Incidental Mutation 'R7703:Sept14'
ID594114
Institutional Source Beutler Lab
Gene Symbol Sept14
Ensembl Gene ENSMUSG00000034219
Gene Nameseptin 14
Synonyms1700016K13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.270) question?
Stock #R7703 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location129683391-129708512 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129686028 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 334 (A334T)
Ref Sequence ENSEMBL: ENSMUSP00000044272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042266] [ENSMUST00000182386]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042266
AA Change: A334T

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219
AA Change: A334T

DomainStartEndE-ValueType
Pfam:Septin 48 319 1.5e-97 PFAM
low complexity region 381 401 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182386
AA Change: A333T

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219
AA Change: A333T

DomainStartEndE-ValueType
Pfam:Septin 48 318 3.8e-99 PFAM
low complexity region 380 400 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T C 11: 58,425,767 I191T probably damaging Het
2310003L06Rik T C 5: 87,972,812 L476P possibly damaging Het
Aasdh T C 5: 76,888,077 D387G probably damaging Het
Ahsa2 T A 11: 23,490,415 T327S probably benign Het
Ap3d1 A T 10: 80,717,844 V523E probably damaging Het
Baz2b C A 2: 59,917,425 R1298L probably damaging Het
Cacna2d3 T C 14: 29,043,546 T802A possibly damaging Het
Cdh23 G T 10: 60,337,264 T1714K probably damaging Het
Chrna3 A T 9: 55,016,124 D133E probably benign Het
Cnot1 C T 8: 95,760,098 probably null Het
Col16a1 A T 4: 130,096,502 N1396Y unknown Het
Cox11 A G 11: 90,638,419 N77S probably benign Het
Ctsf T G 19: 4,856,539 F165V probably damaging Het
Cytip A G 2: 58,147,908 V148A probably damaging Het
Diaph1 T C 18: 37,890,809 I659V unknown Het
Dmxl2 A T 9: 54,461,086 M26K probably benign Het
Erp44 T A 4: 48,196,904 I340F probably benign Het
Fam186a A G 15: 99,954,797 M180T unknown Het
Frem2 C T 3: 53,522,168 V2793I probably benign Het
Gm19410 A G 8: 35,799,385 E1064G probably damaging Het
Gria4 T C 9: 4,503,588 I343V probably benign Het
Grsf1 T A 5: 88,671,291 N228Y probably damaging Het
Hist2h3b C A 3: 96,268,993 Y100* probably null Het
Ighv1-18 A T 12: 114,682,761 N74K probably benign Het
Kcnh6 A T 11: 106,023,877 T703S probably benign Het
Lrp1b T A 2: 41,110,786 D2256V Het
Lrrc63 T C 14: 75,123,007 T352A possibly damaging Het
Lztfl1 T C 9: 123,702,129 E258G probably damaging Het
Mcph1 T C 8: 18,671,106 I650T possibly damaging Het
Mep1a T C 17: 43,478,106 D606G possibly damaging Het
Muc16 T C 9: 18,605,282 I313M Het
Myh7b A G 2: 155,620,436 Y353C probably null Het
Nfatc1 A G 18: 80,682,289 L420P probably damaging Het
Olfml1 A G 7: 107,571,185 E93G probably damaging Het
Olfr251 A G 9: 38,378,061 H54R probably benign Het
Olfr449 A T 6: 42,838,004 E41V probably damaging Het
Pax1 A T 2: 147,366,114 N214I probably damaging Het
Pcdhb17 C A 18: 37,486,748 H530Q probably benign Het
Pcdhgb7 A T 18: 37,752,268 M164L probably benign Het
Pcolce T C 5: 137,605,212 N453S probably benign Het
Prr36 T C 8: 4,212,982 T895A probably benign Het
Ptprq C T 10: 107,644,146 V1088I probably benign Het
Rab5a T A 17: 53,500,457 F174I probably damaging Het
Rapgef4 A G 2: 72,179,971 D291G probably benign Het
Rbm25 A T 12: 83,675,090 K683N possibly damaging Het
Rbpj T C 5: 53,645,898 I156T probably damaging Het
Rgsl1 A G 1: 153,793,864 S259P possibly damaging Het
Ring1 T C 17: 34,023,135 D100G probably damaging Het
Ryr3 A T 2: 112,859,765 D1166E probably damaging Het
Sacs A G 14: 61,206,090 K1862E possibly damaging Het
Scamp5 A G 9: 57,447,182 I63T possibly damaging Het
Sh3rf2 A T 18: 42,156,136 Q706L probably benign Het
Skap2 A T 6: 51,907,954 H242Q probably benign Het
Tfpt A G 7: 3,620,745 probably null Het
Thegl T C 5: 77,016,597 I149T probably benign Het
Thg1l T G 11: 45,955,293 D58A probably damaging Het
Thyn1 A G 9: 27,006,847 E177G probably benign Het
Tmem151b C T 17: 45,545,798 A239T probably damaging Het
Ttc21a T C 9: 119,959,029 V840A probably benign Het
Usp32 A T 11: 85,077,327 V170E probably damaging Het
Vmn2r29 A G 7: 7,231,865 V674A probably benign Het
Vwa8 A G 14: 79,026,073 N781S probably damaging Het
Zbtb7c C A 18: 76,137,362 Q174K probably benign Het
Zeb1 T C 18: 5,766,917 I476T probably benign Het
Zfp91 A T 19: 12,776,877 D282E probably benign Het
Other mutations in Sept14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Sept14 APN 5 129683651 missense probably benign 0.26
IGL01622:Sept14 APN 5 129685955 missense probably damaging 0.99
IGL01623:Sept14 APN 5 129685955 missense probably damaging 0.99
IGL03088:Sept14 APN 5 129697733 splice site probably benign
R0658:Sept14 UTSW 5 129697908 missense probably benign 0.30
R1485:Sept14 UTSW 5 129693054 missense probably damaging 1.00
R1649:Sept14 UTSW 5 129697755 missense probably benign 0.19
R2518:Sept14 UTSW 5 129699035 missense probably benign
R2973:Sept14 UTSW 5 129699022 missense probably benign 0.42
R4679:Sept14 UTSW 5 129693026 missense possibly damaging 0.89
R4906:Sept14 UTSW 5 129692966 missense probably benign 0.39
R5004:Sept14 UTSW 5 129692976 missense possibly damaging 0.88
R5303:Sept14 UTSW 5 129689648 missense possibly damaging 0.79
R5329:Sept14 UTSW 5 129685914 critical splice donor site probably null
R5393:Sept14 UTSW 5 129683586 missense probably benign 0.01
R5542:Sept14 UTSW 5 129697862 missense probably damaging 1.00
R5725:Sept14 UTSW 5 129689566 missense probably damaging 1.00
R6750:Sept14 UTSW 5 129696117 missense probably damaging 1.00
R6796:Sept14 UTSW 5 129697758 missense probably benign 0.05
R6815:Sept14 UTSW 5 129692987 missense probably benign
R7064:Sept14 UTSW 5 129697806 missense probably benign 0.00
R7734:Sept14 UTSW 5 129683519 missense probably benign
X0066:Sept14 UTSW 5 129689538 critical splice donor site probably null
Z1177:Sept14 UTSW 5 129689564 missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- CTCTAGAATGTATCCCCTAGAGGAAG -3'
(R):5'- GAGCGACGCTTTGGAAATACAG -3'

Sequencing Primer
(F):5'- TGTATCCCCTAGAGGAAGAAGAAG -3'
(R):5'- CATCTATGTGTGCATACATGGC -3'
Posted On2019-11-12