Incidental Mutation 'IGL02970:1700019A02Rik'
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ID365753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700019A02Rik
Ensembl Gene ENSMUSG00000060715
Gene NameRIKEN cDNA 1700019A02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02970
Quality Score
Status
Chromosome1
Chromosomal Location53158577-53187636 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 53187589 bp
ZygosityHeterozygous
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]
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: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in 1700019A02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:1700019A02Rik APN 1 53182509 missense probably benign 0.03
IGL02249:1700019A02Rik APN 1 53185272 nonsense probably null
IGL02727:1700019A02Rik APN 1 53187565 missense probably benign 0.00
IGL03402:1700019A02Rik APN 1 53177813 missense probably benign 0.00
R1557:1700019A02Rik UTSW 1 53181866 missense possibly damaging 0.81
R1955:1700019A02Rik UTSW 1 53163241 missense probably benign 0.09
R4030:1700019A02Rik UTSW 1 53182509 missense probably benign 0.03
R4060:1700019A02Rik UTSW 1 53158769 missense probably damaging 0.97
R4061:1700019A02Rik UTSW 1 53158769 missense probably damaging 0.97
R4062:1700019A02Rik UTSW 1 53158769 missense probably damaging 0.97
R4327:1700019A02Rik UTSW 1 53182505 missense possibly damaging 0.90
R6018:1700019A02Rik UTSW 1 53163246 critical splice acceptor site probably null
Posted On2015-12-18