Incidental Mutation 'IGL01826:4930432K21Rik'
ID154674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930432K21Rik
Ensembl Gene ENSMUSG00000008129
Gene NameRIKEN cDNA 4930432K21 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01826
Quality Score
Status
Chromosome8
Chromosomal Location84148025-84172590 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84166672 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 156 (V156A)
Ref Sequence ENSEMBL: ENSMUSP00000113651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093375] [ENSMUST00000118856] [ENSMUST00000143833]
Predicted Effect probably benign
Transcript: ENSMUST00000093375
AA Change: V121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: V121A

DomainStartEndE-ValueType
low complexity region 226 241 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118856
AA Change: V156A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: V156A

DomainStartEndE-ValueType
Pfam:DUF4671 1 193 2.1e-62 PFAM
Pfam:DUF4671 181 600 7.3e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143833
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T A 7: 46,124,849 D769V probably benign Het
Afm T A 5: 90,524,928 probably benign Het
Ago3 A G 4: 126,403,282 S181P probably damaging Het
Ccdc114 T A 7: 45,948,386 S573R possibly damaging Het
Ccm2l C A 2: 153,067,933 probably benign Het
Clhc1 A G 11: 29,553,765 probably null Het
Ear6 A G 14: 51,854,265 I90V probably benign Het
Fsip2 T G 2: 82,982,639 S3101A probably benign Het
Gpsm1 C A 2: 26,326,302 H384N probably damaging Het
Itgal A G 7: 127,302,146 I235V probably benign Het
Lrp1b C A 2: 41,449,234 G752C probably damaging Het
Ltbp1 A G 17: 75,292,840 D659G possibly damaging Het
Plb1 A C 5: 32,281,145 D208A probably damaging Het
Plce1 T A 19: 38,739,238 probably benign Het
Stim1 A G 7: 102,427,075 probably benign Het
Sult4a1 A T 15: 84,090,046 S141T probably damaging Het
Tas2r119 A T 15: 32,177,402 K38M probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Zfp451 G A 1: 33,782,162 T203M probably damaging Het
Other mutations in 4930432K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:4930432K21Rik APN 8 84166771 missense probably damaging 0.99
IGL00964:4930432K21Rik APN 8 84166714 missense probably benign 0.07
IGL02445:4930432K21Rik APN 8 84159508 missense probably benign 0.13
R0113:4930432K21Rik UTSW 8 84167242 missense probably damaging 1.00
R1479:4930432K21Rik UTSW 8 84162397 missense possibly damaging 0.59
R1590:4930432K21Rik UTSW 8 84167086 missense probably benign 0.28
R3011:4930432K21Rik UTSW 8 84166910 nonsense probably null
R4357:4930432K21Rik UTSW 8 84159592 missense probably benign 0.25
R5642:4930432K21Rik UTSW 8 84167485 missense probably damaging 0.99
R5664:4930432K21Rik UTSW 8 84166659 missense probably benign 0.25
R5722:4930432K21Rik UTSW 8 84171844 missense probably damaging 0.96
R7031:4930432K21Rik UTSW 8 84166684 missense possibly damaging 0.83
R7224:4930432K21Rik UTSW 8 84172213 missense probably benign
R7303:4930432K21Rik UTSW 8 84161233 missense probably benign 0.38
R7459:4930432K21Rik UTSW 8 84167352 missense probably benign 0.03
R7618:4930432K21Rik UTSW 8 84166870 missense possibly damaging 0.85
RF040:4930432K21Rik UTSW 8 84167575 small insertion probably benign
Posted On2014-02-04