Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Septin2'

457622

Institutional Source

Beutler Lab

Gene Symbol

Septin2

Ensembl Gene

ENSMUSG00000026276

Gene Name

septin 2

Synonyms

Nedd5, Sept2

MMRRC Submission

044097-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R5898 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93406671-93437455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 93407023 bp (GRCm39)

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] [ENSMUST00000188165] [ENSMUST00000189025] [ENSMUST00000179353] [ENSMUST00000168776] [ENSMUST00000172165] [ENSMUST00000170883] [ENSMUST00000153826]

AlphaFold

P42208

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

noncoding transcript
Transcript: ENSMUST00000188923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152778

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: 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

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: 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

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: ENSMUST00000153826

SMART Domains

Protein: ENSMUSP00000114614
Gene: ENSMUSG00000026276

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

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: 100,448,762 (GRCm39)	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,451,070 (GRCm39)	M179I	probably benign	Het
Abhd12	T	C	2: 150,681,698 (GRCm39)	I231V	possibly damaging	Het
Adsl	A	G	15: 80,845,554 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,991,131 (GRCm39)	N4138K	possibly damaging	Het
Ahnak	T	C	19: 8,995,575 (GRCm39)	S5620P	probably damaging	Het
Akap13	C	T	7: 75,378,894 (GRCm39)	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,440,694 (GRCm39)	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,557,732 (GRCm39)	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,162,916 (GRCm39)	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,957 (GRCm39)	I48V	probably benign	Het
BC051665	A	C	13: 60,930,518 (GRCm39)	V278G	probably damaging	Het
Bicd1	A	T	6: 149,415,201 (GRCm39)	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,251,192 (GRCm39)	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,094,538 (GRCm39)	R496L	probably benign	Het
Cdcp3	T	G	7: 130,843,696 (GRCm39)		probably null	Het
Cep44	C	G	8: 56,994,056 (GRCm39)	V174L	probably damaging	Het
Clca3a1	G	T	3: 144,722,522 (GRCm39)	F283L	possibly damaging	Het
Csk	T	C	9: 57,537,585 (GRCm39)	T110A	probably benign	Het
Cspg4	T	A	9: 56,792,506 (GRCm39)		probably null	Het
Cutc	A	G	19: 43,748,468 (GRCm39)	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,339,725 (GRCm39)	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,465,951 (GRCm39)	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,046,577 (GRCm39)		probably null	Het
Dcaf15	G	T	8: 84,825,081 (GRCm39)	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,840,125 (GRCm39)	I723K	probably damaging	Het
Dnah17	C	T	11: 118,005,039 (GRCm39)	A782T	probably benign	Het
Dnah3	T	C	7: 119,677,724 (GRCm39)	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717 (GRCm39)	N909S	probably benign	Het
Erbin	A	G	13: 103,975,813 (GRCm39)		probably null	Het
Fanci	G	A	7: 79,083,069 (GRCm39)	V682I	probably benign	Het
Fap	A	T	2: 62,403,847 (GRCm39)	F9L	probably benign	Het
Fat3	T	C	9: 15,849,757 (GRCm39)	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,244,294 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,186,975 (GRCm39)	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,599,468 (GRCm39)		noncoding transcript	Het
Gramd4	G	T	15: 85,984,985 (GRCm39)	G82V	probably damaging	Het
Hc	C	T	2: 34,887,449 (GRCm39)	V1352I	probably benign	Het
Hsph1	A	T	5: 149,548,623 (GRCm39)	N466K	probably damaging	Het
Ice2	T	A	9: 69,315,544 (GRCm39)	D133E	probably benign	Het
Ifi213	T	C	1: 173,396,545 (GRCm39)	M510V	probably benign	Het
Itpkb	T	G	1: 180,248,880 (GRCm39)	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476 (GRCm39)	D283E	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Masp1	T	A	16: 23,310,677 (GRCm39)	I252F	probably damaging	Het
Megf11	G	T	9: 64,593,246 (GRCm39)	C586F	probably damaging	Het
Myh2	C	A	11: 67,083,545 (GRCm39)	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,950,196 (GRCm39)		probably null	Het
Naip6	A	T	13: 100,435,829 (GRCm39)	V898E	possibly damaging	Het
Nav1	T	C	1: 135,512,884 (GRCm39)	M59V	probably benign	Het
Nlrp3	A	T	11: 59,437,678 (GRCm39)	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,600,758 (GRCm39)	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,490,537 (GRCm39)	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,243,335 (GRCm39)	W269R	probably damaging	Het
Peak1	T	A	9: 56,114,622 (GRCm39)	T1440S	probably benign	Het
Piezo1	A	G	8: 123,214,682 (GRCm39)	V1547A	probably benign	Het
Pkp1	T	C	1: 135,810,259 (GRCm39)	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,253,104 (GRCm39)	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,671,887 (GRCm39)		probably benign	Het
Prrg4	C	T	2: 104,675,378 (GRCm39)	S75N	probably benign	Het
Psmb9	T	A	17: 34,401,266 (GRCm39)	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,399,405 (GRCm39)	L23*	probably null	Het
Sbno1	A	T	5: 124,524,854 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,345,039 (GRCm39)	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,652,388 (GRCm39)	D46E	probably benign	Het
Selenov	A	G	7: 27,987,579 (GRCm39)	F293L	probably damaging	Het
Shc1	T	A	3: 89,334,274 (GRCm39)	Y313*	probably null	Het
Siglec1	T	A	2: 130,915,553 (GRCm39)	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,764,559 (GRCm39)	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,365,123 (GRCm39)	N152S	probably damaging	Het
Smoc1	C	T	12: 81,151,531 (GRCm39)	R83*	probably null	Het
Ssx2ip	A	G	3: 146,133,586 (GRCm39)	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,567,372 (GRCm39)	D576G	probably damaging	Het
Tbx20	T	A	9: 24,670,155 (GRCm39)	Y226F	probably damaging	Het
Trav10d	G	T	14: 53,048,929 (GRCm39)	A107S	probably damaging	Het
Trim60	A	T	8: 65,453,016 (GRCm39)	L411*	probably null	Het
Ttbk2	A	T	2: 120,575,521 (GRCm39)	V1083D	probably benign	Het
Unc93a	T	A	17: 13,344,464 (GRCm39)	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819 (GRCm39)	N65I	possibly damaging	Het
Vip	A	T	10: 5,593,988 (GRCm39)	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,534,813 (GRCm39)	I179F	probably damaging	Het
Wdr47	T	A	3: 108,545,201 (GRCm39)		probably null	Het
Zfp975	A	T	7: 42,311,963 (GRCm39)	C217S	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
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
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'- CCTGAGAAAGGGCTAGAGTTCTG -3'
(R):5'- TGTCACTGCCTTAAATTGGGG -3'

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

Posted On

2017-02-15