Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Septin2'

26143

Institutional Source

Beutler Lab

Gene Symbol

Septin2

Ensembl Gene

ENSMUSG00000026276

Gene Name

septin 2

Synonyms

Nedd5, Sept2

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R0335 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

93406671-93437455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93423321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 51 (S51P)

Ref Sequence

ENSEMBL: ENSMUSP00000136366 (fasta)

Gene Model

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

AlphaFold

P42208

Predicted Effect

probably damaging
Transcript: ENSMUST00000027495
AA Change: S51P

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

SMART Domains

Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: S51P

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: S51P

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

SMART Domains

Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: S51P

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: S51P

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

SMART Domains

Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: S51P

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: S51P

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

SMART Domains

Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: S51P

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: S11P

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

SMART Domains

Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276
AA Change: S11P

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: S81P

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

SMART Domains

Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276
AA Change: S81P

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: S51P

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

SMART Domains

Protein: ENSMUSP00000115536
Gene: ENSMUSG00000026276
AA Change: S51P

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: ENSMUST00000168776
AA Change: S51P

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

SMART Domains

Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: S51P

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: S11P

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

SMART Domains

Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: S11P

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: ENSMUST00000150931
AA Change: S51P

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

SMART Domains

Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: S51P

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: ENSMUST00000179353
AA Change: S51P

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

SMART Domains

Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: S51P

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: ENSMUST00000153826
AA Change: S51P

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

SMART Domains

Protein: ENSMUSP00000114614
Gene: ENSMUSG00000026276
AA Change: S51P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152778

Meta Mutation Damage Score

0.9668

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,311,144 (GRCm39)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,225,259 (GRCm39)	T460A	probably benign	Het
Amer3	A	C	1: 34,618,381 (GRCm39)		probably benign	Het
Arhgap22	C	T	14: 33,081,065 (GRCm39)		probably benign	Het
Arhgap32	T	G	9: 32,171,056 (GRCm39)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,260,601 (GRCm39)	T26M	probably damaging	Het
Begain	A	T	12: 109,004,860 (GRCm39)	F256I	probably damaging	Het
Bltp1	T	C	3: 37,023,301 (GRCm39)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,492,883 (GRCm39)	I1804N	probably damaging	Het
Cad	G	A	5: 31,231,329 (GRCm39)		probably benign	Het
Carmil1	G	A	13: 24,257,966 (GRCm39)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,420,706 (GRCm39)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,635 (GRCm39)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,564,069 (GRCm39)		probably benign	Het
Cmip	T	C	8: 118,172,105 (GRCm39)	I480T	probably damaging	Het
Cnot1	A	T	8: 96,498,628 (GRCm39)	I203K	probably benign	Het
Col18a1	G	A	10: 76,895,197 (GRCm39)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,364,503 (GRCm39)	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,071,860 (GRCm39)	I935F	probably damaging	Het
Dapl1	T	A	2: 59,326,938 (GRCm39)	D61E	possibly damaging	Het
Def6	A	G	17: 28,447,043 (GRCm39)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,046,382 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,891,861 (GRCm39)		probably benign	Het
Ecd	A	C	14: 20,370,802 (GRCm39)	V639G	probably benign	Het
Epg5	C	T	18: 78,029,687 (GRCm39)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,298,418 (GRCm39)	M657I	probably benign	Het
Evi5	T	C	5: 107,960,277 (GRCm39)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,323,041 (GRCm39)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 129,797,979 (GRCm39)	T192A	probably benign	Het
Gas7	C	T	11: 67,552,878 (GRCm39)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm39)	Q41H	probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm7535	A	G	17: 18,131,374 (GRCm39)		probably benign	Het
Gstm1	T	A	3: 107,920,012 (GRCm39)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 79,135,375 (GRCm39)	P252L	probably benign	Het
Hmgb1	A	G	5: 148,987,441 (GRCm39)	V36A	probably benign	Het
Hrh1	G	T	6: 114,457,193 (GRCm39)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,370,294 (GRCm39)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,772,141 (GRCm39)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,895,166 (GRCm39)	N433K	possibly damaging	Het
Kif1a	T	A	1: 92,980,288 (GRCm39)		probably benign	Het
Lctl	C	A	9: 64,026,169 (GRCm39)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,300,608 (GRCm39)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,584,378 (GRCm39)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,259,193 (GRCm39)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,957,574 (GRCm39)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,434,056 (GRCm39)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,400,577 (GRCm39)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,093,561 (GRCm39)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,962,116 (GRCm39)	I567V	probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or11l3	T	C	11: 58,516,566 (GRCm39)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,584,367 (GRCm39)	I308V	probably null	Het
Or5v1b	A	C	17: 37,841,533 (GRCm39)	I222L	probably benign	Het
Or7g16	T	A	9: 18,727,290 (GRCm39)	Q100L	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm39)	E209G	probably benign	Het
Plch1	T	C	3: 63,618,399 (GRCm39)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 29,105,852 (GRCm39)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,596,457 (GRCm39)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,514,046 (GRCm39)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,544,589 (GRCm39)	I314V	probably benign	Het
Rabl2	T	C	15: 89,468,169 (GRCm39)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm39)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,512,435 (GRCm39)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,828,572 (GRCm39)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Serpinb1a	T	C	13: 33,032,639 (GRCm39)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,574,208 (GRCm39)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,515,032 (GRCm39)	R42L	probably damaging	Het
St14	G	A	9: 31,002,620 (GRCm39)		probably benign	Het
Stxbp1	C	T	2: 32,692,917 (GRCm39)		probably benign	Het
Tas2r131	C	T	6: 132,934,792 (GRCm39)	V6I	probably benign	Het
Tdo2	T	A	3: 81,871,307 (GRCm39)	M235L	probably benign	Het
Tenm3	T	G	8: 48,685,140 (GRCm39)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 78,821,630 (GRCm39)		probably benign	Het
Tmx1	A	G	12: 70,500,030 (GRCm39)	N30D	probably benign	Het
Tom1	A	G	8: 75,791,020 (GRCm39)		probably null	Het
Top2a	T	C	11: 98,913,781 (GRCm39)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,540,049 (GRCm39)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm39)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,641 (GRCm39)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,945,317 (GRCm39)		probably null	Het
Vps11	T	C	9: 44,265,135 (GRCm39)	Q641R	probably null	Het
Wapl	T	A	14: 34,414,281 (GRCm39)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,016,601 (GRCm39)	G794E	probably 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
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
R9154:Septin2	UTSW	1	93,429,310 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGAACCCCTGCCAATGGTTTAC -3'
(R):5'- ACCTCAGATGCAGCACACTTTTCC -3'

Sequencing Primer
(F):5'- GCTGTGTCCATGACAGGATCTAC -3'
(R):5'- GCAGCACACTTTTCCTTCTTTTG -3'

Posted On

2013-04-16