Incidental Mutation 'IGL02230:Stmn1'
ID 285668
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stmn1
Ensembl Gene ENSMUSG00000028832
Gene Name stathmin 1
Synonyms Lap18, leukemia associated phosphoprotein p18, prosolin, oncoprotein18, pig, metablastin, p18, p19, 19K, op18, SMN, Lag, PP17, PP18, PR22
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02230
Quality Score
Status
Chromosome 4
Chromosomal Location 134195631-134201154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134200224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 99 (E99G)
Ref Sequence ENSEMBL: ENSMUSP00000101494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030636] [ENSMUST00000105867] [ENSMUST00000105868] [ENSMUST00000127279]
AlphaFold P54227
Predicted Effect probably damaging
Transcript: ENSMUST00000030636
AA Change: E99G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030636
Gene: ENSMUSG00000028832
AA Change: E99G

DomainStartEndE-ValueType
Pfam:Stathmin 4 143 1.3e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105867
AA Change: E99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101493
Gene: ENSMUSG00000028832
AA Change: E99G

DomainStartEndE-ValueType
Pfam:Stathmin 4 141 3e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105868
AA Change: E99G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101494
Gene: ENSMUSG00000028832
AA Change: E99G

DomainStartEndE-ValueType
Pfam:Stathmin 7 140 2.2e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127279
AA Change: E99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119547
Gene: ENSMUSG00000028832
AA Change: E99G

DomainStartEndE-ValueType
Pfam:Stathmin 4 102 2.9e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175071
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 belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation appear normal as young animals, but develop a late-onset appearance of axonal lesions in the central and peripheral nervous systems. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,218,604 (GRCm39) T727S probably benign Het
Cyp4a12b A T 4: 115,291,193 (GRCm39) I374F probably damaging Het
Ecel1 T C 1: 87,079,916 (GRCm39) N399S probably damaging Het
Fpr-rs3 T C 17: 20,844,190 (GRCm39) E317G probably damaging Het
Gm10030 T A 9: 110,835,458 (GRCm39) noncoding transcript Het
Gm4884 A T 7: 40,692,829 (GRCm39) Q266L probably damaging Het
Gpr45 C A 1: 43,071,816 (GRCm39) A153E probably damaging Het
Hc A G 2: 34,903,682 (GRCm39) F991L probably benign Het
Hif1a T G 12: 73,979,224 (GRCm39) D249E probably damaging Het
Hsd17b12 A G 2: 93,875,743 (GRCm39) L194P possibly damaging Het
Hspg2 T C 4: 137,245,956 (GRCm39) S947P probably damaging Het
Kng1 G T 16: 22,879,244 (GRCm39) probably null Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc4 T A 6: 28,830,879 (GRCm39) K245N probably damaging Het
Mdga2 G A 12: 66,702,197 (GRCm39) R335* probably null Het
Naa16 A T 14: 79,614,801 (GRCm39) probably benign Het
Ncbp1 C A 4: 46,165,272 (GRCm39) N528K probably benign Het
Or10a2 A G 7: 106,673,700 (GRCm39) I222V probably damaging Het
Or7a41 T A 10: 78,870,876 (GRCm39) M82K probably damaging Het
Pipox A G 11: 77,772,032 (GRCm39) L364P probably damaging Het
R3hdm4 C A 10: 79,747,925 (GRCm39) A206S probably damaging Het
Rasgrf2 A G 13: 92,136,145 (GRCm39) I589T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 (GRCm39) E24G probably damaging Het
Sec24a T C 11: 51,599,861 (GRCm39) I815V possibly damaging Het
Serpina16 A G 12: 103,641,561 (GRCm39) Y55H probably damaging Het
Sirt2 C T 7: 28,478,371 (GRCm39) R83C probably damaging Het
Sntg1 A T 1: 8,752,195 (GRCm39) probably null Het
Tas2r103 T C 6: 133,014,019 (GRCm39) I16V possibly damaging Het
Vit A G 17: 78,927,056 (GRCm39) K334E probably damaging Het
Washc4 T C 10: 83,417,233 (GRCm39) I876T probably benign Het
Wrn A T 8: 33,807,591 (GRCm39) V289D probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Stmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Milk UTSW 4 134,198,125 (GRCm39) missense probably damaging 1.00
R4836:Stmn1 UTSW 4 134,197,495 (GRCm39) splice site probably benign
R6790:Stmn1 UTSW 4 134,198,125 (GRCm39) missense probably damaging 1.00
R7136:Stmn1 UTSW 4 134,198,088 (GRCm39) missense probably damaging 0.99
R9395:Stmn1 UTSW 4 134,200,146 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16