Mutagenetix > Incidental Mutations

Incidental Mutation 'R7144:Sept11'

553624

Institutional Source

Beutler Lab

Gene Symbol

Sept11

Ensembl Gene

ENSMUSG00000058013

Gene Name

septin 11

Synonyms

6230410I01Rik, D5Ertd606e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93093437-93176447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93156866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 181 (I181V)

Ref Sequence

ENSEMBL: ENSMUSP00000074293 (fasta)

Gene Model

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

AlphaFold

Q8C1B7

Predicted Effect

probably benign
Transcript: ENSMUST00000074733
AA Change: I181V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: I181V

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 benign
Transcript: ENSMUST00000201421
AA Change: I181V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: I181V

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 benign
Transcript: ENSMUST00000201700
AA Change: I181V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: I181V

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
AA Change: I124V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144573
Gene: ENSMUSG00000058013
AA Change: I124V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202217
AA Change: I181V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: I181V

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 benign
Transcript: ENSMUST00000202308
AA Change: I181V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: I181V

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

0.0794

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,433,573	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,510,370	M184I	probably benign	Het
Aldoa	G	T	7: 126,796,862	T124N	possibly damaging	Het
Ap4e1	T	A	2: 127,011,807	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,865,387	T913A	probably benign	Het
Atrnl1	G	A	19: 58,042,352	E1309K	probably damaging	Het
BC034090	A	T	1: 155,242,031	C114S	probably damaging	Het
Brinp2	A	G	1: 158,295,424		probably null	Het
Ccna1	G	T	3: 55,045,699	H408Q	probably benign	Het
Cd209g	T	G	8: 4,135,189		probably benign	Het
Cdc20b	A	G	13: 113,083,371	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,354,358	P5L	probably damaging	Het
Cep128	T	C	12: 91,294,159	E310G	probably damaging	Het
Cflar	G	T	1: 58,753,848	V458F		Het
Clec4b2	A	G	6: 123,181,384	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,286,888	T741A	probably benign	Het
Csf3r	A	T	4: 126,043,722	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,637,899	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,615,694	V406E	probably benign	Het
Dnah10	A	G	5: 124,822,942	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,698,708		probably null	Het
Dst	A	G	1: 34,152,243	N208S	probably damaging	Het
Echdc3	A	G	2: 6,206,413		probably null	Het
Edrf1	T	C	7: 133,637,849	S13P	probably benign	Het
Ephb1	T	C	9: 101,964,077	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,472,185	Y325C	probably damaging	Het
Evc2	A	G	5: 37,386,839	D644G	probably damaging	Het
Eya4	A	C	10: 23,173,045	D54E	probably benign	Het
Filip1	T	C	9: 79,820,213	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,677,620	M68T	probably benign	Het
Gemin5	G	C	11: 58,141,663	P772A	probably benign	Het
Gle1	T	G	2: 29,943,793	C401G	probably damaging	Het
Gm14548	A	G	7: 3,897,616	V45A	probably damaging	Het
Gm7298	A	T	6: 121,761,587	I376F	probably damaging	Het
Gpr35	A	C	1: 92,982,631	I22L	probably benign	Het
Grin2b	T	G	6: 135,733,476	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,663,873	N2956D	probably damaging	Het
Htt	T	C	5: 34,846,006	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,743,691	D2G	probably benign	Het
Il16	T	A	7: 83,646,451	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,116,910	I1513N	probably damaging	Het
Kiz	T	G	2: 146,950,510		probably null	Het
Krt12	A	T	11: 99,416,013	*488K	probably null	Het
Lap3	A	T	5: 45,496,948	T83S	probably benign	Het
Lars2	T	A	9: 123,431,993	S410T	probably damaging	Het
Limch1	A	G	5: 67,017,658	T518A	probably benign	Het
Lrrc49	A	T	9: 60,615,156	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,734,055	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,318	S363C	probably damaging	Het
Mrps22	A	C	9: 98,601,471		probably null	Het
Mybpc3	T	C	2: 91,134,604	I1066T	probably benign	Het
Myo10	A	T	15: 25,723,925	N215I	probably damaging	Het
Myocd	A	C	11: 65,218,648	L99R	probably damaging	Het
Nadk	T	G	4: 155,589,336	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,811,215	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapd2	G	A	6: 125,176,670	P694L	probably benign	Het
Olfr1101	G	T	2: 86,988,820	R119S	probably damaging	Het
Olfr1243	T	C	2: 89,527,557	I284M	probably damaging	Het
Olfr317	A	C	11: 58,732,745	L140R	probably damaging	Het
Olfr705	T	A	7: 106,873,868	I126F	probably damaging	Het
Pcdhb13	T	A	18: 37,443,256	I229K	probably damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Phactr3	A	G	2: 178,302,736	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,629,870	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,650,584	V379M	probably damaging	Het
Pkd1l2	A	T	8: 117,076,131	C250*	probably null	Het
Pramef17	A	C	4: 143,991,533	S447A	probably benign	Het
Rapgef6	A	C	11: 54,657,365	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,805,191	D170G	probably damaging	Het
Rnf17	G	A	14: 56,512,332		probably null	Het
Serpina1e	T	G	12: 103,947,018	*414C	probably null	Het
Serpine1	C	A	5: 137,071,064	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,561,631	N560S	probably benign	Het
Slc25a25	A	G	2: 32,419,166	F221S	probably damaging	Het
Spag17	G	T	3: 100,027,401		probably null	Het
Sspn	T	C	6: 145,961,155	L104P	probably damaging	Het
St18	A	C	1: 6,833,594	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,411,532	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,876,669	D156G	probably damaging	Het
Syne2	C	A	12: 76,005,378	S4092R	probably benign	Het
Tll1	T	A	8: 64,124,945	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,308,453		probably benign	Het
Tnfaip3	T	A	10: 19,007,281	T179S	probably benign	Het
Trav16	T	C	14: 53,743,639	I95T	possibly damaging	Het
Trip12	A	T	1: 84,793,714	S280T	probably damaging	Het
Unc79	A	G	12: 103,142,626	M2166V	probably benign	Het
Vmn2r1	A	G	3: 64,089,941	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,605,431		probably null	Het
Washc4	A	T	10: 83,573,774		probably null	Het
Wisp1	T	A	15: 66,913,030	V184E	probably damaging	Het
Wiz	A	G	17: 32,357,628	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,110,041	K60N	possibly damaging	Het
Zfat	T	A	15: 68,178,782	T797S	probably benign	Het
Zfp74	T	C	7: 29,935,165	K373E	probably damaging	Het
Zswim5	T	C	4: 116,975,976		probably null	Het

Other mutations in Sept11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Sept11	APN	5	93157018	splice site	probably null
IGL00984:Sept11	APN	5	93162184	missense	possibly damaging	0.90
IGL01452:Sept11	APN	5	93161204	missense	possibly damaging	0.82
IGL01677:Sept11	APN	5	93148533	missense	probably damaging	0.98
IGL01732:Sept11	APN	5	93161226	missense	probably damaging	1.00
IGL02476:Sept11	APN	5	93148584	critical splice donor site	probably null
I0000:Sept11	UTSW	5	93165259	missense	probably benign	0.05
R0544:Sept11	UTSW	5	93165368	missense	possibly damaging	0.80
R0611:Sept11	UTSW	5	93167534	missense	probably damaging	0.99
R1438:Sept11	UTSW	5	93148428	missense	probably damaging	1.00
R1702:Sept11	UTSW	5	93156924	missense	probably damaging	1.00
R1727:Sept11	UTSW	5	93156924	missense	probably damaging	1.00
R3838:Sept11	UTSW	5	93148399	missense	probably damaging	1.00
R3847:Sept11	UTSW	5	93162167	missense	probably damaging	1.00
R4609:Sept11	UTSW	5	93162254	missense	possibly damaging	0.89
R4717:Sept11	UTSW	5	93156956	missense	possibly damaging	0.89
R4852:Sept11	UTSW	5	93162253	missense	possibly damaging	0.52
R4986:Sept11	UTSW	5	93161241	missense	probably damaging	1.00
R5806:Sept11	UTSW	5	93167578	missense	probably benign	0.18
R5826:Sept11	UTSW	5	93139450	missense	possibly damaging	0.79
R5896:Sept11	UTSW	5	93156965	missense	probably damaging	1.00
R6641:Sept11	UTSW	5	93139552	missense	probably damaging	1.00
R7479:Sept11	UTSW	5	93156945	missense	probably damaging	0.99
R7757:Sept11	UTSW	5	93171464	splice site	probably null
R8056:Sept11	UTSW	5	93167576	missense	unknown
R8103:Sept11	UTSW	5	93161148	critical splice acceptor site	probably null
R9152:Sept11	UTSW	5	93139470	missense	probably benign	0.00
R9429:Sept11	UTSW	5	93173538	critical splice donor site	probably null
Z1177:Sept11	UTSW	5	93156963	missense	probably damaging	0.96
Z1177:Sept11	UTSW	5	93162283	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCTGAGAGGATTCTGCATCTG -3'
(R):5'- AATGCTAGCAGGACACAAGC -3'

Sequencing Primer
(F):5'- GCATCTGAATTTATCATCCAGGAGG -3'
(R):5'- CTAGCAGGACACAAGCTTGCTG -3'

Posted On

2019-05-15