Incidental Mutation 'IGL03218:H2-M10.3'
ID 413527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.3
Ensembl Gene ENSMUSG00000058124
Gene Name histocompatibility 2, M region locus 10.3
Synonyms 5.3H
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL03218
Quality Score
Status
Chromosome 17
Chromosomal Location 36675896-36679309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36678279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 182 (Y182F)
Ref Sequence ENSEMBL: ENSMUSP00000073236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073546]
AlphaFold Q85ZW6
Predicted Effect probably damaging
Transcript: ENSMUST00000073546
AA Change: Y182F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073236
Gene: ENSMUSG00000058124
AA Change: Y182F

DomainStartEndE-ValueType
Pfam:MHC_I 24 202 7e-51 PFAM
IGc1 221 292 6.58e-22 SMART
transmembrane domain 305 327 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,561,727 (GRCm39) probably null Het
Acot9 T A X: 154,078,207 (GRCm39) V251E possibly damaging Het
Agtpbp1 A G 13: 59,648,021 (GRCm39) S600P possibly damaging Het
Amfr A T 8: 94,726,964 (GRCm39) M157K probably damaging Het
Arvcf T C 16: 18,222,875 (GRCm39) probably benign Het
Ascc3 T C 10: 50,699,949 (GRCm39) V1924A possibly damaging Het
Atp10a T A 7: 58,438,196 (GRCm39) probably null Het
Atp1a2 T A 1: 172,116,870 (GRCm39) E249V probably null Het
C1qc A G 4: 136,617,598 (GRCm39) L166P probably damaging Het
Col4a3 C A 1: 82,620,927 (GRCm39) probably benign Het
Def8 A G 8: 124,183,175 (GRCm39) D258G probably damaging Het
Dll1 T C 17: 15,593,830 (GRCm39) D179G probably benign Het
Dnah14 C A 1: 181,582,834 (GRCm39) H3124Q probably benign Het
Fabp5 T A 3: 10,080,023 (GRCm39) probably benign Het
Fam133b C T 5: 3,604,684 (GRCm39) Q24* probably null Het
Fam13c A C 10: 70,284,599 (GRCm39) D25A possibly damaging Het
Flna A G X: 73,278,208 (GRCm39) probably null Het
Frem1 T A 4: 82,832,883 (GRCm39) T1917S probably benign Het
Frmd4b T C 6: 97,285,075 (GRCm39) T337A probably benign Het
Fxyd7 C T 7: 30,743,995 (GRCm39) probably null Het
Galnt5 T G 2: 57,889,401 (GRCm39) S334A possibly damaging Het
Gm10220 T C 5: 26,323,696 (GRCm39) K117R probably damaging Het
Gpd2 T A 2: 57,197,066 (GRCm39) L207H probably damaging Het
Itga8 T C 2: 12,115,836 (GRCm39) I1018V possibly damaging Het
Letmd1 T C 15: 100,367,709 (GRCm39) F89S probably damaging Het
Mcm3ap A G 10: 76,318,567 (GRCm39) Y696C probably damaging Het
Mcpt9 A G 14: 56,264,908 (GRCm39) Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 (GRCm39) V29A probably benign Het
Myom1 A G 17: 71,391,311 (GRCm39) D940G possibly damaging Het
Myzap A G 9: 71,462,871 (GRCm39) M225T probably benign Het
Naa25 A G 5: 121,564,133 (GRCm39) Y516C probably damaging Het
Nsdhl T A X: 72,000,052 (GRCm39) probably benign Het
Olfml1 A G 7: 107,170,476 (GRCm39) E121G possibly damaging Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Or4a72 A G 2: 89,405,935 (GRCm39) V45A probably benign Het
Or8k38 A G 2: 86,488,703 (GRCm39) I33T probably benign Het
Phex C T X: 155,961,783 (GRCm39) G636E probably damaging Het
Pkd2l2 A T 18: 34,563,373 (GRCm39) I475F probably damaging Het
Polr2b T A 5: 77,463,764 (GRCm39) S54T probably benign Het
Prkx A T X: 76,829,806 (GRCm39) L85Q probably damaging Het
Smc1b A T 15: 84,973,914 (GRCm39) I914N probably benign Het
Susd2 A G 10: 75,478,459 (GRCm39) L39P probably benign Het
Teddm2 C T 1: 153,726,770 (GRCm39) V35I probably benign Het
Tspo T A 15: 83,455,631 (GRCm39) V6E possibly damaging Het
Vps41 G T 13: 19,013,440 (GRCm39) V353F possibly damaging Het
Wfdc18 T A 11: 83,600,033 (GRCm39) probably null Het
Wsb1 C T 11: 79,139,324 (GRCm39) S124N probably damaging Het
Zfp445 T C 9: 122,686,594 (GRCm39) E177G probably benign Het
Zfp759 G T 13: 67,287,480 (GRCm39) V344L probably benign Het
Other mutations in H2-M10.3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:H2-M10.3 APN 17 36,678,972 (GRCm39) missense possibly damaging 0.84
IGL02410:H2-M10.3 APN 17 36,677,428 (GRCm39) missense probably damaging 1.00
IGL02625:H2-M10.3 APN 17 36,678,417 (GRCm39) missense probably benign 0.00
R0815:H2-M10.3 UTSW 17 36,677,582 (GRCm39) missense probably damaging 1.00
R0863:H2-M10.3 UTSW 17 36,677,582 (GRCm39) missense probably damaging 1.00
R1463:H2-M10.3 UTSW 17 36,677,612 (GRCm39) missense probably damaging 1.00
R1737:H2-M10.3 UTSW 17 36,679,296 (GRCm39) missense probably benign 0.22
R1833:H2-M10.3 UTSW 17 36,678,387 (GRCm39) missense probably damaging 1.00
R1954:H2-M10.3 UTSW 17 36,678,390 (GRCm39) missense probably damaging 1.00
R4515:H2-M10.3 UTSW 17 36,678,722 (GRCm39) splice site probably null
R4517:H2-M10.3 UTSW 17 36,678,722 (GRCm39) splice site probably null
R4519:H2-M10.3 UTSW 17 36,678,722 (GRCm39) splice site probably null
R4834:H2-M10.3 UTSW 17 36,678,286 (GRCm39) missense probably benign 0.28
R4863:H2-M10.3 UTSW 17 36,677,528 (GRCm39) missense probably damaging 1.00
R5473:H2-M10.3 UTSW 17 36,678,261 (GRCm39) missense probably damaging 0.97
R6038:H2-M10.3 UTSW 17 36,679,287 (GRCm39) missense probably benign 0.15
R6038:H2-M10.3 UTSW 17 36,679,287 (GRCm39) missense probably benign 0.15
R7192:H2-M10.3 UTSW 17 36,677,451 (GRCm39) missense probably damaging 1.00
R7515:H2-M10.3 UTSW 17 36,677,435 (GRCm39) missense probably damaging 1.00
R7884:H2-M10.3 UTSW 17 36,677,174 (GRCm39) missense probably benign 0.38
R9198:H2-M10.3 UTSW 17 36,678,919 (GRCm39) missense probably damaging 1.00
R9487:H2-M10.3 UTSW 17 36,677,423 (GRCm39) missense probably benign 0.42
Z1177:H2-M10.3 UTSW 17 36,678,436 (GRCm39) missense probably damaging 1.00
Z1177:H2-M10.3 UTSW 17 36,677,471 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02