Incidental Mutation 'IGL01748:Gm42688'
ID 153065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm42688
Ensembl Gene ENSMUSG00000079511
Gene Name predicted gene 42688
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01748
Quality Score
Status
Chromosome 6
Chromosomal Location 83078598-83086920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83080001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 275 (S275T)
Ref Sequence ENSEMBL: ENSMUSP00000098811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101253] [ENSMUST00000101254]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000101253
AA Change: S275T

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098811
Gene: ENSMUSG00000079511
AA Change: S275T

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
low complexity region 70 91 N/A INTRINSIC
low complexity region 102 118 N/A INTRINSIC
low complexity region 173 187 N/A INTRINSIC
low complexity region 238 263 N/A INTRINSIC
Pfam:CCDC142 286 714 1.6e-159 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101254
AA Change: S340T

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000098812
Gene: ENSMUSG00000107499
AA Change: S340T

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
low complexity region 70 91 N/A INTRINSIC
low complexity region 102 118 N/A INTRINSIC
low complexity region 173 187 N/A INTRINSIC
low complexity region 238 263 N/A INTRINSIC
Pfam:CCDC142 279 714 8.5e-174 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203533
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,420,206 (GRCm39) probably benign Het
Asb1 G A 1: 91,480,008 (GRCm39) V236I probably damaging Het
Bod1l G A 5: 41,974,304 (GRCm39) R2337C probably benign Het
Fermt3 A T 19: 6,980,834 (GRCm39) probably null Het
Foxred2 T C 15: 77,836,546 (GRCm39) D323G probably damaging Het
Fry A G 5: 150,269,116 (GRCm39) probably benign Het
Galnt11 T A 5: 25,452,513 (GRCm39) Y8* probably null Het
Grip2 C T 6: 91,741,724 (GRCm39) G934R probably damaging Het
Igkv1-122 G T 6: 67,994,456 (GRCm39) V115F possibly damaging Het
Iglon5 C T 7: 43,125,953 (GRCm39) probably benign Het
Nbl1 G T 4: 138,810,921 (GRCm39) probably benign Het
Nup107 A G 10: 117,593,179 (GRCm39) V833A probably benign Het
Or4k41 T C 2: 111,279,875 (GRCm39) L130P probably damaging Het
Psg18 T C 7: 18,087,476 (GRCm39) N61D probably benign Het
Rfng A G 11: 120,674,569 (GRCm39) M104T probably benign Het
Scn10a A G 9: 119,456,150 (GRCm39) F1224S probably damaging Het
Strn4 C T 7: 16,572,227 (GRCm39) P647S probably damaging Het
Tbc1d2 A G 4: 46,616,306 (GRCm39) V474A probably damaging Het
Trav13n-4 A T 14: 53,601,470 (GRCm39) T80S probably benign Het
Trrap A G 5: 144,770,150 (GRCm39) E2757G probably damaging Het
Vmn1r43 G T 6: 89,847,294 (GRCm39) T64N probably damaging Het
Vmn2r108 A T 17: 20,683,476 (GRCm39) I576N probably benign Het
Vmn2r65 A T 7: 84,589,507 (GRCm39) I803N probably damaging Het
Zfp341 T C 2: 154,470,847 (GRCm39) V288A probably damaging Het
Other mutations in Gm42688
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Gm42688 APN 6 83,080,373 (GRCm39) splice site probably benign
IGL02879:Gm42688 APN 6 83,084,125 (GRCm39) missense probably damaging 1.00
IGL03395:Gm42688 APN 6 83,085,352 (GRCm39) missense possibly damaging 0.88
Posted On 2014-02-04