Mutagenetix > Incidental Mutation

Incidental Mutation 'R1649:Septin14'

174087

Institutional Source

Beutler Lab

Gene Symbol

Septin14

Ensembl Gene

ENSMUSG00000034219

Gene Name

septin 14

Synonyms

Sept14, 1700016K13Rik

MMRRC Submission

039685-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129760455-129782048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129774819 bp (GRCm39)

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]

AlphaFold

Q9DA97

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
Akr1a1	T	A	4: 116,495,217 (GRCm39)	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,541,371 (GRCm39)	V255A	probably benign	Het
Ambn	T	A	5: 88,612,340 (GRCm39)	M172K	probably benign	Het
Arhgef18	A	G	8: 3,439,094 (GRCm39)		probably benign	Het
BC034090	T	C	1: 155,101,319 (GRCm39)	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,959,122 (GRCm39)	D707E	probably benign	Het
C6	T	C	15: 4,764,739 (GRCm39)	L145P	possibly damaging	Het
Cav3	T	A	6: 112,449,207 (GRCm39)	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,339,939 (GRCm39)	D205E	probably benign	Het
Cdadc1	T	C	14: 59,811,242 (GRCm39)	T423A	probably damaging	Het
Cep120	A	T	18: 53,857,648 (GRCm39)	H272Q	probably damaging	Het
Chd9	A	T	8: 91,659,229 (GRCm39)	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,460,228 (GRCm39)		probably benign	Het
Cramp1	G	T	17: 25,202,217 (GRCm39)	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,966,943 (GRCm39)	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,158,366 (GRCm39)	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,545,663 (GRCm39)		probably benign	Het
Ern2	G	A	7: 121,776,623 (GRCm39)	P366S	probably damaging	Het
Gm1527	T	C	3: 28,952,880 (GRCm39)	I60T	probably damaging	Het
Gse1	T	C	8: 121,305,254 (GRCm39)		probably benign	Het
Ildr1	T	C	16: 36,528,681 (GRCm39)	L42P	probably damaging	Het
Itih2	G	A	2: 10,110,546 (GRCm39)	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309 (GRCm39)	P357Q	probably damaging	Het
Kitl	A	G	10: 99,899,976 (GRCm39)	T94A	probably benign	Het
Klri1	C	T	6: 129,675,204 (GRCm39)	M185I	probably benign	Het
Lsamp	A	T	16: 41,775,661 (GRCm39)	M171L	probably benign	Het
Macf1	T	G	4: 123,377,846 (GRCm39)	I1460L	probably damaging	Het
Map1b	C	G	13: 99,652,986 (GRCm39)	V4L	probably benign	Het
Mboat7	A	T	7: 3,688,817 (GRCm39)	V237D	probably benign	Het
Mctp2	A	T	7: 71,811,006 (GRCm39)	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,830,301 (GRCm39)	I205N	probably damaging	Het
Nsd2	T	C	5: 34,011,984 (GRCm39)	V264A	probably damaging	Het
Oacyl	C	T	18: 65,883,167 (GRCm39)	T582I	probably damaging	Het
Olfm1	A	T	2: 28,119,279 (GRCm39)	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,249,422 (GRCm39)	E180K	probably damaging	Het
Or14j6	T	C	17: 38,215,060 (GRCm39)	F208L	probably benign	Het
Or2ad1	A	T	13: 21,326,912 (GRCm39)	L105Q	probably damaging	Het
Or8g17	T	G	9: 38,930,776 (GRCm39)	Q20H	probably benign	Het
Parp4	T	A	14: 56,827,885 (GRCm39)	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,648,666 (GRCm39)	N598K	probably damaging	Het
Piezo2	C	A	18: 63,250,743 (GRCm39)	W452L	probably benign	Het
Plec	C	A	15: 76,090,011 (GRCm39)	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,191,320 (GRCm39)	Y144H	probably damaging	Het
Ptgdr	T	C	14: 45,095,959 (GRCm39)	H251R	probably benign	Het
Ptpro	T	A	6: 137,421,015 (GRCm39)	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,726,573 (GRCm39)	D247G	probably damaging	Het
Robo2	T	C	16: 73,695,889 (GRCm39)	E1418G	probably benign	Het
Rtp3	T	C	9: 110,815,772 (GRCm39)	T198A	probably benign	Het
Sec16a	A	T	2: 26,315,536 (GRCm39)	V1767D	probably damaging	Het
Serpina5	A	T	12: 104,071,484 (GRCm39)	T364S	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,716,348 (GRCm39)	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,586,010 (GRCm39)	G443C	probably damaging	Het
Spag9	T	A	11: 93,999,278 (GRCm39)		probably null	Het
Sptbn1	T	C	11: 30,087,301 (GRCm39)	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,237,540 (GRCm39)	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,587,103 (GRCm39)	T184S	probably damaging	Het
Tpi1	A	T	6: 124,789,891 (GRCm39)		probably null	Het
Tssk5	T	C	15: 76,258,003 (GRCm39)	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,736,629 (GRCm39)	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,969,788 (GRCm39)	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,049,623 (GRCm39)	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,829,224 (GRCm39)	V927E	probably damaging	Het
Zfp618	T	C	4: 63,013,774 (GRCm39)	F213S	probably damaging	Het
Zfp759	T	A	13: 67,287,668 (GRCm39)	N406K	probably benign	Het

Other mutations in Septin14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Septin14	APN	5	129,760,715 (GRCm39)	missense	probably benign	0.26
IGL01622:Septin14	APN	5	129,763,019 (GRCm39)	missense	probably damaging	0.99
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
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

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