Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Sept5'

221722

Institutional Source

Beutler Lab

Gene Symbol

Sept5

Ensembl Gene

ENSMUSG00000072214

Gene Name

septin 5

Synonyms

Cdcrel1, Pnutl1

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18620502-18629954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 18623012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 331 (L331R)

Ref Sequence

ENSEMBL: ENSMUSP00000156292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051160] [ENSMUST00000096987] [ENSMUST00000167388] [ENSMUST00000231244] [ENSMUST00000231335] [ENSMUST00000231622] [ENSMUST00000231956] [ENSMUST00000232653]

AlphaFold

Q9Z2Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000051160

SMART Domains

Protein: ENSMUSP00000059270
Gene: ENSMUSG00000050761

Domain	Start	End	E-Value	Type
low complexity region	7	32	N/A	INTRINSIC
LRRNT	33	67	4.14e-11	SMART
low complexity region	75	94	N/A	INTRINSIC
LRRCT	97	150	4.88e-14	SMART
transmembrane domain	159	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096987
AA Change: L319R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: L319R

Domain	Start	End	E-Value	Type
Pfam:Septin	41	321	1.2e-127	PFAM
Pfam:MMR_HSR1	46	190	5.1e-7	PFAM
low complexity region	355	369	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167388

SMART Domains

Protein: ENSMUSP00000126292
Gene: ENSMUSG00000050761

Domain	Start	End	E-Value	Type
LRRNT	25	59	4.14e-11	SMART
low complexity region	67	86	N/A	INTRINSIC
LRRCT	89	142	4.88e-14	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231246

Predicted Effect

probably benign
Transcript: ENSMUST00000231335
AA Change: L328R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231400

Predicted Effect

probably benign
Transcript: ENSMUST00000231622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231642

Predicted Effect

probably benign
Transcript: ENSMUST00000231956
AA Change: L331R

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232152

Predicted Effect

probably benign
Transcript: ENSMUST00000232653
AA Change: L328R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.2515

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene show no gross phenotypic changes. Partial defects in synaptic transmission is reported for one allele, and platelet secretion and modest behavioral defects reported for a different allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,094 (GRCm38)		probably benign	Het
Abhd15	A	G	11: 77,518,338 (GRCm38)	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,562,665 (GRCm38)	P192L	probably benign	Het
Aldoart1	T	G	4: 72,852,542 (GRCm38)	I10L	probably benign	Het
Ankhd1	G	A	18: 36,645,113 (GRCm38)	G1653D	probably benign	Het
Ankk1	A	C	9: 49,419,364 (GRCm38)		probably null	Het
Astn1	A	G	1: 158,600,502 (GRCm38)	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,939,915 (GRCm38)	R52L	possibly damaging	Het
Ccdc151	T	G	9: 21,991,858 (GRCm38)	T419P	possibly damaging	Het
Ccdc33	G	A	9: 58,031,112 (GRCm38)	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644 (GRCm38)	S10P	probably damaging	Het
Cdc6	C	A	11: 98,910,461 (GRCm38)	F179L	probably benign	Het
Cdc7	T	A	5: 106,983,132 (GRCm38)	V491E	probably benign	Het
Cdh23	G	T	10: 60,596,730 (GRCm38)	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,037,755 (GRCm38)	H299R	probably benign	Het
Ciart	A	T	3: 95,878,701 (GRCm38)	M354K	probably benign	Het
Clasrp	G	T	7: 19,586,715 (GRCm38)		probably benign	Het
Col4a3	G	A	1: 82,696,319 (GRCm38)	G1132E	unknown	Het
Crebbp	G	A	16: 4,084,823 (GRCm38)	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,550,405 (GRCm38)	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492 (GRCm38)	R27M	probably null	Het
Ddhd2	A	G	8: 25,752,165 (GRCm38)	F116L	probably damaging	Het
Dgkd	G	A	1: 87,927,691 (GRCm38)	R685K	probably benign	Het
Dnah2	A	G	11: 69,524,240 (GRCm38)	S223P	probably benign	Het
Exph5	A	T	9: 53,372,679 (GRCm38)	R353S	possibly damaging	Het
F11	C	A	8: 45,252,118 (GRCm38)	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,459,397 (GRCm38)	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,587,207 (GRCm38)	I50T	probably damaging	Het
Fam20c	T	C	5: 138,756,227 (GRCm38)		probably null	Het
Fam234b	A	G	6: 135,226,914 (GRCm38)	T405A	probably benign	Het
Fbxo18	C	A	2: 11,762,970 (GRCm38)	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,762,313 (GRCm38)	Q132*	probably null	Het
Foxo6	T	C	4: 120,286,969 (GRCm38)	D95G	probably benign	Het
Ggt5	T	C	10: 75,604,087 (GRCm38)	F174S	probably damaging	Het
Gm7104	G	A	12: 88,285,781 (GRCm38)		noncoding transcript	Het
Gpr155	A	G	2: 73,373,633 (GRCm38)	L279P	probably damaging	Het
H2-T23	A	G	17: 36,032,191 (GRCm38)	L98P	probably damaging	Het
Heatr5a	A	G	12: 51,955,403 (GRCm38)	V250A	probably benign	Het
Heyl	A	T	4: 123,241,363 (GRCm38)	I50F	probably damaging	Het
Hist4h4	G	C	6: 136,804,103 (GRCm38)	R93G	possibly damaging	Het
Ifitm10	A	T	7: 142,356,034 (GRCm38)	S179R	probably damaging	Het
Isg15	A	T	4: 156,199,792 (GRCm38)	I93N	probably benign	Het
Itga10	G	A	3: 96,657,690 (GRCm38)	V985I	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Kcnt2	T	C	1: 140,375,154 (GRCm38)	I144T	probably benign	Het
Klk1	A	C	7: 44,229,034 (GRCm38)	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,933,442 (GRCm38)	R654L	probably damaging	Het
Lmod1	A	T	1: 135,364,387 (GRCm38)	M327L	probably benign	Het
Lonrf2	T	C	1: 38,807,050 (GRCm38)	E347G	probably benign	Het
Ltbp1	A	G	17: 75,276,432 (GRCm38)	Y409C	probably damaging	Het
Mecom	A	T	3: 29,980,592 (GRCm38)	Y312N	probably damaging	Het
Mrgprb3	C	T	7: 48,643,734 (GRCm38)	C23Y	possibly damaging	Het
Mut	A	G	17: 40,941,451 (GRCm38)	T295A	probably benign	Het
Nadk	C	A	4: 155,585,441 (GRCm38)	L194I	probably damaging	Het
Naxd	A	G	8: 11,509,510 (GRCm38)	I182V	probably benign	Het
Nbeal1	T	A	1: 60,319,687 (GRCm38)	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,529,521 (GRCm38)	R81L	possibly damaging	Het
Olfr1297	T	A	2: 111,621,814 (GRCm38)	R87W	probably benign	Het
Olfr1411	G	T	1: 92,596,969 (GRCm38)	R150L	probably benign	Het
Olfr957	A	T	9: 39,511,378 (GRCm38)	M114K	probably damaging	Het
Pcdh18	A	G	3: 49,754,940 (GRCm38)	V642A	probably benign	Het
Pdzk1	G	A	3: 96,855,848 (GRCm38)		probably benign	Het
Per3	C	T	4: 151,033,938 (GRCm38)	V233I	probably benign	Het
Pisd	G	A	5: 32,764,796 (GRCm38)	P267S	possibly damaging	Het
Prm1	T	A	16: 10,796,493 (GRCm38)		probably benign	Het
Ptprj	A	G	2: 90,463,095 (GRCm38)	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,673,367 (GRCm38)		probably benign	Het
Raver2	T	A	4: 101,102,812 (GRCm38)	V163D	probably damaging	Het
Rbm14	A	T	19: 4,803,877 (GRCm38)	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,718,126 (GRCm38)	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,272,863 (GRCm38)		probably benign	Het
Rpl28-ps4	T	A	6: 117,213,895 (GRCm38)		noncoding transcript	Het
Rsph10b	A	G	5: 143,967,250 (GRCm38)		probably null	Het
Rspo4	A	G	2: 151,873,093 (GRCm38)	K217E	unknown	Het
Scgb2b27	G	A	7: 34,013,285 (GRCm38)	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,111,435 (GRCm38)		probably benign	Het
Sec31b	T	C	19: 44,536,156 (GRCm38)	N101D	probably benign	Het
Sema6a	A	T	18: 47,306,429 (GRCm38)	C9*	probably null	Het
Slc16a11	C	A	11: 70,215,651 (GRCm38)	Y238*	probably null	Het
Slc25a12	T	C	2: 71,312,548 (GRCm38)	T210A	probably benign	Het
Slc35f1	A	T	10: 53,089,347 (GRCm38)	Y286F	probably damaging	Het
Szt2	A	T	4: 118,376,448 (GRCm38)	L2225*	probably null	Het
Thap12	T	C	7: 98,716,620 (GRCm38)	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,367,724 (GRCm38)	W237R	probably damaging	Het
Tyk2	T	C	9: 21,120,341 (GRCm38)	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm38)	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,502,590 (GRCm38)	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 13,131,821 (GRCm38)	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,537,841 (GRCm38)	V821A	probably damaging	Het
Zfp689	C	A	7: 127,444,826 (GRCm38)	G211C	probably damaging	Het
Zfp827	A	G	8: 79,076,236 (GRCm38)	D479G	probably benign	Het
Zfp995	A	C	17: 21,880,594 (GRCm38)	F220V	probably damaging	Het

Other mutations in Sept5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Sept5	APN	16	18,624,930 (GRCm38)	missense	probably damaging	1.00
IGL02124:Sept5	APN	16	18,624,829 (GRCm38)	missense	probably damaging	0.98
IGL02211:Sept5	APN	16	18,624,879 (GRCm38)	missense	probably damaging	1.00
IGL02934:Sept5	APN	16	18,629,831 (GRCm38)	missense	probably damaging	0.99
R0518:Sept5	UTSW	16	18,624,897 (GRCm38)	missense	probably benign	0.02
R0521:Sept5	UTSW	16	18,624,897 (GRCm38)	missense	probably benign	0.02
R0627:Sept5	UTSW	16	18,625,365 (GRCm38)	missense	possibly damaging	0.90
R0746:Sept5	UTSW	16	18,623,225 (GRCm38)	missense	probably damaging	1.00
R0891:Sept5	UTSW	16	18,624,845 (GRCm38)	missense	probably damaging	1.00
R1037:Sept5	UTSW	16	18,623,094 (GRCm38)	splice site	probably benign
R1850:Sept5	UTSW	16	18,625,210 (GRCm38)	missense	probably damaging	1.00
R3872:Sept5	UTSW	16	18,622,973 (GRCm38)	missense	probably damaging	0.98
R4498:Sept5	UTSW	16	18,623,392 (GRCm38)	missense	probably damaging	1.00
R5503:Sept5	UTSW	16	18,623,368 (GRCm38)	missense	probably benign	0.00
R5963:Sept5	UTSW	16	18,624,212 (GRCm38)	splice site	probably null
R6286:Sept5	UTSW	16	18,623,377 (GRCm38)	missense	probably damaging	0.99
R7014:Sept5	UTSW	16	18,624,909 (GRCm38)	missense	probably damaging	1.00
R7909:Sept5	UTSW	16	18,624,622 (GRCm38)	missense	probably damaging	1.00
R8708:Sept5	UTSW	16	18,624,872 (GRCm38)	missense	probably benign	0.01
R8888:Sept5	UTSW	16	18,623,111 (GRCm38)	missense	possibly damaging	0.81
R8895:Sept5	UTSW	16	18,623,111 (GRCm38)	missense	possibly damaging	0.81
R9210:Sept5	UTSW	16	18,624,211 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ATCTCCTGCATGCGCCTTAG -3'
(R):5'- TGCACGACCTCAAAGATGTGAC -3'

Sequencing Primer
(F):5'- CATGCGCCTTAGCTGGTG -3'
(R):5'- CCTCAAAGATGTGACGTGCGAC -3'

Posted On

2014-08-25