Mutagenetix > Incidental Mutation

Incidental Mutation 'R9190:Septin1'

697681

Institutional Source

Beutler Lab

Gene Symbol

Septin1

Ensembl Gene

ENSMUSG00000000486

Gene Name

septin 1

Synonyms

Sept1, Diff6, PNUTL3

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R9190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126813619-126832302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126816092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 141 (I141V)

Ref Sequence

ENSEMBL: ENSMUSP00000101921 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000106313
AA Change: I113V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486
AA Change: I113V

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 benign
Transcript: ENSMUST00000106314
AA Change: I141V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486
AA Change: I141V

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

probably benign
Transcript: ENSMUST00000133913
AA Change: I113V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000142356
AA Change: I113V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486
AA Change: I113V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152267
AA Change: I141V

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000206204

Predicted Effect

probably benign
Transcript: ENSMUST00000206772

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,642,880 (GRCm39)	T183I	possibly damaging	Het
Abca13	T	A	11: 9,241,886 (GRCm39)	S1250T	probably damaging	Het
Adamts12	T	A	15: 11,336,446 (GRCm39)	S1510R	probably benign	Het
Adcy5	T	A	16: 35,089,364 (GRCm39)	C520*	probably null	Het
Arhgap21	A	T	2: 20,858,983 (GRCm39)	M1237K	probably null	Het
Atp8b4	T	A	2: 126,225,607 (GRCm39)	N541I	probably damaging	Het
Bbs12	G	T	3: 37,375,223 (GRCm39)	R557L	probably damaging	Het
Bcl7c	T	C	7: 127,266,200 (GRCm39)	T183A	probably benign	Het
Brd7	A	G	8: 89,081,274 (GRCm39)	S192P	probably damaging	Het
Calhm3	G	A	19: 47,146,121 (GRCm39)	A28V	probably benign	Het
Ccdc113	A	G	8: 96,263,101 (GRCm39)	N37S	probably damaging	Het
Cdh5	T	G	8: 104,867,337 (GRCm39)	V538G	probably damaging	Het
Cfap43	T	C	19: 47,726,293 (GRCm39)	E1639G	possibly damaging	Het
Clca3a2	C	T	3: 144,796,599 (GRCm39)	V203I	probably benign	Het
Clstn2	A	G	9: 97,414,815 (GRCm39)	F360L	probably damaging	Het
Cnst	GTGACACGCTTG	GTG	1: 179,407,039 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,260,058 (GRCm39)	Y234H	probably damaging	Het
Ddhd2	T	C	8: 26,244,495 (GRCm39)	S44G	probably benign	Het
Dync2i2	G	T	2: 29,922,211 (GRCm39)	H417N	probably benign	Het
Farp1	A	G	14: 121,492,988 (GRCm39)	E530G	probably damaging	Het
Fhad1	C	T	4: 141,646,058 (GRCm39)		probably null	Het
Foxj3	T	A	4: 119,477,538 (GRCm39)	C449*	probably null	Het
Fsbp	G	C	4: 11,584,005 (GRCm39)	V235L	probably benign	Het
Fuom	T	C	7: 139,681,252 (GRCm39)	E73G	probably benign	Het
Gm5134	A	G	10: 75,844,645 (GRCm39)	H667R	probably damaging	Het
Igsf21	A	G	4: 139,756,028 (GRCm39)	I361T	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kmt2d	A	T	15: 98,749,896 (GRCm39)	V2599E	unknown	Het
Lama1	T	A	17: 68,111,514 (GRCm39)	M2255K		Het
Litafd	C	A	16: 8,501,647 (GRCm39)	P50T		Het
Lrrc32	A	G	7: 98,148,234 (GRCm39)	H338R	probably benign	Het
Map1b	C	A	13: 99,571,914 (GRCm39)	R269L	probably damaging	Het
Ms4a5	T	A	19: 11,256,733 (GRCm39)	I55F	probably damaging	Het
Muc5b	G	C	7: 141,411,939 (GRCm39)	L1628F	unknown	Het
Myo6	A	G	9: 80,195,384 (GRCm39)	Q918R	unknown	Het
Or1e25	T	A	11: 73,493,877 (GRCm39)	M157K	probably benign	Het
Or2t48	A	G	11: 58,420,161 (GRCm39)	V217A	possibly damaging	Het
Or5m11b	T	A	2: 85,805,884 (GRCm39)	I99N	possibly damaging	Het
Or9i1b	T	G	19: 13,896,967 (GRCm39)	N194K	probably benign	Het
Pals2	A	G	6: 50,157,219 (GRCm39)	R296G	probably damaging	Het
Plin5	A	G	17: 56,419,462 (GRCm39)	V320A	probably damaging	Het
Ptx4	A	T	17: 25,342,257 (GRCm39)	Q244L	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,495 (GRCm39)	T535A	probably benign	Het
Ranbp2	T	C	10: 58,313,117 (GRCm39)	F1279S	probably damaging	Het
Rgl1	T	C	1: 152,428,362 (GRCm39)	H254R	probably damaging	Het
Rida	C	T	15: 34,487,909 (GRCm39)	A69T	probably damaging	Het
Scn2a	T	C	2: 65,511,346 (GRCm39)	F131L	probably benign	Het
Slc10a6	A	G	5: 103,765,571 (GRCm39)	S171P	probably damaging	Het
Slc18a1	A	G	8: 69,519,790 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,388,526 (GRCm39)	S247P	possibly damaging	Het
Tet2	A	T	3: 133,187,147 (GRCm39)	I1094K	possibly damaging	Het
Tmem234	C	T	4: 129,501,333 (GRCm39)	S138L	probably benign	Het
Trpv1	T	A	11: 73,145,148 (GRCm39)		probably null	Het
Vmn2r60	T	A	7: 41,844,935 (GRCm39)	M766K	probably damaging	Het
Vmn2r84	T	C	10: 130,226,843 (GRCm39)	N332D	probably benign	Het
Zfp292	A	T	4: 34,819,563 (GRCm39)	I258N	probably damaging	Het
Zxdc	A	G	6: 90,375,773 (GRCm39)	K750E	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
R5605:Septin1	UTSW	7	126,814,598 (GRCm39)	missense	probably damaging	1.00
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
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'- GCGTCTGCTTTACCGATGAC -3'
(R):5'- AGAAATGACTTGGGACTGCAC -3'

Sequencing Primer
(F):5'- ACCGGGATGATATTGACTTTCTC -3'
(R):5'- ACTGCACAGTCCTGGTTAGC -3'

Posted On

2022-02-07