Incidental Mutation 'IGL03141:Cotl1'
ID410696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cotl1
Ensembl Gene ENSMUSG00000031827
Gene Namecoactosin-like 1 (Dictyostelium)
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03141
Quality Score
Status
Chromosome8
Chromosomal Location119809222-119840544 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119810283 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 131 (K131E)
Ref Sequence ENSEMBL: ENSMUSP00000126329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034285] [ENSMUST00000168698] [ENSMUST00000211873]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034285
AA Change: K131E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034285
Gene: ENSMUSG00000031827
AA Change: K131E

DomainStartEndE-ValueType
ADF 8 130 2.17e-29 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168698
AA Change: K131E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126329
Gene: ENSMUSG00000031827
AA Change: K131E

DomainStartEndE-ValueType
ADF 8 130 2.17e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212676
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T C 15: 89,323,328 I14T probably benign Het
AY761185 G A 8: 20,944,560 R51C possibly damaging Het
Cenpt T A 8: 105,851,941 T15S probably damaging Het
D5Ertd579e T A 5: 36,613,277 D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 I88K probably damaging Het
Gm11639 T C 11: 105,095,870 S5408P probably damaging Het
Gsto2 T C 19: 47,874,873 Y63H probably damaging Het
Lrp2 A T 2: 69,477,026 D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 D72A probably damaging Het
Npas1 T C 7: 16,465,138 E164G probably damaging Het
Olfr308 T A 7: 86,321,701 I84F probably damaging Het
Parp14 C A 16: 35,839,293 R1653L probably benign Het
Polq A G 16: 37,017,358 probably benign Het
Sec31b A T 19: 44,526,320 probably benign Het
Slc7a11 C T 3: 50,381,885 A337T possibly damaging Het
Snapc3 A G 4: 83,435,286 I187M probably damaging Het
Sorcs2 T C 5: 36,065,355 E352G probably benign Het
Spout1 A C 2: 30,175,055 V311G probably damaging Het
Syne1 T A 10: 5,424,261 K182M probably damaging Het
Vmn2r110 A G 17: 20,583,714 S200P possibly damaging Het
Other mutations in Cotl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0240:Cotl1 UTSW 8 119840324 nonsense probably null
R0240:Cotl1 UTSW 8 119840324 nonsense probably null
R7302:Cotl1 UTSW 8 119810301 missense probably benign 0.00
Posted On2016-08-02