Mutagenetix > Incidental Mutation

Incidental Mutation 'R9154:Septin2'

695194

Institutional Source

Beutler Lab

Gene Symbol

Septin2

Ensembl Gene

ENSMUSG00000026276

Gene Name

septin 2

Synonyms

Nedd5, Sept2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R9154 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93406671-93437455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93429310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 260 (W260R)

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: W260R

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

SMART Domains

Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: W260R

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

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 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

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: ENSMUST00000157021

Predicted Effect

probably damaging
Transcript: ENSMUST00000168776
AA Change: W260R

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

SMART Domains

Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: W260R

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: W220R

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

SMART Domains

Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: W220R

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: W260R

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

SMART Domains

Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: W260R

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,926,926 (GRCm39)	V862A	probably benign	Het
A2m	A	T	6: 121,645,512 (GRCm39)	K1019M	probably damaging	Het
Acot6	G	T	12: 84,147,789 (GRCm39)	W15L	possibly damaging	Het
Adam32	CCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAG	8: 25,438,769 (GRCm39)		probably benign	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap7	T	C	10: 25,047,053 (GRCm39)	Y281C	probably damaging	Het
Ank1	A	G	8: 23,605,387 (GRCm39)	E1085G	probably damaging	Het
Arhgef38	A	T	3: 132,837,924 (GRCm39)	S669T	unknown	Het
Atp8b2	A	T	3: 89,865,927 (GRCm39)	S50R	possibly damaging	Het
Atp8b5	T	C	4: 43,372,630 (GRCm39)	I1090T	probably benign	Het
Ccdc198	A	T	14: 49,473,367 (GRCm39)	H129Q	probably benign	Het
Chrna4	G	A	2: 180,670,602 (GRCm39)	R385C	probably damaging	Het
Col4a1	T	A	8: 11,267,446 (GRCm39)	I1105F	probably damaging	Het
Crybg2	G	A	4: 133,792,620 (GRCm39)	R85Q	probably benign	Het
Cspg4	T	A	9: 56,798,287 (GRCm39)	L1434Q		Het
Cyp3a13	T	C	5: 137,919,758 (GRCm39)	N6S	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
F11r	A	G	1: 171,289,376 (GRCm39)	E233G	probably damaging	Het
Fip1l1	T	C	5: 74,747,703 (GRCm39)	I390T	possibly damaging	Het
Fiz1	G	A	7: 5,011,280 (GRCm39)	R413C	probably damaging	Het
Fus	G	A	7: 127,580,440 (GRCm39)	G450E	unknown	Het
Gm11569	C	A	11: 99,689,267 (GRCm39)	C144F	unknown	Het
Gm7298	A	T	6: 121,756,436 (GRCm39)	Y1027F	probably damaging	Het
Grik5	C	A	7: 24,758,403 (GRCm39)	W340L	probably damaging	Het
H1f2	A	G	13: 23,923,373 (GRCm39)	K181R	unknown	Het
Hectd4	G	A	5: 121,391,967 (GRCm39)	R77H		Het
Ift81	C	A	5: 122,689,122 (GRCm39)	V665L	probably benign	Het
Ints2	A	G	11: 86,125,524 (GRCm39)	F559L	probably damaging	Het
Kdm8	G	A	7: 125,054,296 (GRCm39)	V176I	probably benign	Het
Keap1	A	T	9: 21,142,121 (GRCm39)	Y584*	probably null	Het
Klra1	T	C	6: 130,357,607 (GRCm39)	T7A		Het
Lmo7	T	A	14: 102,122,743 (GRCm39)	W311R	probably damaging	Het
Lrp6	A	G	6: 134,518,855 (GRCm39)	V70A	probably damaging	Het
Luc7l3	A	T	11: 94,190,793 (GRCm39)	S174T	unknown	Het
Madd	T	C	2: 90,998,162 (GRCm39)	T653A	probably damaging	Het
Mlph	G	T	1: 90,855,716 (GRCm39)	G41V	probably damaging	Het
Mov10l1	A	G	15: 88,896,118 (GRCm39)	E654G	possibly damaging	Het
Mpp3	T	C	11: 101,911,328 (GRCm39)	I165V		Het
Mrgpra2a	T	G	7: 47,076,394 (GRCm39)	Y288S	probably damaging	Het
Mroh9	T	A	1: 162,890,030 (GRCm39)	M236L		Het
Muc5b	A	C	7: 141,417,974 (GRCm39)	K3640T	probably damaging	Het
Myh13	A	G	11: 67,253,318 (GRCm39)	I1485V	probably benign	Het
Nf2	A	T	11: 4,744,873 (GRCm39)	F285L	probably damaging	Het
Nfx1	T	A	4: 40,990,845 (GRCm39)	C471S	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Nudt16l1	A	T	16: 4,758,281 (GRCm39)	*212C	probably null	Het
Oaf	T	C	9: 43,133,992 (GRCm39)	Y243C	probably damaging	Het
Or51e1	T	C	7: 102,358,541 (GRCm39)	V25A	probably benign	Het
Or6c3	T	C	10: 129,308,690 (GRCm39)	I43T	probably benign	Het
Or7g30	T	A	9: 19,352,531 (GRCm39)	F107L	probably benign	Het
Or7h8	A	G	9: 20,124,173 (GRCm39)	H176R	possibly damaging	Het
Or8b36	T	A	9: 37,937,690 (GRCm39)	L196*	probably null	Het
Parp9	T	C	16: 35,768,543 (GRCm39)	I241T	probably damaging	Het
Phlpp2	G	T	8: 110,666,590 (GRCm39)	A1040S	possibly damaging	Het
Pon2	A	T	6: 5,265,391 (GRCm39)	V332E	possibly damaging	Het
Ptprc	A	G	1: 138,016,302 (GRCm39)	V544A	probably damaging	Het
Rfx6	A	G	10: 51,597,600 (GRCm39)	S446G	probably benign	Het
Rnf103	T	A	6: 71,487,099 (GRCm39)	C577S	probably benign	Het
Ros1	T	G	10: 51,922,301 (GRCm39)	E2278D	possibly damaging	Het
Rpl37	A	G	15: 5,147,109 (GRCm39)	S50G	probably benign	Het
Rrad	C	T	8: 105,355,343 (GRCm39)	V222M	possibly damaging	Het
Ryr1	T	C	7: 28,769,283 (GRCm39)	T2770A	probably benign	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Slc35c2	A	G	2: 165,122,797 (GRCm39)	M117T	probably benign	Het
Slc44a5	A	G	3: 153,953,373 (GRCm39)	T252A	probably benign	Het
Speer4f2	T	A	5: 17,581,610 (GRCm39)	L184Q		Het
Sphkap	C	G	1: 83,234,982 (GRCm39)	V1615L	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tanc1	T	C	2: 59,630,132 (GRCm39)	L704P	probably damaging	Het
Tas2r126	T	C	6: 42,412,174 (GRCm39)	S236P	probably benign	Het
Tnik	A	G	3: 28,704,235 (GRCm39)	I1020V	probably damaging	Het
Tomm5	T	C	4: 45,106,724 (GRCm39)	Q64R	unknown	Het
Ttll13	A	G	7: 79,897,182 (GRCm39)	E16G	probably benign	Het
Vmn1r21	C	A	6: 57,821,348 (GRCm39)	C32F	probably benign	Het
Vmn2r51	T	A	7: 9,839,480 (GRCm39)	D36V	probably damaging	Het
Vmn2r63	C	T	7: 42,576,413 (GRCm39)	D467N	probably damaging	Het
Vwce	A	G	19: 10,625,850 (GRCm39)	N454S	possibly damaging	Het
Wfdc1	A	C	8: 120,406,116 (GRCm39)	D77A		Het
Yme1l1	T	A	2: 23,077,815 (GRCm39)	I419N	probably damaging	Het
Zfp106	G	A	2: 120,364,812 (GRCm39)	Q555*	probably null	Het
Zfp773	A	C	7: 7,138,302 (GRCm39)	M111R	probably damaging	Het
Zmat3	G	A	3: 32,397,767 (GRCm39)	A165V	possibly damaging	Het

Other mutations in Septin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Septin2	APN	1	93,426,864 (GRCm39)	missense	probably damaging	1.00
IGL01909:Septin2	APN	1	93,426,823 (GRCm39)	missense	probably damaging	1.00
IGL02504:Septin2	APN	1	93,428,203 (GRCm39)	missense	probably benign	0.06
R0136:Septin2	UTSW	1	93,434,772 (GRCm39)	missense	possibly damaging	0.57
R0140:Septin2	UTSW	1	93,429,361 (GRCm39)	missense	probably damaging	1.00
R0335:Septin2	UTSW	1	93,423,321 (GRCm39)	missense	probably damaging	1.00
R0538:Septin2	UTSW	1	93,429,345 (GRCm39)	missense	probably damaging	1.00
R1370:Septin2	UTSW	1	93,426,828 (GRCm39)	missense	probably damaging	1.00
R1463:Septin2	UTSW	1	93,427,037 (GRCm39)	missense	possibly damaging	0.79
R4832:Septin2	UTSW	1	93,426,849 (GRCm39)	missense	probably damaging	0.98
R5443:Septin2	UTSW	1	93,425,174 (GRCm39)	missense	possibly damaging	0.95
R5845:Septin2	UTSW	1	93,426,757 (GRCm39)	splice site	probably null
R5898:Septin2	UTSW	1	93,407,023 (GRCm39)	missense	probably benign
R6122:Septin2	UTSW	1	93,425,098 (GRCm39)	missense	probably damaging	1.00
R6542:Septin2	UTSW	1	93,425,188 (GRCm39)	critical splice donor site	probably null
R7784:Septin2	UTSW	1	93,425,166 (GRCm39)	missense	probably damaging	1.00
R8074:Septin2	UTSW	1	93,433,283 (GRCm39)	missense	probably benign
R8266:Septin2	UTSW	1	93,429,248 (GRCm39)	missense	possibly damaging	0.91
R8277:Septin2	UTSW	1	93,427,030 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- AGCACTCAGTCAGATGTAGTTAAG -3'
(R):5'- CAGTCCCAACTGCAATGGTC -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAGGTCAGC -3'
(R):5'- GCAATGGTCTTCTTAGTCTGCAATAG -3'

Posted On

2022-01-20