Incidental Mutation 'IGL00809:4921539E11Rik'
ID8459
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 #IGL00809
Quality Score
Status
Chromosome4
Chromosomal Location103230445-103290863 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103235786 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 113 (T113A)
Ref Sequence ENSEMBL: ENSMUSP00000131846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030245
AA Change: T214A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: T214A

DomainStartEndE-ValueType
Pfam:DUF4545 1 443 6.1e-206 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097944
AA Change: T214A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: T214A

DomainStartEndE-ValueType
Pfam:DUF4545 1 270 7.3e-116 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168664
AA Change: T113A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520
AA Change: T113A

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 T A 11: 61,915,071 N277I possibly damaging Het
Ankrd24 A T 10: 81,643,067 probably benign Het
Bfsp2 T C 9: 103,453,098 E180G possibly damaging Het
Cd55 A T 1: 130,452,511 Y243* probably null Het
Col17a1 G T 19: 47,681,403 H103Q probably damaging Het
Diaph3 A T 14: 87,000,027 H311Q probably damaging Het
Dnah1 G A 14: 31,300,809 Q1124* probably null Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fzr1 G T 10: 81,370,525 S137* probably null Het
Gnl3 A G 14: 31,014,189 I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,467,013 G65S probably damaging Het
Hsd17b7 A T 1: 169,965,755 Y88* probably null Het
Itga2 C A 13: 114,877,625 A256S probably damaging Het
Itga7 T C 10: 128,939,169 probably null Het
Ivl T A 3: 92,572,512 Q82L possibly damaging Het
Lin28a C T 4: 134,008,056 G90S probably damaging Het
Lkaaear1 A T 2: 181,697,334 S108T probably benign Het
Mfsd11 T A 11: 116,859,351 S105T probably damaging Het
Mpp6 C T 6: 50,196,589 R478C probably benign Het
Osbpl9 C T 4: 109,133,763 R100H probably damaging Het
Pclo T A 5: 14,675,797 D1556E unknown Het
Phip G A 9: 82,871,303 S1796F probably damaging Het
Phtf1 T C 3: 103,988,667 S226P probably benign Het
Rapgef6 C A 11: 54,649,300 Q734K probably damaging Het
Scn9a A T 2: 66,483,935 I1802N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stab2 A T 10: 86,848,174 probably benign Het
Trpc7 T C 13: 56,822,488 I373V probably benign Het
Ttbk2 T A 2: 120,760,269 D303V probably damaging Het
Ylpm1 T C 12: 85,049,194 I1163T probably damaging Het
Other mutations in 4921539E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03210:4921539E11Rik APN 4 103284438 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 On2012-12-06