Mutagenetix > Incidental Mutation

Incidental Mutation 'R4935:Septin7'

380308

Institutional Source

Beutler Lab

Gene Symbol

Septin7

Ensembl Gene

ENSMUSG00000001833

Gene Name

septin 7

Synonyms

Cdc10, Sept7

MMRRC Submission

042535-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4935 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25163735-25219867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25217468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 394 (H394R)

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
AA Change: H394R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833
AA Change: H394R

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
AA Change: H394R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000127641
Gene: ENSMUSG00000001833
AA Change: H394R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217598

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 86.9%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	G	11: 6,150,442 (GRCm39)	*138W	probably null	Het
Abcb1a	T	A	5: 8,787,773 (GRCm39)		probably null	Het
Acp6	T	C	3: 97,079,060 (GRCm39)		probably null	Het
Adcyap1	A	T	17: 93,511,541 (GRCm39)	I172L	probably benign	Het
Adgrf1	A	C	17: 43,606,130 (GRCm39)	I85L	probably benign	Het
Afdn	A	T	17: 14,111,228 (GRCm39)	T1604S	probably benign	Het
Angpt2	T	C	8: 18,742,131 (GRCm39)	Y475C	probably damaging	Het
Ank2	A	G	3: 126,749,713 (GRCm39)	S439P	probably damaging	Het
Ank3	T	A	10: 69,812,033 (GRCm39)	N366K	probably damaging	Het
Ankrd11	A	G	8: 123,626,922 (GRCm39)	S87P	probably benign	Het
Ano7	T	A	1: 93,323,036 (GRCm39)	S459T	possibly damaging	Het
Asxl3	G	A	18: 22,656,369 (GRCm39)	V1460M	probably benign	Het
Atg16l1	A	C	1: 87,694,764 (GRCm39)	N147T	possibly damaging	Het
Atp10a	T	C	7: 58,463,512 (GRCm39)	V1015A	probably damaging	Het
Atxn7	T	A	14: 14,100,401 (GRCm38)	S696T	probably benign	Het
Babam1	C	T	8: 71,852,446 (GRCm39)	T184I	probably benign	Het
Blk	A	G	14: 63,618,711 (GRCm39)	S175P	possibly damaging	Het
Col5a1	T	A	2: 27,914,754 (GRCm39)	F123L	probably damaging	Het
Csmd3	T	C	15: 48,024,480 (GRCm39)	Y496C	probably damaging	Het
Dnah3	A	T	7: 119,615,700 (GRCm39)	Y1676*	probably null	Het
Fdxacb1	T	A	9: 50,683,243 (GRCm39)	M402K	probably benign	Het
Frmd5	A	G	2: 121,393,405 (GRCm39)	V141A	possibly damaging	Het
Gapvd1	G	A	2: 34,594,504 (GRCm39)	R685*	probably null	Het
Grik2	A	G	10: 49,116,826 (GRCm39)	L645P	probably damaging	Het
H2aj	T	A	6: 136,785,681 (GRCm39)	V115E	possibly damaging	Het
Hrh3	T	C	2: 179,743,061 (GRCm39)	Y189C	probably damaging	Het
Kcnc2	A	G	10: 112,108,133 (GRCm39)	T175A	probably benign	Het
Kcnv2	A	G	19: 27,300,332 (GRCm39)	Y61C	probably damaging	Het
Kif24	T	C	4: 41,394,939 (GRCm39)	R645G	probably damaging	Het
Knl1	A	G	2: 118,899,438 (GRCm39)	I380V	possibly damaging	Het
Lamb2	A	G	9: 108,364,700 (GRCm39)	I1151M	possibly damaging	Het
Leo1	A	G	9: 75,353,159 (GRCm39)	D234G	probably benign	Het
Lrp1b	T	G	2: 41,388,405 (GRCm39)	N407H	probably benign	Het
Matn2	T	C	15: 34,428,831 (GRCm39)	S732P	probably damaging	Het
Mrps30	A	T	13: 118,523,431 (GRCm39)	F114I	possibly damaging	Het
Or1l8	T	C	2: 36,817,713 (GRCm39)	N138D	probably benign	Het
Or4f17-ps1	G	A	2: 111,357,793 (GRCm39)	V45I	probably damaging	Het
Or5b123	T	C	19: 13,597,066 (GRCm39)	I180T	probably benign	Het
Oxr1	T	C	15: 41,676,980 (GRCm39)	V179A	probably benign	Het
Plaur	A	T	7: 24,166,141 (GRCm39)	S71C	possibly damaging	Het
Plbd2	T	C	5: 120,624,786 (GRCm39)	N461D	possibly damaging	Het
Plcb2	T	A	2: 118,549,396 (GRCm39)	Y322F	probably damaging	Het
Prkab2	T	C	3: 97,569,671 (GRCm39)	V79A	probably damaging	Het
Ptpn3	A	T	4: 57,197,568 (GRCm39)	C774S	probably damaging	Het
Ring1	A	C	17: 34,242,016 (GRCm39)	L131R	probably benign	Het
Rxfp2	G	A	5: 149,975,097 (GRCm39)		probably null	Het
Selenbp1	A	T	3: 94,845,269 (GRCm39)	I122F	probably benign	Het
Slc1a7	G	A	4: 107,864,758 (GRCm39)	V266I	probably damaging	Het
Slc2a10	A	G	2: 165,359,578 (GRCm39)	T481A	probably benign	Het
Spmap2l	T	C	5: 77,185,200 (GRCm39)		probably null	Het
Tapbp	A	G	17: 34,144,596 (GRCm39)	M231V	probably benign	Het
Tbxas1	A	T	6: 38,999,981 (GRCm39)	N256I	probably benign	Het
Uimc1	A	G	13: 55,240,998 (GRCm39)	I30T	probably damaging	Het
Usp48	C	A	4: 137,377,669 (GRCm39)	N231K	probably benign	Het
Zfhx3	T	G	8: 109,674,482 (GRCm39)	V1844G	possibly damaging	Het
Znrf3	A	T	11: 5,233,422 (GRCm39)	C212S	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
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
R9070:Septin7	UTSW	9	25,175,507 (GRCm39)	splice site	probably benign
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'- ATCCACTTGTGAACCTAAAACAGTG -3'
(R):5'- ATGAGATGTATGATGCAATATGGTG -3'

Sequencing Primer
(F):5'- CCTAAAACAGTGAAATAACAGTTGTC -3'
(R):5'- TGTATGATGCAATATGGTGTTTTAGG -3'

Posted On

2016-04-15