Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Septin14'

548442

Institutional Source

Beutler Lab

Gene Symbol

Septin14

Ensembl Gene

ENSMUSG00000034219

Gene Name

septin 14

Synonyms

Sept14, 1700016K13Rik

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129760455-129782048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129774870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 102 (I102V)

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: I102V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000044272
Gene: ENSMUSG00000034219
AA Change: I102V

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 benign
Transcript: ENSMUST00000182386
AA Change: I102V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000138729
Gene: ENSMUSG00000034219
AA Change: I102V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,984,746 (GRCm39)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,711,456 (GRCm39)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Cyp2a4	A	T	7: 26,011,732 (GRCm39)	M318L	probably benign	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or14j2	T	A	17: 37,885,634 (GRCm39)	R227W	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm39)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stip1	T	C	19: 7,012,925 (GRCm39)	D53G	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt13	T	A	3: 116,376,346 (GRCm39)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	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
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
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'- TCCATTTAGTCTTCTCAGTAAAGGG -3'
(R):5'- CTCTTATGCCTCTGTGATGATGAC -3'

Sequencing Primer
(F):5'- CAGTCAGTGCTGCATAGTAAGATCC -3'
(R):5'- GATGATGACTTTATGTTCCCTACAGG -3'

Posted On

2019-05-13