Mutagenetix > Incidental Mutation

Incidental Mutation 'R5725:Septin14'

452433

Institutional Source

Beutler Lab

Gene Symbol

Septin14

Ensembl Gene

ENSMUSG00000034219

Gene Name

septin 14

Synonyms

Sept14, 1700016K13Rik

MMRRC Submission

043343-MU

Accession Numbers

Essential gene?

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

Stock #

R5725 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

129760455-129782048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129766630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 317 (D317G)

Ref Sequence

ENSEMBL: ENSMUSP00000138729 (fasta)

Gene Model

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

AlphaFold

Q9DA97

Predicted Effect

probably damaging
Transcript: ENSMUST00000042266
AA Change: D318G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219
AA Change: D318G

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 damaging
Transcript: ENSMUST00000182386
AA Change: D317G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219
AA Change: D317G

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,240,093 (GRCm39)	R1301H	probably benign	Het
6030468B19Rik	G	T	11: 117,696,883 (GRCm39)	S201I	probably damaging	Het
Abca13	G	A	11: 9,527,181 (GRCm39)	M4531I	probably benign	Het
Abca2	A	G	2: 25,329,412 (GRCm39)	M1058V	probably damaging	Het
Agrn	T	A	4: 156,258,332 (GRCm39)	T938S	probably benign	Het
Aloxe3	A	T	11: 69,019,480 (GRCm39)	D131V	probably null	Het
Angptl7	C	A	4: 148,580,965 (GRCm39)	A277S	possibly damaging	Het
Ap5z1	T	C	5: 142,454,731 (GRCm39)	M244T	probably damaging	Het
Aplp2	T	C	9: 31,069,110 (GRCm39)	D573G	probably damaging	Het
Arid5a	G	T	1: 36,358,211 (GRCm39)	E176*	probably null	Het
Atp8b4	A	T	2: 126,275,856 (GRCm39)	N125K	probably benign	Het
Auts2	A	G	5: 131,468,584 (GRCm39)	V911A	probably benign	Het
Bahcc1	G	A	11: 120,165,714 (GRCm39)	R990H	probably benign	Het
Cd84	T	C	1: 171,700,928 (GRCm39)	F230L	probably benign	Het
Dtnb	T	A	12: 3,823,566 (GRCm39)	L584H	probably damaging	Het
Dync2h1	A	C	9: 7,169,528 (GRCm39)	S316R	probably benign	Het
Eif3m	A	G	2: 104,844,186 (GRCm39)	I73T	probably damaging	Het
Emilin3	A	T	2: 160,750,410 (GRCm39)	C399*	probably null	Het
Fam118a	A	G	15: 84,929,822 (GRCm39)	K17E	probably damaging	Het
Fat4	A	G	3: 38,943,774 (GRCm39)	N889S	probably damaging	Het
Hmcn2	G	A	2: 31,273,827 (GRCm39)		probably null	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Igsf21	T	C	4: 139,762,054 (GRCm39)	D208G	probably benign	Het
Itgax	A	G	7: 127,747,033 (GRCm39)	T945A	possibly damaging	Het
Itsn2	T	A	12: 4,680,767 (GRCm39)		probably benign	Het
Kcna4	A	G	2: 107,127,221 (GRCm39)	T652A	possibly damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrp4	A	G	2: 91,325,240 (GRCm39)	Y1355C	probably damaging	Het
Mmp9	C	A	2: 164,791,256 (GRCm39)	A142E	possibly damaging	Het
Mpeg1	T	C	19: 12,440,000 (GRCm39)	V486A	probably benign	Het
Mrgprb3	A	T	7: 48,293,548 (GRCm39)	M1K	probably null	Het
Mrtfb	A	T	16: 13,202,174 (GRCm39)	K146*	probably null	Het
Nacad	T	C	11: 6,551,643 (GRCm39)	E516G	probably benign	Het
Or5k15	G	A	16: 58,710,250 (GRCm39)	T111I	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pappa	T	A	4: 65,107,647 (GRCm39)	V686E	probably damaging	Het
Polr3a	A	T	14: 24,515,455 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,719,348 (GRCm39)	V522A	probably benign	Het
Rab6b	T	A	9: 103,041,061 (GRCm39)	F152I	probably damaging	Het
Sacs	G	A	14: 61,448,559 (GRCm39)	R3535Q	probably damaging	Het
Sin3b	T	C	8: 73,452,320 (GRCm39)		probably null	Het
Sis	G	A	3: 72,872,931 (GRCm39)	P69L	probably damaging	Het
Slc12a3	G	T	8: 95,057,074 (GRCm39)	V116L	probably benign	Het
Slc16a12	A	T	19: 34,652,227 (GRCm39)	F306L	probably damaging	Het
Slc39a12	T	C	2: 14,394,075 (GRCm39)		probably benign	Het
Smg6	A	G	11: 74,821,439 (GRCm39)	Q570R	probably benign	Het
Sptb	G	A	12: 76,669,888 (GRCm39)	A480V	probably benign	Het
Srsf4	C	A	4: 131,628,262 (GRCm39)		probably benign	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trav19	A	C	14: 54,082,999 (GRCm39)	T25P	possibly damaging	Het
Trim3	A	G	7: 105,266,947 (GRCm39)		probably null	Het
Ugt2a2	T	C	5: 87,622,755 (GRCm39)	N281S	probably damaging	Het
Vmn1r12	A	G	6: 57,136,694 (GRCm39)	I264V	probably benign	Het
Vmn2r94	T	A	17: 18,476,489 (GRCm39)	I403F	possibly damaging	Het
Zzef1	G	A	11: 72,746,308 (GRCm39)	R870Q	possibly 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
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
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'- CTTGAAGTGAGCGTGCCTTG -3'
(R):5'- CAGATGGTAGAAAGCTTATTCAGG -3'

Sequencing Primer
(F):5'- GCCTTGTTTTATGGGAGTTCTAAATG -3'
(R):5'- GGATTTGCTTCTGTCCAC -3'

Posted On

2017-01-03