Incidental Mutation 'IGL03210:4921539E11Rik'
ID413255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4921539E11Rik
Ensembl Gene ENSMUSG00000028520
Gene NameRIKEN cDNA 4921539E11 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL03210
Quality Score
Status
Chromosome4
Chromosomal Location103230445-103290863 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103284438 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 9 (F9L)
Ref Sequence ENSEMBL: ENSMUSP00000095557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]
Predicted Effect probably benign
Transcript: ENSMUST00000030245
AA Change: F9L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: F9L

DomainStartEndE-ValueType
Pfam:DUF4545 1 443 6.1e-206 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097944
AA Change: F9L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: F9L

DomainStartEndE-ValueType
Pfam:DUF4545 1 270 7.3e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168664
SMART Domains Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520

DomainStartEndE-ValueType
Pfam:DUF4545 1 342 4.4e-183 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 T C 3: 105,907,860 S163P probably benign Het
C3 G A 17: 57,215,846 Q1013* probably null Het
Cacna1b A T 2: 24,650,572 F1381Y probably benign Het
Dcdc2b T C 4: 129,611,785 K95R probably benign Het
Dnah8 A G 17: 30,815,665 E4186G probably damaging Het
Dock1 T C 7: 134,756,939 V374A possibly damaging Het
Gramd3 A G 18: 56,474,098 T95A probably benign Het
Grk2 C T 19: 4,287,829 E508K probably benign Het
Hmgb4 A G 4: 128,260,742 V11A probably benign Het
Knl1 G A 2: 119,070,617 S933N probably benign Het
Ldlrad3 G A 2: 102,069,926 probably benign Het
Lrrc37a T A 11: 103,499,505 Y1698F probably benign Het
Ms4a14 A G 19: 11,301,961 W1078R possibly damaging Het
Nol4l G A 2: 153,529,458 P102L probably benign Het
Nsun3 A G 16: 62,770,747 F178L probably damaging Het
Nup85 T A 11: 115,566,636 Y55N probably benign Het
Olfr1006 T C 2: 85,674,353 Y266C probably damaging Het
Olfr512 T A 7: 108,713,568 Y60N probably damaging Het
Olfr740 A T 14: 50,453,983 R310S probably benign Het
Opcml A G 9: 28,901,537 E175G probably damaging Het
Pask A T 1: 93,319,992 W1074R possibly damaging Het
Pdzrn3 T C 6: 101,156,952 T439A possibly damaging Het
Pkd1l1 C A 11: 8,965,127 V138L unknown Het
Ptprj C A 2: 90,469,726 V244L probably benign Het
Rapgef5 A G 12: 117,742,872 K697E probably damaging Het
Rnf165 C A 18: 77,466,739 V60L probably damaging Het
Rp9 G T 9: 22,457,428 H78Q probably benign Het
Serpinb8 A G 1: 107,602,911 T140A probably damaging Het
Slc29a4 A T 5: 142,715,108 M203L probably damaging Het
Stag1 T A 9: 100,845,076 L363I possibly damaging Het
Susd1 T G 4: 59,333,035 probably null Het
Thoc3 A T 13: 54,466,222 M196K probably benign Het
Tnr A G 1: 159,888,310 T881A probably benign Het
Ttbk2 A G 2: 120,822,492 V17A probably damaging Het
Ttc41 T A 10: 86,724,414 probably null Het
Utp14b A G 1: 78,665,551 M389V probably benign Het
Utp4 T A 8: 106,916,256 H515Q probably benign Het
Xpo1 A G 11: 23,278,834 H223R probably benign Het
Xpot A G 10: 121,615,227 probably benign Het
Zfp455 A T 13: 67,207,049 H127L possibly damaging Het
Zscan4e T A 7: 11,307,532 M166L probably benign Het
Other mutations in 4921539E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:4921539E11Rik APN 4 103235786 missense possibly damaging 0.95
IGL00864:4921539E11Rik APN 4 103235698 missense probably damaging 1.00
IGL01951:4921539E11Rik APN 4 103235668 missense probably damaging 1.00
IGL02477:4921539E11Rik APN 4 103270746 missense probably benign 0.04
IGL02606:4921539E11Rik APN 4 103242781 missense probably benign 0.01
BB004:4921539E11Rik UTSW 4 103266342 missense probably benign 0.02
BB014:4921539E11Rik UTSW 4 103266342 missense probably benign 0.02
R0441:4921539E11Rik UTSW 4 103235492 intron probably benign
R0455:4921539E11Rik UTSW 4 103230983 missense possibly damaging 0.69
R0504:4921539E11Rik UTSW 4 103270860 splice site probably benign
R0636:4921539E11Rik UTSW 4 103231217 missense probably damaging 1.00
R0766:4921539E11Rik UTSW 4 103270797 missense probably damaging 0.99
R0799:4921539E11Rik UTSW 4 103242904 missense possibly damaging 0.83
R1312:4921539E11Rik UTSW 4 103270797 missense probably damaging 0.99
R1713:4921539E11Rik UTSW 4 103270767 missense possibly damaging 0.92
R1783:4921539E11Rik UTSW 4 103231089 missense probably damaging 0.99
R1978:4921539E11Rik UTSW 4 103270764 missense possibly damaging 0.49
R3735:4921539E11Rik UTSW 4 103266406 missense probably damaging 1.00
R4821:4921539E11Rik UTSW 4 103235674 missense probably damaging 1.00
R5274:4921539E11Rik UTSW 4 103235659 missense probably benign 0.22
R5275:4921539E11Rik UTSW 4 103235659 missense probably benign 0.22
R5431:4921539E11Rik UTSW 4 103270848 missense probably benign 0.00
R5449:4921539E11Rik UTSW 4 103266382 missense probably benign
R6049:4921539E11Rik UTSW 4 103231323 missense probably benign 0.05
R6277:4921539E11Rik UTSW 4 103231471 nonsense probably null
R6518:4921539E11Rik UTSW 4 103266411 missense probably damaging 1.00
R6602:4921539E11Rik UTSW 4 103255572 missense probably benign 0.36
R6634:4921539E11Rik UTSW 4 103236930 critical splice donor site probably null
R6992:4921539E11Rik UTSW 4 103242793 missense possibly damaging 0.57
R7575:4921539E11Rik UTSW 4 103230995 missense probably damaging 1.00
R7927:4921539E11Rik UTSW 4 103266342 missense probably benign 0.02
R8130:4921539E11Rik UTSW 4 103235698 missense probably damaging 1.00
R8461:4921539E11Rik UTSW 4 103255515 missense probably benign 0.01
Posted On2016-08-02