Incidental Mutation 'IGL02953:2310057N15Rik'
ID 364989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310057N15Rik
Ensembl Gene ENSMUSG00000048830
Gene Name RIKEN cDNA 2310057N15 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02953
Quality Score
Status
Chromosome 16
Chromosomal Location 88570069-88571094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88570534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 169 (S169P)
Ref Sequence ENSEMBL: ENSMUSP00000062370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009191] [ENSMUST00000054223]
AlphaFold Q9D6T8
Predicted Effect probably benign
Transcript: ENSMUST00000009191
SMART Domains Protein: ENSMUSP00000009191
Gene: ENSMUSG00000009047

DomainStartEndE-ValueType
Pfam:PMG 1 77 1e-28 PFAM
Pfam:PMG 74 196 2.3e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000054223
AA Change: S169P

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062370
Gene: ENSMUSG00000048830
AA Change: S169P

DomainStartEndE-ValueType
Pfam:PMG 1 77 1.6e-28 PFAM
Pfam:PMG 74 200 7.5e-51 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 G A 11: 80,045,126 (GRCm39) G29R probably damaging Het
Adcy2 A T 13: 68,877,447 (GRCm39) I431N probably damaging Het
Amer3 T C 1: 34,626,877 (GRCm39) V372A probably damaging Het
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Atp6v0b A T 4: 117,742,419 (GRCm39) V111E probably damaging Het
Cep20 T C 16: 14,122,339 (GRCm39) K142E probably benign Het
Clmp T A 9: 40,685,683 (GRCm39) L193Q probably damaging Het
Dcaf7 T G 11: 105,942,702 (GRCm39) Y216* probably null Het
Dcbld2 T A 16: 58,272,100 (GRCm39) D385E probably benign Het
Des T A 1: 75,340,288 (GRCm39) D398E possibly damaging Het
Fancm C T 12: 65,168,740 (GRCm39) T1701I probably benign Het
Fat1 C A 8: 45,477,351 (GRCm39) D2132E probably damaging Het
Fkbp14 T C 6: 54,556,667 (GRCm39) K161R probably damaging Het
Fuca2 C T 10: 13,383,173 (GRCm39) probably benign Het
Habp2 T A 19: 56,302,664 (GRCm39) probably null Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Herc3 C T 6: 58,834,718 (GRCm39) Q242* probably null Het
Igkv4-81 T C 6: 68,967,981 (GRCm39) K40R probably benign Het
Irf5 C A 6: 29,536,671 (GRCm39) H461N possibly damaging Het
Lypd11 C T 7: 24,422,991 (GRCm39) C109Y probably damaging Het
Nav2 G A 7: 49,198,171 (GRCm39) V1267M probably damaging Het
Nlk A G 11: 78,517,527 (GRCm39) V155A probably benign Het
Nup214 C T 2: 31,878,241 (GRCm39) H303Y possibly damaging Het
Pld1 A C 3: 28,166,396 (GRCm39) M812L probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Secisbp2l C T 2: 125,602,194 (GRCm39) E389K probably benign Het
Serpina3a C T 12: 104,082,748 (GRCm39) R174C probably benign Het
Spef2 T C 15: 9,713,329 (GRCm39) R405G possibly damaging Het
Srpx A T X: 9,983,706 (GRCm39) probably benign Het
St18 T A 1: 6,914,337 (GRCm39) probably benign Het
Tcerg1 C T 18: 42,681,535 (GRCm39) P561S probably damaging Het
Topbp1 T A 9: 103,205,634 (GRCm39) N757K probably benign Het
Trrap G T 5: 144,752,774 (GRCm39) L1782F probably damaging Het
Tut1 G T 19: 8,940,056 (GRCm39) V347L probably damaging Het
Txnip T A 3: 96,465,682 (GRCm39) V44D probably damaging Het
Usp8 C T 2: 126,579,857 (GRCm39) T369I probably benign Het
Zzef1 A G 11: 72,746,224 (GRCm39) N842S probably benign Het
Other mutations in 2310057N15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0547:2310057N15Rik UTSW 16 88,570,498 (GRCm39) missense probably benign 0.01
R5008:2310057N15Rik UTSW 16 88,570,663 (GRCm39) missense probably damaging 0.99
R7272:2310057N15Rik UTSW 16 88,570,523 (GRCm39) nonsense probably null
R7612:2310057N15Rik UTSW 16 88,570,496 (GRCm39) nonsense probably null
R8220:2310057N15Rik UTSW 16 88,570,723 (GRCm39) missense probably damaging 1.00
R9004:2310057N15Rik UTSW 16 88,570,986 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18