Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Septin11'

628513

Institutional Source

Beutler Lab

Gene Symbol

Septin11

Ensembl Gene

ENSMUSG00000058013

Gene Name

septin 11

Synonyms

D5Ertd606e, 6230410I01Rik, Sept11

MMRRC Submission

045813-MU

Accession Numbers

Essential gene?

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

Stock #

R7757 (G1)

Quality Score

90.0077

Status

Validated

Chromosome

Chromosomal Location

93241296-93324306 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 93319323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144235 (fasta)

Gene Model

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

AlphaFold

Q8C1B7

Predicted Effect

probably benign
Transcript: ENSMUST00000074733

SMART Domains

Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013

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 null
Transcript: ENSMUST00000201421

SMART Domains

Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013

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

SMART Domains

Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013

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 null
Transcript: ENSMUST00000202217

SMART Domains

Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013

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

SMART Domains

Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,236,187 (GRCm39)	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 155,845,351 (GRCm39)	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166 (GRCm38)	N659S	probably damaging	Het
Agk	T	C	6: 40,353,212 (GRCm39)	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,664,666 (GRCm39)		probably null	Het
Bche	T	A	3: 73,608,454 (GRCm39)	D324V	probably damaging	Het
Bsn	A	G	9: 107,991,939 (GRCm39)	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,582,246 (GRCm39)	L120P	probably damaging	Het
Cep290	T	A	10: 100,399,296 (GRCm39)	S2273T	probably benign	Het
Ckap4	T	C	10: 84,364,331 (GRCm39)	E244G	probably damaging	Het
Clcn7	T	C	17: 25,375,796 (GRCm39)	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,234,780 (GRCm39)	T103S	possibly damaging	Het
Cplane1	A	T	15: 8,281,711 (GRCm39)	E2850V	unknown	Het
Cpne9	G	A	6: 113,261,406 (GRCm39)	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,377,249 (GRCm39)	I2043N		Het
Disc1	A	G	8: 125,814,243 (GRCm39)	T36A	probably benign	Het
Disp2	T	C	2: 118,621,391 (GRCm39)	Y708H	probably damaging	Het
Dnah3	A	G	7: 119,670,793 (GRCm39)	V635A	probably benign	Het
Dnah3	A	T	7: 119,570,438 (GRCm39)		probably null	Het
Dync1li1	A	G	9: 114,538,345 (GRCm39)	H234R	possibly damaging	Het
Egfr	T	C	11: 16,839,966 (GRCm39)	V660A	possibly damaging	Het
Epb42	T	C	2: 120,858,200 (GRCm39)	R253G	possibly damaging	Het
Fat2	T	A	11: 55,202,247 (GRCm39)	T276S	probably benign	Het
Fcho2	A	G	13: 98,901,011 (GRCm39)		probably null	Het
Ginm1	A	T	10: 7,655,119 (GRCm39)	I41N	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm49368	C	T	7: 127,711,398 (GRCm39)	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,207 (GRCm39)	I297F	probably benign	Het
Gprc5a	T	A	6: 135,056,342 (GRCm39)	I263N	possibly damaging	Het
Gys2	A	T	6: 142,400,177 (GRCm39)	S345T	probably benign	Het
Hk2	T	C	6: 82,719,896 (GRCm39)	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,579,290 (GRCm39)	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,400,965 (GRCm39)	D455A	probably benign	Het
Irs2	T	A	8: 11,056,522 (GRCm39)	K637*	probably null	Het
Jak2	T	C	19: 29,260,946 (GRCm39)	V314A	probably benign	Het
Mei1	C	T	15: 81,966,824 (GRCm39)		probably benign	Het
Mill1	T	C	7: 17,996,391 (GRCm39)	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884 (GRCm39)		probably null	Het
Mup8	C	A	4: 60,220,332 (GRCm39)	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333 (GRCm39)	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,429,055 (GRCm39)	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,296,609 (GRCm39)	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,755,191 (GRCm39)	R8S	probably benign	Het
Nrcam	C	T	12: 44,596,681 (GRCm39)	Q25*	probably null	Het
Nudt16	A	C	9: 105,008,760 (GRCm39)	M47R	probably damaging	Het
Nup62	T	C	7: 44,478,419 (GRCm39)	S145P	probably benign	Het
Or10d1	A	G	9: 39,483,761 (GRCm39)	W265R	probably benign	Het
Or4c117	T	C	2: 88,955,333 (GRCm39)	I247M	possibly damaging	Het
Osbpl1a	A	T	18: 13,066,657 (GRCm39)	V34D	probably benign	Het
Otogl	T	A	10: 107,712,782 (GRCm39)	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,582,887 (GRCm39)	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,136,300 (GRCm39)		probably benign	Het
Pkhd1	A	G	1: 20,632,639 (GRCm39)	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,734,187 (GRCm39)	H480R	probably benign	Het
Rnf216	T	A	5: 143,065,991 (GRCm39)	K532N	probably damaging	Het
Schip1	C	A	3: 68,525,028 (GRCm39)	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,233 (GRCm39)	E117V	possibly damaging	Het
Shprh	A	T	10: 11,037,924 (GRCm39)	E420V	probably benign	Het
Ska1	T	A	18: 74,330,044 (GRCm39)	H232L	probably benign	Het
Slc36a4	A	G	9: 15,630,956 (GRCm39)	N25S	possibly damaging	Het
Slitrk3	G	A	3: 72,958,172 (GRCm39)	T200M	probably damaging	Het
Smad2	C	T	18: 76,421,084 (GRCm39)	H138Y	probably benign	Het
Snx21	T	C	2: 164,628,085 (GRCm39)	S34P	probably damaging	Het
Sos2	A	G	12: 69,695,359 (GRCm39)	V126A	probably damaging	Het
Srcap	C	T	7: 127,129,966 (GRCm39)	T596I	probably damaging	Het
Stk31	T	G	6: 49,383,877 (GRCm39)		probably null	Het
Stox1	T	C	10: 62,499,743 (GRCm39)	D939G	probably damaging	Het
Syne2	G	T	12: 76,108,553 (GRCm39)	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,667,684 (GRCm39)	N88K	possibly damaging	Het
Tll2	A	T	19: 41,084,447 (GRCm39)	V677E	probably damaging	Het
Ttn	T	C	2: 76,748,834 (GRCm39)	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341 (GRCm39)		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330 (GRCm39)		probably benign	Het
Vmn2r43	A	T	7: 8,258,253 (GRCm39)	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,135,205 (GRCm39)	G204*	probably null	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
R3847:Septin11	UTSW	5	93,310,026 (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
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'- GGTCCCATAATCATTGCATGAGC -3'
(R):5'- TCCAAAGCGACATACAAGGG -3'

Sequencing Primer
(F):5'- AATGCTGGCGCTGGTACTC -3'
(R):5'- TACAAGGGACAGACATGCTTCCTG -3'

Posted On

2020-04-27