Incidental Mutation 'IGL02237:Gm28042'
ID285931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28042
Ensembl Gene ENSMUSG00000033852
Gene Namepredicted gene, 28042
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.318) question?
Stock #IGL02237
Quality Score
Status
Chromosome2
Chromosomal Location120027493-120043033 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 120039899 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Valine at position 743 (L743V)
Ref Sequence ENSEMBL: ENSMUSP00000117535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126150] [ENSMUST00000129685] [ENSMUST00000156805] [ENSMUST00000162393]
Predicted Effect probably benign
Transcript: ENSMUST00000125805
SMART Domains Protein: ENSMUSP00000122869
Gene: ENSMUSG00000033852

DomainStartEndE-ValueType
Pfam:Cupin_8 2 62 2.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126150
AA Change: L520V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: L520V

DomainStartEndE-ValueType
C2 19 119 1.79e-17 SMART
PLAc 233 789 1.99e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129685
AA Change: L743V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: L743V

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 308 1.65e-4 SMART
C2 242 342 1.79e-17 SMART
PLAc 456 1012 1.99e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156159
SMART Domains Protein: ENSMUSP00000115974
Gene: ENSMUSG00000074899

DomainStartEndE-ValueType
SPEC 60 160 2.54e-6 SMART
SPEC 166 266 1.32e-13 SMART
SPEC 272 372 4.41e-15 SMART
SPEC 378 477 1.56e-15 SMART
SPEC 483 583 1.11e-11 SMART
SPEC 589 689 8.47e-26 SMART
SPEC 695 795 5.56e-12 SMART
SPEC 801 902 7.01e-9 SMART
SPEC 908 1032 4.44e-1 SMART
SPEC 1038 1138 3.73e-13 SMART
Pfam:Spectrin 1141 1206 2.2e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156805
AA Change: L743V

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: L743V

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 308 1.65e-4 SMART
C2 242 342 1.79e-17 SMART
PLAc 456 892 8.56e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162393
SMART Domains Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 242 4.42e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This locus represents naturally-occurring readthrough transcription between the neighboring Jmjd7 (jumonji domain containing 7) and Pla2g4b (phospholipase A2, group IVB (cytosolic)) genes on chromosome 2. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T A 2: 181,493,557 V84E probably benign Het
Adam39 A T 8: 40,825,445 E291V probably benign Het
Ak5 T A 3: 152,499,343 D372V probably benign Het
Brpf1 C T 6: 113,310,375 P188L probably damaging Het
Cacna2d3 C T 14: 29,346,997 V258I probably benign Het
Cd14 A G 18: 36,725,859 F181S probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cts6 A T 13: 61,197,499 D261E probably benign Het
Daam1 A G 12: 71,982,721 T897A probably benign Het
Ddx25 T A 9: 35,542,069 probably benign Het
Ddx55 A G 5: 124,567,895 E461G probably damaging Het
Degs1 T C 1: 182,279,688 K2R probably damaging Het
Drc7 C T 8: 95,072,879 L561F probably damaging Het
Eif4enif1 A T 11: 3,227,876 K423* probably null Het
Epha7 A G 4: 28,949,325 probably null Het
Erich5 A C 15: 34,471,336 E237A probably benign Het
Ficd A G 5: 113,738,312 T183A probably damaging Het
Foxb2 T C 19: 16,873,544 M33V unknown Het
Gja8 T G 3: 96,919,933 S138R probably benign Het
Gtf3c2 A T 5: 31,159,053 probably benign Het
Itga11 T C 9: 62,755,775 probably null Het
Kazn A T 4: 142,147,099 D315E probably benign Het
Kbtbd2 A T 6: 56,779,048 S568T possibly damaging Het
Man1c1 A C 4: 134,584,298 probably null Het
Myh9 A G 15: 77,786,654 S463P probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Oog2 T A 4: 144,196,446 F427Y possibly damaging Het
Pcmtd1 T C 1: 7,163,377 probably null Het
Pcnt C A 10: 76,352,984 D2861Y probably damaging Het
Pdzd7 C T 19: 45,040,258 A149T probably damaging Het
Pebp4 A T 14: 70,059,656 T215S possibly damaging Het
Pgm2 T C 4: 99,963,510 probably benign Het
Plekhh2 T A 17: 84,575,785 D760E probably benign Het
Pomt1 T C 2: 32,245,677 I351T probably benign Het
Ptpn21 C T 12: 98,705,092 probably null Het
Rsad2 T G 12: 26,456,187 Y78S probably damaging Het
Rsbn1l A T 5: 20,919,606 N399K probably benign Het
Sec31a A G 5: 100,362,055 V1191A probably damaging Het
Sema6c C T 3: 95,170,119 P414L probably damaging Het
Serpinb5 T C 1: 106,880,326 S69P probably benign Het
Slc25a13 C T 6: 6,042,646 R586H probably damaging Het
Spink5 T A 18: 44,012,867 M776K probably benign Het
Srcap A G 7: 127,534,692 probably benign Het
Stt3a G A 9: 36,749,637 Q293* probably null Het
Syne4 T A 7: 30,316,563 probably null Het
Tomm40l C T 1: 171,220,894 V97M possibly damaging Het
Trpc4 C T 3: 54,222,362 S183F probably damaging Het
Ttn C T 2: 76,886,134 probably benign Het
Ufl1 A C 4: 25,269,082 S170A probably benign Het
Vmn2r66 G A 7: 84,994,700 T834I probably benign Het
Vmn2r75 A G 7: 86,165,578 S236P possibly damaging Het
Zfp345 A T 2: 150,474,885 probably benign Het
Zfp955b T C 17: 33,301,919 S121P probably damaging Het
Other mutations in Gm28042
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Gm28042 APN 2 120030356 missense probably damaging 1.00
IGL01148:Gm28042 APN 2 120039038 missense possibly damaging 0.74
IGL02005:Gm28042 APN 2 120034634 missense possibly damaging 0.95
IGL02539:Gm28042 APN 2 120035221 missense probably damaging 1.00
IGL02747:Gm28042 APN 2 120031394 missense probably damaging 1.00
IGL02825:Gm28042 APN 2 120031644 missense probably damaging 0.99
IGL02998:Gm28042 APN 2 120040154 missense possibly damaging 0.70
IGL03057:Gm28042 APN 2 120032156 missense probably damaging 1.00
IGL03084:Gm28042 APN 2 120040505 missense probably benign 0.08
IGL03160:Gm28042 APN 2 120035828 missense possibly damaging 0.94
PIT4520001:Gm28042 UTSW 2 120039667 nonsense probably null
R0147:Gm28042 UTSW 2 120036463 missense probably benign 0.00
R0270:Gm28042 UTSW 2 120041592 missense probably benign 0.06
R0315:Gm28042 UTSW 2 120039057 missense probably damaging 1.00
R1421:Gm28042 UTSW 2 120036463 missense probably benign 0.00
R1589:Gm28042 UTSW 2 120041406 missense probably benign 0.05
R1599:Gm28042 UTSW 2 120036463 missense probably benign 0.00
R1656:Gm28042 UTSW 2 120038889 missense probably damaging 1.00
R1718:Gm28042 UTSW 2 120036391 missense possibly damaging 0.78
R1969:Gm28042 UTSW 2 120041615 makesense probably null
R2164:Gm28042 UTSW 2 120036748 missense probably benign 0.01
R2275:Gm28042 UTSW 2 120036829 missense probably damaging 1.00
R3976:Gm28042 UTSW 2 120036756 missense probably benign 0.11
R4483:Gm28042 UTSW 2 120035840 missense possibly damaging 0.68
R4614:Gm28042 UTSW 2 120041158 missense probably damaging 0.99
R4802:Gm28042 UTSW 2 120042054 utr 3 prime probably benign
R4976:Gm28042 UTSW 2 120034643 missense probably damaging 1.00
R5119:Gm28042 UTSW 2 120034643 missense probably damaging 1.00
R5177:Gm28042 UTSW 2 120041601 unclassified probably null
R5340:Gm28042 UTSW 2 120041448 missense probably benign
R5861:Gm28042 UTSW 2 120034635 missense probably damaging 1.00
R6641:Gm28042 UTSW 2 120039683 missense probably damaging 1.00
R7187:Gm28042 UTSW 2 120039695 missense probably damaging 1.00
X0019:Gm28042 UTSW 2 120039658 missense probably damaging 1.00
Posted On2015-04-16