Incidental Mutation 'IGL03231:Gm28043'
ID 413906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28043
Ensembl Gene ENSMUSG00000098374
Gene Name predicted gene, 28043
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03231
Quality Score
Status
Chromosome 17
Chromosomal Location 29833850-29922333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29854916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 457 (D457G)
Ref Sequence ENSEMBL: ENSMUSP00000024817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024817] [ENSMUST00000130871] [ENSMUST00000172485]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024817
AA Change: D457G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024817
Gene: ENSMUSG00000090083
AA Change: D457G

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: D457G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: D457G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,046,094 (GRCm39) F277V probably damaging Het
Arel1 T A 12: 84,981,084 (GRCm39) T308S probably benign Het
Asic1 T A 15: 99,596,983 (GRCm39) H548Q probably benign Het
B3galt1 T C 2: 67,948,947 (GRCm39) Y221H probably damaging Het
Bltp2 A G 11: 78,159,528 (GRCm39) T526A probably benign Het
Brs3 G T X: 56,090,804 (GRCm39) C221F probably benign Het
Capn7 G A 14: 31,077,247 (GRCm39) G322R probably damaging Het
Ccdc138 T C 10: 58,409,528 (GRCm39) L619P probably damaging Het
Cdh22 C T 2: 164,958,126 (GRCm39) V614I probably benign Het
Dnah5 C T 15: 28,311,294 (GRCm39) R1758W probably damaging Het
Dr1 T C 5: 108,423,474 (GRCm39) V87A probably benign Het
F830045P16Rik A G 2: 129,302,393 (GRCm39) S400P probably damaging Het
Fcgbpl1 A G 7: 27,853,147 (GRCm39) E1478G possibly damaging Het
Fyb2 T A 4: 104,843,460 (GRCm39) Y353* probably null Het
Gsap T C 5: 21,434,164 (GRCm39) V260A probably damaging Het
Kcnt2 A T 1: 140,461,740 (GRCm39) probably benign Het
Magee2 A T X: 103,899,944 (GRCm39) L236M probably damaging Het
Map4k3 A T 17: 80,905,104 (GRCm39) V729E probably damaging Het
Myh13 A G 11: 67,242,817 (GRCm39) E910G possibly damaging Het
Nbeal1 G T 1: 60,275,618 (GRCm39) A651S probably benign Het
Nhsl3 C T 4: 129,117,474 (GRCm39) V385I possibly damaging Het
Nuak2 A T 1: 132,255,915 (GRCm39) D188V probably damaging Het
Nup210l A G 3: 90,096,852 (GRCm39) T1354A probably damaging Het
Or10q1 A T 19: 13,726,749 (GRCm39) Q93L probably benign Het
Pof1b C T X: 111,554,987 (GRCm39) S506N possibly damaging Het
Prrt3 A G 6: 113,474,485 (GRCm39) S246P possibly damaging Het
Rps6ka6 T A X: 110,360,018 (GRCm39) T43S probably benign Het
Slc19a2 G T 1: 164,088,449 (GRCm39) W98L probably damaging Het
Snap29 C T 16: 17,244,964 (GRCm39) S195L probably benign Het
Stt3b C T 9: 115,073,062 (GRCm39) G815S unknown Het
Tm9sf2 T G 14: 122,378,664 (GRCm39) I256R possibly damaging Het
Tpbpb A T 13: 61,049,996 (GRCm39) N44K probably damaging Het
Trim13 A G 14: 61,842,994 (GRCm39) E337G probably benign Het
Trmt6 A T 2: 132,657,756 (GRCm39) D33E probably benign Het
Trpm6 T A 19: 18,796,545 (GRCm39) S800R probably benign Het
V1rd19 A G 7: 23,703,328 (GRCm39) I265V probably benign Het
Xkrx A G X: 133,051,391 (GRCm39) L420P probably damaging Het
Zfp618 T C 4: 63,012,716 (GRCm39) Y167H probably damaging Het
Other mutations in Gm28043
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01623:Gm28043 APN 17 29,895,222 (GRCm39) missense probably benign 0.04
IGL02100:Gm28043 APN 17 29,910,400 (GRCm39) critical splice donor site probably null
IGL03118:Gm28043 APN 17 29,853,705 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02