Incidental Mutation 'IGL01160:Gm3238'
ID53790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3238
Ensembl Gene ENSMUSG00000095817
Gene Namepredicted gene 3238
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01160
Quality Score
Status
Chromosome10
Chromosomal Location77770633-77771325 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to A at 77770883 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000168298]
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000168298
AA Change: C148F
SMART Domains Protein: ENSMUSP00000130008
Gene: ENSMUSG00000095817
AA Change: C148F

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 5 56 4.5e-9 PFAM
Pfam:Keratin_B2_2 22 66 6.6e-10 PFAM
Pfam:Keratin_B2_2 108 155 9e-9 PFAM
Pfam:Keratin_B2_2 153 198 2e-6 PFAM
Pfam:Keratin_B2_2 183 230 2.6e-4 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Gm3238
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Gm3238 APN 10 77771292 unclassified probably benign
IGL02252:Gm3238 APN 10 77770857 intron probably benign
R6849:Gm3238 UTSW 10 77770910 intron probably benign
R7699:Gm3238 UTSW 10 77770635 makesense probably null
R7700:Gm3238 UTSW 10 77770635 makesense probably null
R8098:Gm3238 UTSW 10 77770640 missense unknown
Z1176:Gm3238 UTSW 10 77771024 missense unknown
Posted On2013-06-28