Incidental Mutation 'IGL02323:H2-M9'
ID288312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M9
Ensembl Gene ENSMUSG00000067201
Gene Namehistocompatibility 2, M region locus 9
SynonymsM9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL02323
Quality Score
Status
Chromosome17
Chromosomal Location36639285-36642666 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36640741 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 281 (Y281N)
Ref Sequence ENSEMBL: ENSMUSP00000084411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087165] [ENSMUST00000087167]
Predicted Effect probably benign
Transcript: ENSMUST00000087165
SMART Domains Protein: ENSMUSP00000084409
Gene: ENSMUSG00000067201

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 25 203 2.4e-45 PFAM
transmembrane domain 216 238 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000087167
AA Change: Y281N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
AA Change: Y281N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 25 203 5.3e-44 PFAM
IGc1 222 293 5.73e-22 SMART
transmembrane domain 308 330 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,291,064 E344G probably damaging Het
Actrt2 T C 4: 154,666,798 T294A probably benign Het
Afg1l C A 10: 42,454,510 E54* probably null Het
Ahi1 T C 10: 20,972,034 I447T probably damaging Het
Akap6 T C 12: 53,140,429 I1542T probably benign Het
Ankrd34c A C 9: 89,729,980 S103A possibly damaging Het
Apc C T 18: 34,315,810 Q1886* probably null Het
Bcas3 A G 11: 85,495,845 T148A probably damaging Het
Bud13 A G 9: 46,283,052 T8A probably benign Het
Casr A T 16: 36,509,710 Y421N probably damaging Het
Cd163l1 G T 7: 140,228,659 A828S probably benign Het
Clasp2 T C 9: 113,868,726 probably benign Het
Clca4b T C 3: 144,913,321 T686A probably benign Het
Cntln T A 4: 85,049,789 H748Q probably benign Het
D430042O09Rik T A 7: 125,842,829 S637T probably benign Het
Dmtf1 A T 5: 9,120,056 D683E possibly damaging Het
Dnmt3l A G 10: 78,063,318 K117R probably damaging Het
Eif2a T C 3: 58,548,603 M341T possibly damaging Het
Epg5 T A 18: 78,012,832 Y1740* probably null Het
Fam149b C T 14: 20,363,301 T157I possibly damaging Het
Fam89b A G 19: 5,728,871 probably null Het
Fbxo3 T A 2: 104,047,951 N232K probably benign Het
Gm5415 A T 1: 32,545,704 L375* probably null Het
Gm6588 A G 5: 112,449,734 Y49C probably benign Het
Gnl3 A C 14: 31,017,402 H16Q probably damaging Het
Gpld1 T G 13: 24,982,774 V669G probably damaging Het
Grik3 A G 4: 125,685,990 probably benign Het
Gzmg A C 14: 56,157,272 Y180D probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mrs2 T A 13: 25,004,957 I125F probably damaging Het
Nfam1 T A 15: 83,022,951 N15I probably benign Het
Nol8 T A 13: 49,655,245 probably benign Het
Obscn A G 11: 59,008,522 V6483A possibly damaging Het
Olfr444 A T 6: 42,955,983 I162F probably benign Het
Osbpl3 A G 6: 50,346,326 probably null Het
Pla2g16 G A 19: 7,574,992 W24* probably null Het
Ppfibp2 A T 7: 107,738,629 Q652H probably damaging Het
Rbm47 A G 5: 66,026,429 V277A probably damaging Het
Robo3 G A 9: 37,422,201 A716V probably benign Het
Slc29a4 A G 5: 142,717,652 E227G probably damaging Het
Slf1 T C 13: 77,051,294 D656G possibly damaging Het
Sox1 A G 8: 12,396,692 H111R possibly damaging Het
Svep1 G A 4: 58,070,236 Q2517* probably null Het
Syndig1 G T 2: 149,899,787 V98L probably benign Het
Synpo2 T C 3: 123,117,534 E154G probably benign Het
Tex37 A G 6: 70,913,695 probably benign Het
Tkt G A 14: 30,571,035 G490S possibly damaging Het
Tmem200a T C 10: 25,993,430 N314D probably benign Het
Tnfaip8l1 A T 17: 56,172,009 T100S probably damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trim12c C T 7: 104,348,266 A28T probably benign Het
Trpc7 C A 13: 56,783,751 V595L possibly damaging Het
Ttc39c A G 18: 12,736,743 R575G probably null Het
Ttn T G 2: 76,851,575 probably benign Het
Ttn C T 2: 76,723,265 V31003M probably damaging Het
Ugt2b37 A T 5: 87,250,564 probably benign Het
Uqcrb A T 13: 66,902,810 probably benign Het
Usp33 T A 3: 152,370,387 W415R probably benign Het
Vmn2r110 A T 17: 20,596,137 D41E probably damaging Het
Vmn2r98 A T 17: 19,065,851 I204F probably damaging Het
Other mutations in H2-M9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01808:H2-M9 APN 17 36641819 splice site probably null
IGL02133:H2-M9 APN 17 36641737 missense possibly damaging 0.95
IGL02957:H2-M9 APN 17 36642157 missense probably benign 0.00
IGL03127:H2-M9 APN 17 36640822 missense possibly damaging 0.48
R0025:H2-M9 UTSW 17 36641755 missense probably damaging 1.00
R0026:H2-M9 UTSW 17 36641527 splice site probably benign
R0926:H2-M9 UTSW 17 36641773 missense probably damaging 0.98
R1171:H2-M9 UTSW 17 36641653 missense probably benign 0.14
R1264:H2-M9 UTSW 17 36642592 missense probably benign
R1995:H2-M9 UTSW 17 36641786 missense probably damaging 1.00
R4622:H2-M9 UTSW 17 36641824 splice site probably null
R4737:H2-M9 UTSW 17 36640739 nonsense probably null
R4808:H2-M9 UTSW 17 36640792 missense probably damaging 0.99
R5176:H2-M9 UTSW 17 36641631 missense probably damaging 0.98
R6756:H2-M9 UTSW 17 36642335 missense probably damaging 1.00
R6785:H2-M9 UTSW 17 36642233 missense probably damaging 0.99
X0018:H2-M9 UTSW 17 36641722 missense probably benign 0.01
Posted On2015-04-16