Mutagenetix > Incidental Mutation

Incidental Mutation 'R5896:Septin11'

457506

Institutional Source

Beutler Lab

Gene Symbol

Septin11

Ensembl Gene

ENSMUSG00000058013

Gene Name

septin 11

Synonyms

D5Ertd606e, 6230410I01Rik, Sept11

MMRRC Submission

044095-MU

Accession Numbers

Essential gene?

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

Stock #

R5896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93241296-93324306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93304824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 214 (F214I)

Ref Sequence

ENSEMBL: ENSMUSP00000144136 (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: F214I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: F214I

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: F214I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: F214I

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: F214I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: F214I

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 damaging
Transcript: ENSMUST00000202196
AA Change: F157I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144573
Gene: ENSMUSG00000058013
AA Change: F157I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202217
AA Change: F214I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: F214I

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: F214I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: F214I

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

99% (86/87)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	T	16: 88,504,321 (GRCm39)	S159T	probably damaging	Het
2610028H24Rik	T	A	10: 76,288,664 (GRCm39)	M53K	probably benign	Het
3425401B19Rik	G	A	14: 32,383,632 (GRCm39)	Q778*	probably null	Het
Abhd16a	T	A	17: 35,310,701 (GRCm39)		probably benign	Het
Acp6	A	G	3: 97,075,810 (GRCm39)	K226R	probably benign	Het
Ankfy1	A	G	11: 72,650,811 (GRCm39)	D998G	probably damaging	Het
Apbb1	G	T	7: 105,223,432 (GRCm39)	P60T	probably damaging	Het
Apol9a	T	A	15: 77,288,705 (GRCm39)	I221F	probably benign	Het
Arhgap29	A	G	3: 121,805,736 (GRCm39)	E947G	possibly damaging	Het
B430218F22Rik	A	T	13: 118,523,934 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccdc93	G	T	1: 121,390,849 (GRCm39)	V274L	possibly damaging	Het
Cdc25a	A	G	9: 109,713,433 (GRCm39)	D191G	probably benign	Het
Cimip2a	A	T	2: 25,110,578 (GRCm39)	M129L	probably benign	Het
Cmya5	A	G	13: 93,182,373 (GRCm39)		probably null	Het
Crebzf	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	7: 90,092,479 (GRCm39)		probably benign	Het
Csde1	T	C	3: 102,947,859 (GRCm39)		probably benign	Het
Ctdp1	A	G	18: 80,502,003 (GRCm39)	L177P	probably damaging	Het
Dnah5	T	A	15: 28,272,206 (GRCm39)	H1003Q	probably benign	Het
Epb41l2	T	A	10: 25,369,494 (GRCm39)	N604K	probably damaging	Het
Fig4	T	A	10: 41,130,881 (GRCm39)	N465Y	possibly damaging	Het
Gemin7	G	A	7: 19,299,223 (GRCm39)	S124F	probably damaging	Het
Gli3	G	A	13: 15,900,765 (GRCm39)	R1384K	probably benign	Het
Gm12258	G	A	11: 58,750,457 (GRCm39)	C544Y	probably damaging	Het
Grm1	C	T	10: 10,956,294 (GRCm39)		probably benign	Het
H2-T15	T	A	17: 36,367,236 (GRCm39)	M329L	probably benign	Het
Hps4	C	T	5: 112,517,351 (GRCm39)	T246I	probably benign	Het
Ifngr2	A	T	16: 91,358,653 (GRCm39)	E284D	possibly damaging	Het
Impdh2	A	G	9: 108,441,165 (GRCm39)	T148A	probably benign	Het
Irx3	T	C	8: 92,527,763 (GRCm39)	S36G	probably benign	Het
Itga5	T	A	15: 103,259,514 (GRCm39)	K667N	probably benign	Het
Itgad	G	A	7: 127,773,188 (GRCm39)	C15Y	probably benign	Het
Ly75	T	G	2: 60,213,490 (GRCm39)	E29A	probably benign	Het
Magi1	T	A	6: 93,685,180 (GRCm39)	S506C	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Med23	T	C	10: 24,778,043 (GRCm39)	L797P	probably damaging	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Ncor1	G	T	11: 62,274,016 (GRCm39)	P55Q	probably damaging	Het
Odr4	A	T	1: 150,256,111 (GRCm39)	N211K	probably benign	Het
Ofcc1	T	A	13: 40,334,060 (GRCm39)	I344F	probably benign	Het
Or4a74	C	A	2: 89,439,667 (GRCm39)	V260F	probably damaging	Het
Or4d5	A	T	9: 40,012,189 (GRCm39)	M199K	probably damaging	Het
Or5d35	A	G	2: 87,855,465 (GRCm39)	Y133C	probably damaging	Het
Or5k1	G	A	16: 58,618,095 (GRCm39)	T38I	probably damaging	Het
Otub2	C	T	12: 103,369,687 (GRCm39)		probably benign	Het
Parva	A	G	7: 112,143,960 (GRCm39)	M83V	probably benign	Het
Pcdha8	T	A	18: 37,126,572 (GRCm39)	N351K	probably benign	Het
Pcdhb5	T	A	18: 37,455,732 (GRCm39)	L704*	probably null	Het
Pkd1l3	T	A	8: 110,353,468 (GRCm39)	L683H	probably damaging	Het
Plekhn1	C	T	4: 156,308,331 (GRCm39)	R288H	probably benign	Het
Polr2a	A	T	11: 69,627,086 (GRCm39)	N1457K	probably damaging	Het
Ppp1r12b	A	G	1: 134,693,719 (GRCm39)	S981P	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,648 (GRCm39)	K1062E	probably damaging	Het
Ptpre	A	T	7: 135,276,007 (GRCm39)	T498S	probably benign	Het
Pus7l	C	T	15: 94,427,332 (GRCm39)		probably null	Het
Rptn	C	T	3: 93,305,639 (GRCm39)	Q991*	probably null	Het
Rsu1	T	G	2: 13,229,170 (GRCm39)	E76A	probably damaging	Het
Slc1a7	G	T	4: 107,869,587 (GRCm39)	A551S	probably benign	Het
Slc45a2	T	A	15: 11,000,941 (GRCm39)	Y13*	probably null	Het
Slc7a14	T	G	3: 31,311,719 (GRCm39)	L100F	probably damaging	Het
Slit3	A	G	11: 35,598,932 (GRCm39)	E1512G	probably damaging	Het
Stat5a	A	G	11: 100,767,883 (GRCm39)	Q458R	possibly damaging	Het
Svep1	T	C	4: 58,084,906 (GRCm39)	T1811A	possibly damaging	Het
Tarbp1	A	G	8: 127,179,667 (GRCm39)	F624L	probably benign	Het
Tfeb	T	G	17: 48,070,433 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,891,126 (GRCm39)	G490R	probably damaging	Het
Tra2b	T	C	16: 22,077,953 (GRCm39)	Y32C	probably damaging	Het
Trpv4	C	T	5: 114,760,708 (GRCm39)		probably benign	Het
Uvrag	A	T	7: 98,637,414 (GRCm39)	L138*	probably null	Het
Vwf	A	T	6: 125,655,725 (GRCm39)		probably null	Het
Wdr47	G	A	3: 108,526,322 (GRCm39)	D282N	probably damaging	Het
Xirp2	A	G	2: 67,340,290 (GRCm39)	N844D	possibly damaging	Het
Xirp2	A	G	2: 67,339,042 (GRCm39)	M428V	probably benign	Het
Znfx1	G	A	2: 166,880,920 (GRCm39)	T288I	probably damaging	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
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'- GCCTGCACCTTACAATGGTG -3'
(R):5'- AGTTAGGTGACTGGAAGTCCC -3'

Sequencing Primer
(F):5'- CACCTTACAATGGTGCCTTGTGG -3'
(R):5'- TGACTGGAAGTCCCACTGAG -3'

Posted On

2017-02-15