Incidental Mutation 'IGL03118:Gm28043'
ID409871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28043
Ensembl Gene ENSMUSG00000098374
Gene Namepredicted gene, 28043
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03118
Quality Score
Status
Chromosome17
Chromosomal Location29614876-29703359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 29634731 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 403 (E403A)
Ref Sequence ENSEMBL: ENSMUSP00000024817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024817] [ENSMUST00000130871] [ENSMUST00000172485]
Predicted Effect probably damaging
Transcript: ENSMUST00000024817
AA Change: E403A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024817
Gene: ENSMUSG00000090083
AA Change: E403A

DomainStartEndE-ValueType
FHA 37 92 5.55e-8 SMART
low complexity region 116 130 N/A INTRINSIC
low complexity region 299 317 N/A INTRINSIC
RING 406 443 3.64e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130871
AA Change: E403A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: E403A

DomainStartEndE-ValueType
FHA 37 92 5.55e-8 SMART
low complexity region 116 130 N/A INTRINSIC
low complexity region 299 317 N/A INTRINSIC
RING 406 443 3.64e-7 SMART
G_patch 524 570 1.93e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162417
Predicted Effect probably benign
Transcript: ENSMUST00000172485
SMART Domains Protein: ENSMUSP00000134697
Gene: ENSMUSG00000090083

DomainStartEndE-ValueType
Pfam:FHA 38 86 1.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172800
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Rnf8 (ring finger protein 8) and Cmtr1 (cap methyltransferase 1) genes on chromosome 17. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,400,450 G921S probably benign Het
Abca8b T C 11: 109,947,181 T1082A possibly damaging Het
AF366264 C T 8: 13,838,096 probably benign Het
B9d2 T C 7: 25,681,476 probably null Het
Bfsp1 T C 2: 143,827,333 E442G possibly damaging Het
Bpifb5 C T 2: 154,236,753 probably benign Het
Ccl1 A G 11: 82,178,070 I47T probably damaging Het
Cln3 T C 7: 126,575,397 I285V probably null Het
Cyp4a12b G T 4: 115,432,976 R242I possibly damaging Het
Dcc T C 18: 71,420,273 T771A probably benign Het
Erbb4 T C 1: 68,042,719 D1052G probably benign Het
Fcnb T C 2: 28,076,618 N301S probably benign Het
Gria4 A G 9: 4,793,804 probably benign Het
Ighv5-12 T A 12: 113,702,578 M1L probably benign Het
Il17rd A G 14: 27,093,395 probably null Het
Kcnn3 T A 3: 89,667,161 L660Q probably damaging Het
Lcor C T 19: 41,558,369 P131S probably damaging Het
Leng1 T C 7: 3,665,410 N13S probably damaging Het
Loxhd1 T C 18: 77,380,464 V827A probably damaging Het
Mapk13 A G 17: 28,777,735 Y208C probably benign Het
Mybpc3 T C 2: 91,124,503 V453A probably damaging Het
Odam T C 5: 87,885,754 S15P unknown Het
Olfr26 A T 9: 38,855,230 H56L probably damaging Het
Olfr323 A T 11: 58,625,443 V201D probably damaging Het
Pcdhb19 T C 18: 37,499,565 probably benign Het
Per2 G T 1: 91,444,619 Y244* probably null Het
Pik3ca A T 3: 32,459,935 I857F probably damaging Het
Pold1 T A 7: 44,539,400 I447F probably benign Het
Ppm1f T A 16: 16,914,078 W131R probably null Het
Ppp2r2c A G 5: 36,926,316 Y67C probably damaging Het
Psmb10 A T 8: 105,936,900 H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 A149V probably benign Het
Pygb T A 2: 150,820,811 V566E probably benign Het
Rictor G A 15: 6,759,518 R205Q possibly damaging Het
Ryr1 T A 7: 29,015,786 R4638W unknown Het
Sept3 G A 15: 82,284,514 probably null Het
Serpina3b A T 12: 104,131,054 D198V probably benign Het
Slc27a6 C A 18: 58,556,743 H94N probably benign Het
Taf2 C T 15: 55,052,163 V456M probably damaging Het
Tbpl2 T C 2: 24,087,289 E238G probably benign Het
Ttn C T 2: 76,754,207 V20440I possibly damaging Het
Zfp638 T A 6: 83,935,018 probably benign Het
Zfp865 T C 7: 5,034,645 probably benign Het
Other mutations in Gm28043
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01623:Gm28043 APN 17 29676248 missense probably benign 0.04
IGL02100:Gm28043 APN 17 29691426 critical splice donor site probably null
IGL03231:Gm28043 APN 17 29635942 missense probably damaging 1.00
Posted On2016-08-02