Incidental Mutation 'IGL02970:1700019A02Rik'
ID 365753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700019A02Rik
Ensembl Gene ENSMUSG00000060715
Gene Name RIKEN cDNA 1700019A02 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL02970
Quality Score
Status
Chromosome 1
Chromosomal Location 53197736-53226795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53226748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 5 (G5S)
Ref Sequence ENSEMBL: ENSMUSP00000072089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000072235] [ENSMUST00000190748]
AlphaFold A0A087WPV9
Predicted Effect probably benign
Transcript: ENSMUST00000027267
SMART Domains Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000072235
AA Change: G5S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: G5S

DomainStartEndE-ValueType
coiled coil region 38 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190748
SMART Domains Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715

DomainStartEndE-ValueType
coiled coil region 38 68 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,546,942 (GRCm39) F396I probably damaging Het
BC051019 T A 7: 109,315,262 (GRCm39) N331I probably benign Het
Crocc G A 4: 140,757,557 (GRCm39) S912L possibly damaging Het
Dcaf4 A G 12: 83,575,989 (GRCm39) D46G probably damaging Het
Dido1 C T 2: 180,331,208 (GRCm39) R80Q probably damaging Het
Dnase2b A G 3: 146,288,261 (GRCm39) V278A probably damaging Het
Drosha C T 15: 12,914,042 (GRCm39) L1106F probably damaging Het
Dsc3 C A 18: 20,101,317 (GRCm39) W692L probably damaging Het
F2 T A 2: 91,455,896 (GRCm39) Y579F possibly damaging Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gm9772 A G 17: 22,225,540 (GRCm39) F120S probably damaging Het
Gsdma3 T C 11: 98,523,819 (GRCm39) S251P probably benign Het
Hycc2 T C 1: 58,578,776 (GRCm39) E258G probably damaging Het
Itgam G A 7: 127,685,215 (GRCm39) E443K probably benign Het
Kif18a T C 2: 109,118,233 (GRCm39) V16A probably damaging Het
Lrrn3 T G 12: 41,502,359 (GRCm39) S653R probably benign Het
Map1b A T 13: 99,567,242 (GRCm39) Y1826* probably null Het
Mbnl1 T C 3: 60,520,844 (GRCm39) F139S probably damaging Het
Micu3 T C 8: 40,835,171 (GRCm39) Y509H possibly damaging Het
Ncmap T C 4: 135,104,329 (GRCm39) T17A probably damaging Het
Oas1h T A 5: 120,999,698 (GRCm39) M61K possibly damaging Het
Otog T A 7: 45,945,291 (GRCm39) W2183R probably benign Het
Pcdh15 T C 10: 74,126,794 (GRCm39) probably benign Het
Plekho1 C T 3: 95,898,214 (GRCm39) V150I probably damaging Het
Ppargc1b A G 18: 61,431,837 (GRCm39) S1004P probably damaging Het
Prf1 T C 10: 61,135,957 (GRCm39) S78P probably benign Het
Prss12 A G 3: 123,276,411 (GRCm39) S347G probably benign Het
Rai1 T C 11: 60,076,559 (GRCm39) S208P probably damaging Het
Sgms1 A G 19: 32,137,165 (GRCm39) Y134H probably damaging Het
Sult2a4 A G 7: 13,643,831 (GRCm39) probably benign Het
T C T 17: 8,654,217 (GRCm39) A134V probably damaging Het
Thoc5 A G 11: 4,854,201 (GRCm39) T187A probably damaging Het
Ticrr A G 7: 79,344,919 (GRCm39) S1595G probably benign Het
Tiprl A G 1: 165,064,315 (GRCm39) S30P probably damaging Het
Ttl T C 2: 128,917,990 (GRCm39) S151P probably damaging Het
Ttn T A 2: 76,583,334 (GRCm39) T22520S probably damaging Het
Usp54 G A 14: 20,627,540 (GRCm39) S420L probably damaging Het
Vmn1r62 T A 7: 5,678,567 (GRCm39) Y83N possibly damaging Het
Other mutations in 1700019A02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:1700019A02Rik APN 1 53,221,668 (GRCm39) missense probably benign 0.03
IGL02249:1700019A02Rik APN 1 53,224,431 (GRCm39) nonsense probably null
IGL02727:1700019A02Rik APN 1 53,226,724 (GRCm39) missense probably benign 0.00
IGL03402:1700019A02Rik APN 1 53,216,972 (GRCm39) missense probably benign 0.00
R1557:1700019A02Rik UTSW 1 53,221,025 (GRCm39) missense possibly damaging 0.81
R1955:1700019A02Rik UTSW 1 53,202,400 (GRCm39) missense probably benign 0.09
R4030:1700019A02Rik UTSW 1 53,221,668 (GRCm39) missense probably benign 0.03
R4060:1700019A02Rik UTSW 1 53,197,928 (GRCm39) missense probably damaging 0.97
R4061:1700019A02Rik UTSW 1 53,197,928 (GRCm39) missense probably damaging 0.97
R4062:1700019A02Rik UTSW 1 53,197,928 (GRCm39) missense probably damaging 0.97
R4327:1700019A02Rik UTSW 1 53,221,664 (GRCm39) missense possibly damaging 0.90
R6018:1700019A02Rik UTSW 1 53,202,405 (GRCm39) critical splice acceptor site probably null
R7490:1700019A02Rik UTSW 1 53,202,389 (GRCm39) missense possibly damaging 0.90
R7715:1700019A02Rik UTSW 1 53,221,659 (GRCm39) missense probably benign
R9487:1700019A02Rik UTSW 1 53,221,665 (GRCm39) missense possibly damaging 0.90
Posted On 2015-12-18