Incidental Mutation 'R3695:2010106E10Rik'
ID 268965
Institutional Source Beutler Lab
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 # R3695 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 111404971-111468040 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111466012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 187 (L187F)
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: L177F

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000026602
Gene: ENSMUSG00000025528
AA Change: L177F

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 damaging
Transcript: ENSMUST00000113412
AA Change: L187F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109039
Gene: ENSMUSG00000025528
AA Change: L187F

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atxn7l1 A G 12: 33,408,696 (GRCm39) N286S probably damaging Het
B430306N03Rik C T 17: 48,626,194 (GRCm39) T129I possibly damaging Het
Cabp2 A G 19: 4,133,593 (GRCm39) T12A probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dmrta1 T A 4: 89,580,415 (GRCm39) Y458* probably null Het
Gabrr2 A G 4: 33,071,430 (GRCm39) D65G probably damaging Het
Grin3a G T 4: 49,792,704 (GRCm39) T343K possibly damaging Het
Hsp90ab1 T C 17: 45,882,403 (GRCm39) D97G probably damaging Het
Mageb4 G T X: 85,296,000 (GRCm39) R10S probably damaging Het
Mdm4 A G 1: 132,919,731 (GRCm39) L379S probably benign Het
Or8j3c T C 2: 86,253,987 (GRCm39) E11G probably damaging Het
Or8k40 A T 2: 86,584,215 (GRCm39) I289N probably damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Ppp2r2a C A 14: 67,257,199 (GRCm39) D344Y probably damaging Het
Rbm4 A G 19: 4,837,411 (GRCm39) Y358H probably damaging Het
Skic2 A G 17: 35,066,888 (GRCm39) F154S probably damaging Het
St3gal2 A G 8: 111,688,973 (GRCm39) D171G probably damaging Het
Strn T C 17: 78,964,421 (GRCm39) N515D probably damaging Het
Stxbp5l A T 16: 37,061,708 (GRCm39) Y367* probably null Het
Syk A G 13: 52,776,801 (GRCm39) probably null Het
Tgs1 A G 4: 3,604,949 (GRCm39) probably null Het
Tlr5 A T 1: 182,802,912 (GRCm39) R739W probably damaging Het
Tns2 G T 15: 102,021,184 (GRCm39) V942L probably null Het
Tsnaxip1 A G 8: 106,560,167 (GRCm39) T40A possibly damaging Het
Tub A G 7: 108,627,039 (GRCm39) S313G probably benign Het
Vmn2r77 A G 7: 86,450,044 (GRCm39) N97D probably damaging Het
Wscd2 T A 5: 113,689,078 (GRCm39) I28N possibly damaging Het
Other mutations in 2010106E10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:2010106E10Rik APN X 111,424,955 (GRCm39) missense probably benign 0.27
R3693:2010106E10Rik UTSW X 111,466,012 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGTGACAGATAGATGATAGTTACC -3'
(R):5'- TTCCTCAGGAAATATGCTAAAGAGC -3'

Sequencing Primer
(F):5'- AGATGATAGTTACCAGATGGCTC -3'
(R):5'- CAGTTGGAAACAGTCTTATCGTTAAC -3'
Posted On 2015-02-19