Incidental Mutation 'R6796:Sept14'
ID533006
Institutional Source Beutler Lab
Gene Symbol Sept14
Ensembl Gene ENSMUSG00000034219
Gene Nameseptin 14
Synonyms1700016K13Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #R6796 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location129683391-129708512 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 129697758 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 118 (I118L)
Ref Sequence ENSEMBL: ENSMUSP00000138729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042266] [ENSMUST00000182386]
Predicted Effect probably benign
Transcript: ENSMUST00000042266
AA Change: I118L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219
AA Change: I118L

DomainStartEndE-ValueType
Pfam:Septin 48 319 1.5e-97 PFAM
low complexity region 381 401 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182386
AA Change: I118L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219
AA Change: I118L

DomainStartEndE-ValueType
Pfam:Septin 48 318 3.8e-99 PFAM
low complexity region 380 400 N/A INTRINSIC
Meta Mutation Damage Score 0.01 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,472,478 V3950A probably damaging Het
App A G 16: 85,120,567 I63T probably damaging Het
Bpifb4 A T 2: 153,961,547 K381N probably damaging Het
Cdc45 C T 16: 18,784,857 A529T probably damaging Het
Cdh18 T A 15: 23,446,073 N536K probably damaging Het
Dpy19l1 C A 9: 24,502,862 R90L possibly damaging Het
E2f3 A G 13: 29,918,585 V231A possibly damaging Het
F930015N05Rik A T 11: 64,435,403 probably benign Het
Fcer2a T C 8: 3,689,830 H47R possibly damaging Het
Hcar2 A G 5: 123,865,267 S58P probably benign Het
Hivep3 A G 4: 120,096,361 T625A possibly damaging Het
Insrr C T 3: 87,813,566 R1044C probably damaging Het
Itgax C T 7: 128,135,064 A336V probably damaging Het
Lin37 A T 7: 30,556,916 V140E probably damaging Het
Malrd1 T A 2: 15,869,784 I1341K unknown Het
Map4k5 T C 12: 69,818,025 I561V probably benign Het
Mcc A G 18: 44,724,560 S163P probably benign Het
Nlrp12 T C 7: 3,241,409 T158A probably damaging Het
Olfr1440 A T 19: 12,394,928 I222F probably damaging Het
Olfr1475 A G 19: 13,479,914 C95R probably damaging Het
Paqr5 C T 9: 61,963,783 R171Q probably damaging Het
Pax8 A T 2: 24,441,086 M200K probably benign Het
Plcd4 T C 1: 74,562,070 S498P probably benign Het
Poglut1 T C 16: 38,529,610 Y267C probably damaging Het
Pom121l2 T C 13: 21,983,524 I655T probably benign Het
Proca1 G T 11: 78,194,928 R19L probably benign Het
Prr30 A G 14: 101,198,944 S61P probably benign Het
Ranbp17 T C 11: 33,217,398 S1022G probably benign Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rpgrip1 A G 14: 52,150,012 H1037R probably damaging Het
Rpl34 G T 3: 130,729,277 T6K probably damaging Het
Scaper T C 9: 55,864,427 T402A probably benign Het
Selenow A T 7: 15,920,071 V52E probably damaging Het
Sis A T 3: 72,965,618 N62K probably benign Het
Sit1 A T 4: 43,482,761 C133S probably benign Het
Susd3 ACC AC 13: 49,237,565 probably null Het
Svep1 A G 4: 58,064,275 V3236A probably benign Het
Taf12 G A 4: 132,289,414 V168I possibly damaging Het
Tas2r139 A T 6: 42,141,592 R219S probably damaging Het
Tmc1 A T 19: 20,799,036 V653D probably damaging Het
Utp23 T A 15: 51,877,611 L30Q probably damaging 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
R6815:Sept14 UTSW 5 129692987 missense probably benign
R7064:Sept14 UTSW 5 129697806 missense probably benign 0.00
X0066:Sept14 UTSW 5 129689538 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCATTTAGTCTTCTCAGTAAAGGGG -3'
(R):5'- CCCTACAGGAGAAACTGGAATTGG -3'

Sequencing Primer
(F):5'- AGAGCTATCTGGCGTCAAGTC -3'
(R):5'- TGGAATTGGAAAAACAACCCTGATC -3'
Posted On2018-08-29