Incidental Mutation 'IGL01684:BC024139'
ID103903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC024139
Ensembl Gene ENSMUSG00000044361
Gene NamecDNA sequence BC024139
Synonyms6230424I18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01684
Quality Score
Status
Chromosome15
Chromosomal Location76119517-76126596 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76124685 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 283 (L283P)
Ref Sequence ENSEMBL: ENSMUSP00000087082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054022] [ENSMUST00000089654] [ENSMUST00000146157] [ENSMUST00000226781]
Predicted Effect probably damaging
Transcript: ENSMUST00000054022
AA Change: L283P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: L283P

DomainStartEndE-ValueType
low complexity region 61 79 N/A INTRINSIC
SPEC 91 177 8.82e-1 SMART
SPEC 184 283 2.74e-2 SMART
coiled coil region 314 337 N/A INTRINSIC
low complexity region 469 485 N/A INTRINSIC
Pfam:GAS2 672 701 3.9e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089654
AA Change: L283P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
AA Change: L283P

DomainStartEndE-ValueType
low complexity region 61 79 N/A INTRINSIC
SPEC 91 177 8.82e-1 SMART
SPEC 184 283 2.74e-2 SMART
coiled coil region 314 337 N/A INTRINSIC
low complexity region 469 485 N/A INTRINSIC
Pfam:GAS2 671 703 3.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126892
Predicted Effect probably damaging
Transcript: ENSMUST00000146157
AA Change: L283P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
AA Change: L283P

DomainStartEndE-ValueType
low complexity region 61 79 N/A INTRINSIC
SPEC 91 177 8.82e-1 SMART
SPEC 184 283 2.74e-2 SMART
coiled coil region 314 337 N/A INTRINSIC
low complexity region 469 485 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226663
Predicted Effect probably benign
Transcript: ENSMUST00000226781
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,771,768 V21F probably damaging Het
Aox1 G A 1: 58,077,581 probably null Het
Cacna1h C T 17: 25,388,716 G876S probably damaging Het
Ccdc66 T C 14: 27,500,249 E179G possibly damaging Het
Ckap5 T G 2: 91,555,354 D182E probably benign Het
Clk1 A G 1: 58,417,265 probably null Het
Dhx34 G A 7: 16,203,279 T831M probably damaging Het
Enox1 T C 14: 77,579,093 I171T possibly damaging Het
Fscn2 G A 11: 120,367,305 R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 S460L probably benign Het
Gramd1a A G 7: 31,138,905 S308P possibly damaging Het
Guca1a T C 17: 47,395,143 D137G probably null Het
Heatr5a G A 12: 51,955,511 T214I probably benign Het
Klf7 T C 1: 64,120,892 probably benign Het
Macf1 A G 4: 123,465,930 S1854P probably damaging Het
Mau2 A T 8: 70,029,245 probably benign Het
Mdn1 A G 4: 32,726,857 I2639V probably benign Het
Mylk A G 16: 34,971,940 M1544V possibly damaging Het
Ogdh G T 11: 6,342,546 V420L probably damaging Het
Olfr1458 A G 19: 13,102,989 F105S possibly damaging Het
Olfr532 T C 7: 140,418,915 N286S probably damaging Het
Pcm1 A G 8: 41,257,923 T77A probably benign Het
Piezo2 T A 18: 63,083,170 I947F probably damaging Het
Prrc2c A T 1: 162,706,462 probably benign Het
Ptch2 A G 4: 117,104,787 E107G probably damaging Het
Rmdn3 T C 2: 119,147,574 E182G probably damaging Het
Rpl23a-ps3 C T 14: 34,170,788 noncoding transcript Het
Sorl1 T C 9: 41,980,711 D1881G probably damaging Het
Tbc1d19 A G 5: 53,856,879 N283S probably benign Het
Tcf20 A G 15: 82,857,160 F30S probably damaging Het
Tiparp A T 3: 65,553,333 K581I probably damaging Het
Tle3 T C 9: 61,403,446 probably benign Het
Ubr3 C A 2: 70,016,158 Y1608* probably null Het
Vmn1r59 T C 7: 5,454,300 T154A probably benign Het
Vta1 A G 10: 14,684,131 I115T probably damaging Het
Wwtr1 C A 3: 57,575,789 R31L probably damaging Het
Zfp385b T C 2: 77,719,675 D22G possibly damaging Het
Zfp516 A G 18: 82,957,201 E508G probably damaging Het
Zfp735 T A 11: 73,690,365 V76E possibly damaging Het
Other mutations in BC024139
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:BC024139 APN 15 76125100 missense probably benign 0.06
IGL01780:BC024139 APN 15 76121143 missense probably benign 0.01
IGL03084:BC024139 APN 15 76119807 missense probably benign 0.00
IGL03242:BC024139 APN 15 76120320 missense probably benign 0.32
IGL03386:BC024139 APN 15 76121745 missense probably benign 0.18
R0018:BC024139 UTSW 15 76120887 nonsense probably null
R0018:BC024139 UTSW 15 76120887 nonsense probably null
R0153:BC024139 UTSW 15 76121747 missense probably damaging 0.96
R0789:BC024139 UTSW 15 76121083 missense possibly damaging 0.51
R1158:BC024139 UTSW 15 76120342 unclassified probably benign
R1515:BC024139 UTSW 15 76124326 missense possibly damaging 0.83
R1840:BC024139 UTSW 15 76120642 missense probably benign
R1845:BC024139 UTSW 15 76125261 nonsense probably null
R2159:BC024139 UTSW 15 76121488 missense probably damaging 0.96
R2264:BC024139 UTSW 15 76125917 missense probably damaging 1.00
R2680:BC024139 UTSW 15 76121739 missense probably damaging 0.98
R2697:BC024139 UTSW 15 76120193 unclassified probably benign
R4113:BC024139 UTSW 15 76121627 missense probably benign 0.35
R4630:BC024139 UTSW 15 76125094 missense probably benign 0.23
R4825:BC024139 UTSW 15 76120317 missense possibly damaging 0.84
R4865:BC024139 UTSW 15 76126066 missense possibly damaging 0.56
R5208:BC024139 UTSW 15 76124665 missense probably benign 0.03
R5369:BC024139 UTSW 15 76120222 missense probably benign 0.02
R5371:BC024139 UTSW 15 76120686 makesense probably null
R5897:BC024139 UTSW 15 76126139 missense possibly damaging 0.84
R6110:BC024139 UTSW 15 76119796 missense probably benign
R6374:BC024139 UTSW 15 76120457 critical splice donor site probably null
R6823:BC024139 UTSW 15 76119746 makesense probably null
R6915:BC024139 UTSW 15 76120021 missense probably benign
X0066:BC024139 UTSW 15 76124002 missense probably benign
Posted On2014-01-21