Incidental Mutation 'IGL01547:1700013G24Rik'
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ID90360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700013G24Rik
Ensembl Gene ENSMUSG00000041399
Gene NameRIKEN cDNA 1700013G24 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.037) question?
Stock #IGL01547
Quality Score
Status
Chromosome4
Chromosomal Location137453284-137455461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 137455262 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 243 (G243R)
Ref Sequence ENSEMBL: ENSMUSP00000043461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048893]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048893
AA Change: G243R

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043461
Gene: ENSMUSG00000041399
AA Change: G243R

DomainStartEndE-ValueType
low complexity region 44 65 N/A INTRINSIC
low complexity region 181 203 N/A INTRINSIC
SCOP:d1i50b_ 216 261 3e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 123,501,351 V625A probably benign Het
Arhgap39 T C 15: 76,737,815 probably benign Het
Bag1 A G 4: 40,936,661 C332R probably damaging Het
Bcas2 T C 3: 103,171,999 Y49H probably damaging Het
Cacna1b C A 2: 24,632,035 probably benign Het
Cdyl A G 13: 35,790,162 D53G possibly damaging Het
Csmd3 T C 15: 47,883,617 I1322V probably benign Het
Evc2 C A 5: 37,393,087 A815E probably benign Het
Gm6309 C T 5: 146,168,411 D231N probably benign Het
Mtfr2 C T 10: 20,357,599 P305S probably damaging Het
Olfr301 A G 7: 86,412,871 N170D possibly damaging Het
Olfr639 A T 7: 104,012,660 I14N probably benign Het
Olfr77 A T 9: 19,920,901 I231F probably benign Het
Pcdhb1 A G 18: 37,267,342 H782R probably benign Het
Polr2a A G 11: 69,744,942 S480P probably damaging Het
Scaf11 T C 15: 96,418,429 T1085A probably benign Het
Sema6c C T 3: 95,172,398 R668C probably damaging Het
Tas2r123 C T 6: 132,847,458 T106I probably damaging Het
Tgm5 A G 2: 121,049,202 probably benign Het
Vmn2r23 T A 6: 123,704,424 I97N possibly damaging Het
Vmn2r6 T A 3: 64,538,104 K644N probably damaging Het
Zfp608 A G 18: 54,894,449 probably null Het
Other mutations in 1700013G24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02646:1700013G24Rik APN 4 137454790 nonsense probably null
R0526:1700013G24Rik UTSW 4 137455224 missense possibly damaging 0.92
R1449:1700013G24Rik UTSW 4 137455355 missense possibly damaging 0.94
R3743:1700013G24Rik UTSW 4 137455037 missense probably damaging 0.96
R5357:1700013G24Rik UTSW 4 137455152 missense possibly damaging 0.90
R6265:1700013G24Rik UTSW 4 137454675 missense probably damaging 1.00
R6586:1700013G24Rik UTSW 4 137455328 missense possibly damaging 0.90
R6720:1700013G24Rik UTSW 4 137454686 missense possibly damaging 0.94
R6988:1700013G24Rik UTSW 4 137454579 missense probably damaging 1.00
Posted On2013-12-03