Incidental Mutation 'IGL02230:Stmn1'
ID285668
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stmn1
Ensembl Gene ENSMUSG00000028832
Gene Namestathmin 1
Synonymspig, p19, 19K, PP18, Lag, op18, Lap18, prosolin, leukemia associated phosphoprotein p18, oncoprotein18, PP17, metablastin, SMN, PR22, p18
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02230
Quality Score
Status
Chromosome4
Chromosomal Location134468320-134473843 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134472913 bp
ZygosityHeterozygous
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]
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: 80,171,830 T727S probably benign Het
Cyp4a12b A T 4: 115,433,996 I374F probably damaging Het
Ecel1 T C 1: 87,152,194 N399S probably damaging Het
Fpr-rs3 T C 17: 20,623,928 E317G probably damaging Het
Gm10030 T A 9: 111,006,390 noncoding transcript Het
Gm4884 A T 7: 41,043,405 Q266L probably damaging Het
Gpr45 C A 1: 43,032,656 A153E probably damaging Het
Hc A G 2: 35,013,670 F991L probably benign Het
Hif1a T G 12: 73,932,450 D249E probably damaging Het
Hsd17b12 A G 2: 94,045,398 L194P possibly damaging Het
Hspg2 T C 4: 137,518,645 S947P probably damaging Het
Kng1 G T 16: 23,060,494 probably null Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc4 T A 6: 28,830,880 K245N probably damaging Het
Mdga2 G A 12: 66,655,423 R335* probably null Het
Naa16 A T 14: 79,377,361 probably benign Het
Ncbp1 C A 4: 46,165,272 N528K probably benign Het
Olfr57 T A 10: 79,035,042 M82K probably damaging Het
Olfr714 A G 7: 107,074,493 I222V probably damaging Het
Pipox A G 11: 77,881,206 L364P probably damaging Het
R3hdm4 C A 10: 79,912,091 A206S probably damaging Het
Rasgrf2 A G 13: 91,988,026 I589T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 E24G probably damaging Het
Sec24a T C 11: 51,709,034 I815V possibly damaging Het
Serpina16 A G 12: 103,675,302 Y55H probably damaging Het
Sirt2 C T 7: 28,778,946 R83C probably damaging Het
Sntg1 A T 1: 8,681,971 probably null Het
Tas2r103 T C 6: 133,037,056 I16V possibly damaging Het
Vit A G 17: 78,619,627 K334E probably damaging Het
Washc4 T C 10: 83,581,369 I876T probably benign Het
Wrn A T 8: 33,317,563 V289D probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Stmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Milk UTSW 4 134470814 missense probably damaging 1.00
R4836:Stmn1 UTSW 4 134470184 splice site probably benign
R6790:Stmn1 UTSW 4 134470814 missense probably damaging 1.00
R7136:Stmn1 UTSW 4 134470777 missense probably damaging 0.99
Posted On2015-04-16