Incidental Mutation 'IGL02486:2010106E10Rik'
ID 295431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2010106E10Rik
Ensembl Gene ENSMUSG00000025528
Gene Name RIKEN cDNA 2010106E10 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.028) question?
Stock # IGL02486
Quality Score
Status
Chromosome X
Chromosomal Location 111404971-111468040 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111424955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 147 (N147K)
Ref Sequence ENSEMBL: ENSMUSP00000109039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026602] [ENSMUST00000113412]
AlphaFold A2ANY3
Predicted Effect probably benign
Transcript: ENSMUST00000026602
AA Change: N147K

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026602
Gene: ENSMUSG00000025528
AA Change: N147K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 87 109 N/A INTRINSIC
low complexity region 241 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113412
AA Change: N147K

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109039
Gene: ENSMUSG00000025528
AA Change: N147K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neuregulin 88 206 6.5e-8 PFAM
low complexity region 251 265 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 C A 10: 85,476,419 (GRCm39) P900H probably damaging Het
Bcas1 T C 2: 170,248,318 (GRCm39) D201G probably damaging Het
Bmp1 T A 14: 70,742,216 (GRCm39) D333V possibly damaging Het
Capn6 T C X: 142,587,673 (GRCm39) E535G probably benign Het
Cdin1 T C 2: 115,607,487 (GRCm39) V280A possibly damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Col14a1 T A 15: 55,252,092 (GRCm39) probably benign Het
Daam1 T C 12: 71,993,919 (GRCm39) probably benign Het
Elapor2 T A 5: 9,472,323 (GRCm39) V340E probably benign Het
Eno4 A G 19: 58,934,097 (GRCm39) probably null Het
Fat1 T C 8: 45,478,109 (GRCm39) V2385A probably benign Het
Ffar4 T C 19: 38,102,208 (GRCm39) I281T possibly damaging Het
Flcn C T 11: 59,691,869 (GRCm39) W260* probably null Het
Fry T G 5: 150,414,642 (GRCm39) S496A probably damaging Het
Gk T A X: 84,759,274 (GRCm39) I373F possibly damaging Het
Gpr108 T C 17: 57,542,977 (GRCm39) N528S probably damaging Het
Hey1 T A 3: 8,731,579 (GRCm39) R50W probably damaging Het
Hgf A G 5: 16,807,287 (GRCm39) Y393C probably damaging Het
Hmcn2 A T 2: 31,310,107 (GRCm39) E3260D probably damaging Het
Ift172 A G 5: 31,414,927 (GRCm39) I1365T probably damaging Het
Letmd1 A G 15: 100,372,992 (GRCm39) R31G probably damaging Het
Mak16 T C 8: 31,650,614 (GRCm39) probably benign Het
Mapkapk3 C T 9: 107,166,467 (GRCm39) G26D probably damaging Het
Mphosph8 T C 14: 56,925,844 (GRCm39) V603A possibly damaging Het
Myom1 G T 17: 71,406,939 (GRCm39) probably benign Het
Neb T A 2: 52,172,615 (GRCm39) N1564I possibly damaging Het
Nox1 C T X: 132,993,560 (GRCm39) G433D probably damaging Het
Or11h6 T C 14: 50,880,089 (GRCm39) F111S probably damaging Het
Or2n1b T A 17: 38,460,112 (GRCm39) L211Q probably damaging Het
Or51i2 T C 7: 103,689,617 (GRCm39) S205P probably damaging Het
Or52m1 A T 7: 102,289,627 (GRCm39) H58L probably damaging Het
Rcc2 T C 4: 140,437,673 (GRCm39) W135R probably damaging Het
Rgl2 A G 17: 34,154,954 (GRCm39) I205V probably damaging Het
Robo4 G A 9: 37,319,670 (GRCm39) G640E probably damaging Het
Slc26a5 A G 5: 22,051,323 (GRCm39) F64L probably damaging Het
Slc27a2 A G 2: 126,395,270 (GRCm39) T66A probably benign Het
St18 T C 1: 6,890,307 (GRCm39) S580P probably damaging Het
Syt15 G A 14: 33,944,933 (GRCm39) R160K probably damaging Het
Tmem63b A G 17: 45,984,909 (GRCm39) S200P probably damaging Het
Tnks T A 8: 35,318,352 (GRCm39) N841I probably damaging Het
Tnr G A 1: 159,679,664 (GRCm39) probably null Het
Unc13d A G 11: 115,960,632 (GRCm39) probably benign Het
Usp4 T C 9: 108,228,228 (GRCm39) L74P probably damaging Het
Other mutations in 2010106E10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3693:2010106E10Rik UTSW X 111,466,012 (GRCm39) missense probably damaging 0.96
R3695:2010106E10Rik UTSW X 111,466,012 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16