Mutagenetix > Incidental Mutation

Incidental Mutation 'R5393:Septin14'

425953

Institutional Source

Beutler Lab

Gene Symbol

Septin14

Ensembl Gene

ENSMUSG00000034219

Gene Name

septin 14

Synonyms

Sept14, 1700016K13Rik

MMRRC Submission

042965-MU

Accession Numbers

Essential gene?

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

Stock #

R5393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129760455-129782048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129760650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 398 (E398D)

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: E399D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219
AA Change: E399D

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: E398D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219
AA Change: E398D

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

0.0898

Coding Region Coverage

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

Validation Efficiency

99% (72/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	A	T	16: 88,860,653 (GRCm39)	Y60*	probably null	Het
Abca6	T	A	11: 110,135,121 (GRCm39)	E221D	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adi1	A	G	12: 28,725,274 (GRCm39)	D8G	probably benign	Het
Adnp	T	C	2: 168,024,869 (GRCm39)	K809E	possibly damaging	Het
Aldh18a1	T	C	19: 40,574,011 (GRCm39)	H4R	probably benign	Het
Atp6v0a1	T	C	11: 100,929,633 (GRCm39)	S485P	possibly damaging	Het
C1galt1	T	C	6: 7,864,143 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,216,015 (GRCm39)	N94I	probably benign	Het
Catsperg1	T	C	7: 28,884,924 (GRCm39)	N899S	probably damaging	Het
Cilk1	A	G	9: 78,067,997 (GRCm39)	T463A	probably benign	Het
Coro2a	A	G	4: 46,542,255 (GRCm39)	S373P	probably damaging	Het
Cpsf6	G	C	10: 117,197,921 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,497,099 (GRCm39)	N3099K	probably damaging	Het
Ctla2b	T	A	13: 61,043,946 (GRCm39)	E74D	probably damaging	Het
Dnah2	T	A	11: 69,391,683 (GRCm39)	T671S	probably benign	Het
Drd5	T	A	5: 38,478,248 (GRCm39)	S414T	probably benign	Het
Dyrk2	C	T	10: 118,695,753 (GRCm39)	D502N	probably damaging	Het
Ecel1	A	T	1: 87,080,598 (GRCm39)	L376Q	possibly damaging	Het
Efcab8	G	A	2: 153,622,903 (GRCm39)	R24Q	unknown	Het
Eloc	A	C	1: 16,718,192 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,515,819 (GRCm39)		probably benign	Het
Fam89b	T	C	19: 5,778,733 (GRCm39)	D152G	probably damaging	Het
Gm15455	G	A	1: 33,875,927 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Hdac10	T	C	15: 89,010,887 (GRCm39)	Y238C	probably damaging	Het
Ighv2-5	T	C	12: 113,649,502 (GRCm39)	T12A	possibly damaging	Het
Insrr	T	C	3: 87,718,007 (GRCm39)		probably null	Het
Irf9	T	C	14: 55,843,914 (GRCm39)		probably benign	Het
Itpr2	A	T	6: 146,277,653 (GRCm39)	C280*	probably null	Het
Kcnk18	T	C	19: 59,208,271 (GRCm39)	C36R	probably damaging	Het
Khdc4	T	A	3: 88,603,913 (GRCm39)	H243Q	probably benign	Het
Klhl14	G	T	18: 21,785,051 (GRCm39)	N125K	probably benign	Het
Lce1i	T	C	3: 92,685,042 (GRCm39)	S45G	unknown	Het
Lrmda	A	C	14: 22,077,374 (GRCm39)	D37A	probably damaging	Het
Marco	A	C	1: 120,413,583 (GRCm39)	D280E	probably damaging	Het
Meak7	T	C	8: 120,499,157 (GRCm39)	I112V	probably benign	Het
Miox	C	T	15: 89,220,450 (GRCm39)	Q180*	probably null	Het
Npdc1	A	T	2: 25,298,682 (GRCm39)	M265L	probably damaging	Het
Nudcd3	T	C	11: 6,063,274 (GRCm39)	K205R	probably damaging	Het
Or2ak6	T	A	11: 58,593,326 (GRCm39)	H266Q	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Pcdhga5	C	T	18: 37,829,720 (GRCm39)	R723C	probably benign	Het
Pdlim5	T	A	3: 141,964,947 (GRCm39)	E295D	probably damaging	Het
Poli	C	A	18: 70,650,499 (GRCm39)	E314*	probably null	Het
Ptpro	A	G	6: 137,357,222 (GRCm39)	N238D	probably benign	Het
R3hdm1	A	G	1: 128,159,084 (GRCm39)	I920V	probably benign	Het
Ralgapa2	C	T	2: 146,187,375 (GRCm39)	V1338M	probably damaging	Het
Saa3	T	C	7: 46,362,085 (GRCm39)	Y53C	probably damaging	Het
Six3	T	C	17: 85,931,270 (GRCm39)	S309P	possibly damaging	Het
Slc7a14	A	G	3: 31,311,919 (GRCm39)	S34P	probably damaging	Het
Smarca2	C	A	19: 26,617,829 (GRCm39)	Q287K	probably benign	Het
Stard9	C	T	2: 120,533,387 (GRCm39)	L522F	possibly damaging	Het
Sycp1	T	C	3: 102,748,363 (GRCm39)		probably null	Het
Tbc1d8	A	T	1: 39,465,169 (GRCm39)	V73E	probably damaging	Het
Tmem120a	T	C	5: 135,765,104 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,819,370 (GRCm39)	E1251G	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt5b	A	C	6: 119,417,394 (GRCm39)	L157R	probably damaging	Het
Zbtb24	T	A	10: 41,340,578 (GRCm39)	V536E	probably damaging	Het
Zfp593	G	A	4: 133,972,615 (GRCm39)	A67V	probably benign	Het
Zfp995	A	T	17: 22,099,473 (GRCm39)	F254I	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
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
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'- TATACAGCACTCTCGTGGAGGAC -3'
(R):5'- AGCCCCGGGGTTTTAAATACG -3'

Sequencing Primer
(F):5'- GACGACACGTGCTGAAACATTTTTG -3'
(R):5'- AAATACGTTTTTCTAGGGTCATGGTC -3'

Posted On

2016-08-04