Incidental Mutation 'IGL03369:1700013D24Rik'
ID 420209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700013D24Rik
Ensembl Gene ENSMUSG00000079346
Gene Name RIKEN cDNA 1700013D24 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL03369
Quality Score
Status
Chromosome 6
Chromosomal Location 124324546-124334003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124333380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 72 (N72S)
Ref Sequence ENSEMBL: ENSMUSP00000108156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112537]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000112537
AA Change: N72S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108156
Gene: ENSMUSG00000079346
AA Change: N72S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203817
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,653,862 (GRCm39) probably null Het
Angptl3 A T 4: 98,923,057 (GRCm39) probably benign Het
Aox4 A G 1: 58,301,746 (GRCm39) D1106G probably benign Het
Capn13 G A 17: 73,648,149 (GRCm39) probably benign Het
Cep250 A G 2: 155,832,191 (GRCm39) H1371R probably benign Het
Chrna1 A T 2: 73,400,789 (GRCm39) F247Y probably benign Het
Col2a1 T C 15: 97,879,923 (GRCm39) T813A unknown Het
Dab2 T C 15: 6,464,790 (GRCm39) V414A possibly damaging Het
Dach2 T C X: 112,465,937 (GRCm39) probably benign Het
Fap A G 2: 62,333,699 (GRCm39) probably benign Het
Fgd5 T A 6: 91,965,396 (GRCm39) V385D probably damaging Het
Fmnl1 A G 11: 103,088,008 (GRCm39) probably null Het
Gorasp2 G A 2: 70,513,336 (GRCm39) G201D probably damaging Het
Gp2 T A 7: 119,050,783 (GRCm39) Q316L probably damaging Het
Gpx8 T C 13: 113,179,696 (GRCm39) I202V probably damaging Het
Gsta3 A G 1: 21,335,173 (GRCm39) K218R probably benign Het
Lama3 C T 18: 12,686,340 (GRCm39) T1195I probably benign Het
Map3k12 T C 15: 102,410,514 (GRCm39) R488G possibly damaging Het
Mapt A T 11: 104,173,259 (GRCm39) Y18F probably damaging Het
Med21 T C 6: 146,544,143 (GRCm39) V12A probably benign Het
Mgat4b A G 11: 50,124,936 (GRCm39) E457G possibly damaging Het
Mybl1 T A 1: 9,742,780 (GRCm39) K609N probably damaging Het
Ncaph2 T G 15: 89,247,858 (GRCm39) V75G probably benign Het
Neb A G 2: 52,068,049 (GRCm39) Y5795H probably benign Het
Nup153 A G 13: 46,854,459 (GRCm39) probably null Het
Or6c215 T C 10: 129,638,340 (GRCm39) D18G probably damaging Het
Or6y1 T A 1: 174,276,435 (GRCm39) I82N probably damaging Het
Plekhf2 G T 4: 10,990,703 (GRCm39) T213K probably benign Het
Plekho2 C A 9: 65,466,776 (GRCm39) G105W probably damaging Het
Polr3b G A 10: 84,512,816 (GRCm39) G566D probably damaging Het
Rasgrf1 T C 9: 89,892,504 (GRCm39) I1068T probably damaging Het
Rnf213 A T 11: 119,312,294 (GRCm39) E907V probably benign Het
Runx1t1 C T 4: 13,881,107 (GRCm39) S469F probably damaging Het
Spata31e4 G T 13: 50,857,200 (GRCm39) C946F possibly damaging Het
Top1 A T 2: 160,535,647 (GRCm39) D182V unknown Het
Uckl1 T C 2: 181,211,982 (GRCm39) T375A probably benign Het
Usp53 A T 3: 122,727,370 (GRCm39) probably benign Het
Vmn2r61 T A 7: 41,909,517 (GRCm39) I14N probably benign Het
Wbp4 A T 14: 79,707,558 (GRCm39) N184K probably damaging Het
Other mutations in 1700013D24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:1700013D24Rik APN 6 124,333,907 (GRCm39) missense probably benign 0.00
R0760:1700013D24Rik UTSW 6 124,324,661 (GRCm39) missense possibly damaging 0.46
R1984:1700013D24Rik UTSW 6 124,324,778 (GRCm39) missense probably damaging 0.99
R2146:1700013D24Rik UTSW 6 124,324,803 (GRCm39) splice site probably null
R4035:1700013D24Rik UTSW 6 124,333,879 (GRCm39) missense probably benign 0.27
R4119:1700013D24Rik UTSW 6 124,333,863 (GRCm39) missense probably damaging 0.97
R6502:1700013D24Rik UTSW 6 124,333,908 (GRCm39) missense probably benign 0.12
R8425:1700013D24Rik UTSW 6 124,324,745 (GRCm39) missense possibly damaging 0.82
R9179:1700013D24Rik UTSW 6 124,333,882 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02