Mutagenetix > Incidental Mutation

Incidental Mutation 'R9210:Septin5'

698816

Institutional Source

Beutler Lab

Gene Symbol

Septin5

Ensembl Gene

ENSMUSG00000072214

Gene Name

septin 5

Synonyms

Cdcrel1, Pnutl1, Sept5

MMRRC Submission

068983-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R9210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18440561-18448688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18442961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 206 (I206K)

Ref Sequence

ENSEMBL: ENSMUSP00000094750 (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

possibly damaging
Transcript: ENSMUST00000096987
AA Change: I206K

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: I206K

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 damaging
Transcript: ENSMUST00000231244
AA Change: I206K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231335
AA Change: I215K

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000231622

Predicted Effect

probably damaging
Transcript: ENSMUST00000231956
AA Change: I206K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232653
AA Change: I215K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (74/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,287,165 (GRCm39)	D40G	probably damaging	Het
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Acod1	T	C	14: 103,292,526 (GRCm39)	V350A	possibly damaging	Het
Acot2	C	A	12: 84,034,851 (GRCm39)	P59Q	probably damaging	Het
Acyp1	A	T	12: 85,326,820 (GRCm39)	V10E	possibly damaging	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Agbl3	C	T	6: 34,775,177 (GRCm39)	T161I	probably damaging	Het
Ang6	T	C	14: 44,239,407 (GRCm39)	N107S	probably benign	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Arpc5	A	G	1: 152,642,603 (GRCm39)	D43G	probably null	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
Atp7b	T	C	8: 22,487,406 (GRCm39)	D1303G	probably damaging	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Catsper1	T	A	19: 5,391,535 (GRCm39)	V639E	probably benign	Het
Cbr1b	A	C	16: 93,427,127 (GRCm39)	S243R	possibly damaging	Het
Ccdc113	T	C	8: 96,283,874 (GRCm39)	F316S	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Cnn2	A	T	10: 79,828,373 (GRCm39)	M117L	probably benign	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Csgalnact1	T	C	8: 68,914,241 (GRCm39)		probably benign	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnaaf2	G	A	12: 69,244,602 (GRCm39)	A153V	probably damaging	Het
Egfem1	T	G	3: 29,207,743 (GRCm39)	C144W	probably damaging	Het
Ercc6	T	A	14: 32,291,822 (GRCm39)	I1062N	probably benign	Het
Ermap	A	T	4: 119,035,706 (GRCm39)	C427*	probably null	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fbxl14	T	C	6: 119,457,635 (GRCm39)	M272T	probably benign	Het
Grm7	T	A	6: 110,622,869 (GRCm39)	M14K	probably benign	Het
Herc6	A	G	6: 57,639,350 (GRCm39)	Y906C	probably damaging	Het
Hps4	C	A	5: 112,497,227 (GRCm39)	T70N	possibly damaging	Het
Hspg2	A	G	4: 137,289,790 (GRCm39)	H3880R	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Igkv13-84	G	T	6: 68,916,886 (GRCm39)	G61V	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Mtus2	T	A	5: 148,014,124 (GRCm39)	S306T	probably benign	Het
Ncl	G	A	1: 86,280,239 (GRCm39)	P523S	probably benign	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Ntng1	A	T	3: 109,779,633 (GRCm39)	C315S	probably damaging	Het
Nyap2	C	T	1: 81,219,042 (GRCm39)	P355S	probably damaging	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Pck2	G	A	14: 55,779,907 (GRCm39)	R52H	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Pink1	A	G	4: 138,053,278 (GRCm39)	F85L	probably benign	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Prkg2	T	C	5: 99,095,333 (GRCm39)	T613A	probably damaging	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rag1	T	C	2: 101,474,852 (GRCm39)	S97G	probably benign	Het
Rai1	C	T	11: 60,080,217 (GRCm39)	P1427L	probably benign	Het
Rrp15	G	C	1: 186,471,922 (GRCm39)	A95G	probably damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Scoc	T	C	8: 84,162,543 (GRCm39)	K121R	possibly damaging	Het
Sh2d2a	C	A	3: 87,756,655 (GRCm39)	L167I	probably damaging	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Slco4a1	A	T	2: 180,114,271 (GRCm39)	S518C	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Tex15	T	A	8: 34,064,319 (GRCm39)	Y1250N	possibly damaging	Het
Tln1	G	T	4: 43,536,119 (GRCm39)	T2022K	probably damaging	Het
Trpc4	T	A	3: 54,173,741 (GRCm39)	F378L	probably benign	Het
Ush2a	A	T	1: 188,516,866 (GRCm39)	Q3192L	probably null	Het
Usp40	A	T	1: 87,885,035 (GRCm39)	W938R	possibly damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	probably benign	Het
Zmiz2	T	A	11: 6,346,277 (GRCm39)	S71T	possibly damaging	Het

Other mutations in Septin5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Septin5	APN	16	18,443,680 (GRCm39)	missense	probably damaging	1.00
IGL02124:Septin5	APN	16	18,443,579 (GRCm39)	missense	probably damaging	0.98
IGL02211:Septin5	APN	16	18,443,629 (GRCm39)	missense	probably damaging	1.00
IGL02934:Septin5	APN	16	18,448,581 (GRCm39)	missense	probably damaging	0.99
R0518:Septin5	UTSW	16	18,443,647 (GRCm39)	missense	probably benign	0.02
R0521:Septin5	UTSW	16	18,443,647 (GRCm39)	missense	probably benign	0.02
R0627:Septin5	UTSW	16	18,444,115 (GRCm39)	missense	possibly damaging	0.90
R0746:Septin5	UTSW	16	18,441,975 (GRCm39)	missense	probably damaging	1.00
R0891:Septin5	UTSW	16	18,443,595 (GRCm39)	missense	probably damaging	1.00
R1037:Septin5	UTSW	16	18,441,844 (GRCm39)	splice site	probably benign
R1850:Septin5	UTSW	16	18,443,960 (GRCm39)	missense	probably damaging	1.00
R2044:Septin5	UTSW	16	18,441,762 (GRCm39)	missense	probably benign	0.10
R3872:Septin5	UTSW	16	18,441,723 (GRCm39)	missense	probably damaging	0.98
R4498:Septin5	UTSW	16	18,442,142 (GRCm39)	missense	probably damaging	1.00
R5503:Septin5	UTSW	16	18,442,118 (GRCm39)	missense	probably benign	0.00
R5963:Septin5	UTSW	16	18,442,962 (GRCm39)	splice site	probably null
R6286:Septin5	UTSW	16	18,442,127 (GRCm39)	missense	probably damaging	0.99
R7014:Septin5	UTSW	16	18,443,659 (GRCm39)	missense	probably damaging	1.00
R7909:Septin5	UTSW	16	18,443,372 (GRCm39)	missense	probably damaging	1.00
R8708:Septin5	UTSW	16	18,443,622 (GRCm39)	missense	probably benign	0.01
R8888:Septin5	UTSW	16	18,441,861 (GRCm39)	missense	possibly damaging	0.81
R8895:Septin5	UTSW	16	18,441,861 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GTTTGCGTGGCCTCCAATAC -3'
(R):5'- CCAGTGGATGTAGGCTTCATG -3'

Sequencing Primer
(F):5'- GTGGCCTCCAATACTCTGC -3'
(R):5'- AAAGCTGACTGCCTGGTG -3'

Posted On

2022-02-07