Incidental Mutation 'IGL03278:H2-M10.6'
List |< first << previous [record 16 of 40] next >> last >|
ID415477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.6
Ensembl Gene ENSMUSG00000037130
Gene Namehistocompatibility 2, M region locus 10.6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03278
Quality Score
Status
Chromosome17
Chromosomal Location36812171-36815564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36813823 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 211 (H211N)
Ref Sequence ENSEMBL: ENSMUSP00000039908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041398]
Predicted Effect probably damaging
Transcript: ENSMUST00000041398
AA Change: H211N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: H211N

DomainStartEndE-ValueType
Pfam:MHC_I 24 202 2.2e-47 PFAM
IGc1 221 292 9.31e-22 SMART
transmembrane domain 305 327 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 A T 5: 114,745,580 probably null Het
Git2 C A 5: 114,745,579 probably benign Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in H2-M10.6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:H2-M10.6 APN 17 36812220 missense probably benign 0.13
IGL01590:H2-M10.6 APN 17 36812749 missense probably benign 0.05
IGL03200:H2-M10.6 APN 17 36814016 missense probably damaging 1.00
R0018:H2-M10.6 UTSW 17 36814049 missense probably damaging 1.00
R0144:H2-M10.6 UTSW 17 36812241 missense probably damaging 0.99
R0194:H2-M10.6 UTSW 17 36814042 missense probably damaging 1.00
R1168:H2-M10.6 UTSW 17 36813160 missense probably benign
R1757:H2-M10.6 UTSW 17 36813151 missense probably benign 0.00
R1773:H2-M10.6 UTSW 17 36812184 missense probably benign 0.00
R2029:H2-M10.6 UTSW 17 36813907 missense possibly damaging 0.47
R3409:H2-M10.6 UTSW 17 36814001 missense probably damaging 1.00
R3856:H2-M10.6 UTSW 17 36812504 missense probably benign 0.18
R4373:H2-M10.6 UTSW 17 36813066 missense probably damaging 1.00
R4869:H2-M10.6 UTSW 17 36812533 missense probably benign 0.04
R5684:H2-M10.6 UTSW 17 36813854 missense probably damaging 1.00
R6020:H2-M10.6 UTSW 17 36813067 missense probably damaging 1.00
R6180:H2-M10.6 UTSW 17 36814286 missense probably damaging 1.00
R6328:H2-M10.6 UTSW 17 36813944 missense probably damaging 0.96
R8245:H2-M10.6 UTSW 17 36813263 critical splice donor site probably null
Posted On2016-08-02