Incidental Mutation 'IGL03283:4833423E24Rik'
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ID415637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4833423E24Rik
Ensembl Gene ENSMUSG00000075217
Gene NameRIKEN cDNA 4833423E24 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL03283
Quality Score
Status
Chromosome2
Chromosomal Location85483594-85519024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 85490407 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 351 (F351V)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
Predicted Effect probably damaging
Transcript: ENSMUST00000099923
AA Change: F351V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: F351V

DomainStartEndE-ValueType
Cyt-b5 65 139 6.6e-20 SMART
transmembrane domain 176 195 N/A INTRINSIC
Pfam:FA_desaturase 200 462 1.7e-39 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicdl2 A G 17: 23,667,181 E361G probably damaging Het
Cd163 A G 6: 124,309,199 D236G possibly damaging Het
Cep76 A T 18: 67,640,069 I53N possibly damaging Het
Cfap43 A G 19: 47,791,412 probably benign Het
Champ1 T C 8: 13,878,786 S315P probably benign Het
Ctdsp2 A G 10: 126,996,397 T91A probably benign Het
Cyp4a32 G T 4: 115,611,083 K283N possibly damaging Het
Dgki A G 6: 36,937,311 probably benign Het
Fam71a C T 1: 191,162,832 R538H probably benign Het
Gabrr2 A G 4: 33,082,364 probably benign Het
Gm5414 G T 15: 101,627,087 Q188K probably damaging Het
Grik2 A T 10: 49,578,269 M50K probably benign Het
Muc5ac A G 7: 141,813,781 M2980V probably benign Het
Pafah2 C T 4: 134,418,097 T264M probably damaging Het
Tacc2 A G 7: 130,742,266 M2552V possibly damaging Het
Usp3 C T 9: 66,562,549 probably null Het
Other mutations in 4833423E24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:4833423E24Rik APN 2 85518555 missense probably damaging 1.00
IGL02348:4833423E24Rik APN 2 85493296 missense possibly damaging 0.70
IGL02701:4833423E24Rik APN 2 85484169 missense probably damaging 1.00
IGL02833:4833423E24Rik APN 2 85502207 missense possibly damaging 0.46
IGL03152:4833423E24Rik APN 2 85500304 missense probably damaging 0.98
R0083:4833423E24Rik UTSW 2 85494132 missense possibly damaging 0.50
R0329:4833423E24Rik UTSW 2 85518551 missense probably benign 0.11
R0330:4833423E24Rik UTSW 2 85518551 missense probably benign 0.11
R0943:4833423E24Rik UTSW 2 85488765 missense probably damaging 0.99
R2100:4833423E24Rik UTSW 2 85500249 missense probably damaging 1.00
R3694:4833423E24Rik UTSW 2 85494110 missense probably benign 0.00
R3803:4833423E24Rik UTSW 2 85508338 splice site probably null
R3952:4833423E24Rik UTSW 2 85500204 splice site probably benign
R4161:4833423E24Rik UTSW 2 85518509 missense probably damaging 1.00
R4630:4833423E24Rik UTSW 2 85518646 nonsense probably null
R5765:4833423E24Rik UTSW 2 85484194 critical splice acceptor site probably null
R6104:4833423E24Rik UTSW 2 85508349 nonsense probably null
R6314:4833423E24Rik UTSW 2 85502176 missense probably benign 0.07
R6891:4833423E24Rik UTSW 2 85488805 missense possibly damaging 0.80
R6891:4833423E24Rik UTSW 2 85488813 missense probably damaging 1.00
X0021:4833423E24Rik UTSW 2 85518701 missense probably benign 0.00
Z1088:4833423E24Rik UTSW 2 85484181 missense probably damaging 1.00
Z1088:4833423E24Rik UTSW 2 85502077 missense probably benign 0.14
Posted On2016-08-02