Mutagenetix > Incidental Mutation

Incidental Mutation 'R6870:Septin1'

536139

Institutional Source

Beutler Lab

Gene Symbol

Septin1

Ensembl Gene

ENSMUSG00000000486

Gene Name

septin 1

Synonyms

Sept1, Diff6, PNUTL3

MMRRC Submission

044967-MU

Accession Numbers

Essential gene?

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

Stock #

R6870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126813619-126832302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126816876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 46 (V46M)

Ref Sequence

ENSEMBL: ENSMUSP00000114468 (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: V46M

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486
AA Change: V46M

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: V74M

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486
AA Change: V74M

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: V46M

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000142356
AA Change: V46M

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486
AA Change: V46M

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: V74M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206204

Predicted Effect

probably benign
Transcript: ENSMUST00000206772

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,020,608 (GRCm39)	Y62C	probably benign	Het
A1bg	T	C	15: 60,791,564 (GRCm39)	T291A	probably damaging	Het
Abcb11	A	G	2: 69,115,642 (GRCm39)	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,929,000 (GRCm39)	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,522,478 (GRCm39)	L516*	probably null	Het
Arhgap21	A	G	2: 20,885,321 (GRCm39)	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,347,261 (GRCm39)	V65A	probably benign	Het
Calm3	T	A	7: 16,653,568 (GRCm39)	Q9L	probably benign	Het
Cd300c2	C	T	11: 114,891,503 (GRCm39)	D124N	probably damaging	Het
Celsr3	A	G	9: 108,706,390 (GRCm39)	T958A	probably benign	Het
Cemip2	T	C	19: 21,809,487 (GRCm39)	S956P	possibly damaging	Het
Cfap69	T	C	5: 5,671,958 (GRCm39)	T317A	probably benign	Het
Cluh	T	A	11: 74,556,210 (GRCm39)	I887K	probably damaging	Het
Dag1	A	T	9: 108,086,457 (GRCm39)	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,924,248 (GRCm39)		probably null	Het
Dnah1	T	A	14: 30,993,018 (GRCm39)	K2959*	probably null	Het
Dnttip2	T	A	3: 122,069,457 (GRCm39)	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,479 (GRCm39)	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,030,993 (GRCm39)	H84L	unknown	Het
Elac2	A	T	11: 64,890,589 (GRCm39)	S698C	probably null	Het
Elf2	A	T	3: 51,201,586 (GRCm39)	*88R	probably null	Het
Fastkd1	T	A	2: 69,538,958 (GRCm39)	I143L	probably benign	Het
Fbxw10	C	T	11: 62,746,193 (GRCm39)	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,388,329 (GRCm39)	M57V	probably benign	Het
Gbp4	T	C	5: 105,273,444 (GRCm39)	S129G	probably damaging	Het
Gnat2	A	C	3: 108,002,947 (GRCm39)		probably benign	Het
Golgb1	C	A	16: 36,738,565 (GRCm39)	F2301L	probably damaging	Het
Il18bp	T	C	7: 101,666,518 (GRCm39)	T2A	possibly damaging	Het
Kpna2	T	C	11: 106,883,520 (GRCm39)		probably null	Het
Lrrfip2	A	T	9: 111,045,187 (GRCm39)		probably benign	Het
Map4k1	T	G	7: 28,701,096 (GRCm39)		probably null	Het
Mcm3ap	T	C	10: 76,306,049 (GRCm39)	V54A	probably benign	Het
Nup133	A	G	8: 124,626,246 (GRCm39)	I1112T	probably benign	Het
Or8b1	A	C	9: 38,399,382 (GRCm39)	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,225,140 (GRCm39)	V651D	probably damaging	Het
Pde10a	A	G	17: 9,186,356 (GRCm39)	T571A	possibly damaging	Het
Phc3	A	G	3: 30,990,910 (GRCm39)	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,788,516 (GRCm39)	E113G	probably damaging	Het
Psmd2	T	G	16: 20,480,593 (GRCm39)	M744R	probably benign	Het
Qrich2	T	C	11: 116,346,156 (GRCm39)	D1556G	probably damaging	Het
Shank2	C	A	7: 143,606,197 (GRCm39)	Q127K	probably damaging	Het
Siah1a	A	G	8: 87,451,653 (GRCm39)	V277A	possibly damaging	Het
Slc4a7	T	A	14: 14,733,846 (GRCm38)	D85E	probably damaging	Het
Slc5a12	A	T	2: 110,472,155 (GRCm39)	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231 (GRCm39)	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,842,919 (GRCm39)	S17C	probably damaging	Het
Tssk6	G	A	8: 70,355,673 (GRCm39)	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,709,042 (GRCm39)	D80G	probably benign	Het
Tyk2	A	G	9: 21,036,250 (GRCm39)	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,769,014 (GRCm39)	S503P	probably benign	Het
Upf1	A	T	8: 70,794,211 (GRCm39)	C232S	probably benign	Het
Zeb2	G	A	2: 44,878,922 (GRCm39)	T1080I	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
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'- GGGCTAGATTGTTACCAGAAACAG -3'
(R):5'- CCTGTGTTATCAGGCTGCATTC -3'

Sequencing Primer
(F):5'- AGAAACAGGTGCCCCCTTTTG -3'
(R):5'- GTGTTATCAGGCTGCATTCTTTTTC -3'

Posted On

2018-10-18