Incidental Mutation 'IGL01566:4931417E11Rik'
ID90992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4931417E11Rik
Ensembl Gene ENSMUSG00000056197
Gene NameRIKEN cDNA 4931417E11 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL01566
Quality Score
Status
Chromosome6
Chromosomal Location73468573-73469667 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 73468690 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 292 (T292I)
Ref Sequence ENSEMBL: ENSMUSP00000068770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070163]
Predicted Effect probably damaging
Transcript: ENSMUST00000070163
AA Change: T292I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068770
Gene: ENSMUSG00000056197
AA Change: T292I

DomainStartEndE-ValueType
Pfam:DUF766 3 294 3.1e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205241
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in 4931417E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:4931417E11Rik APN 6 73468916 missense possibly damaging 0.83
IGL02903:4931417E11Rik APN 6 73469120 missense probably damaging 1.00
R0084:4931417E11Rik UTSW 6 73468935 nonsense probably null
R0123:4931417E11Rik UTSW 6 73469419 missense possibly damaging 0.49
R0225:4931417E11Rik UTSW 6 73469419 missense possibly damaging 0.49
R1478:4931417E11Rik UTSW 6 73469056 missense probably damaging 1.00
R1640:4931417E11Rik UTSW 6 73468886 missense probably benign 0.13
R4616:4931417E11Rik UTSW 6 73469269 missense probably benign 0.02
R5451:4931417E11Rik UTSW 6 73468867 missense probably benign 0.00
R5875:4931417E11Rik UTSW 6 73469045 missense possibly damaging 0.50
R5911:4931417E11Rik UTSW 6 73468691 missense probably damaging 0.99
R6784:4931417E11Rik UTSW 6 73468935 nonsense probably null
R6982:4931417E11Rik UTSW 6 73469544 nonsense probably null
R7990:4931417E11Rik UTSW 6 73469545 missense probably damaging 1.00
R8365:4931417E11Rik UTSW 6 73469346 missense probably benign 0.02
R8381:4931417E11Rik UTSW 6 73468912 missense probably damaging 1.00
X0024:4931417E11Rik UTSW 6 73469050 missense probably damaging 0.98
Posted On2013-12-09