Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Septin5'

669404

Institutional Source

Beutler Lab

Gene Symbol

Septin5

Ensembl Gene

ENSMUSG00000072214

Gene Name

septin 5

Synonyms

Cdcrel1, Pnutl1, Sept5

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

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

Stock #

R8708 (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 18443622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 100 (V100A)

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

probably benign
Transcript: ENSMUST00000096987
AA Change: V100A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: V100A

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: V100A

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000231335
AA Change: V109A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000231622
AA Change: V53A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231956
AA Change: V100A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000232653
AA Change: V109A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,400 (GRCm39)	K230R	probably damaging	Het
Ajm1	C	A	2: 25,467,814 (GRCm39)	R699L	possibly damaging	Het
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Alg11	T	C	8: 22,555,129 (GRCm39)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,394,756 (GRCm39)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,727,344 (GRCm39)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,573,169 (GRCm39)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,343,238 (GRCm39)	T507A	probably benign	Het
Arid1a	A	T	4: 133,409,145 (GRCm39)	D1787E	unknown	Het
Atad2b	T	A	12: 5,011,253 (GRCm39)	D504E	probably damaging	Het
Atg2b	T	A	12: 105,635,687 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,964,139 (GRCm39)	S1685I	probably damaging	Het
Bptf	T	A	11: 106,964,140 (GRCm39)	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,604,416 (GRCm39)	I1437N		Het
Capn1	T	C	19: 6,061,328 (GRCm39)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,805,891 (GRCm39)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,863,095 (GRCm39)	M9I	probably benign	Het
Celf1	T	A	2: 90,840,925 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,425,823 (GRCm39)	N1285K	probably benign	Het
Col24a1	C	T	3: 145,251,020 (GRCm39)	T1673I	probably damaging	Het
Dbp	A	G	7: 45,359,225 (GRCm39)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,036,049 (GRCm39)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,694,704 (GRCm39)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,661,266 (GRCm39)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,343,487 (GRCm39)	Y1610*	probably null	Het
Dock5	A	G	14: 68,004,820 (GRCm39)	V1529A	probably benign	Het
Egfr	G	T	11: 16,817,300 (GRCm39)		probably benign	Het
Exph5	T	A	9: 53,287,096 (GRCm39)	H1392Q	probably benign	Het
Fam78b	A	G	1: 166,906,332 (GRCm39)	K164E	possibly damaging	Het
Fignl2	C	A	15: 100,950,734 (GRCm39)	R516L	unknown	Het
Fndc7	C	T	3: 108,774,528 (GRCm39)	E577K	probably benign	Het
Fryl	T	C	5: 73,289,905 (GRCm39)	E107G	probably benign	Het
Gbp10	A	T	5: 105,368,831 (GRCm39)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,737,723 (GRCm39)	C156S		Het
Golga3	C	A	5: 110,350,721 (GRCm39)	A752E	probably benign	Het
Gper1	G	T	5: 139,411,690 (GRCm39)	V12L	probably benign	Het
Hmbox1	G	T	14: 65,061,089 (GRCm39)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,705,955 (GRCm39)	I77L	probably benign	Het
Ing4	A	T	6: 125,024,895 (GRCm39)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm39)		probably null	Het
Itpa	T	A	2: 130,517,639 (GRCm39)	V129E	probably damaging	Het
Itpripl1	T	A	2: 126,983,262 (GRCm39)	M287L	probably benign	Het
Klc3	T	C	7: 19,129,784 (GRCm39)	I362V	probably damaging	Het
Ky	T	A	9: 102,402,590 (GRCm39)		probably benign	Het
Lasp1	A	G	11: 97,697,709 (GRCm39)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,300,763 (GRCm39)	M380T	probably benign	Het
Lrp2	T	A	2: 69,289,957 (GRCm39)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 71,070,459 (GRCm39)	L80P	probably damaging	Het
Mcoln3	A	T	3: 145,846,276 (GRCm39)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm39)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,159,751 (GRCm39)	I1267V	probably benign	Het
Mei4	C	A	9: 81,809,595 (GRCm39)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm39)	V809M	probably benign	Het
Mmp17	G	A	5: 129,672,486 (GRCm39)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,218 (GRCm39)	Q36*	probably null	Het
Myo3a	T	A	2: 22,296,607 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,883,943 (GRCm39)	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,322,564 (GRCm39)	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,068,603 (GRCm39)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,874,758 (GRCm39)		probably null	Het
Or1af1	T	A	2: 37,109,956 (GRCm39)	S152T	probably damaging	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or5b124	T	C	19: 13,611,401 (GRCm39)	S309P	probably benign	Het
Or6c5	T	A	10: 129,074,678 (GRCm39)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,634,063 (GRCm39)	D107G	probably benign	Het
Pde2a	A	G	7: 101,159,588 (GRCm39)	D816G	probably damaging	Het
Phf10	T	A	17: 15,176,261 (GRCm39)	T131S	possibly damaging	Het
Phf11	A	T	14: 59,482,262 (GRCm39)	C164S	probably damaging	Het
Phrf1	A	G	7: 140,812,446 (GRCm39)	D70G	unknown	Het
Piezo2	A	G	18: 63,226,086 (GRCm39)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,596,473 (GRCm39)		probably benign	Het
Plekhh2	A	T	17: 84,882,421 (GRCm39)	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196 (GRCm39)	V804G	probably damaging	Het
Ppt2	T	C	17: 34,844,613 (GRCm39)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,618,066 (GRCm39)	H398R	unknown	Het
Rab26	A	T	17: 24,748,772 (GRCm39)	M208K	probably damaging	Het
Rab31	A	C	17: 65,974,859 (GRCm39)		probably benign	Het
Radil	A	G	5: 142,471,204 (GRCm39)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,960,780 (GRCm39)	I65T	probably damaging	Het
Sall1	A	T	8: 89,759,483 (GRCm39)	V207E	probably damaging	Het
Sart3	A	T	5: 113,882,728 (GRCm39)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,457 (GRCm39)	S277T	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Ski	A	T	4: 155,245,119 (GRCm39)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,673,715 (GRCm39)	D566E	probably benign	Het
Srgap2	G	A	1: 131,273,544 (GRCm39)	Q372*	probably null	Het
Stard9	A	G	2: 120,534,059 (GRCm39)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,345,998 (GRCm39)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,570,191 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,732,632 (GRCm39)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,531,151 (GRCm39)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,696,964 (GRCm39)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,776,108 (GRCm39)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,682,687 (GRCm39)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 85,812,476 (GRCm39)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,689,489 (GRCm39)	V3016L		Het
Wdr11	A	G	7: 129,200,780 (GRCm39)	N77S	probably benign	Het
Wdr17	C	A	8: 55,093,127 (GRCm39)		probably benign	Het
Wrn	T	A	8: 33,782,671 (GRCm39)	N753I	probably damaging	Het
Zan	A	G	5: 137,461,539 (GRCm39)		probably null	Het
Zfat	T	A	15: 67,956,278 (GRCm39)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,312,509 (GRCm39)	S62A	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
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'- ACTCTCATCACGGAAATACTGC -3'
(R):5'- AGTGGCCCGGAGTATACATTC -3'

Sequencing Primer
(F):5'- AACTGCTGGTCCACATAGTCAGTG -3'
(R):5'- GCCCGGAGTATACATTCAGACAG -3'

Posted On

2021-04-30