Incidental Mutation 'IGL00937:E130308A19Rik'
ID 27262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E130308A19Rik
Ensembl Gene ENSMUSG00000045071
Gene Name RIKEN cDNA E130308A19 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # IGL00937
Quality Score
Status
Chromosome 4
Chromosomal Location 59626116-59757649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59690846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 227 (A227T)
Ref Sequence ENSEMBL: ENSMUSP00000065702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052420] [ENSMUST00000070150]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000052420
AA Change: A227T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: A227T

DomainStartEndE-ValueType
low complexity region 130 141 N/A INTRINSIC
low complexity region 364 387 N/A INTRINSIC
Pfam:DUF3504 520 673 2.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070150
AA Change: A227T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071
AA Change: A227T

DomainStartEndE-ValueType
low complexity region 130 141 N/A INTRINSIC
low complexity region 364 387 N/A INTRINSIC
low complexity region 496 507 N/A INTRINSIC
Pfam:DUF3504 532 687 4.5e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152797
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d2a A T 5: 43,845,464 (GRCm39) probably null Het
Cd34 A G 1: 194,642,422 (GRCm39) E381G probably damaging Het
Chka A G 19: 3,942,189 (GRCm39) E381G probably benign Het
Dennd1b T A 1: 139,097,977 (GRCm39) C673S probably benign Het
F13b T A 1: 139,445,098 (GRCm39) probably benign Het
Hipk3 T C 2: 104,263,517 (GRCm39) N933D possibly damaging Het
Mmp27 T C 9: 7,578,900 (GRCm39) probably benign Het
Nod1 C T 6: 54,914,349 (GRCm39) V815I probably benign Het
Or2a5 T A 6: 42,873,568 (GRCm39) F61Y probably damaging Het
Or2ag15 T A 7: 106,340,364 (GRCm39) Y259F probably damaging Het
Or3a1d C T 11: 74,238,255 (GRCm39) V52I probably benign Het
Or51ab3 C A 7: 103,201,064 (GRCm39) A24E probably damaging Het
Or51h1 T A 7: 102,308,555 (GRCm39) S176T probably damaging Het
Or52k2 T A 7: 102,253,564 (GRCm39) M1K probably null Het
Pms1 T A 1: 53,314,410 (GRCm39) E45V possibly damaging Het
Prkcsh T C 9: 21,917,861 (GRCm39) S126P possibly damaging Het
Pros1 A T 16: 62,730,408 (GRCm39) L299F probably damaging Het
Scrn1 A G 6: 54,497,718 (GRCm39) I291T probably benign Het
Slc15a2 A T 16: 36,572,242 (GRCm39) Y676* probably null Het
Tenm2 A C 11: 35,915,450 (GRCm39) V2028G probably damaging Het
Trpa1 T C 1: 14,950,501 (GRCm39) probably benign Het
Other mutations in E130308A19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:E130308A19Rik APN 4 59,737,743 (GRCm39) splice site probably benign
IGL00672:E130308A19Rik APN 4 59,719,697 (GRCm39) missense probably benign 0.00
IGL01885:E130308A19Rik APN 4 59,720,004 (GRCm39) missense probably benign 0.20
IGL02638:E130308A19Rik APN 4 59,719,676 (GRCm39) nonsense probably null
H8562:E130308A19Rik UTSW 4 59,691,033 (GRCm39) missense possibly damaging 0.70
R0044:E130308A19Rik UTSW 4 59,690,290 (GRCm39) missense possibly damaging 0.86
R0523:E130308A19Rik UTSW 4 59,719,716 (GRCm39) missense probably damaging 0.98
R0788:E130308A19Rik UTSW 4 59,719,847 (GRCm39) missense possibly damaging 0.76
R1215:E130308A19Rik UTSW 4 59,690,743 (GRCm39) missense probably benign 0.37
R1490:E130308A19Rik UTSW 4 59,719,746 (GRCm39) missense probably damaging 0.99
R2292:E130308A19Rik UTSW 4 59,690,579 (GRCm39) missense probably damaging 0.99
R3907:E130308A19Rik UTSW 4 59,752,393 (GRCm39) missense probably benign 0.14
R4288:E130308A19Rik UTSW 4 59,690,308 (GRCm39) missense probably benign 0.33
R4780:E130308A19Rik UTSW 4 59,691,057 (GRCm39) missense probably benign 0.01
R4781:E130308A19Rik UTSW 4 59,691,057 (GRCm39) missense probably benign 0.01
R4834:E130308A19Rik UTSW 4 59,690,317 (GRCm39) nonsense probably null
R4985:E130308A19Rik UTSW 4 59,691,017 (GRCm39) missense probably benign 0.01
R6123:E130308A19Rik UTSW 4 59,737,565 (GRCm39) missense probably damaging 1.00
R6290:E130308A19Rik UTSW 4 59,691,332 (GRCm39) missense probably benign 0.25
R6315:E130308A19Rik UTSW 4 59,691,132 (GRCm39) missense probably benign
R6643:E130308A19Rik UTSW 4 59,720,561 (GRCm39) missense possibly damaging 0.90
R6763:E130308A19Rik UTSW 4 59,752,288 (GRCm39) missense probably damaging 0.99
R6980:E130308A19Rik UTSW 4 59,719,991 (GRCm39) missense probably damaging 0.97
R7036:E130308A19Rik UTSW 4 59,719,991 (GRCm39) missense probably damaging 0.97
R7078:E130308A19Rik UTSW 4 59,737,688 (GRCm39) missense probably damaging 1.00
R7098:E130308A19Rik UTSW 4 59,753,004 (GRCm39) missense possibly damaging 0.88
R7171:E130308A19Rik UTSW 4 59,690,333 (GRCm39) missense probably damaging 1.00
R7247:E130308A19Rik UTSW 4 59,690,502 (GRCm39) missense probably damaging 1.00
R7366:E130308A19Rik UTSW 4 59,752,770 (GRCm39) missense probably damaging 0.99
R7916:E130308A19Rik UTSW 4 59,719,841 (GRCm39) missense probably damaging 1.00
R8050:E130308A19Rik UTSW 4 59,719,767 (GRCm39) missense probably damaging 1.00
R8445:E130308A19Rik UTSW 4 59,720,526 (GRCm39) missense probably damaging 0.99
R8795:E130308A19Rik UTSW 4 59,737,676 (GRCm39) missense possibly damaging 0.93
R9088:E130308A19Rik UTSW 4 59,737,594 (GRCm39) missense probably benign 0.16
R9663:E130308A19Rik UTSW 4 59,719,764 (GRCm39) missense possibly damaging 0.87
Z1176:E130308A19Rik UTSW 4 59,720,313 (GRCm39) missense probably damaging 1.00
Z1177:E130308A19Rik UTSW 4 59,720,223 (GRCm39) missense probably benign
Posted On 2013-04-17