Mutagenetix > Incidental Mutation

Incidental Mutation 'R1590:Septin7'

177809

Institutional Source

Beutler Lab

Gene Symbol

Septin7

Ensembl Gene

ENSMUSG00000001833

Gene Name

septin 7

Synonyms

Cdc10, Sept7

MMRRC Submission

039627-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25163735-25219867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25188900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 77 (S77F)

Ref Sequence

ENSEMBL: ENSMUSP00000110927 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000115272
AA Change: S77F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833
AA Change: S77F

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 damaging
Transcript: ENSMUST00000165594
AA Change: S77F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127641
Gene: ENSMUSG00000001833
AA Change: S77F

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: ENSMUST00000213980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217598

Meta Mutation Damage Score

0.2081

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

97% (69/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,322,370 (GRCm39)	S95P	probably damaging	Het
Ankmy1	T	C	1: 92,816,397 (GRCm39)	Y239C	probably damaging	Het
Atp12a	T	C	14: 56,617,512 (GRCm39)	S601P	probably damaging	Het
Atp1b3	T	C	9: 96,225,402 (GRCm39)	T89A	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Brme1	A	T	8: 84,893,715 (GRCm39)	Q294L	probably benign	Het
Btnl2	A	T	17: 34,580,114 (GRCm39)	I216F	possibly damaging	Het
Cabs1	A	T	5: 88,127,490 (GRCm39)	H47L	probably damaging	Het
Ccdc68	T	A	18: 70,073,251 (GRCm39)	D66E	probably benign	Het
Cdc42ep4	T	C	11: 113,619,392 (GRCm39)	D333G	possibly damaging	Het
Ckmt1	G	A	2: 121,194,003 (GRCm39)	D389N	possibly damaging	Het
Dact1	G	T	12: 71,364,349 (GRCm39)	V340F	probably benign	Het
Dnah2	T	C	11: 69,412,024 (GRCm39)	T246A	probably benign	Het
Dnah2	A	G	11: 69,313,580 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Efcab14	A	G	4: 115,613,746 (GRCm39)		probably benign	Het
Eprs1	A	G	1: 185,133,707 (GRCm39)	T795A	probably damaging	Het
Esp36	T	A	17: 38,728,202 (GRCm39)	E26D	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,678 (GRCm39)	T271A	probably benign	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gimap7	G	A	6: 48,700,953 (GRCm39)	V180M	probably damaging	Het
Gtf3c1	T	C	7: 125,275,833 (GRCm39)	H531R	possibly damaging	Het
Herc1	T	A	9: 66,399,235 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,140,203 (GRCm39)	Y1061C	probably benign	Het
Ipo11	T	C	13: 107,023,225 (GRCm39)	Y420C	probably damaging	Het
Ipo8	T	C	6: 148,712,163 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,606,072 (GRCm39)	M243K	probably damaging	Het
Lrp2	A	G	2: 69,297,107 (GRCm39)		probably null	Het
Mag	T	C	7: 30,601,277 (GRCm39)	E439G	probably damaging	Het
Mcm3ap	T	A	10: 76,332,375 (GRCm39)	F1231I	probably benign	Het
Mcmdc2	C	T	1: 9,986,780 (GRCm39)	Q204*	probably null	Het
Mpl	A	C	4: 118,301,221 (GRCm39)	L548R	probably damaging	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Myo18b	G	A	5: 113,023,132 (GRCm39)	Q87*	probably null	Het
Nfat5	A	G	8: 108,020,522 (GRCm39)	Y22C	probably damaging	Het
Nnt	T	A	13: 119,523,197 (GRCm39)	I232L	possibly damaging	Het
Or2a52	A	G	6: 43,144,846 (GRCm39)	N285D	probably damaging	Het
Or8g17	T	C	9: 38,930,253 (GRCm39)	N195D	probably benign	Het
Or9s13	G	A	1: 92,548,467 (GRCm39)	V280M	possibly damaging	Het
Parp2	C	T	14: 51,048,001 (GRCm39)	P76S	probably benign	Het
Pick1	C	T	15: 79,129,501 (GRCm39)	H169Y	probably benign	Het
Prtg	T	A	9: 72,750,089 (GRCm39)	F164L	probably benign	Het
Pygb	A	G	2: 150,659,583 (GRCm39)	D422G	possibly damaging	Het
Samd9l	C	A	6: 3,375,761 (GRCm39)	C500F	probably benign	Het
Sbno1	A	C	5: 124,522,567 (GRCm39)	N1083K	possibly damaging	Het
Slc25a44	A	G	3: 88,323,314 (GRCm39)	V264A	possibly damaging	Het
Slco1a8	C	T	6: 141,926,598 (GRCm39)	S576N	probably benign	Het
Slf2	G	T	19: 44,930,512 (GRCm39)	E530*	probably null	Het
Svs5	A	G	2: 164,079,578 (GRCm39)	S110P	possibly damaging	Het
Tmbim7	G	T	5: 3,715,338 (GRCm39)		probably null	Het
Tpgs2	T	C	18: 25,273,630 (GRCm39)	D177G	probably damaging	Het
Uba1y	T	A	Y: 826,893 (GRCm39)	F516L	probably damaging	Het
Ulk1	A	G	5: 110,943,632 (GRCm39)	V211A	probably damaging	Het
Vmn1r237	T	A	17: 21,534,301 (GRCm39)	I8N	probably damaging	Het
Vmn2r103	G	T	17: 20,014,496 (GRCm39)	M429I	probably benign	Het
Vmn2r112	T	C	17: 22,833,989 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,227,349 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	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
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
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'- GGCTGGACCATCTCTTTAGTCCCAA -3'
(R):5'- AAAATGGACAACACAACTCCAGGGTTAT -3'

Sequencing Primer
(F):5'- AGTCCCAATATGAAATCTTTGTAGTG -3'
(R):5'- TGGCAGTCAAAATAATTCCTCTAATC -3'

Posted On

2014-04-24