Incidental Mutation 'IGL02879:Gm42688'
ID 362734
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 # IGL02879
Quality Score
Status
Chromosome 6
Chromosomal Location 83078598-83086920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83084125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 510 (Y510C)
Ref Sequence ENSEMBL: ENSMUSP00000098812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101253] [ENSMUST00000101254] [ENSMUST00000113938]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101253
AA Change: Y445C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098811
Gene: ENSMUSG00000079511
AA Change: Y445C

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 damaging
Transcript: ENSMUST00000101254
AA Change: Y510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098812
Gene: ENSMUSG00000107499
AA Change: Y510C

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 probably benign
Transcript: ENSMUST00000113938
SMART Domains Protein: ENSMUSP00000109571
Gene: ENSMUSG00000030037

DomainStartEndE-ValueType
Pfam:MRP_L53 20 71 2.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154457
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,659,966 (GRCm39) Y245C probably damaging Het
Asb3 G A 11: 31,051,067 (GRCm39) R507H probably damaging Het
Cacna1g A C 11: 94,300,431 (GRCm39) I2118S probably benign Het
Col3a1 A T 1: 45,380,119 (GRCm39) probably benign Het
Ecscr T C 18: 35,846,731 (GRCm39) N221S possibly damaging Het
Enpp4 T C 17: 44,412,841 (GRCm39) D231G probably benign Het
Fastkd5 A G 2: 130,456,341 (GRCm39) Y750H probably damaging Het
Gtse1 T C 15: 85,753,264 (GRCm39) probably benign Het
Il4ra A G 7: 125,176,069 (GRCm39) E759G possibly damaging Het
Itgb4 A G 11: 115,885,178 (GRCm39) D1019G probably benign Het
Kcnh1 T C 1: 191,959,223 (GRCm39) V259A probably damaging Het
Ksr1 G A 11: 78,965,270 (GRCm39) L15F probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Myh15 A T 16: 48,993,422 (GRCm39) T1686S possibly damaging Het
Neb A C 2: 52,146,697 (GRCm39) L2856V possibly damaging Het
Nkapd1 C T 9: 50,520,671 (GRCm39) probably null Het
Pcnx2 A T 8: 126,498,796 (GRCm39) C1568S probably damaging Het
Pld5 T A 1: 175,798,157 (GRCm39) K352I probably damaging Het
Prmt3 A G 7: 49,467,811 (GRCm39) D339G probably benign Het
Ptbp2 A G 3: 119,534,054 (GRCm39) Y272H probably damaging Het
Ptprb A G 10: 116,163,873 (GRCm39) D847G probably benign Het
Rin1 C T 19: 5,101,383 (GRCm39) T89I probably damaging Het
Runx1t1 T C 4: 13,889,868 (GRCm39) I599T unknown Het
Serinc3 A G 2: 163,474,172 (GRCm39) probably benign Het
Slc27a5 C T 7: 12,728,971 (GRCm39) probably benign Het
Terf2 C T 8: 107,803,329 (GRCm39) S417N probably benign Het
Tyw1 T C 5: 130,325,612 (GRCm39) V500A probably damaging Het
Upk1b G A 16: 38,596,640 (GRCm39) probably benign Het
Vmn1r81 C T 7: 11,994,319 (GRCm39) M96I probably benign Het
Vmn2r11 A T 5: 109,201,704 (GRCm39) Y267N possibly damaging Het
Other mutations in Gm42688
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Gm42688 APN 6 83,080,373 (GRCm39) splice site probably benign
IGL01748:Gm42688 APN 6 83,080,001 (GRCm39) missense possibly damaging 0.62
IGL03395:Gm42688 APN 6 83,085,352 (GRCm39) missense possibly damaging 0.88
Posted On 2015-12-18