Mutagenetix > Incidental Mutation

Incidental Mutation 'R9138:Septin7'

694156

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 #

R9138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25163735-25219867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25212761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 309 (Y309C)

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: Y309C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833
AA Change: Y309C

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: Y309C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127641
Gene: ENSMUSG00000001833
AA Change: Y309C

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adgre5	A	T	8: 84,452,563 (GRCm39)	N502K	probably benign	Het
Ago4	T	A	4: 126,414,073 (GRCm39)	K73*	probably null	Het
Angpt2	T	C	8: 18,764,162 (GRCm39)	I127V	probably benign	Het
Ankhd1	TGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGC	18: 36,693,961 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,722,626 (GRCm39)	I368N	probably damaging	Het
Arhgap5	A	G	12: 52,609,146 (GRCm39)	I1374V	probably benign	Het
B3galt9	T	C	2: 34,728,920 (GRCm39)	Y240H	probably damaging	Het
Bltp3b	T	A	10: 89,615,738 (GRCm39)	V127D	probably damaging	Het
Caln1	T	C	5: 130,698,449 (GRCm39)	L157P	probably damaging	Het
Cdh9	G	T	15: 16,823,273 (GRCm39)	G85V	probably damaging	Het
Chrna4	A	G	2: 180,670,775 (GRCm39)	V327A	probably damaging	Het
Col11a2	T	C	17: 34,279,847 (GRCm39)	S1156P		Het
Cps1	G	A	1: 67,254,569 (GRCm39)	V1253M	probably damaging	Het
Crb1	T	C	1: 139,162,468 (GRCm39)	E1291G		Het
Dab1	A	T	4: 104,588,929 (GRCm39)	K518*	probably null	Het
Ddias	A	T	7: 92,507,608 (GRCm39)	I769N	possibly damaging	Het
Dlg5	G	T	14: 24,295,376 (GRCm39)	A48E	probably damaging	Het
Dok1	G	T	6: 83,009,806 (GRCm39)	A101E	probably damaging	Het
Dpf2	T	C	19: 5,948,593 (GRCm39)	N389S	probably benign	Het
Evi5l	T	A	8: 4,233,582 (GRCm39)	S22T	probably benign	Het
Garin5b	A	G	7: 4,773,406 (GRCm39)	F137S		Het
Gm5431	T	A	11: 48,780,498 (GRCm39)	R141S	probably benign	Het
Gmds	A	T	13: 32,311,035 (GRCm39)	Y197*	probably null	Het
Gprc5a	T	A	6: 135,056,164 (GRCm39)	S204T	probably damaging	Het
H2bc1	T	C	13: 24,118,112 (GRCm39)	T10A	probably benign	Het
Hoxd12	T	A	2: 74,505,902 (GRCm39)	S158T	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kif16b	C	A	2: 142,542,476 (GRCm39)	E273D		Het
Lct	T	C	1: 128,227,894 (GRCm39)	I1200V	probably benign	Het
Lrrfip1	T	A	1: 91,038,080 (GRCm39)	L398I	probably damaging	Het
Mcm4	T	C	16: 15,447,200 (GRCm39)	E588G	probably damaging	Het
Mdga2	C	T	12: 66,615,663 (GRCm39)	G648D	possibly damaging	Het
Mfrp	A	G	9: 44,017,673 (GRCm39)	Q555R	possibly damaging	Het
Mtf1	C	T	4: 124,732,510 (GRCm39)	Q523*	probably null	Het
Naf1	A	G	8: 67,317,198 (GRCm39)	D230G	possibly damaging	Het
Nbeal1	G	T	1: 60,286,904 (GRCm39)	E909*	probably null	Het
Nxt1	C	A	2: 148,517,572 (GRCm39)	N104K	probably benign	Het
Ocstamp	T	A	2: 165,237,864 (GRCm39)	T467S	probably benign	Het
Or1j19	A	G	2: 36,676,702 (GRCm39)	H55R	probably benign	Het
Or4n4b	T	C	14: 50,536,494 (GRCm39)	I91V	probably benign	Het
Or5b123	T	A	19: 13,596,658 (GRCm39)	M44K	probably damaging	Het
Pcdhgc5	A	C	18: 37,953,892 (GRCm39)	T389P	probably benign	Het
Peak1	A	T	9: 56,164,925 (GRCm39)	V1001E	probably benign	Het
Phf11d	C	A	14: 59,602,833 (GRCm39)	C9F	probably benign	Het
Pkd1l2	T	A	8: 117,781,748 (GRCm39)	T766S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,595 (GRCm39)	N57K		Het
Ptpro	T	A	6: 137,388,113 (GRCm39)		probably null	Het
Rasa1	T	C	13: 85,369,635 (GRCm39)	I896V	possibly damaging	Het
Rasa4	T	C	5: 136,131,455 (GRCm39)	L483P	possibly damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slco3a1	A	T	7: 74,009,664 (GRCm39)	I217N	probably damaging	Het
Son	C	T	16: 91,452,006 (GRCm39)	T251I	possibly damaging	Het
Spata31e2	C	T	1: 26,721,253 (GRCm39)	C1309Y	possibly damaging	Het
Spen	T	C	4: 141,196,797 (GRCm39)	D3566G	probably damaging	Het
Stag1	T	C	9: 100,829,335 (GRCm39)	V1089A	probably benign	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,718,958 (GRCm39)	E354G	probably damaging	Het
Timd6	A	T	11: 46,468,126 (GRCm39)	T67S	probably damaging	Het
Tmem63c	T	C	12: 87,128,601 (GRCm39)	F542S	probably damaging	Het
Trav12-2	T	C	14: 53,854,178 (GRCm39)	S51P	probably benign	Het
Upf2	T	A	2: 6,028,132 (GRCm39)	D739E	unknown	Het
Vmn1r193	A	T	13: 22,403,844 (GRCm39)	H49Q	probably damaging	Het
Vmn2r11	T	C	5: 109,201,904 (GRCm39)	D200G	probably damaging	Het
Vmn2r114	C	A	17: 23,510,578 (GRCm39)	C634F	probably damaging	Het
Zfp444	A	G	7: 6,192,690 (GRCm39)	H236R	probably damaging	Het
Zfp712	A	G	13: 67,189,318 (GRCm39)	L403P	probably damaging	Het
Zmpste24	T	G	4: 120,923,018 (GRCm39)	Y399S	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
R9070:Septin7	UTSW	9	25,175,507 (GRCm39)	splice site	probably benign
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'- TGCCAATAAAGACATGTGAATGCC -3'
(R):5'- ACTGAGCCATCTTGCCAGAC -3'

Sequencing Primer
(F):5'- AAAGACATGTGAATGCCATTTTTC -3'
(R):5'- GTAAGCTGCCCTTTGTTC -3'

Posted On

2022-01-20