Incidental Mutation 'IGL01845:4933405L10Rik'
ID178208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933405L10Rik
Ensembl Gene ENSMUSG00000013158
Gene NameRIKEN cDNA 4933405L10 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01845
Quality Score
Status
Chromosome8
Chromosomal Location105707655-105710246 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105708935 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 75 (A75E)
Ref Sequence ENSEMBL: ENSMUSP00000148838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013294] [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000211852] [ENSMUST00000212061]
Predicted Effect probably benign
Transcript: ENSMUST00000013294
SMART Domains Protein: ENSMUSP00000013294
Gene: ENSMUSG00000013150

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 6 119 3.7e-14 PFAM
low complexity region 169 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000013299
SMART Domains Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

DomainStartEndE-ValueType
low complexity region 220 236 N/A INTRINSIC
Pfam:Enkurin 243 339 6.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000013302
AA Change: A75E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158
AA Change: A75E

DomainStartEndE-ValueType
Pfam:DUF4691 1 162 3.3e-71 PFAM
low complexity region 200 216 N/A INTRINSIC
low complexity region 252 275 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211852
AA Change: A75E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212716
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 14,944,118 L169P probably damaging Het
Abca1 A G 4: 53,090,297 L384P probably damaging Het
Acox2 C A 14: 8,251,617 M293I probably damaging Het
Acp6 A G 3: 97,173,807 S288G probably benign Het
Arhgef12 T A 9: 43,022,841 H127L possibly damaging Het
Arid2 T G 15: 96,356,797 F175V probably damaging Het
Ccdc15 G A 9: 37,315,236 Q468* probably null Het
Ccdc93 T C 1: 121,463,130 I277T probably damaging Het
Cdh8 T C 8: 99,098,954 probably benign Het
Cdipt T C 7: 126,979,553 S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 N268S possibly damaging Het
Clcn3 A T 8: 60,913,095 N814K probably benign Het
Col6a3 T C 1: 90,796,571 D2019G probably damaging Het
Corin C A 5: 72,353,939 G432C probably damaging Het
Cyld C T 8: 88,705,775 Q134* probably null Het
Dhh C A 15: 98,897,983 R97L probably damaging Het
Dnah5 T C 15: 28,449,169 V4239A probably benign Het
Dock2 T C 11: 34,708,865 I296V probably benign Het
Gabbr1 T C 17: 37,048,414 probably benign Het
Gbp10 T C 5: 105,219,949 probably null Het
Ispd A G 12: 36,547,919 R350G probably benign Het
Itgam T A 7: 128,112,472 L753Q probably damaging Het
Kbtbd12 A G 6: 88,613,940 V430A probably benign Het
Kdm4a A G 4: 118,160,459 V470A possibly damaging Het
Larp1b A T 3: 40,970,525 T146S probably benign Het
Lrrfip2 T A 9: 111,199,660 probably benign Het
Mgea5 T A 19: 45,767,862 E447D probably benign Het
Mier2 A T 10: 79,549,584 C137S possibly damaging Het
Morc3 A G 16: 93,860,567 Y393C probably damaging Het
Ms4a7 A T 19: 11,322,387 M217K possibly damaging Het
Msl1 A G 11: 98,805,365 probably null Het
Myh2 A G 11: 67,193,034 E1546G probably benign Het
Nlgn2 A G 11: 69,825,849 L622P possibly damaging Het
Olfr1419 A G 19: 11,870,524 S231P probably benign Het
Olfr181 T C 16: 58,926,566 M2V probably benign Het
Olfr339 A C 2: 36,422,093 K232Q probably benign Het
Olfr393 A G 11: 73,847,472 Y218H probably damaging Het
Olfr504 T A 7: 108,565,136 I220L possibly damaging Het
Phf20 C A 2: 156,276,657 S427* probably null Het
Pirt G A 11: 66,925,968 S35N probably damaging Het
Prss28 C A 17: 25,310,037 N117K possibly damaging Het
Rbbp8nl A G 2: 180,283,311 C34R probably damaging Het
Rtn3 A T 19: 7,457,876 D231E probably damaging Het
Sema5a T C 15: 32,474,368 probably benign Het
Sh3bp2 T A 5: 34,556,003 L196Q probably damaging Het
Slc26a9 G T 1: 131,757,518 D325Y probably damaging Het
Slc4a1 A G 11: 102,353,903 V622A probably benign Het
Thbd A G 2: 148,407,096 V284A probably benign Het
Tmc5 T C 7: 118,652,510 F609L possibly damaging Het
Tnr T C 1: 159,868,006 probably benign Het
Ttc17 A T 2: 94,332,832 Y881* probably null Het
Ttc41 A T 10: 86,776,624 T1254S probably benign Het
Ttn C T 2: 76,810,003 D13754N probably damaging Het
Vmn2r16 T A 5: 109,363,896 F656L probably damaging Het
Wdr19 A G 5: 65,225,366 I478V probably damaging Het
Zan T C 5: 137,380,854 probably benign Het
Zp2 T A 7: 120,138,191 D258V probably damaging Het
Other mutations in 4933405L10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01738:4933405L10Rik APN 8 105710036 missense probably damaging 0.98
R0096:4933405L10Rik UTSW 8 105708931 unclassified probably null
R0096:4933405L10Rik UTSW 8 105708931 unclassified probably null
R0396:4933405L10Rik UTSW 8 105709780 missense probably benign 0.06
R0711:4933405L10Rik UTSW 8 105708931 unclassified probably null
R1037:4933405L10Rik UTSW 8 105709512 missense probably benign 0.32
R1816:4933405L10Rik UTSW 8 105709859 missense possibly damaging 0.50
R1843:4933405L10Rik UTSW 8 105708974 missense probably damaging 0.98
R4332:4933405L10Rik UTSW 8 105709724 missense possibly damaging 0.92
R4868:4933405L10Rik UTSW 8 105710097 makesense probably null
R5072:4933405L10Rik UTSW 8 105709569 missense possibly damaging 0.71
R5285:4933405L10Rik UTSW 8 105708465 missense probably benign
R5656:4933405L10Rik UTSW 8 105709512 missense probably benign 0.32
R6196:4933405L10Rik UTSW 8 105709922 missense possibly damaging 0.92
R6524:4933405L10Rik UTSW 8 105709009 missense possibly damaging 0.71
R6657:4933405L10Rik UTSW 8 105708818 missense probably damaging 0.98
Z1088:4933405L10Rik UTSW 8 105709763 missense probably damaging 1.00
Z1177:4933405L10Rik UTSW 8 105709973 missense possibly damaging 0.91
Z1177:4933405L10Rik UTSW 8 105709975 missense possibly damaging 0.73
Posted On2014-05-07