Incidental Mutation 'IGL03299:4921511C20Rik'
ID 416196
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 # IGL03299
Quality Score
Status
Chromosome X
Chromosomal Location 126301916-126303521 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 126303476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000059542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051530]
AlphaFold Q8BVT7
Predicted Effect probably benign
Transcript: ENSMUST00000051530
SMART Domains Protein: ENSMUSP00000059542
Gene: ENSMUSG00000049815

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,484,565 (GRCm39) C1566S probably damaging Het
Akr1cl A T 1: 65,063,874 (GRCm39) L105H probably damaging Het
Ano1 A G 7: 144,207,993 (GRCm39) F256S probably damaging Het
Arfip2 C T 7: 105,287,150 (GRCm39) R138H probably damaging Het
Cers6 T A 2: 68,692,128 (GRCm39) M50K probably benign Het
Dnah1 G A 14: 31,037,079 (GRCm39) Q256* probably null Het
Dync1h1 G A 12: 110,585,644 (GRCm39) E852K possibly damaging Het
Fars2 C T 13: 36,721,384 (GRCm39) Q443* probably null Het
Glb1l3 T C 9: 26,770,748 (GRCm39) N106S probably damaging Het
Haus7 T C X: 72,496,670 (GRCm39) probably null Het
Hectd1 C T 12: 51,847,671 (GRCm39) probably benign Het
Hyal5 G T 6: 24,877,881 (GRCm39) G326C probably damaging Het
Ibtk A T 9: 85,603,189 (GRCm39) D605E probably benign Het
Kif26b T C 1: 178,649,125 (GRCm39) L415P probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Muc5b A G 7: 141,395,117 (GRCm39) D41G unknown Het
Mxra7 A G 11: 116,695,360 (GRCm39) probably benign Het
Ncoa6 T C 2: 155,249,207 (GRCm39) T1366A probably damaging Het
Nmd3 C T 3: 69,637,762 (GRCm39) probably null Het
Or6c206 T C 10: 129,097,196 (GRCm39) V122A probably benign Het
Pla2g4a T C 1: 149,727,118 (GRCm39) N546S probably damaging Het
Prkcz T C 4: 155,371,247 (GRCm39) T139A possibly damaging Het
Rarb T C 14: 16,434,168 (GRCm38) K337E probably damaging Het
Rps6ka4 C T 19: 6,809,615 (GRCm39) probably benign Het
Scamp2 A G 9: 57,485,023 (GRCm39) probably null Het
Scn3a T A 2: 65,327,860 (GRCm39) M877L probably benign Het
Sh3pxd2b T C 11: 32,361,448 (GRCm39) probably benign Het
Slc22a29 C T 19: 8,140,012 (GRCm39) probably null Het
Slc34a1 T C 13: 24,005,094 (GRCm39) probably null Het
Srbd1 A T 17: 86,428,087 (GRCm39) I382N possibly damaging Het
Tm7sf2 T C 19: 6,112,958 (GRCm39) I387M probably benign Het
Wfs1 C A 5: 37,125,731 (GRCm39) E311* probably null Het
Zc3h13 G A 14: 75,531,381 (GRCm39) R93H probably 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
IGL02565:4921511C20Rik APN X 126,302,677 (GRCm39) missense probably benign 0.16
IGL03222:4921511C20Rik APN X 126,303,093 (GRCm39) missense probably benign
IGL03246:4921511C20Rik APN X 126,303,238 (GRCm39) missense probably benign 0.41
Z1176:4921511C20Rik UTSW X 126,302,465 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02