Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00417:Sept2'

7409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sept2

Ensembl Gene

ENSMUSG00000026276

Gene Name

septin 2

Synonyms

Nedd5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

IGL00417

Quality Score

Status

Chromosome

Chromosomal Location

93478964-93510260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93499142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 158 (H158Y)

Ref Sequence

ENSEMBL: ENSMUSP00000136366 (fasta)

Gene Model

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

AlphaFold

P42208

Predicted Effect

probably damaging
Transcript: ENSMUST00000027495
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: H158Y

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: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: H158Y

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: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: H158Y

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: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: H158Y

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

SMART Domains

Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276

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 damaging
Transcript: ENSMUST00000150931
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: H158Y

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 damaging
Transcript: ENSMUST00000168776
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: H158Y

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: H118Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: H118Y

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: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: H158Y

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,423,759	I39M	probably benign	Het
Acoxl	G	A	2: 127,978,804	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,554,637	R76L	probably damaging	Het
Ank	T	C	15: 27,544,351	M66T	possibly damaging	Het
C6	C	T	15: 4,759,967	A298V	possibly damaging	Het
Clip4	A	T	17: 71,849,942	N591Y	probably damaging	Het
Cntnap5b	T	C	1: 100,050,754	I165T	probably damaging	Het
Dennd1b	G	A	1: 139,062,940	R214H	probably damaging	Het
Eri2	G	A	7: 119,787,741	T185I	probably benign	Het
Fbxo33	A	G	12: 59,202,670	V476A	probably damaging	Het
Fer1l4	G	A	2: 156,019,920	R1826*	probably null	Het
Fyb	A	T	15: 6,580,777	K277I	probably damaging	Het
Gli3	C	A	13: 15,644,299	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,677,278	I2554V	probably benign	Het
Maml2	A	T	9: 13,621,604		probably benign	Het
Map4k4	T	C	1: 40,014,532	F930L	possibly damaging	Het
Mmadhc	T	C	2: 50,289,031	D125G	probably benign	Het
Nipbl	A	G	15: 8,366,673	S139P	probably damaging	Het
Obscn	A	G	11: 59,006,788	L6647P	unknown	Het
Ppara	C	A	15: 85,801,067	H406N	probably benign	Het
Psg27	T	A	7: 18,561,917	H201L	probably benign	Het
Qser1	A	T	2: 104,786,903	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,955,981		probably null	Het
Snx9	C	A	17: 5,891,897	Q100K	probably benign	Het
Spata5	A	G	3: 37,451,802	I677V	possibly damaging	Het
Thnsl2	G	A	6: 71,131,900	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,595,834	R125G	probably damaging	Het
Tmem62	T	G	2: 121,006,964		probably null	Het
Tnpo3	A	T	6: 29,578,461		probably null	Het
Trpc6	A	T	9: 8,680,438	D889V	probably damaging	Het
Tubgcp6	C	A	15: 89,104,008	V913L	probably benign	Het
Uox	A	T	3: 146,627,810	M255L	probably benign	Het

Other mutations in Sept2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
R9154:Sept2	UTSW	1	93501588	missense	probably damaging	1.00

Posted On

2012-04-20