Incidental Mutation 'IGL03231:Gm28043'
ID413906
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 #IGL03231
Quality Score
Status
Chromosome17
Chromosomal Location29614876-29703359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29635942 bp
ZygosityHeterozygous
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]
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
2610507B11Rik A G 11: 78,268,702 T526A probably benign Het
9530053A07Rik A G 7: 28,153,722 E1478G possibly damaging Het
Abca9 A C 11: 110,155,268 F277V probably damaging Het
Arel1 T A 12: 84,934,310 T308S probably benign Het
Asic1 T A 15: 99,699,102 H548Q probably benign Het
B3galt1 T C 2: 68,118,603 Y221H probably damaging Het
Brs3 G T X: 57,045,444 C221F probably benign Het
C77080 C T 4: 129,223,681 V385I possibly damaging Het
Capn7 G A 14: 31,355,290 G322R probably damaging Het
Ccdc138 T C 10: 58,573,706 L619P probably damaging Het
Cdh22 C T 2: 165,116,206 V614I probably benign Het
Dnah5 C T 15: 28,311,148 R1758W probably damaging Het
Dr1 T C 5: 108,275,608 V87A probably benign Het
F830045P16Rik A G 2: 129,460,473 S400P probably damaging Het
Fyb2 T A 4: 104,986,263 Y353* probably null Het
Gsap T C 5: 21,229,166 V260A probably damaging Het
Kcnt2 A T 1: 140,534,002 probably benign Het
Magee2 A T X: 104,856,338 L236M probably damaging Het
Map4k3 A T 17: 80,597,675 V729E probably damaging Het
Myh13 A G 11: 67,351,991 E910G possibly damaging Het
Nbeal1 G T 1: 60,236,459 A651S probably benign Het
Nuak2 A T 1: 132,328,177 D188V probably damaging Het
Nup210l A G 3: 90,189,545 T1354A probably damaging Het
Olfr1494 A T 19: 13,749,385 Q93L probably benign Het
Pof1b C T X: 112,645,290 S506N possibly damaging Het
Prrt3 A G 6: 113,497,524 S246P possibly damaging Het
Rps6ka6 T A X: 111,450,321 T43S probably benign Het
Slc19a2 G T 1: 164,260,880 W98L probably damaging Het
Snap29 C T 16: 17,427,100 S195L probably benign Het
Stt3b C T 9: 115,243,994 G815S unknown Het
Tm9sf2 T G 14: 122,141,252 I256R possibly damaging Het
Tpbpb A T 13: 60,902,182 N44K probably damaging Het
Trim13 A G 14: 61,605,545 E337G probably benign Het
Trmt6 A T 2: 132,815,836 D33E probably benign Het
Trpm6 T A 19: 18,819,181 S800R probably benign Het
V1rd19 A G 7: 24,003,903 I265V probably benign Het
Xkrx A G X: 134,150,642 L420P probably damaging Het
Zfp618 T C 4: 63,094,479 Y167H probably damaging 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
IGL03118:Gm28043 APN 17 29634731 missense probably damaging 1.00
Posted On2016-08-02