Incidental Mutation 'IGL01622:Septin14'
ID 278619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Septin14
Ensembl Gene ENSMUSG00000034219
Gene Name septin 14
Synonyms Sept14, 1700016K13Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # IGL01622
Quality Score
Status
Chromosome 5
Chromosomal Location 129760455-129782048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129763019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 357 (V357A)
Ref Sequence ENSEMBL: ENSMUSP00000138729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042266] [ENSMUST00000182386]
AlphaFold Q9DA97
Predicted Effect probably damaging
Transcript: ENSMUST00000042266
AA Change: V358A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219
AA Change: V358A

DomainStartEndE-ValueType
Pfam:Septin 48 319 1.5e-97 PFAM
low complexity region 381 401 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182381
Predicted Effect probably damaging
Transcript: ENSMUST00000182386
AA Change: V357A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219
AA Change: V357A

DomainStartEndE-ValueType
Pfam:Septin 48 318 3.8e-99 PFAM
low complexity region 380 400 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Septin14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Septin14 APN 5 129,760,715 (GRCm39) missense probably benign 0.26
IGL01623:Septin14 APN 5 129,763,019 (GRCm39) missense probably damaging 0.99
IGL03088:Septin14 APN 5 129,774,797 (GRCm39) splice site probably benign
R0658:Septin14 UTSW 5 129,774,972 (GRCm39) missense probably benign 0.30
R1485:Septin14 UTSW 5 129,770,118 (GRCm39) missense probably damaging 1.00
R1649:Septin14 UTSW 5 129,774,819 (GRCm39) missense probably benign 0.19
R2518:Septin14 UTSW 5 129,776,099 (GRCm39) missense probably benign
R2973:Septin14 UTSW 5 129,776,086 (GRCm39) missense probably benign 0.42
R4679:Septin14 UTSW 5 129,770,090 (GRCm39) missense possibly damaging 0.89
R4906:Septin14 UTSW 5 129,770,030 (GRCm39) missense probably benign 0.39
R5004:Septin14 UTSW 5 129,770,040 (GRCm39) missense possibly damaging 0.88
R5303:Septin14 UTSW 5 129,766,712 (GRCm39) missense possibly damaging 0.79
R5329:Septin14 UTSW 5 129,762,978 (GRCm39) critical splice donor site probably null
R5393:Septin14 UTSW 5 129,760,650 (GRCm39) missense probably benign 0.01
R5542:Septin14 UTSW 5 129,774,926 (GRCm39) missense probably damaging 1.00
R5725:Septin14 UTSW 5 129,766,630 (GRCm39) missense probably damaging 1.00
R6750:Septin14 UTSW 5 129,773,181 (GRCm39) missense probably damaging 1.00
R6796:Septin14 UTSW 5 129,774,822 (GRCm39) missense probably benign 0.05
R6815:Septin14 UTSW 5 129,770,051 (GRCm39) missense probably benign
R7064:Septin14 UTSW 5 129,774,870 (GRCm39) missense probably benign 0.00
R7703:Septin14 UTSW 5 129,763,092 (GRCm39) missense possibly damaging 0.63
R7734:Septin14 UTSW 5 129,760,583 (GRCm39) missense probably benign
R8316:Septin14 UTSW 5 129,773,194 (GRCm39) missense probably damaging 0.99
R8898:Septin14 UTSW 5 129,760,642 (GRCm39) missense possibly damaging 0.64
X0066:Septin14 UTSW 5 129,766,602 (GRCm39) critical splice donor site probably null
Z1177:Septin14 UTSW 5 129,766,628 (GRCm39) missense probably benign 0.35
Posted On 2015-04-16