damaging Het
Zfp518a T G 19: 40,901,914 (GRCm39) I614M probably damaging Het
Other mutations in H2-Eb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:H2-Eb2 APN 17 34,544,771 (GRCm39) splice site probably null
IGL01380:H2-Eb2 APN 17 34,554,783 (GRCm39) missense probably benign 0.41
IGL02057:H2-Eb2 APN 17 34,554,741 (GRCm39) splice site probably benign
IGL02190:H2-Eb2 APN 17 34,553,348 (GRCm39) missense probably damaging 1.00
IGL02220:H2-Eb2 APN 17 34,544,661 (GRCm39) utr 5 prime probably benign
R0469:H2-Eb2 UTSW 17 34,553,218 (GRCm39) nonsense probably null
R0510:H2-Eb2 UTSW 17 34,553,218 (GRCm39) nonsense probably null
R1169:H2-Eb2 UTSW 17 34,552,331 (GRCm39) missense possibly damaging 0.89
R1334:H2-Eb2 UTSW 17 34,553,324 (GRCm39) missense probably damaging 0.99
R1598:H2-Eb2 UTSW 17 34,553,348 (GRCm39) missense probably damaging 1.00
R1991:H2-Eb2 UTSW 17 34,553,278 (GRCm39) missense probably benign 0.15
R2103:H2-Eb2 UTSW 17 34,553,278 (GRCm39) missense probably benign 0.15
R4191:H2-Eb2 UTSW 17 34,563,529 (GRCm39) unclassified probably benign
R4194:H2-Eb2 UTSW 17 34,552,300 (GRCm39) missense probably benign
R4461:H2-Eb2 UTSW 17 34,552,497 (GRCm39) missense possibly damaging 0.80
R4774:H2-Eb2 UTSW 17 34,553,375 (GRCm39) missense probably damaging 0.99
R4882:H2-Eb2 UTSW 17 34,553,230 (GRCm39) missense probably benign
R5663:H2-Eb2 UTSW 17 34,552,382 (GRCm39) missense possibly damaging 0.92
R6913:H2-Eb2 UTSW 17 34,552,523 (GRCm39) missense possibly damaging 0.89
R7139:H2-Eb2 UTSW 17 34,553,395 (GRCm39) missense probably benign 0.30
R7457:H2-Eb2 UTSW 17 34,553,321 (GRCm39) missense probably damaging 1.00
R9173:H2-Eb2 UTSW 17 34,552,491 (GRCm39) missense probably benign 0.37
Z1176:H2-Eb2 UTSW 17 34,553,283 (GRCm39) missense possibly damaging 0.55
Posted On 2012-04-20