Incidental Mutation 'R0541:Stmn4'
ID 49937
Institutional Source Beutler Lab
Gene Symbol Stmn4
Ensembl Gene ENSMUSG00000022044
Gene Name stathmin-like 4
Synonyms RB3
MMRRC Submission 038733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0541 (G1)
Quality Score 178
Status Validated
Chromosome 14
Chromosomal Location 66581745-66599129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 66595388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 165 (I165L)
Ref Sequence ENSEMBL: ENSMUSP00000113788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074523] [ENSMUST00000118426] [ENSMUST00000120229] [ENSMUST00000121955] [ENSMUST00000134440] [ENSMUST00000152093]
AlphaFold P63042
Predicted Effect probably benign
Transcript: ENSMUST00000074523
AA Change: I138L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000074113
Gene: ENSMUSG00000022044
AA Change: I138L

DomainStartEndE-ValueType
Pfam:Stathmin 48 187 1.6e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118426
AA Change: I138L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113629
Gene: ENSMUSG00000022044
AA Change: I138L

DomainStartEndE-ValueType
Pfam:Stathmin 48 176 3.9e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120229
AA Change: I165L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113759
Gene: ENSMUSG00000022044
AA Change: I165L

DomainStartEndE-ValueType
Pfam:Stathmin 78 211 3.5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121955
AA Change: I165L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113788
Gene: ENSMUSG00000022044
AA Change: I165L

DomainStartEndE-ValueType
Pfam:Stathmin 75 203 1.2e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123435
Predicted Effect probably benign
Transcript: ENSMUST00000134440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136192
Predicted Effect probably benign
Transcript: ENSMUST00000152093
Meta Mutation Damage Score 0.0739 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,872 (GRCm39) M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,227 (GRCm39) probably null Het
Abca7 C T 10: 79,843,185 (GRCm39) A1220V probably benign Het
Adamts19 G A 18: 59,060,372 (GRCm39) probably null Het
Agbl1 G A 7: 76,058,993 (GRCm39) V194M probably benign Het
Arhgap20 G T 9: 51,760,963 (GRCm39) S902I probably damaging Het
Atp11b T G 3: 35,861,093 (GRCm39) D193E probably damaging Het
B3gntl1 A T 11: 121,535,430 (GRCm39) probably benign Het
C2cd2 T C 16: 97,723,496 (GRCm39) E7G possibly damaging Het
Camta2 A G 11: 70,572,447 (GRCm39) L259P probably benign Het
Ccni T C 5: 93,335,563 (GRCm39) N192D probably benign Het
Cgnl1 A G 9: 71,558,535 (GRCm39) I946T possibly damaging Het
Chil3 T C 3: 106,068,548 (GRCm39) probably null Het
Cntn5 A G 9: 9,673,407 (GRCm39) probably benign Het
Cpn2 C T 16: 30,078,169 (GRCm39) G511S possibly damaging Het
Dagla C A 19: 10,232,170 (GRCm39) probably null Het
Dcc T C 18: 71,392,086 (GRCm39) N1440S probably damaging Het
Drosha T A 15: 12,907,474 (GRCm39) N1069K probably benign Het
Edc4 A G 8: 106,616,060 (GRCm39) T812A probably benign Het
Eml4 A G 17: 83,747,471 (GRCm39) I238V probably benign Het
Ep400 T C 5: 110,852,882 (GRCm39) T1288A unknown Het
Fastkd1 A C 2: 69,532,750 (GRCm39) L539R probably damaging Het
Fbln7 G A 2: 128,719,454 (GRCm39) probably benign Het
Fbxo39 A G 11: 72,209,297 (GRCm39) I386V probably benign Het
Gm17430 T C 18: 9,726,267 (GRCm39) K135R probably damaging Het
Gm3646 T A 1: 39,843,483 (GRCm39) T8S unknown Het
Gtsf1 A T 15: 103,329,619 (GRCm39) V100E possibly damaging Het
Helz2 A G 2: 180,876,618 (GRCm39) F1292S possibly damaging Het
Igf2bp3 G A 6: 49,084,401 (GRCm39) probably benign Het
Ip6k2 T G 9: 108,681,826 (GRCm39) D252E probably damaging Het
Iqck T A 7: 118,514,817 (GRCm39) L232Q probably damaging Het
Kif18b A G 11: 102,806,001 (GRCm39) V186A probably damaging Het
Klhl6 T A 16: 19,768,197 (GRCm39) probably null Het
Lao1 C T 4: 118,820,999 (GRCm39) T75I probably benign Het
Lyst T C 13: 13,855,878 (GRCm39) F2400L probably benign Het
Map3k9 A T 12: 81,780,997 (GRCm39) S388T possibly damaging Het
Mmp11 G T 10: 75,762,767 (GRCm39) H229N probably damaging Het
Myh7 T G 14: 55,212,158 (GRCm39) I1529L probably benign Het
Nckap5 G T 1: 126,623,459 (GRCm39) D11E possibly damaging Het
Ncoa1 A T 12: 4,373,033 (GRCm39) F123I probably damaging Het
Nelfb A T 2: 25,093,992 (GRCm39) D385E probably benign Het
Obscn C T 11: 58,972,810 (GRCm39) V2288M probably damaging Het
Or2f1b A G 6: 42,739,154 (GRCm39) H56R probably damaging Het
Or4d6 C T 19: 12,086,884 (GRCm39) V9M possibly damaging Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Otog T A 7: 45,918,673 (GRCm39) probably benign Het
Oxa1l A G 14: 54,605,646 (GRCm39) E375G possibly damaging Het
Pan2 T A 10: 128,144,091 (GRCm39) I129K possibly damaging Het
Parp1 A G 1: 180,426,616 (GRCm39) I919M probably benign Het
Pnpla7 T C 2: 24,885,305 (GRCm39) Y174H probably damaging Het
Polr3b T C 10: 84,473,928 (GRCm39) F169S probably damaging Het
Rab10 T C 12: 3,314,743 (GRCm39) D45G probably damaging Het
Reln A G 5: 22,185,107 (GRCm39) S1537P possibly damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Spidr T A 16: 15,733,229 (GRCm39) I589F probably damaging Het
Stx5a T C 19: 8,727,301 (GRCm39) M177T probably damaging Het
Tll1 T C 8: 64,491,486 (GRCm39) probably null Het
Tmem192 T C 8: 65,416,912 (GRCm39) Y168H probably damaging Het
Ttc21a C T 9: 119,785,892 (GRCm39) probably benign Het
Ush2a A G 1: 188,446,663 (GRCm39) probably benign Het
Vezf1 A G 11: 87,972,403 (GRCm39) M255V possibly damaging Het
Vmn2r25 A G 6: 123,816,786 (GRCm39) F265S probably damaging Het
Vps13a A G 19: 16,681,941 (GRCm39) S1021P probably benign Het
Wfdc16 T C 2: 164,477,773 (GRCm39) E92G possibly damaging Het
Zkscan2 T C 7: 123,079,423 (GRCm39) T845A possibly damaging Het
Other mutations in Stmn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0271:Stmn4 UTSW 14 66,593,732 (GRCm39) nonsense probably null
R1118:Stmn4 UTSW 14 66,591,844 (GRCm39) utr 5 prime probably benign
R1902:Stmn4 UTSW 14 66,593,058 (GRCm39) missense probably damaging 1.00
R4117:Stmn4 UTSW 14 66,598,581 (GRCm39) makesense probably null
R4276:Stmn4 UTSW 14 66,593,166 (GRCm39) intron probably benign
R5430:Stmn4 UTSW 14 66,595,463 (GRCm39) missense possibly damaging 0.92
R5804:Stmn4 UTSW 14 66,593,748 (GRCm39) missense probably benign
R7552:Stmn4 UTSW 14 66,593,727 (GRCm39) missense probably damaging 1.00
R7879:Stmn4 UTSW 14 66,595,388 (GRCm39) missense probably benign 0.01
R8007:Stmn4 UTSW 14 66,593,032 (GRCm39) splice site probably benign
R8233:Stmn4 UTSW 14 66,595,341 (GRCm39) missense probably damaging 1.00
R9065:Stmn4 UTSW 14 66,596,126 (GRCm39) critical splice acceptor site probably null
R9589:Stmn4 UTSW 14 66,595,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTCTGCTTCTGTGAAAGAGGAC -3'
(R):5'- CTTAGAACAATGAGGACCCTGCCTG -3'

Sequencing Primer
(F):5'- GACCAGGTTCAGGGATGC -3'
(R):5'- GGAGAAGCATTTCCATTCCTG -3'
Posted On 2013-06-12