Incidental Mutation 'R3409:H2-M10.6'
ID258440
Institutional Source Beutler Lab
Gene Symbol H2-M10.6
Ensembl Gene ENSMUSG00000037130
Gene Namehistocompatibility 2, M region locus 10.6
Synonyms
MMRRC Submission 040627-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R3409 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location36812171-36815564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36814001 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 270 (V270E)
Ref Sequence ENSEMBL: ENSMUSP00000039908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041398]
Predicted Effect probably damaging
Transcript: ENSMUST00000041398
AA Change: V270E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: V270E

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
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A G 5: 50,001,930 V326A probably damaging Het
AI429214 C T 8: 36,993,917 S73L probably benign Het
Atp13a4 G T 16: 29,413,749 T923K probably damaging Het
Ccdc150 A G 1: 54,356,773 D805G probably benign Het
Ccdc185 T G 1: 182,748,748 Q125H possibly damaging Het
Ccdc88a T A 11: 29,486,006 C10S probably damaging Het
Cpsf1 G T 15: 76,601,781 Y396* probably null Het
Dnpep A G 1: 75,316,626 V33A probably damaging Het
Fbn1 G A 2: 125,412,665 A226V possibly damaging Het
Frmd4a A T 2: 4,153,028 probably benign Het
Gipr A G 7: 19,159,794 V318A possibly damaging Het
Gsdmc4 A G 15: 63,892,046 S401P probably benign Het
Klhl7 G T 5: 24,138,321 V212L probably damaging Het
Krt10 C A 11: 99,387,261 R322L probably damaging Het
Lrrn4 A G 2: 132,879,861 L12P unknown Het
Mast2 C G 4: 116,310,910 E881Q possibly damaging Het
Nod1 G T 6: 54,944,917 R139S probably benign Het
Notch3 C T 17: 32,150,702 V772M possibly damaging Het
Nrxn1 G A 17: 90,208,367 T19M probably damaging Het
Nudcd1 T C 15: 44,420,811 M60V probably benign Het
Olfr1151 T A 2: 87,857,661 L162* probably null Het
Olfr1220 T C 2: 89,097,324 N201S possibly damaging Het
Olfr1231 A G 2: 89,303,373 F73S probably benign Het
Olfr1453 G C 19: 13,028,047 A94G probably benign Het
Olfr1510 T A 14: 52,410,361 R170S possibly damaging Het
Olfr25 T A 9: 38,330,344 S252R possibly damaging Het
Pcdhb6 A G 18: 37,335,892 E622G probably damaging Het
Pitrm1 G A 13: 6,578,481 A937T possibly damaging Het
Plxnb1 G A 9: 109,106,613 probably null Het
Ripk3 T G 14: 55,788,241 N54T probably damaging Het
Rpn2 C A 2: 157,290,652 A108E possibly damaging Het
Scaf11 A G 15: 96,414,864 V1432A probably damaging Het
Sec14l5 C T 16: 5,165,654 probably null Het
Serpina3n A G 12: 104,411,277 E263G possibly damaging Het
Six4 A G 12: 73,112,883 F101S probably damaging Het
Slc12a1 A G 2: 125,154,151 T75A probably benign Het
Slc26a9 T C 1: 131,763,944 S642P probably benign Het
Smu1 T C 4: 40,752,008 T183A probably benign Het
Sptb T G 12: 76,610,815 K1311Q possibly damaging Het
Tal2 A G 4: 53,785,843 N8S probably damaging Het
Tenm4 A G 7: 96,895,160 T2128A probably damaging Het
Tmem67 A T 4: 12,073,952 M288K probably benign Het
Ubr1 A C 2: 120,963,448 I85S probably benign Het
Vmn2r90 G T 17: 17,733,376 V601L probably benign Het
Zfhx4 C T 3: 5,403,358 P2859S 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
IGL03278:H2-M10.6 APN 17 36813823 missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGTGACCCACCATGTAAGACC -3'
(R):5'- GCCGATGAGAATTGCTATGATGG -3'

Sequencing Primer
(F):5'- CCACCATGTAAGACCTGAAGGG -3'
(R):5'- GGAGTCTGACCCTAGCTCTCAAC -3'
Posted On2015-01-23