Incidental Mutation 'IGL02565:4921511C20Rik'
ID 298786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4921511C20Rik
Ensembl Gene ENSMUSG00000049815
Gene Name RIKEN cDNA 4921511C20 gene
Synonyms LOC245598
Accession Numbers
Essential gene? Not available question?
Stock # IGL02565
Quality Score
Status
Chromosome X
Chromosomal Location 126301916-126303521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126302677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 205 (S205R)
Ref Sequence ENSEMBL: ENSMUSP00000059542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051530]
AlphaFold Q8BVT7
Predicted Effect probably benign
Transcript: ENSMUST00000051530
AA Change: S205R

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000059542
Gene: ENSMUSG00000049815
AA Change: S205R

DomainStartEndE-ValueType
KH 6 75 2.35e0 SMART
KH 79 177 4.11e-1 SMART
KH 178 244 2.48e-12 SMART
KH 256 326 1.1e-4 SMART
KH 330 398 1.11e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 A G 3: 105,815,128 (GRCm39) T293A probably benign Het
App T C 16: 84,822,308 (GRCm39) probably null Het
Asap1 A G 15: 64,001,014 (GRCm39) probably benign Het
Brinp3 T A 1: 146,777,770 (GRCm39) V739E probably damaging Het
Bsn A G 9: 107,990,487 (GRCm39) V1755A probably damaging Het
Clmp A C 9: 40,683,711 (GRCm39) D147A probably damaging Het
Cntn5 A T 9: 10,145,343 (GRCm39) C122* probably null Het
Ctsb T G 14: 63,375,859 (GRCm39) C198G probably null Het
Cyld A T 8: 89,467,919 (GRCm39) R702S probably damaging Het
Cyp4v3 A G 8: 45,773,674 (GRCm39) V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 (GRCm39) V59F probably benign Het
Eml1 A T 12: 108,472,779 (GRCm39) T196S probably damaging Het
Fam111a T A 19: 12,564,318 (GRCm39) D22E probably damaging Het
Gigyf2 A G 1: 87,369,858 (GRCm39) H1150R probably damaging Het
Grk5 T G 19: 61,057,809 (GRCm39) F170V probably damaging Het
Heatr5a A C 12: 51,997,882 (GRCm39) V339G possibly damaging Het
Hgd T A 16: 37,435,749 (GRCm39) D153E possibly damaging Het
Ift70b A G 2: 75,768,247 (GRCm39) Y169H probably benign Het
Igdcc3 T A 9: 65,087,470 (GRCm39) L336Q probably damaging Het
Jph2 T C 2: 163,239,265 (GRCm39) E61G probably damaging Het
Ktn1 A T 14: 47,910,391 (GRCm39) probably benign Het
Lrch3 T A 16: 32,826,084 (GRCm39) D634E probably benign Het
Marchf6 T C 15: 31,490,712 (GRCm39) probably benign Het
Misp T A 10: 79,662,177 (GRCm39) I198N probably benign Het
Mmp14 C T 14: 54,678,014 (GRCm39) P545L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Muc5b T C 7: 141,411,604 (GRCm39) S1517P unknown Het
Nae1 A T 8: 105,237,841 (GRCm39) N518K probably damaging Het
Pglyrp4 A T 3: 90,642,794 (GRCm39) D225V probably benign Het
Pgpep1 A G 8: 71,105,119 (GRCm39) I47T probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnc1 G A 11: 107,187,059 (GRCm39) T88I probably damaging Het
Poldip2 T C 11: 78,408,678 (GRCm39) I181T probably damaging Het
Ppfia2 T C 10: 106,699,247 (GRCm39) probably null Het
Rasal1 A G 5: 120,814,845 (GRCm39) probably benign Het
Rbms1 A G 2: 60,590,123 (GRCm39) Y305H probably benign Het
Rnf123 A C 9: 107,929,411 (GRCm39) probably null Het
Sec14l3 G A 11: 4,026,237 (GRCm39) probably benign Het
Slc2a10 A C 2: 165,357,000 (GRCm39) D220A probably damaging Het
Slc38a8 T C 8: 120,212,300 (GRCm39) T348A probably damaging Het
Slc4a5 T C 6: 83,276,487 (GRCm39) V1104A probably benign Het
Snrpe T C 1: 133,536,704 (GRCm39) probably benign Het
Th C A 7: 142,453,647 (GRCm39) V18F probably damaging Het
Ubqln5 G A 7: 103,778,279 (GRCm39) Q182* probably null Het
Unc5c T C 3: 141,509,680 (GRCm39) V646A probably damaging Het
Wasf1 A G 10: 40,812,128 (GRCm39) N306D possibly damaging Het
Other mutations in 4921511C20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:4921511C20Rik APN X 126,303,196 (GRCm39) missense probably benign 0.00
IGL02456:4921511C20Rik APN X 126,302,584 (GRCm39) nonsense probably null
IGL03222:4921511C20Rik APN X 126,303,093 (GRCm39) missense probably benign
IGL03246:4921511C20Rik APN X 126,303,238 (GRCm39) missense probably benign 0.41
IGL03299:4921511C20Rik APN X 126,303,476 (GRCm39) utr 3 prime probably benign
Z1176:4921511C20Rik UTSW X 126,302,465 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16