Incidental Mutation 'IGL02214:A930004D18Rik'
ID 284789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A930004D18Rik
Ensembl Gene ENSMUSG00000054057
Gene Name RIKEN cDNA A930004D18 gene
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.315) question?
Stock # IGL02214
Quality Score
Status
Chromosome 2
Chromosomal Location 18030004-18042548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18032067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 17 (L17P)
Ref Sequence ENSEMBL: ENSMUSP00000066378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066163]
AlphaFold Q8C8W7
Predicted Effect unknown
Transcript: ENSMUST00000066163
AA Change: L17P
SMART Domains Protein: ENSMUSP00000066378
Gene: ENSMUSG00000054057
AA Change: L17P

DomainStartEndE-ValueType
transmembrane domain 85 104 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151857
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,736 (GRCm39) probably benign Het
A330008L17Rik T A 8: 100,148,390 (GRCm39) noncoding transcript Het
Abca14 A T 7: 119,893,398 (GRCm39) M1283L probably benign Het
Adarb1 A T 10: 77,158,135 (GRCm39) V104E probably damaging Het
Ano1 T A 7: 144,209,445 (GRCm39) N252Y possibly damaging Het
Atp6v0a1 A G 11: 100,930,666 (GRCm39) S498G probably benign Het
Bdp1 A G 13: 100,178,043 (GRCm39) V1942A probably benign Het
Carf T A 1: 60,187,240 (GRCm39) D579E probably damaging Het
Cltc A T 11: 86,623,412 (GRCm39) S200R probably benign Het
Cpeb1 T C 7: 81,021,805 (GRCm39) S113G possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ehd3 T A 17: 74,127,541 (GRCm39) L158H probably damaging Het
Etfa C A 9: 55,372,095 (GRCm39) G289W probably damaging Het
Fndc3c1 G A X: 105,469,435 (GRCm39) T1029I probably benign Het
Gipr C A 7: 18,891,471 (GRCm39) G402V possibly damaging Het
Hacd1 C T 2: 14,031,758 (GRCm39) V242M probably damaging Het
Hecw1 A G 13: 14,474,978 (GRCm39) L520P probably damaging Het
Ibtk A T 9: 85,596,232 (GRCm39) probably benign Het
Igkv16-104 A C 6: 68,402,778 (GRCm39) I24L probably benign Het
Kcnh8 A T 17: 53,184,939 (GRCm39) Y407F possibly damaging Het
Mansc1 C T 6: 134,587,323 (GRCm39) V285M probably benign Het
Mindy4 A G 6: 55,193,636 (GRCm39) R110G possibly damaging Het
Morn1 C T 4: 155,176,776 (GRCm39) H100Y probably damaging Het
Naip6 A T 13: 100,452,567 (GRCm39) S165T probably damaging Het
Or13a24 A T 7: 140,154,470 (GRCm39) R135* probably null Het
Or5aq1 T G 2: 86,965,849 (GRCm39) K272T probably damaging Het
Prx G T 7: 27,218,337 (GRCm39) R946M probably damaging Het
Ptchd1 A G X: 154,356,706 (GRCm39) V833A possibly damaging Het
Rgl2 A G 17: 34,154,163 (GRCm39) D481G probably benign Het
Serpinb3a A G 1: 106,976,218 (GRCm39) probably null Het
Shtn1 T C 19: 58,988,318 (GRCm39) probably benign Het
Slco1a7 T A 6: 141,668,911 (GRCm39) D507V possibly damaging Het
Sult1b1 C T 5: 87,682,949 (GRCm39) probably benign Het
Tbl3 T C 17: 24,923,106 (GRCm39) probably benign Het
Trappc9 C T 15: 72,884,731 (GRCm39) W416* probably null Het
Ubr4 T C 4: 139,155,894 (GRCm39) Y2240H possibly damaging Het
Ubr4 G A 4: 139,189,138 (GRCm39) probably null Het
Vmn2r76 A C 7: 85,879,138 (GRCm39) F387L probably benign Het
Vps8 G A 16: 21,336,035 (GRCm39) C729Y probably damaging Het
Other mutations in A930004D18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:A930004D18Rik APN 2 18,032,004 (GRCm39) missense unknown
IGL02741:A930004D18Rik APN 2 18,032,007 (GRCm39) missense unknown
R4579:A930004D18Rik UTSW 2 18,031,848 (GRCm39) missense probably damaging 0.99
R9560:A930004D18Rik UTSW 2 18,032,218 (GRCm39) start gained probably benign
X0017:A930004D18Rik UTSW 2 18,031,911 (GRCm39) missense unknown
Posted On 2015-04-16