Incidental Mutation 'IGL01490:H2-M10.2'
ID 88814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.2
Ensembl Gene ENSMUSG00000023083
Gene Name histocompatibility 2, M region locus 10.2
Synonyms 4.7H
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL01490
Quality Score
Status
Chromosome 17
Chromosomal Location 36595173-36597313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36596377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 156 (T156K)
Ref Sequence ENSEMBL: ENSMUSP00000023845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023845]
AlphaFold Q85ZW9
Predicted Effect probably damaging
Transcript: ENSMUST00000023845
AA Change: T156K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023845
Gene: ENSMUSG00000023083
AA Change: T156K

DomainStartEndE-ValueType
Pfam:MHC_I 23 201 6.5e-50 PFAM
IGc1 220 291 1.32e-21 SMART
transmembrane domain 304 326 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,023 (GRCm39) Y2131C probably damaging Het
Ano6 T A 15: 95,846,291 (GRCm39) S510T probably benign Het
Asb16 A T 11: 102,167,575 (GRCm39) N314Y probably damaging Het
Atp6v0b G A 4: 117,742,303 (GRCm39) Q150* probably null Het
Chct1 A G 11: 85,069,138 (GRCm39) D52G probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr2 T C 1: 63,222,455 (GRCm39) Y260C probably damaging Het
Crim1 A G 17: 78,642,725 (GRCm39) D481G possibly damaging Het
Dnajb2 T C 1: 75,213,534 (GRCm39) S3P probably damaging Het
Dnajb9 A T 12: 44,253,869 (GRCm39) S179R possibly damaging Het
Dock2 A T 11: 34,596,608 (GRCm39) I416N probably damaging Het
Dock7 G T 4: 98,833,355 (GRCm39) probably benign Het
Eif6 T C 2: 155,668,102 (GRCm39) I46V probably benign Het
Fcgr1 T C 3: 96,191,686 (GRCm39) D374G probably benign Het
Gatad2b A G 3: 90,259,385 (GRCm39) I374V possibly damaging Het
Gfpt2 T C 11: 49,717,954 (GRCm39) probably benign Het
Il20rb T A 9: 100,355,207 (GRCm39) I79F probably damaging Het
Kcnip3 C T 2: 127,352,799 (GRCm39) R44H probably benign Het
Lama1 A T 17: 68,057,579 (GRCm39) D551V possibly damaging Het
Mex3b C A 7: 82,519,035 (GRCm39) P450Q possibly damaging Het
Mmp20 T C 9: 7,628,330 (GRCm39) L26P probably benign Het
Msh3 G A 13: 92,436,813 (GRCm39) T499M probably damaging Het
Myo18b T C 5: 112,957,566 (GRCm39) S1466G possibly damaging Het
Myom3 A G 4: 135,538,089 (GRCm39) R1324G possibly damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Ptpn6 T A 6: 124,705,307 (GRCm39) E208V probably damaging Het
Qpct T C 17: 79,397,169 (GRCm39) V354A probably benign Het
Rfx4 A G 10: 84,676,715 (GRCm39) I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 (GRCm39) probably benign Het
Trappc12 A T 12: 28,796,914 (GRCm39) I206N probably damaging Het
Vmn1r173 A T 7: 23,402,132 (GRCm39) K122N probably benign Het
Wdr35 G T 12: 9,027,381 (GRCm39) G54V probably damaging Het
Zfyve26 A T 12: 79,291,147 (GRCm39) C2153S probably damaging Het
Other mutations in H2-M10.2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:H2-M10.2 APN 17 36,597,288 (GRCm39) missense probably damaging 0.99
IGL02347:H2-M10.2 APN 17 36,596,505 (GRCm39) missense probably benign 0.00
IGL02884:H2-M10.2 APN 17 36,595,568 (GRCm39) missense probably damaging 1.00
IGL03244:H2-M10.2 APN 17 36,596,463 (GRCm39) missense probably benign 0.33
R0383:H2-M10.2 UTSW 17 36,595,253 (GRCm39) missense probably benign 0.04
R1756:H2-M10.2 UTSW 17 36,597,015 (GRCm39) splice site probably benign
R1803:H2-M10.2 UTSW 17 36,596,763 (GRCm39) missense probably benign
R2496:H2-M10.2 UTSW 17 36,596,771 (GRCm39) missense possibly damaging 0.93
R3816:H2-M10.2 UTSW 17 36,597,254 (GRCm39) nonsense probably null
R4597:H2-M10.2 UTSW 17 36,596,285 (GRCm39) missense probably benign 0.07
R4832:H2-M10.2 UTSW 17 36,595,219 (GRCm39) missense probably damaging 0.99
R5200:H2-M10.2 UTSW 17 36,595,641 (GRCm39) missense probably benign 0.17
R5325:H2-M10.2 UTSW 17 36,596,471 (GRCm39) missense probably benign 0.00
R7443:H2-M10.2 UTSW 17 36,596,945 (GRCm39) missense probably benign
R8064:H2-M10.2 UTSW 17 36,595,442 (GRCm39) missense probably damaging 1.00
R8894:H2-M10.2 UTSW 17 36,595,555 (GRCm39) missense possibly damaging 0.65
R9420:H2-M10.2 UTSW 17 36,595,643 (GRCm39) missense probably benign 0.01
R9489:H2-M10.2 UTSW 17 36,596,936 (GRCm39) missense probably benign 0.04
Posted On 2013-11-18