Mutagenetix > Incidental Mutation

Incidental Mutation 'R5605:Septin1'

439248

Institutional Source

Beutler Lab

Gene Symbol

Septin1

Ensembl Gene

ENSMUSG00000000486

Gene Name

septin 1

Synonyms

Sept1, Diff6, PNUTL3

MMRRC Submission

043270-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R5605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126813619-126832302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126814598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 260 (D260N)

Ref Sequence

ENSEMBL: ENSMUSP00000101921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032910] [ENSMUST00000106313] [ENSMUST00000106314] [ENSMUST00000127710] [ENSMUST00000133913] [ENSMUST00000152267] [ENSMUST00000206772] [ENSMUST00000206204] [ENSMUST00000142356]

AlphaFold

P42209

Predicted Effect

probably benign
Transcript: ENSMUST00000032910

SMART Domains

Protein: ENSMUSP00000032910
Gene: ENSMUSG00000030672

Domain	Start	End	E-Value	Type
EFh	29	57	9.77e-5	SMART
EFh	99	127	4.45e1	SMART
Blast:EFh	135	163	2e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000106313
AA Change: D232N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486
AA Change: D232N

Domain	Start	End	E-Value	Type
Pfam:DUF258	1	74	4.2e-8	PFAM
Pfam:MMR_HSR1	1	200	5.7e-8	PFAM
Pfam:Septin	1	274	5.7e-120	PFAM
coiled coil region	297	336	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106314
AA Change: D260N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486
AA Change: D260N

Domain	Start	End	E-Value	Type
Pfam:Septin	22	302	3.9e-124	PFAM
Pfam:MMR_HSR1	27	171	6.2e-9	PFAM
low complexity region	349	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127710

SMART Domains

Protein: ENSMUSP00000120915
Gene: ENSMUSG00000030672

Domain	Start	End	E-Value	Type
Pfam:EF-hand_8	7	34	9.7e-3	PFAM
Pfam:EF-hand_1	9	37	1.6e-6	PFAM
Pfam:EF-hand_6	9	38	1.6e-6	PFAM
Pfam:EF-hand_8	21	54	5.1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133733

Predicted Effect

probably benign
Transcript: ENSMUST00000133913

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152267
AA Change: D226N

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138541

Predicted Effect

probably benign
Transcript: ENSMUST00000206772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143222

Predicted Effect

probably benign
Transcript: ENSMUST00000206204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139613

Predicted Effect

probably benign
Transcript: ENSMUST00000142356

SMART Domains

Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486

Domain	Start	End	E-Value	Type
Pfam:DUF258	1	74	1.4e-8	PFAM
Pfam:MMR_HSR1	1	172	1.4e-8	PFAM
Pfam:Septin	1	186	3.1e-80	PFAM

Meta Mutation Damage Score

0.4042

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,575,425 (GRCm39)	G83*	probably null	Het
Arap2	A	T	5: 62,772,410 (GRCm39)	M1476K	possibly damaging	Het
Catsper2	G	A	2: 121,227,533 (GRCm39)	R546C	possibly damaging	Het
Ceacam5	T	C	7: 17,481,161 (GRCm39)	F303L	probably benign	Het
Clvs1	A	G	4: 9,281,751 (GRCm39)	D65G	probably damaging	Het
Coq5	T	C	5: 115,421,776 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,168,699 (GRCm39)	V950E	probably damaging	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dnah7c	A	G	1: 46,837,395 (GRCm39)	D3936G	possibly damaging	Het
Doc2b	T	C	11: 75,662,786 (GRCm39)	E404G	probably damaging	Het
Dsg1b	C	T	18: 20,532,596 (GRCm39)	P547S	probably benign	Het
Eif1ad17	T	A	12: 87,978,768 (GRCm39)	C51S	probably damaging	Het
Erich6	A	G	3: 58,532,540 (GRCm39)	Y356H	probably damaging	Het
Galnt6	C	T	15: 100,595,106 (GRCm39)	R465Q	probably damaging	Het
Gbp5	T	C	3: 142,207,037 (GRCm39)	S69P	probably damaging	Het
Gdpd4	T	C	7: 97,655,507 (GRCm39)	V562A	probably benign	Het
Greb1	A	T	12: 16,758,727 (GRCm39)	V663D	probably damaging	Het
Gtf3c3	A	T	1: 54,455,085 (GRCm39)	S593T	probably benign	Het
H2-Eb1	T	C	17: 34,528,807 (GRCm39)	S113P	probably benign	Het
Herc3	C	T	6: 58,834,712 (GRCm39)	R240C	probably damaging	Het
Iqub	T	C	6: 24,505,620 (GRCm39)	D96G	probably benign	Het
Irag1	C	T	7: 110,545,209 (GRCm39)	C29Y	possibly damaging	Het
Kcnt2	A	T	1: 140,502,481 (GRCm39)	E858D	possibly damaging	Het
Lcor	T	A	19: 41,571,302 (GRCm39)	I165N	probably damaging	Het
Lrp2	C	T	2: 69,353,643 (GRCm39)	R539K	probably damaging	Het
Lrrc10	C	A	10: 116,881,805 (GRCm39)	P160T	probably damaging	Het
Map3k12	G	T	15: 102,412,300 (GRCm39)	D280E	probably benign	Het
Mcub	T	C	3: 129,710,658 (GRCm39)	E258G	probably damaging	Het
Mdn1	T	C	4: 32,765,664 (GRCm39)	S5208P	probably benign	Het
Med20	C	A	17: 47,934,069 (GRCm39)		probably benign	Het
Mertk	T	C	2: 128,580,227 (GRCm39)	V227A	probably benign	Het
Ncstn	A	G	1: 171,908,717 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,307,315 (GRCm39)		probably null	Het
Nfyc	A	G	4: 120,647,686 (GRCm39)		probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nt5dc1	C	T	10: 34,279,691 (GRCm39)	C117Y	probably benign	Het
Nup88	A	T	11: 70,834,896 (GRCm39)		probably benign	Het
Or6z7	C	T	7: 6,483,325 (GRCm39)	V277M	probably benign	Het
Pbrm1	T	A	14: 30,757,949 (GRCm39)	I193K	probably benign	Het
Pcsk2	T	C	2: 143,591,165 (GRCm39)		probably benign	Het
Pdzd2	A	T	15: 12,592,436 (GRCm39)	C69*	probably null	Het
Polr1e	A	G	4: 45,018,723 (GRCm39)	T18A	probably benign	Het
Prima1	T	A	12: 103,166,163 (GRCm39)	I124F	probably benign	Het
Rbm34	T	C	8: 127,676,169 (GRCm39)	K382R	probably benign	Het
Rftn1	T	G	17: 50,354,435 (GRCm39)	N309T	probably damaging	Het
Serpina3g	T	C	12: 104,207,299 (GRCm39)	V154A	probably damaging	Het
Spef2	A	T	15: 9,609,606 (GRCm39)	N1306K	probably damaging	Het
Stk4	T	C	2: 163,921,486 (GRCm39)	F29S	probably damaging	Het
Stxbp5	A	G	10: 9,645,490 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,919,733 (GRCm39)	T774A	probably benign	Het
Tinag	A	G	9: 76,952,694 (GRCm39)	Y97H	probably damaging	Het
Tpm1	T	C	9: 66,956,317 (GRCm39)	E33G	probably damaging	Het
Usp17lb	T	C	7: 104,489,847 (GRCm39)	E359G	probably benign	Het
Vmn2r91	A	G	17: 18,356,763 (GRCm39)	E810G	probably damaging	Het
Vwce	A	T	19: 10,635,402 (GRCm39)	T633S	possibly damaging	Het
Ylpm1	G	A	12: 85,075,627 (GRCm39)	R326H	probably damaging	Het

Other mutations in Septin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0675:Septin1	UTSW	7	126,816,171 (GRCm39)	missense	probably damaging	0.99
R1375:Septin1	UTSW	7	126,817,333 (GRCm39)	missense	probably damaging	1.00
R1627:Septin1	UTSW	7	126,817,230 (GRCm39)	critical splice acceptor site	probably null
R1886:Septin1	UTSW	7	126,813,937 (GRCm39)	unclassified	probably benign
R2409:Septin1	UTSW	7	126,815,143 (GRCm39)	critical splice acceptor site	probably null
R3872:Septin1	UTSW	7	126,814,447 (GRCm39)	unclassified	probably benign
R4320:Septin1	UTSW	7	126,816,200 (GRCm39)	missense	probably damaging	1.00
R4321:Septin1	UTSW	7	126,816,200 (GRCm39)	missense	probably damaging	1.00
R4323:Septin1	UTSW	7	126,816,200 (GRCm39)	missense	probably damaging	1.00
R4864:Septin1	UTSW	7	126,816,064 (GRCm39)	unclassified	probably benign
R6838:Septin1	UTSW	7	126,815,894 (GRCm39)	missense	probably benign	0.01
R6870:Septin1	UTSW	7	126,816,876 (GRCm39)	missense	probably benign	0.25
R7030:Septin1	UTSW	7	126,816,157 (GRCm39)	missense	probably benign	0.12
R7494:Septin1	UTSW	7	126,814,122 (GRCm39)	missense	probably damaging	0.98
R7797:Septin1	UTSW	7	126,813,937 (GRCm39)	missense	unknown
R8002:Septin1	UTSW	7	126,815,074 (GRCm39)	missense	probably damaging	1.00
R9190:Septin1	UTSW	7	126,816,092 (GRCm39)	missense	probably benign	0.11
X0021:Septin1	UTSW	7	126,814,525 (GRCm39)	missense	possibly damaging	0.94
Z1177:Septin1	UTSW	7	126,816,074 (GRCm39)	missense	possibly damaging	0.84
Z1177:Septin1	UTSW	7	126,815,135 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCAGGAAGGCTTGCCCAAAC -3'
(R):5'- GTTCGGTCTGAATTCATACGTGAAG -3'

Sequencing Primer
(F):5'- GGCGCCATGGAAGCACC -3'
(R):5'- CTGAATTCATACGTGAAGTTGGAG -3'

Posted On

2016-10-26