Mutagenetix > Incidental Mutation

Incidental Mutation 'R9070:Septin7'

723538

Institutional Source

Beutler Lab

Gene Symbol

Septin7

Ensembl Gene

ENSMUSG00000001833

Gene Name

septin 7

Synonyms

Cdc10, Sept7

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9070 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25163735-25219867 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 25175507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115272] [ENSMUST00000165594]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115272

SMART Domains

Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Septin	47	323	1.7e-126	PFAM
Pfam:MMR_HSR1	52	252	2.5e-8	PFAM
low complexity region	349	371	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165594

SMART Domains

Protein: ENSMUSP00000127641
Gene: ENSMUSG00000001833

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Septin	47	323	1.6e-126	PFAM
Pfam:MMR_HSR1	52	197	4.9e-8	PFAM
low complexity region	349	371	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons exhibit reduced axon and dendrite length and complexity. Mice homozygous for a knock-out allele die prior to E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	C	16: 35,100,770 (GRCm39)	L774P	probably damaging	Het
Aldh2	T	C	5: 121,707,032 (GRCm39)	E495G	probably damaging	Het
Als2cl	T	C	9: 110,718,288 (GRCm39)	V343A	probably benign	Het
Antxrl	T	A	14: 33,793,671 (GRCm39)	C466*	probably null	Het
Aoc1l3	A	G	6: 48,965,329 (GRCm39)	N446D	possibly damaging	Het
Arc	A	G	15: 74,543,833 (GRCm39)	L130P	probably damaging	Het
Barhl1	C	A	2: 28,805,423 (GRCm39)	R90L	probably benign	Het
Baz2a	A	G	10: 127,958,931 (GRCm39)	M1149V	probably benign	Het
Bsn	G	A	9: 107,987,295 (GRCm39)	S106L		Het
Calu	A	G	6: 29,356,567 (GRCm39)	E31G	probably benign	Het
Cdh23	T	G	10: 60,173,539 (GRCm39)	I1650L	probably benign	Het
Ceacam9	T	C	7: 16,457,787 (GRCm39)	V100A	possibly damaging	Het
Dnaaf9	A	T	2: 130,654,793 (GRCm39)	S159R	possibly damaging	Het
Dpyd	T	G	3: 118,792,892 (GRCm39)	I533S	probably damaging	Het
Fam184a	T	C	10: 53,514,373 (GRCm39)	D1016G	possibly damaging	Het
Fv1	T	A	4: 147,954,414 (GRCm39)	W327R	probably damaging	Het
Gbp7	A	G	3: 142,249,762 (GRCm39)	D411G	probably benign	Het
Gldc	A	T	19: 30,080,404 (GRCm39)	D885E	probably damaging	Het
H4c3	A	G	13: 23,882,170 (GRCm39)	V88A	probably damaging	Het
Hdgfl2	T	C	17: 56,389,371 (GRCm39)	W82R	possibly damaging	Het
Hif1an	A	G	19: 44,551,458 (GRCm39)	S48G	probably benign	Het
Itgal	C	T	7: 126,927,873 (GRCm39)	R1023W	probably null	Het
Kif13a	C	A	13: 46,905,934 (GRCm39)	A1618S	probably benign	Het
Lrrc57	A	G	2: 120,436,565 (GRCm39)	L181P	probably damaging	Het
Mptx2	T	A	1: 173,102,119 (GRCm39)	D190V	probably benign	Het
Mroh5	A	G	15: 73,656,688 (GRCm39)	F590L	probably damaging	Het
Net1	A	G	13: 3,936,103 (GRCm39)	I381T	probably damaging	Het
Nipbl	T	A	15: 8,368,215 (GRCm39)	K1169I	possibly damaging	Het
Nop9	G	A	14: 55,990,757 (GRCm39)	R563H	probably damaging	Het
Obscn	A	T	11: 59,013,457 (GRCm39)	L1130Q	probably damaging	Het
Or1j13	A	T	2: 36,369,268 (GRCm39)	S291R	probably damaging	Het
Or2b2b	A	T	13: 21,858,985 (GRCm39)	M43K	probably benign	Het
Pcgf1	T	A	6: 83,057,076 (GRCm39)	H202Q	probably damaging	Het
Pcnx3	A	G	19: 5,715,601 (GRCm39)	L1883P	probably benign	Het
Pde4b	T	C	4: 102,458,994 (GRCm39)	S505P	probably damaging	Het
Pitpnm2	C	A	5: 124,259,375 (GRCm39)	R1320L	probably damaging	Het
Plscr4	C	A	9: 92,372,281 (GRCm39)		probably benign	Het
Pot1a	C	T	6: 25,744,629 (GRCm39)	R625Q		Het
Pou4f1	A	G	14: 104,704,067 (GRCm39)	S122P	probably damaging	Het
Ppl	A	G	16: 4,907,208 (GRCm39)	V1029A	probably benign	Het
Prex1	A	G	2: 166,427,707 (GRCm39)	F982L	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rbks	A	G	5: 31,854,890 (GRCm39)	V19A	probably benign	Het
Rps18-ps5	A	G	13: 28,441,902 (GRCm39)	Y95C	probably benign	Het
Rps20	A	T	4: 3,835,280 (GRCm39)	D5E	probably benign	Het
Sacs	C	A	14: 61,447,751 (GRCm39)	P3266T	probably benign	Het
Slc28a2b	A	G	2: 122,352,154 (GRCm39)	T331A	probably damaging	Het
Tasor	T	C	14: 27,194,484 (GRCm39)	V1228A	probably benign	Het
Trdv5	T	C	14: 54,386,258 (GRCm39)	D69G	probably damaging	Het
Treml4	G	T	17: 48,576,781 (GRCm39)	G180C	probably damaging	Het

Other mutations in Septin7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02692:Septin7	APN	9	25,207,786 (GRCm39)	splice site	probably benign
R0331:Septin7	UTSW	9	25,217,552 (GRCm39)	missense	probably benign	0.00
R1590:Septin7	UTSW	9	25,188,900 (GRCm39)	missense	probably damaging	0.99
R2040:Septin7	UTSW	9	25,199,532 (GRCm39)	missense	possibly damaging	0.79
R4935:Septin7	UTSW	9	25,217,468 (GRCm39)	missense	probably benign	0.03
R5246:Septin7	UTSW	9	25,210,832 (GRCm39)	missense	probably damaging	1.00
R5426:Septin7	UTSW	9	25,197,986 (GRCm39)	missense	possibly damaging	0.92
R5629:Septin7	UTSW	9	25,199,589 (GRCm39)	missense	probably damaging	1.00
R5994:Septin7	UTSW	9	25,199,494 (GRCm39)	missense	possibly damaging	0.52
R6177:Septin7	UTSW	9	25,205,100 (GRCm39)	critical splice donor site	probably null
R6246:Septin7	UTSW	9	25,218,817 (GRCm39)	missense	probably benign	0.00
R6735:Septin7	UTSW	9	25,215,048 (GRCm39)	missense	possibly damaging	0.94
R7561:Septin7	UTSW	9	25,209,151 (GRCm39)	missense	possibly damaging	0.77
R7837:Septin7	UTSW	9	25,199,531 (GRCm39)	missense	possibly damaging	0.92
R8442:Septin7	UTSW	9	25,163,938 (GRCm39)	missense	unknown
R8852:Septin7	UTSW	9	25,163,980 (GRCm39)	missense	possibly damaging	0.68
R8860:Septin7	UTSW	9	25,163,980 (GRCm39)	missense	possibly damaging	0.68
R9138:Septin7	UTSW	9	25,212,761 (GRCm39)	missense	probably damaging	1.00
X0066:Septin7	UTSW	9	25,217,436 (GRCm39)	missense	possibly damaging	0.88
Z1176:Septin7	UTSW	9	25,163,852 (GRCm39)	start gained	probably benign
Z1177:Septin7	UTSW	9	25,212,719 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GTACATGCATATTGAGTCTGTCTCC -3'
(R):5'- AATACTGGAGACCCAAGTAGCC -3'

Sequencing Primer
(F):5'- GCTACTCCTGTTTGGACT -3'
(R):5'- GCTAATTTTGAACATATTTAGGAGCC -3'

Posted On

2022-08-18