Mutagenetix > Incidental Mutations

Incidental Mutation 'R5898:Sept2'

457622

Institutional Source

Beutler Lab

Gene Symbol

Sept2

Ensembl Gene

ENSMUSG00000026276

Gene Name

septin 2

Synonyms

Nedd5

MMRRC Submission

044097-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.913) question?

Stock #

R5898 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93478964-93510260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 93479301 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 20 (D20A)

Ref Sequence

ENSEMBL: ENSMUSP00000121974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027495] [ENSMUST00000112912] [ENSMUST00000129211] [ENSMUST00000131175] [ENSMUST00000136182] [ENSMUST00000142401] [ENSMUST00000149532] [ENSMUST00000150931] [ENSMUST00000153826] [ENSMUST00000168776] [ENSMUST00000170883] [ENSMUST00000172165] [ENSMUST00000188165] [ENSMUST00000189025] [ENSMUST00000179353]

Predicted Effect

probably benign
Transcript: ENSMUST00000027495

SMART Domains

Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	313	1.1e-129	PFAM
Pfam:MMR_HSR1	39	242	3.2e-8	PFAM
low complexity region	330	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112912

SMART Domains

Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	221	4.8e-87	PFAM
Pfam:AIG1	38	130	1.1e-6	PFAM
Pfam:MMR_HSR1	39	213	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129211

SMART Domains

Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	213	4.9e-85	PFAM
Pfam:AIG1	38	131	9.9e-7	PFAM
Pfam:MMR_HSR1	39	211	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131175

SMART Domains

Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	212	6.5e-85	PFAM
Pfam:AIG1	38	131	9.8e-7	PFAM
Pfam:MMR_HSR1	39	211	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136182

SMART Domains

Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:AIG1	1	96	1.4e-6	PFAM
Pfam:MMR_HSR1	1	103	1.3e-8	PFAM
Pfam:Septin	1	107	6.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142401
AA Change: D20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276
AA Change: D20A

Domain	Start	End	E-Value	Type
Pfam:Septin	64	177	4.9e-49	PFAM
Pfam:AIG1	68	159	2.3e-7	PFAM
Pfam:MMR_HSR1	69	172	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149532

SMART Domains

Protein: ENSMUSP00000115536
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	120	7e-35	PFAM
Pfam:GTP_EFTU	37	110	9.5e-6	PFAM
Pfam:AIG1	38	120	3.4e-7	PFAM
Pfam:Ras	39	115	1.2e-5	PFAM
Pfam:MMR_HSR1	39	118	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150931

SMART Domains

Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	221	4.8e-87	PFAM
Pfam:AIG1	38	130	1.1e-6	PFAM
Pfam:MMR_HSR1	39	213	1.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152778

Predicted Effect

probably benign
Transcript: ENSMUST00000153826

SMART Domains

Protein: ENSMUSP00000114614
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	77	4.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168776

SMART Domains

Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048

Domain	Start	End	E-Value	Type
Pfam:Septin	34	313	1.4e-129	PFAM
Pfam:MMR_HSR1	39	240	1.2e-8	PFAM
low complexity region	330	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170883

SMART Domains

Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088

Domain	Start	End	E-Value	Type
KH	149	217	1.97e-15	SMART
KH	221	289	1.8e-9	SMART
KH	294	362	1.73e-11	SMART
KH	363	429	2.66e-12	SMART
KH	434	502	9.18e-16	SMART
KH	506	575	7.52e-12	SMART
KH	580	648	7.68e-18	SMART
KH	652	721	3.24e-16	SMART
KH	726	795	1.33e-12	SMART
KH	799	868	2.48e-12	SMART
KH	872	972	3.03e-16	SMART
KH	973	1039	4.56e-11	SMART
KH	1051	1122	3.67e-15	SMART
KH	1126	1195	3.37e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172165

SMART Domains

Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	1	203	5.8e-8	PFAM
Pfam:Septin	1	273	1.5e-125	PFAM
coiled coil region	277	308	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188844

Predicted Effect

probably benign
Transcript: ENSMUST00000188165

Predicted Effect

probably benign
Transcript: ENSMUST00000189025

SMART Domains

Protein: ENSMUSP00000140399
Gene: ENSMUSG00000034088

Domain	Start	End	E-Value	Type
Blast:KH	74	130	2e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000179353

SMART Domains

Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048

Domain	Start	End	E-Value	Type
Pfam:Septin	34	313	1.1e-129	PFAM
Pfam:MMR_HSR1	39	242	3.2e-8	PFAM
low complexity region	330	348	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,612,900	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,615,208	M179I	probably benign	Het
5430419D17Rik	T	G	7: 131,241,967		probably null	Het
Abhd12	T	C	2: 150,839,778	I231V	possibly damaging	Het
Adsl	A	G	15: 80,961,353		probably null	Het
Ahnak	C	A	19: 9,013,767	N4138K	possibly damaging	Het
Ahnak	T	C	19: 9,018,211	S5620P	probably damaging	Het
Akap13	C	T	7: 75,729,146	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,307,623	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,580,773	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,186,272	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,958	I48V	probably benign	Het
BC051665	A	C	13: 60,782,704	V278G	probably damaging	Het
Bicd1	A	T	6: 149,513,703	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,274,231	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,144,538	R496L	probably benign	Het
Cep44	C	G	8: 56,541,021	V174L	probably damaging	Het
Clca1	G	T	3: 145,016,761	F283L	possibly damaging	Het
Csk	T	C	9: 57,630,302	T110A	probably benign	Het
Cspg4	T	A	9: 56,885,222		probably null	Het
Cutc	A	G	19: 43,760,029	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,455,524	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,577,714	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,204,657		probably null	Het
Dcaf15	G	T	8: 84,098,452	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,602,668	I723K	probably damaging	Het
Dnah17	C	T	11: 118,114,213	A782T	probably benign	Het
Dnah3	T	C	7: 120,078,501	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717	N909S	probably benign	Het
Erbin	A	G	13: 103,839,305		probably null	Het
Fanci	G	A	7: 79,433,321	V682I	probably benign	Het
Fap	A	T	2: 62,573,503	F9L	probably benign	Het
Fat3	T	C	9: 15,938,461	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,326,057		probably null	Het
Fsd2	T	C	7: 81,537,227	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,950,261		noncoding transcript	Het
Gramd4	G	T	15: 86,100,784	G82V	probably damaging	Het
Hc	C	T	2: 34,997,437	V1352I	probably benign	Het
Hsph1	A	T	5: 149,625,158	N466K	probably damaging	Het
Ice2	T	A	9: 69,408,262	D133E	probably benign	Het
Ifi213	T	C	1: 173,568,979	M510V	probably benign	Het
Itpkb	T	G	1: 180,421,315	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476	D283E	probably damaging	Het
Man2a1	A	G	17: 64,625,380	K154R	probably benign	Het
Masp1	T	A	16: 23,491,927	I252F	probably damaging	Het
Megf11	G	T	9: 64,685,964	C586F	probably damaging	Het
Myh2	C	A	11: 67,192,719	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,802,330		probably null	Het
Naip6	A	T	13: 100,299,321	V898E	possibly damaging	Het
Nav1	T	C	1: 135,585,146	M59V	probably benign	Het
Nlrp3	A	T	11: 59,546,852	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,363,301	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,357,484	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,422,965	W269R	probably damaging	Het
Peak1	T	A	9: 56,207,338	T1440S	probably benign	Het
Piezo1	A	G	8: 122,487,943	V1547A	probably benign	Het
Pkp1	T	C	1: 135,882,521	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,422,760	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,744,162		probably benign	Het
Prrg4	C	T	2: 104,845,033	S75N	probably benign	Het
Psmb9	T	A	17: 34,182,292	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,161,965	L23*	probably null	Het
Sbno1	A	T	5: 124,386,791		probably benign	Het
Scn3a	T	C	2: 65,514,695	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,824,822	D46E	probably benign	Het
Selenov	A	G	7: 28,288,154	F293L	probably damaging	Het
Shc1	T	A	3: 89,426,967	Y313*	probably null	Het
Siglec1	T	A	2: 131,073,633	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,873,733	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,544,760	N152S	probably damaging	Het
Smoc1	C	T	12: 81,104,757	R83*	probably null	Het
Ssx2ip	A	G	3: 146,427,831	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,617,372	D576G	probably damaging	Het
Tbx20	T	A	9: 24,758,859	Y226F	probably damaging	Het
Trav10d	G	T	14: 52,811,472	A107S	probably damaging	Het
Trim60	A	T	8: 65,000,364	L411*	probably null	Het
Ttbk2	A	T	2: 120,745,040	V1083D	probably benign	Het
Unc93a	T	A	17: 13,125,577	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819	N65I	possibly damaging	Het
Vip	A	T	10: 5,643,988	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,314,551	I179F	probably damaging	Het
Wdr47	T	A	3: 108,637,885		probably null	Het
Zfp975	A	T	7: 42,662,539	C217S	probably damaging	Het

Other mutations in Sept2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Sept2	APN	1	93499142	missense	probably damaging	1.00
IGL01909:Sept2	APN	1	93499101	missense	probably damaging	1.00
IGL02504:Sept2	APN	1	93500481	missense	probably benign	0.06
R0136:Sept2	UTSW	1	93507050	missense	possibly damaging	0.57
R0140:Sept2	UTSW	1	93501639	missense	probably damaging	1.00
R0335:Sept2	UTSW	1	93495599	missense	probably damaging	1.00
R0538:Sept2	UTSW	1	93501623	missense	probably damaging	1.00
R1370:Sept2	UTSW	1	93499106	missense	probably damaging	1.00
R1463:Sept2	UTSW	1	93499315	missense	possibly damaging	0.79
R4832:Sept2	UTSW	1	93499127	missense	probably damaging	0.98
R5443:Sept2	UTSW	1	93497452	missense	possibly damaging	0.95
R5845:Sept2	UTSW	1	93499035	splice site	probably null
R6122:Sept2	UTSW	1	93497376	missense	probably damaging	1.00
R6542:Sept2	UTSW	1	93497466	critical splice donor site	probably null
R7784:Sept2	UTSW	1	93497444	missense	probably damaging	1.00
R8074:Sept2	UTSW	1	93505561	missense	probably benign
R8266:Sept2	UTSW	1	93501526	missense	possibly damaging	0.91
R8277:Sept2	UTSW	1	93499308	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CCTGAGAAAGGGCTAGAGTTCTG -3'
(R):5'- TGTCACTGCCTTAAATTGGGG -3'

Sequencing Primer
(F):5'- GCTAGAGTTCTGCCCTCGC -3'
(R):5'- GGAACTTCATTAACATCCCAGGGTG -3'

Posted On

2017-02-15