Mutagenetix > Incidental Mutation

Incidental Mutation 'R5329:Septin14'

422213

Institutional Source

Beutler Lab

Gene Symbol

Septin14

Ensembl Gene

ENSMUSG00000034219

Gene Name

septin 14

Synonyms

Sept14, 1700016K13Rik

MMRRC Submission

042911-MU

Accession Numbers

Essential gene?

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

Stock #

R5329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129760455-129782048 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 129762978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138729 (fasta)

Gene Model

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

AlphaFold

Q9DA97

Predicted Effect

probably null
Transcript: ENSMUST00000042266

SMART Domains

Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219

Domain	Start	End	E-Value	Type
Pfam:Septin	48	319	1.5e-97	PFAM
low complexity region	381	401	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000042266

SMART Domains

Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219

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 null
Transcript: ENSMUST00000182386

SMART Domains

Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219

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

Predicted Effect

probably null
Transcript: ENSMUST00000182386

SMART Domains

Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (61/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430005L14Rik	G	A	4: 154,044,284 (GRCm39)	V32I	probably benign	Het
Abcg4	A	T	9: 44,190,842 (GRCm39)	M19K	probably benign	Het
Acsm1	A	G	7: 119,255,274 (GRCm39)	T392A	probably benign	Het
Adam19	A	T	11: 46,015,853 (GRCm39)	I338F	probably damaging	Het
Adamdec1	C	T	14: 68,807,612 (GRCm39)	M349I	probably damaging	Het
Arhgef11	T	A	3: 87,587,059 (GRCm39)		probably benign	Het
Bptf	T	C	11: 106,964,121 (GRCm39)	D1628G	probably benign	Het
Camk2d	C	T	3: 126,391,131 (GRCm39)	Q15*	probably null	Het
Camk2g	T	G	14: 20,843,999 (GRCm39)	D12A	possibly damaging	Het
Cemip2	T	C	19: 21,775,693 (GRCm39)	I312T	probably benign	Het
Cgn	T	C	3: 94,687,300 (GRCm39)	M1V	probably null	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Dcbld1	C	A	10: 52,160,353 (GRCm39)		probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Efcab3	T	G	11: 104,644,632 (GRCm39)		probably null	Het
Espl1	T	A	15: 102,220,953 (GRCm39)	L903Q	probably damaging	Het
Gm5117	T	A	8: 32,227,910 (GRCm39)		noncoding transcript	Het
Gm5150	T	C	3: 16,017,588 (GRCm39)	T228A	probably benign	Het
Gm5435	A	T	12: 82,543,250 (GRCm39)		noncoding transcript	Het
Gpr156	T	A	16: 37,825,810 (GRCm39)	C676S	probably benign	Het
Gstt3	C	T	10: 75,610,685 (GRCm39)	E230K	possibly damaging	Het
Jarid2	A	G	13: 45,059,747 (GRCm39)	I660V	possibly damaging	Het
Kif13a	A	G	13: 46,928,877 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,902,254 (GRCm39)	V299D	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lipk	T	A	19: 33,997,613 (GRCm39)		probably null	Het
Loxhd1	T	C	18: 77,420,378 (GRCm39)	L334P	probably damaging	Het
Macc1	T	A	12: 119,410,212 (GRCm39)	Y327N	probably damaging	Het
Man2a2	G	A	7: 80,010,876 (GRCm39)	S705L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Ncam2	A	T	16: 81,231,707 (GRCm39)	Q57L	probably damaging	Het
Nedd1	T	C	10: 92,522,102 (GRCm39)	E645G	probably damaging	Het
Nfatc1	A	T	18: 80,751,332 (GRCm39)	M1K	probably null	Het
Nlrp9b	A	T	7: 19,757,916 (GRCm39)	R384S	probably damaging	Het
Nrxn3	A	G	12: 89,780,354 (GRCm39)	H62R	possibly damaging	Het
Or2h2b-ps1	T	A	17: 37,480,891 (GRCm39)	Y216F	probably damaging	Het
Or4c125	T	A	2: 89,169,803 (GRCm39)	Y281F	probably damaging	Het
Or51i1	T	C	7: 103,671,204 (GRCm39)	H107R	probably damaging	Het
Or8b39	A	T	9: 37,996,422 (GRCm39)	M97L	probably benign	Het
Or8h7	A	G	2: 86,720,964 (GRCm39)	L185S	probably damaging	Het
Pdzph1	T	A	17: 59,281,875 (GRCm39)	I136F	probably damaging	Het
Pigg	T	C	5: 108,462,026 (GRCm39)	I119T	probably damaging	Het
R3hdm2	A	G	10: 127,294,762 (GRCm39)	H215R	probably damaging	Het
Slc9a3	T	C	13: 74,299,079 (GRCm39)	M166T	possibly damaging	Het
Spock3	A	G	8: 63,798,816 (GRCm39)	D279G	probably damaging	Het
Suco	T	C	1: 161,660,999 (GRCm39)	I967V	probably damaging	Het
Tgtp1	A	G	11: 48,878,003 (GRCm39)	L234P	probably damaging	Het
Tmem176a	A	G	6: 48,819,151 (GRCm39)	D4G	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Uox	A	G	3: 146,330,300 (GRCm39)	D152G	probably damaging	Het
Vmn1r35	C	T	6: 66,656,490 (GRCm39)	W60*	probably null	Het
Vmn2r103	T	C	17: 20,032,433 (GRCm39)	C736R	probably damaging	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
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
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'- AGACCCTGCCCGATTATGTCAG -3'
(R):5'- AGCGACGCTTTGGAAATACAG -3'

Sequencing Primer
(F):5'- CTGCCCGATTATGTCAGAAAAAG -3'
(R):5'- CATCTATGTGTGCATACATGGC -3'

Posted On

2016-08-04