Mutagenetix > Incidental Mutation

Incidental Mutation 'R0627:Septin5'

57657

Institutional Source

Beutler Lab

Gene Symbol

Septin5

Ensembl Gene

ENSMUSG00000072214

Gene Name

septin 5

Synonyms

Cdcrel1, Pnutl1, Sept5

MMRRC Submission

038816-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R0627 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18440561-18448688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18444115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 44 (D44G)

Ref Sequence

ENSEMBL: ENSMUSP00000094750 (fasta)

Gene Model

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

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: D44G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: D44G

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

possibly damaging
Transcript: ENSMUST00000231244
AA Change: D44G

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231246

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231335
AA Change: D53G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231400

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232653
AA Change: D53G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231956
AA Change: D44G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000231622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232152

Meta Mutation Damage Score

0.2455

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

99% (111/112)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	T	A	15: 89,208,508 (GRCm39)	Y149*	probably null	Het
Ahi1	G	A	10: 20,841,421 (GRCm39)	R236H	probably benign	Het
Armcx4	A	G	X: 133,596,572 (GRCm39)	N2160S	possibly damaging	Het
Asns	A	T	6: 7,675,516 (GRCm39)	D495E	probably benign	Het
Atosb	G	T	4: 43,036,242 (GRCm39)	P163Q	probably damaging	Het
Bcl9	A	G	3: 97,112,789 (GRCm39)	V1222A	probably damaging	Het
Cd46	A	T	1: 194,774,494 (GRCm39)	C14S	probably benign	Het
Cdk11b	T	A	4: 155,725,229 (GRCm39)		probably benign	Het
Cdkl3	T	C	11: 51,902,135 (GRCm39)	Y115H	probably damaging	Het
Cep41	C	A	6: 30,656,630 (GRCm39)	C274F	probably damaging	Het
Ces1a	C	A	8: 93,768,671 (GRCm39)	V108F	probably benign	Het
Clca4b	A	G	3: 144,634,020 (GRCm39)	Y132H	probably benign	Het
Col5a3	T	C	9: 20,686,781 (GRCm39)	E1323G	unknown	Het
Cttnbp2	A	G	6: 18,367,372 (GRCm39)	*1139Q	probably null	Het
Cyp2d9	T	A	15: 82,339,991 (GRCm39)	I127N	probably damaging	Het
Dennd1b	A	G	1: 139,008,957 (GRCm39)	Y220C	probably damaging	Het
Desi2	T	C	1: 178,076,918 (GRCm39)	S141P	possibly damaging	Het
Dgcr2	A	G	16: 17,661,872 (GRCm39)	S453P	probably damaging	Het
Dnah3	A	G	7: 119,620,138 (GRCm39)	L1586P	probably damaging	Het
Dpep3	T	C	8: 106,705,363 (GRCm39)	D129G	possibly damaging	Het
Eci3	C	T	13: 35,132,126 (GRCm39)	V241I	possibly damaging	Het
Ecm2	A	T	13: 49,674,559 (GRCm39)		probably benign	Het
Emilin3	A	G	2: 160,750,096 (GRCm39)	L551P	probably damaging	Het
Erap1	A	C	13: 74,823,933 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,289,519 (GRCm39)	D928G	probably benign	Het
Fancc	C	A	13: 63,465,292 (GRCm39)	A472S	probably damaging	Het
Fkbp7	A	T	2: 76,503,188 (GRCm39)	D57E	probably damaging	Het
Gabbr2	T	A	4: 46,681,223 (GRCm39)	I703F	possibly damaging	Het
Gabrg3	A	T	7: 56,374,343 (GRCm39)	C408S	probably damaging	Het
Gm8674	T	C	13: 50,053,751 (GRCm39)		noncoding transcript	Het
Gnas	G	A	2: 174,139,928 (GRCm39)		probably benign	Het
Grhl3	A	G	4: 135,279,992 (GRCm39)	V354A	probably benign	Het
Gsdme	G	T	6: 50,206,259 (GRCm39)		probably benign	Het
H2-D1	A	G	17: 35,484,898 (GRCm39)	E253G	probably damaging	Het
Habp2	A	G	19: 56,302,478 (GRCm39)	T31A	probably damaging	Het
Ifrd1	A	G	12: 40,256,986 (GRCm39)		probably null	Het
Il20	A	G	1: 130,837,476 (GRCm39)		probably benign	Het
Isx	A	T	8: 75,619,328 (GRCm39)	I160F	possibly damaging	Het
Itgb2l	T	G	16: 96,224,111 (GRCm39)		probably benign	Het
Kcnv1	T	G	15: 44,976,277 (GRCm39)		probably benign	Het
Kif17	T	C	4: 138,015,798 (GRCm39)		probably null	Het
Kirrel3	A	C	9: 34,946,470 (GRCm39)	D743A	probably damaging	Het
Lmod3	T	C	6: 97,225,032 (GRCm39)	D263G	probably damaging	Het
Manf	A	G	9: 106,766,385 (GRCm39)	L132P	probably damaging	Het
Mark2	C	T	19: 7,259,325 (GRCm39)		probably null	Het
Med10	G	A	13: 69,963,720 (GRCm39)	S107N	possibly damaging	Het
Med31	A	G	11: 72,104,601 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,309,987 (GRCm39)	A155S	probably benign	Het
Mprip	T	A	11: 59,660,798 (GRCm39)	L2193Q	probably damaging	Het
Mylk	A	G	16: 34,820,799 (GRCm39)	N126S	probably damaging	Het
Myo16	A	G	8: 10,489,689 (GRCm39)	I715V	probably benign	Het
Myo18b	T	C	5: 112,946,700 (GRCm39)	T1591A	probably benign	Het
Myt1	T	A	2: 181,437,482 (GRCm39)	D64E	probably benign	Het
Ndufa10	A	T	1: 92,397,618 (GRCm39)	Y61N	probably damaging	Het
Nob1	A	G	8: 108,142,856 (GRCm39)	F275S	probably damaging	Het
Nop2	T	C	6: 125,116,667 (GRCm39)	V333A	possibly damaging	Het
Ogdh	T	A	11: 6,297,216 (GRCm39)	V545D	possibly damaging	Het
Or1l4b	T	G	2: 37,036,342 (GRCm39)	N39K	probably damaging	Het
Or4p21	A	G	2: 88,276,563 (GRCm39)	S240P	probably damaging	Het
Or5b107	A	G	19: 13,142,614 (GRCm39)	T79A	probably benign	Het
Or5t16	T	C	2: 86,819,358 (GRCm39)	N54S	probably benign	Het
Or6d13	T	A	6: 116,517,949 (GRCm39)	N178K	possibly damaging	Het
Or6n2	G	T	1: 173,897,643 (GRCm39)	V260F	probably damaging	Het
Or9k2b	A	G	10: 130,016,557 (GRCm39)	F64S	probably damaging	Het
Pcdhb1	T	C	18: 37,398,774 (GRCm39)	F242L	probably damaging	Het
Pkd2l2	A	G	18: 34,558,155 (GRCm39)	Y278C	probably damaging	Het
Plxdc1	T	A	11: 97,823,030 (GRCm39)		probably null	Het
Ppp2r5b	A	G	19: 6,282,664 (GRCm39)		probably benign	Het
Pramel31	C	A	4: 144,089,416 (GRCm39)	L245I	probably benign	Het
Prelid2	T	A	18: 42,070,717 (GRCm39)	T39S	possibly damaging	Het
Prkd1	A	T	12: 50,536,824 (GRCm39)	F87I	probably benign	Het
Prl3d3	C	T	13: 27,340,830 (GRCm39)	T4I	probably damaging	Het
Proser3	T	A	7: 30,240,208 (GRCm39)	T299S	probably benign	Het
Ptprc	G	T	1: 137,996,058 (GRCm39)	H1095N	probably damaging	Het
Rab11fip5	G	T	6: 85,325,033 (GRCm39)	P425T	probably benign	Het
Rac2	T	C	15: 78,449,168 (GRCm39)	T115A	probably damaging	Het
Rtl9	C	A	X: 141,884,271 (GRCm39)	T561K	possibly damaging	Het
Runx2	T	C	17: 44,969,392 (GRCm39)		probably benign	Het
Rxfp1	C	T	3: 79,555,518 (GRCm39)	V613I	probably benign	Het
Scn9a	T	C	2: 66,367,721 (GRCm39)	K656R	probably benign	Het
Sec31b	A	G	19: 44,514,046 (GRCm39)	S406P	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc35c2	T	C	2: 165,124,056 (GRCm39)	T94A	possibly damaging	Het
Slc8a3	T	A	12: 81,361,616 (GRCm39)	D401V	probably damaging	Het
Slitrk1	A	T	14: 109,149,671 (GRCm39)	C347S	probably damaging	Het
Smg1	G	T	7: 117,767,084 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,276,483 (GRCm39)	K610E	probably benign	Het
Spata31e2	A	G	1: 26,724,970 (GRCm39)	M70T	probably benign	Het
Sppl2a	A	G	2: 126,762,337 (GRCm39)		probably benign	Het
Stk-ps2	T	A	1: 46,068,851 (GRCm39)		noncoding transcript	Het
Sult3a1	T	C	10: 33,740,010 (GRCm39)	M23T	probably benign	Het
Syt5	A	G	7: 4,548,682 (GRCm39)	L50P	possibly damaging	Het
Tacr1	A	G	6: 82,532,012 (GRCm39)	I303V	possibly damaging	Het
Trip12	C	A	1: 84,746,318 (GRCm39)	V487F	probably damaging	Het
Vcp	A	G	4: 42,983,011 (GRCm39)	S612P	possibly damaging	Het
Vmn1r47	A	G	6: 89,999,788 (GRCm39)	I307V	probably null	Het
Vmn1r83	T	G	7: 12,055,919 (GRCm39)	D46A	probably damaging	Het
Vmn2r118	G	T	17: 55,917,772 (GRCm39)	Q247K	probably benign	Het
Vmn2r94	C	T	17: 18,477,427 (GRCm39)	C328Y	probably damaging	Het
Vps13b	T	A	15: 35,372,145 (GRCm39)	Y13*	probably null	Het
Vps13d	C	T	4: 144,813,754 (GRCm39)	R3241H	probably damaging	Het
Wdr5b	A	G	16: 35,862,840 (GRCm39)	T320A	probably benign	Het
Zfhx2	A	T	14: 55,302,784 (GRCm39)	D1733E	probably benign	Het
Zfp541	A	G	7: 15,829,607 (GRCm39)		probably benign	Het
Zfp708	A	T	13: 67,218,781 (GRCm39)	Y314*	probably null	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
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
R9210:Septin5	UTSW	16	18,442,961 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGTCTGAATGTATACTCCGGGCCAC -3'
(R):5'- AGCCTCTGCTTACAGAGTCCTCAC -3'

Sequencing Primer
(F):5'- CCTCTGAGGTTTCTCAAGGCAG -3'
(R):5'- GTTGACAAAATGACCCTTGCTAGG -3'

Posted On

2013-07-11