Incidental Mutation 'R6790:Stmn1'
ID 532545
Institutional Source Beutler Lab
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
MMRRC Submission 044903-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6790 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134195631-134201154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134198125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 54 (L54S)
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: L54S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030636
Gene: ENSMUSG00000028832
AA Change: L54S

DomainStartEndE-ValueType
Pfam:Stathmin 4 143 1.3e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105867
AA Change: L54S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101493
Gene: ENSMUSG00000028832
AA Change: L54S

DomainStartEndE-ValueType
Pfam:Stathmin 4 141 3e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105868
AA Change: L54S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101494
Gene: ENSMUSG00000028832
AA Change: L54S

DomainStartEndE-ValueType
Pfam:Stathmin 7 140 2.2e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127279
AA Change: L54S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119547
Gene: ENSMUSG00000028832
AA Change: L54S

DomainStartEndE-ValueType
Pfam:Stathmin 4 102 2.9e-58 PFAM
Meta Mutation Damage Score 0.4504 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (32/32)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T A 4: 155,987,448 (GRCm39) S457T probably damaging Het
Adgrf3 A G 5: 30,401,385 (GRCm39) V881A probably benign Het
Ankrd65 T G 4: 155,877,260 (GRCm39) probably null Het
Ascc3 A G 10: 50,521,808 (GRCm39) E441G probably damaging Het
Atf5 A T 7: 44,462,679 (GRCm39) probably null Het
Cfap97 G T 8: 46,623,113 (GRCm39) V168L possibly damaging Het
Crh T G 3: 19,748,459 (GRCm39) E61A probably damaging Het
Cx3cr1 C T 9: 119,880,833 (GRCm39) V190M probably damaging Het
Cyp3a59 A C 5: 146,033,143 (GRCm39) M172L probably benign Het
Dnm1 T C 2: 32,223,079 (GRCm39) K445R probably damaging Het
Eng C A 2: 32,559,457 (GRCm39) T82N probably damaging Het
Fkbp15 T C 4: 62,222,996 (GRCm39) T968A probably benign Het
Fsip2 A G 2: 82,821,283 (GRCm39) N5672S possibly damaging Het
Gm21149 A C 5: 15,677,103 (GRCm39) D250E unknown Het
Gon4l A G 3: 88,766,305 (GRCm39) E448G probably damaging Het
Hrnr T C 3: 93,236,382 (GRCm39) S2207P unknown Het
Itga4 C A 2: 79,155,958 (GRCm39) H975N probably benign Het
Kdm4c A G 4: 74,309,698 (GRCm39) K954E probably damaging Het
Lrrc20 G T 10: 61,362,898 (GRCm39) V48F probably damaging Het
Mga A G 2: 119,754,235 (GRCm39) I915V probably damaging Het
Npc1l1 C T 11: 6,164,260 (GRCm39) probably null Het
Nup50l T C 6: 96,142,304 (GRCm39) T247A probably benign Het
Or3a1b T A 11: 74,012,427 (GRCm39) L104H probably damaging Het
Pate13 G T 9: 35,820,127 (GRCm39) probably benign Het
Per2 C T 1: 91,373,261 (GRCm39) V176I probably benign Het
Pira2 A C 7: 3,845,442 (GRCm39) V314G probably damaging Het
Potefam3e A T 8: 19,779,801 (GRCm39) I14F probably benign Het
Rims1 T C 1: 22,507,278 (GRCm39) D624G probably damaging Het
Secisbp2 A G 13: 51,824,939 (GRCm39) T396A probably benign Het
Slc28a3 T C 13: 58,730,464 (GRCm39) D84G probably benign Het
Slc8a3 T C 12: 81,361,206 (GRCm39) T538A probably benign Het
Slk T A 19: 47,624,007 (GRCm39) C991S probably damaging Het
Tuft1 C G 3: 94,535,537 (GRCm39) E128D possibly damaging Het
Ugt8a T C 3: 125,665,340 (GRCm39) T386A possibly damaging Het
Zdhhc20 A G 14: 58,127,600 (GRCm39) V13A probably benign Het
Other mutations in Stmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Stmn1 APN 4 134,200,224 (GRCm39) missense probably damaging 1.00
Milk UTSW 4 134,198,125 (GRCm39) missense probably damaging 1.00
R4836:Stmn1 UTSW 4 134,197,495 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- ATCATGCATCTGATCAACTCCAG -3'
(R):5'- ACGAGAAAGCTCCTGAGGTG -3'

Sequencing Primer
(F):5'- CTGATCAACTCCAGATATTCAGGTG -3'
(R):5'- CATTAAACGATGGCTGCTGC -3'
Posted On 2018-08-29