Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Sept2'

599419

Institutional Source

Beutler Lab

Gene Symbol

Sept2

Ensembl Gene

ENSMUSG00000026276

Gene Name

septin 2

Synonyms

Nedd5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.919) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93478964-93510260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93497444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 107 (D107E)

Ref Sequence

ENSEMBL: ENSMUSP00000027495 (fasta)

Gene Model

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

AlphaFold

P42208

PDB Structure

Crystal structure of Septin 2 in complex with GppNHp and Mg2+ [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027495
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: D107E

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 damaging
Transcript: ENSMUST00000112912
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: D107E

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 damaging
Transcript: ENSMUST00000129211
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: D107E

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 damaging
Transcript: ENSMUST00000131175
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: D107E

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 damaging
Transcript: ENSMUST00000136182
AA Change: D67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276
AA Change: D67E

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 damaging
Transcript: ENSMUST00000142401
AA Change: D137E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276
AA Change: D137E

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 damaging
Transcript: ENSMUST00000149532
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115536
Gene: ENSMUSG00000026276
AA Change: D107E

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 damaging
Transcript: ENSMUST00000150931
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: D107E

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: ENSMUST00000153826

SMART Domains

Protein: ENSMUSP00000114614
Gene: ENSMUSG00000026276

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168776
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: D107E

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 damaging
Transcript: ENSMUST00000172165
AA Change: D67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: D67E

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

probably damaging
Transcript: ENSMUST00000179353
AA Change: D107E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: D107E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	possibly 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
R5898:Sept2	UTSW	1	93479301	missense	probably benign
R6122:Sept2	UTSW	1	93497376	missense	probably damaging	1.00
R6542:Sept2	UTSW	1	93497466	critical splice donor site	probably null
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
R9154:Sept2	UTSW	1	93501588	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGATATCTCTCCTTCTAGCATGC -3'
(R):5'- GCTGCAGTCTGTATTACAGTGC -3'

Sequencing Primer
(F):5'- GCATGCTGCCTTGATTTTTAAGTAC -3'
(R):5'- ATTCTGAGTTCAAGGCCAGC -3'

Posted On

2019-11-26