Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Sept14'

174087

Institutional Source

Beutler Lab

Gene Symbol

Sept14

Ensembl Gene

ENSMUSG00000034219

Gene Name

septin 14

Synonyms

1700016K13Rik

MMRRC Submission

039685-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129683391-129708512 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129697755 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 119 (N119D)

Ref Sequence

ENSEMBL: ENSMUSP00000138729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042266] [ENSMUST00000182386]

Predicted Effect

probably benign
Transcript: ENSMUST00000042266
AA Change: N119D

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219
AA Change: N119D

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000182386
AA Change: N119D

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219
AA Change: N119D

Domain	Start	End	E-Value	Type
Pfam:Septin	48	318	3.8e-99	PFAM
low complexity region	380	400	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	probably benign	Het

Other mutations in Sept14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7703:Sept14	UTSW	5	129686028	missense	possibly damaging	0.63
R7734:Sept14	UTSW	5	129683519	missense	probably benign
R8316:Sept14	UTSW	5	129696130	missense	probably damaging	0.99
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'- GTAACATGCCATATGCCTTTGCTTCG -3'
(R):5'- GTTCCCTACAGGAGAAACTGGAATTGG -3'

Sequencing Primer
(F):5'- acaccttcaatcccagcac -3'
(R):5'- CTGGAATTGGAAAAACAACCCTG -3'

Posted On

2014-04-24