Incidental Mutation 'IGL03229:Gm7030'
ID413802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm7030
Ensembl Gene ENSMUSG00000092243
Gene Namepredicted gene 7030
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL03229
Quality Score
Status
Chromosome17
Chromosomal Location36109719-36129425 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36127722 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 259 (G259E)
Ref Sequence ENSEMBL: ENSMUSP00000133734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000172968] [ENSMUST00000173128] [ENSMUST00000173322]
Predicted Effect probably damaging
Transcript: ENSMUST00000046131
AA Change: G259E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
AA Change: G259E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 2.3e-81 PFAM
IGc1 220 285 8.12e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172968
AA Change: G259E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243
AA Change: G259E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 1.5e-80 PFAM
IGc1 220 285 8.12e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173128
SMART Domains Protein: ENSMUSP00000134339
Gene: ENSMUSG00000092277

DomainStartEndE-ValueType
low complexity region 103 115 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173322
AA Change: G259E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243
AA Change: G259E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 2.3e-81 PFAM
IGc1 220 285 8.12e-13 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,940,936 I832T probably damaging Het
Adcyap1r1 T C 6: 55,478,123 S124P probably damaging Het
Coq4 A G 2: 29,788,485 D41G probably benign Het
Cpb1 A T 3: 20,249,837 Y354* probably null Het
Dip2b T C 15: 100,207,838 probably benign Het
Dmxl2 C T 9: 54,404,172 R1755H probably damaging Het
Dyrk4 G T 6: 126,886,642 probably benign Het
E2f7 T C 10: 110,754,346 V120A probably benign Het
Fsip2 A T 2: 82,978,076 I1580F possibly damaging Het
Gm9755 C A 8: 67,514,672 noncoding transcript Het
Gprc6a T G 10: 51,616,603 N480T probably damaging Het
Hdlbp T C 1: 93,430,187 I331V probably benign Het
Heatr6 G T 11: 83,781,445 G1093V probably benign Het
Hist2h2ac C T 3: 96,220,637 A70T probably damaging Het
Kri1 T C 9: 21,282,070 E162G probably damaging Het
Nckipsd T C 9: 108,811,614 V116A probably benign Het
Nek10 A G 14: 14,986,686 H997R probably benign Het
Nov A G 15: 54,749,308 T238A probably benign Het
Nxph1 A G 6: 9,247,830 Y267C probably damaging Het
Olfr1090 A T 2: 86,754,016 C241S probably damaging Het
Olfr294 T C 7: 86,616,078 D189G probably benign Het
Ppip5k2 A T 1: 97,728,961 V829E probably damaging Het
Prkcz A C 4: 155,262,506 S573A probably benign Het
Prl2c1 T A 13: 27,856,629 probably benign Het
Rgs22 T A 15: 36,015,779 probably benign Het
Scn1a T A 2: 66,299,713 I1253F probably damaging Het
Tarm1 A G 7: 3,496,897 C146R probably damaging Het
Tor2a A T 2: 32,759,692 I189F probably damaging Het
Trappc9 A T 15: 73,058,456 L17Q probably damaging Het
Trim45 T A 3: 100,923,069 L53Q probably damaging Het
Ubr7 T C 12: 102,769,155 L291P probably damaging Het
Unc79 T C 12: 103,134,539 V1878A probably damaging Het
Wdr90 T C 17: 25,845,463 probably benign Het
Xpnpep1 T C 19: 53,025,380 H42R probably benign Het
Zfp750 G A 11: 121,512,952 H366Y possibly damaging Het
Zmynd11 A G 13: 9,689,565 C462R probably damaging Het
Other mutations in Gm7030
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02997:Gm7030 APN 17 36127836 missense possibly damaging 0.81
IGL03154:Gm7030 APN 17 36127875 missense probably benign 0.01
IGL03170:Gm7030 APN 17 36128713 missense probably damaging 1.00
R0401:Gm7030 UTSW 17 36128705 missense probably damaging 0.99
R0666:Gm7030 UTSW 17 36127834 missense possibly damaging 0.56
R1981:Gm7030 UTSW 17 36128722 missense probably damaging 0.99
R1982:Gm7030 UTSW 17 36128722 missense probably damaging 0.99
R3110:Gm7030 UTSW 17 36129146 missense probably damaging 1.00
R3112:Gm7030 UTSW 17 36129146 missense probably damaging 1.00
R4811:Gm7030 UTSW 17 36127776 missense probably damaging 0.97
R5023:Gm7030 UTSW 17 36109415 unclassified probably benign
R5146:Gm7030 UTSW 17 36129015 missense probably damaging 1.00
R5802:Gm7030 UTSW 17 36111287 intron probably benign
R6628:Gm7030 UTSW 17 36129054 missense possibly damaging 0.49
R7123:Gm7030 UTSW 17 36127794 missense possibly damaging 0.82
R7244:Gm7030 UTSW 17 36127604 splice site probably null
R7880:Gm7030 UTSW 17 36127869 missense possibly damaging 0.59
R8118:Gm7030 UTSW 17 36127690 missense probably damaging 0.97
R8926:Gm7030 UTSW 17 36109734 critical splice acceptor site probably null
V1662:Gm7030 UTSW 17 36128931 missense probably benign 0.01
Posted On2016-08-02