Incidental Mutation 'R3948:Obscn'
ID307794
Institutional Source Beutler Lab
Gene Symbol Obscn
Ensembl Gene ENSMUSG00000061462
Gene Nameobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
SynonymsOTTMUSG00000005786, LOC380698
MMRRC Submission 040928-MU
Accession Numbers

Genbank: NM_001171512.1, NM_199152.2; MGI: 2681862

Is this an essential gene? Possibly essential (E-score: 0.731) question?
Stock #R3948 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location58994256-59136402 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59131646 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 758 (R758G)
Ref Sequence ENSEMBL: ENSMUSP00000020732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020732] [ENSMUST00000047441] [ENSMUST00000052872] [ENSMUST00000219084]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020732
AA Change: R758G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020732
Gene: ENSMUSG00000061462
AA Change: R758G

DomainStartEndE-ValueType
IGc2 21 88 8e-12 SMART
IGc2 121 190 8.31e-10 SMART
low complexity region 191 207 N/A INTRINSIC
IGc2 248 316 4.63e-8 SMART
IG 337 417 5.32e-8 SMART
IG_like 425 506 1.5e2 SMART
FN3 510 596 2.11e-9 SMART
IG 711 790 2.39e-1 SMART
IGc2 876 942 4.49e-6 SMART
IGc2 968 1034 2.54e-5 SMART
IGc2 1060 1126 2.54e-5 SMART
IGc2 1152 1218 4.49e-6 SMART
IGc2 1244 1310 7.82e-6 SMART
IGc2 1336 1402 5.16e-6 SMART
IGc2 1428 1494 1.93e-5 SMART
IGc2 1520 1586 1.93e-5 SMART
IGc2 1612 1678 1.93e-5 SMART
IGc2 1704 1770 1.93e-5 SMART