Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Septin11'

277422

Institutional Source

Beutler Lab

Gene Symbol

Septin11

Ensembl Gene

ENSMUSG00000058013

Gene Name

septin 11

Synonyms

D5Ertd606e, 6230410I01Rik, Sept11

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93241296-93324306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93310026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 276 (M276I)

Ref Sequence

ENSEMBL: ENSMUSP00000143901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074733] [ENSMUST00000201421] [ENSMUST00000201700] [ENSMUST00000202196] [ENSMUST00000202217] [ENSMUST00000202308]

AlphaFold

Q8C1B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000074733
AA Change: M276I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: M276I

Domain	Start	End	E-Value	Type
Pfam:Septin	38	311	5.3e-101	PFAM
Pfam:MMR_HSR1	43	185	3.8e-8	PFAM
low complexity region	350	366	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
low complexity region	396	419	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201421
AA Change: M276I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: M276I

Domain	Start	End	E-Value	Type
Pfam:Septin	38	311	5.3e-101	PFAM
Pfam:MMR_HSR1	43	185	3.8e-8	PFAM
low complexity region	350	366	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
low complexity region	396	419	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201695

Predicted Effect

probably damaging
Transcript: ENSMUST00000201700
AA Change: M276I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: M276I

Domain	Start	End	E-Value	Type
Pfam:Septin	38	311	7.9e-99	PFAM
Pfam:MMR_HSR1	43	185	7e-7	PFAM
coiled coil region	333	409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202196

SMART Domains

Protein: ENSMUSP00000144573
Gene: ENSMUSG00000058013

Domain	Start	End	E-Value	Type
Pfam:Septin	1	204	5.9e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000202217
AA Change: M276I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: M276I

Domain	Start	End	E-Value	Type
Pfam:Septin	38	311	7.7e-101	PFAM
Pfam:MMR_HSR1	43	185	4.1e-8	PFAM
low complexity region	350	366	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
low complexity region	396	419	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202308
AA Change: M276I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: M276I

Domain	Start	End	E-Value	Type
Pfam:Septin	38	311	5.1e-101	PFAM
Pfam:MMR_HSR1	43	185	3.7e-8	PFAM
low complexity region	350	366	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
low complexity region	396	419	N/A	INTRINSIC

Meta Mutation Damage Score

0.6134

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,190 (GRCm39)		probably null	Het
Abcc12	C	T	8: 87,280,020 (GRCm39)	E338K	probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Ankrd16	G	A	2: 11,794,619 (GRCm39)	E335K	probably benign	Het
Atm	A	G	9: 53,414,375 (GRCm39)	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,331,077 (GRCm39)	R281H	probably damaging	Het
Blvra	C	T	2: 126,937,111 (GRCm39)	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,009,961 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cacng8	T	C	7: 3,442,990 (GRCm39)	S84P	probably damaging	Het
Cad	T	A	5: 31,218,994 (GRCm39)	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641 (GRCm39)	S11P	probably benign	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Corin	T	C	5: 72,579,508 (GRCm39)	E155G	probably benign	Het
Cul9	T	C	17: 46,836,061 (GRCm39)	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,776,718 (GRCm39)	E501G	probably damaging	Het
Dennd3	T	A	15: 73,414,581 (GRCm39)	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,540,815 (GRCm39)	I2520L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fgf14	A	C	14: 124,217,801 (GRCm39)	I234R	probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gad2	T	G	2: 22,575,000 (GRCm39)	D472E	probably benign	Het
Garnl3	G	T	2: 32,882,240 (GRCm39)	H832N	probably benign	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Gnptab	T	A	10: 88,269,439 (GRCm39)	L714*	probably null	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Guf1	A	G	5: 69,718,500 (GRCm39)	N213S	probably damaging	Het
H2-K2	T	G	17: 34,216,303 (GRCm39)	H281P	probably damaging	Het
Hhip	T	A	8: 80,724,124 (GRCm39)	M373L	probably benign	Het
Ifi203	C	T	1: 173,761,362 (GRCm39)	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,321,418 (GRCm39)	L88S	probably damaging	Het
Kcna3	T	C	3: 106,944,012 (GRCm39)	Y92H	possibly damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,050,703 (GRCm39)	D387G	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mknk2	C	T	10: 80,503,809 (GRCm39)	W367*	probably null	Het
Mocos	A	G	18: 24,809,719 (GRCm39)	K441E	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Neurod4	C	T	10: 130,106,351 (GRCm39)	V308I	probably benign	Het
Nxf3	C	T	X: 134,974,732 (GRCm39)	V474I	probably benign	Het
Or10d5j	A	T	9: 39,867,877 (GRCm39)	M118K	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pde5a	T	C	3: 122,596,809 (GRCm39)	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,374,557 (GRCm39)	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rnf103	C	G	6: 71,485,859 (GRCm39)	C163W	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Slc30a4	A	G	2: 122,544,192 (GRCm39)	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,302,887 (GRCm39)	V570A	probably damaging	Het
Spout1	T	C	2: 30,067,419 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thsd1	A	G	8: 22,749,427 (GRCm39)	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,073,023 (GRCm39)	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Wnk1	C	T	6: 119,946,315 (GRCm39)	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp335	C	A	2: 164,742,026 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,158,956 (GRCm39)		probably benign	Het

Other mutations in Septin11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Septin11	APN	5	93,304,877 (GRCm39)	splice site	probably null
IGL00984:Septin11	APN	5	93,310,043 (GRCm39)	missense	possibly damaging	0.90
IGL01452:Septin11	APN	5	93,309,063 (GRCm39)	missense	possibly damaging	0.82
IGL01677:Septin11	APN	5	93,296,392 (GRCm39)	missense	probably damaging	0.98
IGL01732:Septin11	APN	5	93,309,085 (GRCm39)	missense	probably damaging	1.00
IGL02476:Septin11	APN	5	93,296,443 (GRCm39)	critical splice donor site	probably null
I0000:Septin11	UTSW	5	93,313,118 (GRCm39)	missense	probably benign	0.05
R0544:Septin11	UTSW	5	93,313,227 (GRCm39)	missense	possibly damaging	0.80
R0611:Septin11	UTSW	5	93,315,393 (GRCm39)	missense	probably damaging	0.99
R1438:Septin11	UTSW	5	93,296,287 (GRCm39)	missense	probably damaging	1.00
R1702:Septin11	UTSW	5	93,304,783 (GRCm39)	missense	probably damaging	1.00
R1727:Septin11	UTSW	5	93,304,783 (GRCm39)	missense	probably damaging	1.00
R3838:Septin11	UTSW	5	93,296,258 (GRCm39)	missense	probably damaging	1.00
R4609:Septin11	UTSW	5	93,310,113 (GRCm39)	missense	possibly damaging	0.89
R4717:Septin11	UTSW	5	93,304,815 (GRCm39)	missense	possibly damaging	0.89
R4852:Septin11	UTSW	5	93,310,112 (GRCm39)	missense	possibly damaging	0.52
R4986:Septin11	UTSW	5	93,309,100 (GRCm39)	missense	probably damaging	1.00
R5806:Septin11	UTSW	5	93,315,437 (GRCm39)	missense	probably benign	0.18
R5826:Septin11	UTSW	5	93,287,309 (GRCm39)	missense	possibly damaging	0.79
R5896:Septin11	UTSW	5	93,304,824 (GRCm39)	missense	probably damaging	1.00
R6641:Septin11	UTSW	5	93,287,411 (GRCm39)	missense	probably damaging	1.00
R7144:Septin11	UTSW	5	93,304,725 (GRCm39)	missense	probably benign	0.00
R7479:Septin11	UTSW	5	93,304,804 (GRCm39)	missense	probably damaging	0.99
R7757:Septin11	UTSW	5	93,319,323 (GRCm39)	splice site	probably null
R8056:Septin11	UTSW	5	93,315,435 (GRCm39)	missense	unknown
R8103:Septin11	UTSW	5	93,309,007 (GRCm39)	critical splice acceptor site	probably null
R9152:Septin11	UTSW	5	93,287,329 (GRCm39)	missense	probably benign	0.00
R9429:Septin11	UTSW	5	93,321,397 (GRCm39)	critical splice donor site	probably null
R9717:Septin11	UTSW	5	93,296,266 (GRCm39)	missense	possibly damaging	0.95
Z1177:Septin11	UTSW	5	93,310,142 (GRCm39)	missense	probably damaging	0.96
Z1177:Septin11	UTSW	5	93,304,822 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAGCTAGCAAGACATCCTCTATGC -3'
(R):5'- ACGCCAAGCTACTGAGGTAAC -3'

Sequencing Primer
(F):5'- GCTTTCTGGACCTTAGATCTTAAGAG -3'
(R):5'- AGCCTCATAGATACATAGTTGCTCTC -3'

Posted On

2015-04-06