Mutagenetix > Incidental Mutation

Incidental Mutation 'R1702:Septin11'

189788

Institutional Source

Beutler Lab

Gene Symbol

Septin11

Ensembl Gene

ENSMUSG00000058013

Gene Name

septin 11

Synonyms

D5Ertd606e, 6230410I01Rik, Sept11

MMRRC Submission

039735-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93241296-93324306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93304783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 200 (I200N)

Ref Sequence

ENSEMBL: ENSMUSP00000144235 (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: I200N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: I200N

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: I200N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: I200N

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: I200N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: I200N

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: I143N

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

SMART Domains

Protein: ENSMUSP00000144573
Gene: ENSMUSG00000058013
AA Change: I143N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202217
AA Change: I200N

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

SMART Domains

Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: I200N

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: I200N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: I200N

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: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,981,925 (GRCm39)	V1080A	probably benign	Het
Abcg4	A	C	9: 44,186,370 (GRCm39)	V553G	probably damaging	Het
Ache	T	C	5: 137,289,251 (GRCm39)	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,172,787 (GRCm39)	M134K	possibly damaging	Het
Ank2	A	T	3: 126,749,548 (GRCm39)	S494T	probably benign	Het
Asic3	A	T	5: 24,620,454 (GRCm39)	T202S	probably damaging	Het
Baiap3	T	A	17: 25,463,779 (GRCm39)	H886L	probably damaging	Het
Bltp2	T	A	11: 78,179,854 (GRCm39)	C2126S	probably damaging	Het
Cidea	T	A	18: 67,499,491 (GRCm39)	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,751,903 (GRCm39)	K366T	probably benign	Het
Cntrl	A	T	2: 35,061,848 (GRCm39)		probably null	Het
Crhr2	A	G	6: 55,069,520 (GRCm39)	F378S	probably damaging	Het
Deaf1	C	G	7: 140,894,867 (GRCm39)	R303T	probably damaging	Het
Dnah9	T	A	11: 65,976,021 (GRCm39)	N1343Y	possibly damaging	Het
Dop1b	A	G	16: 93,544,509 (GRCm39)	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,216,773 (GRCm39)		probably null	Het
Dst	T	C	1: 34,206,421 (GRCm39)	V598A	probably damaging	Het
Ece2	C	T	16: 20,449,996 (GRCm39)	R136C	probably damaging	Het
Efcab3	C	T	11: 104,581,832 (GRCm39)	P58L	probably benign	Het
Egf	C	A	3: 129,484,460 (GRCm39)	V453L	probably benign	Het
Egr3	T	A	14: 70,317,216 (GRCm39)	F342L	probably damaging	Het
Eif2ak2	A	T	17: 79,164,063 (GRCm39)	I434N	probably damaging	Het
Emc1	A	G	4: 139,102,512 (GRCm39)	T936A	probably damaging	Het
Fmod	A	T	1: 133,968,500 (GRCm39)	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,634,848 (GRCm39)	T112A	probably damaging	Het
Gak	T	C	5: 108,754,242 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,603,089 (GRCm39)		probably null	Het
Gm2381	T	A	7: 42,469,655 (GRCm39)	Q156H	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Homez	T	A	14: 55,094,452 (GRCm39)	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,056,617 (GRCm39)	Y184*	probably null	Het
Il11	A	G	7: 4,776,733 (GRCm39)	S86P	probably damaging	Het
Itgal	A	G	7: 126,904,197 (GRCm39)	N270S	probably benign	Het
Lama2	T	C	10: 27,066,525 (GRCm39)	R1119G	probably benign	Het
Lamp3	G	T	16: 19,494,822 (GRCm39)	N294K	probably benign	Het
Mars1	T	C	10: 127,145,948 (GRCm39)	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,839,485 (GRCm39)	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,518 (GRCm39)	I65T	probably benign	Het
Mmrn2	A	T	14: 34,119,871 (GRCm39)	N247I	probably benign	Het
Muc6	G	T	7: 141,236,752 (GRCm39)	N322K	probably damaging	Het
Mx2	A	G	16: 97,359,883 (GRCm39)	H551R	probably benign	Het
Mylk	T	A	16: 34,742,314 (GRCm39)	V942E	probably benign	Het
Nes	A	G	3: 87,883,286 (GRCm39)	E515G	probably benign	Het
Nfatc3	T	G	8: 106,818,792 (GRCm39)	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339 (GRCm39)		probably null	Het
Noxa1	A	G	2: 24,982,596 (GRCm39)	V73A	probably damaging	Het
Nup160	A	T	2: 90,514,302 (GRCm39)	E83D	probably damaging	Het
Or12j3	A	T	7: 139,952,655 (GRCm39)	Y289*	probably null	Het
Or4z4	C	A	19: 12,076,530 (GRCm39)	V158L	probably benign	Het
Or5ac23	C	A	16: 59,149,504 (GRCm39)	V123L	probably benign	Het
Or8b56	A	G	9: 38,739,839 (GRCm39)	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,046,187 (GRCm39)		probably null	Het
Rundc3b	A	G	5: 8,562,318 (GRCm39)	V350A	probably benign	Het
Scn1a	C	T	2: 66,148,567 (GRCm39)	D993N	probably damaging	Het
Sec24c	G	T	14: 20,736,641 (GRCm39)	G226V	probably null	Het
Shank3	G	T	15: 89,384,099 (GRCm39)	G14C	probably damaging	Het
Skic3	A	G	13: 76,270,862 (GRCm39)	K153R	possibly damaging	Het
Slc25a39	T	C	11: 102,297,452 (GRCm39)	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,412,852 (GRCm39)	T169S	probably benign	Het
Taf1b	T	A	12: 24,559,125 (GRCm39)	I83K	possibly damaging	Het
Tarbp1	T	A	8: 127,154,957 (GRCm39)	Q1389L	probably damaging	Het
Thbs1	T	A	2: 117,943,923 (GRCm39)	D180E	probably benign	Het
Tmc5	T	A	7: 118,271,462 (GRCm39)	V925D	probably benign	Het
Tmem62	T	C	2: 120,809,708 (GRCm39)	V130A	probably damaging	Het
Tpp2	C	T	1: 44,029,708 (GRCm39)	P997L	probably damaging	Het
Trip12	A	T	1: 84,722,784 (GRCm39)	I127N	probably damaging	Het
Upp2	T	C	2: 58,661,562 (GRCm39)	F142L	possibly damaging	Het
Usf3	C	T	16: 44,039,995 (GRCm39)	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840 (GRCm39)	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,652,394 (GRCm39)	V186I	possibly damaging	Het
Washc2	T	C	6: 116,206,267 (GRCm39)	S496P	probably damaging	Het
Wee2	T	C	6: 40,441,135 (GRCm39)	I480T	probably benign	Het
Xylt2	T	A	11: 94,559,571 (GRCm39)	H357L	probably damaging	Het
Zbed4	T	C	15: 88,665,056 (GRCm39)	S375P	probably damaging	Het
Zfp442	A	T	2: 150,251,100 (GRCm39)	Y266*	probably null	Het
Zfp600	A	G	4: 146,133,497 (GRCm39)	T722A	probably benign	Het
Zfp976	T	A	7: 42,265,424 (GRCm39)	H55L	possibly 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
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
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'- CTGGCACATTTTCACGGTCTAGCTC -3'
(R):5'- TTCTGCCAACGCCGACCAAGTAAG -3'

Sequencing Primer
(F):5'- ACGGTCTAGCTCTCCTTCTCG -3'
(R):5'- aaataatcctgccttcttttcctac -3'

Posted On

2014-05-14