Incidental Mutation 'IGL02755:4930512M02Rik'
ID 306396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930512M02Rik
Ensembl Gene ENSMUSG00000062511
Gene Name RIKEN cDNA 4930512M02 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02755
Quality Score
Status
Chromosome 11
Chromosomal Location 11539223-11577835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11539358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 189 (N189I)
Ref Sequence ENSEMBL: ENSMUSP00000080571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081896]
AlphaFold Q5SQK8
Predicted Effect unknown
Transcript: ENSMUST00000081896
AA Change: N189I
SMART Domains Protein: ENSMUSP00000080571
Gene: ENSMUSG00000062511
AA Change: N189I

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,103,005 (GRCm39) I682K probably benign Het
Adra1a G A 14: 66,965,110 (GRCm39) V367I probably benign Het
Alpk3 A G 7: 80,743,507 (GRCm39) E1108G possibly damaging Het
Ccdc186 A T 19: 56,801,828 (GRCm39) N96K probably benign Het
Ccnb1 A G 13: 100,918,168 (GRCm39) Y160H possibly damaging Het
Cebpz A T 17: 79,238,759 (GRCm39) V683E probably damaging Het
Cep104 A G 4: 154,081,416 (GRCm39) H786R possibly damaging Het
Chd9 T C 8: 91,760,210 (GRCm39) I1985T probably benign Het
Cntn2 T A 1: 132,457,040 (GRCm39) T36S probably benign Het
Cntnap5c T C 17: 58,671,189 (GRCm39) S1126P probably benign Het
Cpt2 A T 4: 107,764,972 (GRCm39) V264E probably damaging Het
Degs2 T C 12: 108,658,842 (GRCm39) T46A probably benign Het
Dip2c T C 13: 9,600,356 (GRCm39) probably null Het
Dnaaf1 A G 8: 120,317,410 (GRCm39) D313G probably damaging Het
Ephb3 T G 16: 21,040,448 (GRCm39) D561E probably damaging Het
Eps15 A G 4: 109,186,895 (GRCm39) T321A probably benign Het
Ercc6 A G 14: 32,297,705 (GRCm39) probably benign Het
Gcn1 T A 5: 115,742,065 (GRCm39) probably null Het
Gm28177 G A 1: 52,136,031 (GRCm39) probably benign Het
Gucy2g C A 19: 55,198,786 (GRCm39) V786F probably benign Het
H2-M3 T C 17: 37,581,913 (GRCm39) V123A possibly damaging Het
Hmgxb3 T C 18: 61,305,260 (GRCm39) K33E probably damaging Het
Ift22 T C 5: 136,940,640 (GRCm39) W102R probably damaging Het
Lgi4 T C 7: 30,762,530 (GRCm39) F44L probably damaging Het
Lingo3 T C 10: 80,671,843 (GRCm39) E29G possibly damaging Het
Nf2 A G 11: 4,768,542 (GRCm39) L109P probably damaging Het
Ntrk3 T C 7: 78,110,187 (GRCm39) H349R probably benign Het
Or6c8 T A 10: 128,915,065 (GRCm39) M256L probably benign Het
Otub1 T A 19: 7,183,624 (GRCm39) M1L probably benign Het
Pkp3 A G 7: 140,668,318 (GRCm39) probably null Het
Popdc3 C A 10: 45,191,314 (GRCm39) H142N probably damaging Het
Pot1a A G 6: 25,771,612 (GRCm39) F203S possibly damaging Het
Prdx5 A G 19: 6,886,963 (GRCm39) V8A probably benign Het
Rabgap1 T C 2: 37,427,326 (GRCm39) Y636H probably damaging Het
Rad51d A T 11: 82,772,458 (GRCm39) I236N probably benign Het
Reep3 G T 10: 66,857,656 (GRCm39) T145K possibly damaging Het
Samd3 G T 10: 26,120,475 (GRCm39) L156F probably damaging Het
Sh3bp5l A G 11: 58,228,829 (GRCm39) T101A probably benign Het
Slc3a1 T C 17: 85,344,605 (GRCm39) V257A probably damaging Het
Sptbn1 A G 11: 30,092,247 (GRCm39) V506A probably damaging Het
Stab1 A T 14: 30,861,595 (GRCm39) S2471T probably benign Het
Vmn2r85 T C 10: 130,261,381 (GRCm39) T319A probably damaging Het
Vmn2r94 C T 17: 18,464,761 (GRCm39) V510I probably benign Het
Wscd2 T A 5: 113,712,092 (GRCm39) M337K possibly damaging Het
Zfp866 A G 8: 70,219,290 (GRCm39) probably null Het
Other mutations in 4930512M02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0379:4930512M02Rik UTSW 11 11,539,365 (GRCm39) splice site probably benign
R5038:4930512M02Rik UTSW 11 11,539,375 (GRCm39) splice site probably null
R7139:4930512M02Rik UTSW 11 11,540,078 (GRCm39) missense unknown
R8511:4930512M02Rik UTSW 11 11,540,056 (GRCm39) missense unknown
X0065:4930512M02Rik UTSW 11 11,574,643 (GRCm39) missense unknown
Posted On 2015-04-16