Mutagenetix > Incidental Mutation

Incidental Mutation 'R8888:Septin5'

677519

Institutional Source

Beutler Lab

Gene Symbol

Septin5

Ensembl Gene

ENSMUSG00000072214

Gene Name

septin 5

Synonyms

Cdcrel1, Pnutl1, Sept5

MMRRC Submission

068692-MU

Accession Numbers

Essential gene?

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

Stock #

R8888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18440561-18448688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18441861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 315 (M315T)

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: M315T

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: M315T

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

possibly damaging
Transcript: ENSMUST00000231335
AA Change: M324T

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000231622

Predicted Effect

probably benign
Transcript: ENSMUST00000231956
AA Change: M327T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232653
AA Change: M324T

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Ankrd12	T	C	17: 66,338,568 (GRCm39)		probably null	Het
Atp8b5	A	G	4: 43,304,687 (GRCm39)	N66S		Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,835,533 (GRCm39)	S24N	probably null	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Capn12	T	A	7: 28,585,949 (GRCm39)		probably benign	Het
Cdh1	T	A	8: 107,330,971 (GRCm39)	F34Y	probably damaging	Het
Cdh5	T	C	8: 104,852,092 (GRCm39)	I69T	possibly damaging	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Clasp2	T	A	9: 113,732,936 (GRCm39)	M924K	possibly damaging	Het
Col3a1	G	A	1: 45,379,139 (GRCm39)	A850T	unknown	Het
Cped1	C	T	6: 22,016,962 (GRCm39)	P104S	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dmtn	T	C	14: 70,850,144 (GRCm39)	T267A	probably benign	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dop1a	A	G	9: 86,403,587 (GRCm39)	I132V	probably benign	Het
Dpysl5	C	T	5: 30,902,687 (GRCm39)	R40C	probably benign	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Epg5	C	A	18: 78,056,086 (GRCm39)	D1753E	possibly damaging	Het
Ext1	T	C	15: 52,955,723 (GRCm39)	Y458C	probably damaging	Het
Folr2	C	T	7: 101,489,408 (GRCm39)	V244M	unknown	Het
Frmd6	C	A	12: 70,940,646 (GRCm39)	H430Q	possibly damaging	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Htr2a	C	T	14: 74,882,617 (GRCm39)	T201I	possibly damaging	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Nek5	C	T	8: 22,580,495 (GRCm39)		probably null	Het
Nlrc5	G	A	8: 95,252,118 (GRCm39)	V1880I	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or4f62	G	A	2: 111,986,974 (GRCm39)	R226H	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Pccb	A	T	9: 100,905,305 (GRCm39)		probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Pik3c2g	A	T	6: 139,676,092 (GRCm39)	K79*	probably null	Het
Pou3f1	C	G	4: 124,552,152 (GRCm39)	A218G	possibly damaging	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spdye4a	T	G	5: 143,211,418 (GRCm39)	S49R	probably benign	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Syt14	A	G	1: 192,579,866 (GRCm39)	S473P	probably damaging	Het
Tpx2	T	C	2: 152,724,255 (GRCm39)	Y344H	probably damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Usp2	G	T	9: 43,986,894 (GRCm39)	R64L	probably benign	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
R8895:Septin5	UTSW	16	18,441,861 (GRCm39)	missense	possibly damaging	0.81
R9210:Septin5	UTSW	16	18,442,961 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACCCTGTTCACAATCTCGGC -3'
(R):5'- CCGTTATTGGCAGCAACAC -3'

Sequencing Primer
(F):5'- CATCCTGATGAGCTTCTCGG -3'
(R):5'- AACACTGTGGTGGAGGCC -3'

Posted On

2021-08-02