Incidental Mutation 'IGL02209:Stmn2'
ID 284645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stmn2
Ensembl Gene ENSMUSG00000027500
Gene Name stathmin-like 2
Synonyms Scgn10, SCG10
Accession Numbers
Essential gene? Possibly essential (E-score: 0.720) question?
Stock # IGL02209
Quality Score
Status
Chromosome 3
Chromosomal Location 8509360-8561606 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 8560261 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029002]
AlphaFold P55821
Predicted Effect probably benign
Transcript: ENSMUST00000029002
SMART Domains Protein: ENSMUSP00000029002
Gene: ENSMUSG00000027500

DomainStartEndE-ValueType
Pfam:Stathmin 41 174 3.7e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194307
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 a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 35,964,009 R82Q probably damaging Het
Acmsd A G 1: 127,759,755 Y258C probably damaging Het
Anapc5 A G 5: 122,800,613 I366T possibly damaging Het
Crkl C T 16: 17,469,234 T218I probably benign Het
Egf A T 3: 129,707,307 I213K possibly damaging Het
Fry A G 5: 150,437,026 T33A probably benign Het
Garnl3 T C 2: 33,085,930 D93G probably damaging Het
Hook3 C T 8: 26,070,265 D311N probably damaging Het
Iglv3 T C 16: 19,241,670 T4A probably benign Het
Kctd17 A G 15: 78,435,592 N70S probably damaging Het
Kmt2d T C 15: 98,854,567 probably benign Het
Lrif1 A C 3: 106,731,729 L18F probably damaging Het
Mfsd1 A G 3: 67,598,132 probably benign Het
Msh4 A G 3: 153,888,862 Y101H probably damaging Het
Mycbpap G A 11: 94,509,882 probably benign Het
Myt1 A G 2: 181,797,234 D183G probably benign Het
Nppc T C 1: 86,669,665 *127W probably null Het
Olfr119 G A 17: 37,700,992 M107I probably damaging Het
Olfr138 A G 17: 38,275,232 I154V probably benign Het
Olfr356 C T 2: 36,937,505 P129S probably damaging Het
Olfr641 T G 7: 104,040,456 L220R probably damaging Het
Olfr918 T C 9: 38,673,046 K146E possibly damaging Het
Pde5a A G 3: 122,825,015 probably benign Het
Pkd1l3 T C 8: 109,638,664 V1139A probably damaging Het
Pwwp2b G A 7: 139,255,105 R154Q probably damaging Het
Satb2 C T 1: 56,871,518 V264I probably damaging Het
Slc6a2 T A 8: 92,994,060 F435Y probably benign Het
Synj1 A G 16: 90,987,419 I277T probably damaging Het
Trio C T 15: 27,744,053 A2598T probably damaging Het
Tshz2 G A 2: 169,884,764 V427M probably damaging Het
Utrn A G 10: 12,683,295 S1405P probably damaging Het
Vmn1r173 G A 7: 23,703,161 V274I probably benign Het
Vmn2r116 T C 17: 23,388,787 F443S probably damaging Het
Vps13d C A 4: 145,156,101 R974L probably damaging Het
Wapl T A 14: 34,677,261 S96T possibly damaging Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zfp692 C T 11: 58,313,998 R395* probably null Het
Other mutations in Stmn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0362:Stmn2 UTSW 3 8545690 missense probably damaging 0.99
R1885:Stmn2 UTSW 3 8541904 missense probably damaging 1.00
R1927:Stmn2 UTSW 3 8545576 missense probably benign 0.00
R2261:Stmn2 UTSW 3 8541895 missense probably damaging 0.97
R2262:Stmn2 UTSW 3 8541895 missense probably damaging 0.97
R2901:Stmn2 UTSW 3 8541921 missense probably benign
R4066:Stmn2 UTSW 3 8509608 utr 5 prime probably benign
R4938:Stmn2 UTSW 3 8545732 missense probably damaging 1.00
R5191:Stmn2 UTSW 3 8545575 missense probably benign
R7670:Stmn2 UTSW 3 8554865 missense probably damaging 1.00
R8511:Stmn2 UTSW 3 8509555 start gained probably benign
Posted On 2015-04-16