Mutagenetix > Incidental Mutation

Incidental Mutation 'R4673:Septin12'

348647

Institutional Source

Beutler Lab

Gene Symbol

Septin12

Ensembl Gene

ENSMUSG00000022542

Gene Name

septin 12

Synonyms

1700028G04Rik, 4933413B09Rik, Septin12, Sept12

MMRRC Submission

041928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4804722-4815716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4809807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 198 (T198A)

Ref Sequence

ENSEMBL: ENSMUSP00000154901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170323] [ENSMUST00000229321] [ENSMUST00000230362]

AlphaFold

A0A2R8VJU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000170323
AA Change: T198A

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

SMART Domains

Protein: ENSMUSP00000131062
Gene: ENSMUSG00000022542
AA Change: T198A

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
Pfam:Septin	44	277	1.4e-85	PFAM
Pfam:MMR_HSR1	49	248	3.3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229321
AA Change: T198A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230362
AA Change: T198A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230878

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Chimeric male mice are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	C	8: 25,374,471 (GRCm39)	E507G	probably damaging	Het
Adam39	C	T	8: 41,277,768 (GRCm39)	T53I	probably benign	Het
Adam4	A	T	12: 81,468,535 (GRCm39)	S29T	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Alas1	G	T	9: 106,113,676 (GRCm39)	P523Q	probably damaging	Het
Aldh3a1	A	G	11: 61,104,320 (GRCm39)	D69G	probably benign	Het
Arhgap29	T	A	3: 121,808,620 (GRCm39)	V1266E	probably damaging	Het
Bcdin3d	T	C	15: 99,368,719 (GRCm39)	D160G	probably damaging	Het
Btaf1	T	A	19: 36,955,772 (GRCm39)	F569I	probably benign	Het
Cacna1b	A	G	2: 24,521,956 (GRCm39)	L1718S	probably damaging	Het
Casd1	A	G	6: 4,629,975 (GRCm39)	Y457C	probably damaging	Het
Creb3	T	C	4: 43,563,192 (GRCm39)	V97A	probably benign	Het
Cux2	G	T	5: 122,025,539 (GRCm39)	S43*	probably null	Het
Fhip1a	A	T	3: 85,638,020 (GRCm39)	V93D	probably damaging	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gm11565	A	G	11: 99,806,040 (GRCm39)	D144G	probably benign	Het
Gpn3	A	G	5: 122,511,981 (GRCm39)	Y19C	probably damaging	Het
Gstz1	A	T	12: 87,208,837 (GRCm39)	T148S	probably benign	Het
Gtf3c5	A	G	2: 28,462,236 (GRCm39)	I282T	probably benign	Het
Hspa2	T	A	12: 76,452,514 (GRCm39)	S403T	possibly damaging	Het
Il27	G	A	7: 126,190,251 (GRCm39)	T121I	possibly damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Kctd1	T	A	18: 15,196,284 (GRCm39)		probably benign	Het
Kynu	A	G	2: 43,569,815 (GRCm39)	T366A	probably damaging	Het
Lama5	G	A	2: 179,841,059 (GRCm39)	T507I	probably damaging	Het
Myh11	C	T	16: 14,087,105 (GRCm39)	V124M	probably damaging	Het
Myh14	T	A	7: 44,273,754 (GRCm39)	H1331L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myh4	T	C	11: 67,137,227 (GRCm39)	F483L	probably benign	Het
Nbeal1	A	C	1: 60,368,549 (GRCm39)	K2631N	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Ogg1	T	C	6: 113,304,268 (GRCm39)	C28R	probably damaging	Het
Or13c7c	T	C	4: 43,836,430 (GRCm39)	H20R	probably benign	Het
Or5b24	G	A	19: 12,912,461 (GRCm39)	A120T	probably damaging	Het
Or5k17	C	T	16: 58,746,053 (GRCm39)	V294I	possibly damaging	Het
Or6e1	C	T	14: 54,519,789 (GRCm39)	A188T	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phf14	A	G	6: 11,992,056 (GRCm39)	H744R	probably damaging	Het
Pibf1	A	G	14: 99,370,787 (GRCm39)	N263S	possibly damaging	Het
Plcb4	A	G	2: 135,774,191 (GRCm39)	T158A	possibly damaging	Het
Plce1	T	C	19: 38,737,840 (GRCm39)	S1615P	possibly damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rgs22	T	A	15: 36,100,079 (GRCm39)	Y212F	probably benign	Het
Rnd3	G	A	2: 51,022,553 (GRCm39)	A163V	probably benign	Het
Rnf10	A	T	5: 115,389,148 (GRCm39)	V315E	probably damaging	Het
Robo2	C	T	16: 73,701,266 (GRCm39)		probably null	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Scaf8	T	A	17: 3,248,260 (GRCm39)	D1194E	probably benign	Het
Shisa2	A	G	14: 59,867,629 (GRCm39)	T294A	probably damaging	Het
Spta1	A	G	1: 174,018,628 (GRCm39)		probably null	Het
Strbp	A	T	2: 37,535,691 (GRCm39)	S6T	probably damaging	Het
Syf2	A	G	4: 134,661,804 (GRCm39)	E56G	probably damaging	Het
Thap4	T	C	1: 93,642,588 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,887,580 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,514 (GRCm39)	E619G	probably damaging	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Tspan3	G	A	9: 56,043,980 (GRCm39)	R240W	probably damaging	Het
Tut7	G	T	13: 59,944,659 (GRCm39)	T658K	probably damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucp1	T	C	8: 84,021,876 (GRCm39)	V236A	probably damaging	Het
Usp34	TCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCAC	11: 23,314,480 (GRCm39)		probably benign	Het
Zfp940	T	C	7: 29,544,863 (GRCm39)	D348G	probably benign	Het
Zpld2	G	A	4: 133,927,658 (GRCm39)	A365V	probably benign	Het

Other mutations in Septin12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1521:Septin12	UTSW	16	4,814,340 (GRCm39)	missense	probably damaging	1.00
R1542:Septin12	UTSW	16	4,810,159 (GRCm39)	missense	probably benign	0.02
R1618:Septin12	UTSW	16	4,814,340 (GRCm39)	missense	probably damaging	1.00
R1690:Septin12	UTSW	16	4,806,378 (GRCm39)	missense	probably damaging	1.00
R1912:Septin12	UTSW	16	4,806,417 (GRCm39)	missense	probably damaging	1.00
R2131:Septin12	UTSW	16	4,809,643 (GRCm39)	missense	probably damaging	1.00
R2138:Septin12	UTSW	16	4,810,070 (GRCm39)	missense	probably damaging	1.00
R5020:Septin12	UTSW	16	4,811,620 (GRCm39)	missense	probably damaging	1.00
R5328:Septin12	UTSW	16	4,811,857 (GRCm39)	missense	possibly damaging	0.96
R6063:Septin12	UTSW	16	4,810,127 (GRCm39)	missense	probably damaging	1.00
R7104:Septin12	UTSW	16	4,809,857 (GRCm39)	missense	probably damaging	1.00
R7142:Septin12	UTSW	16	4,806,226 (GRCm39)	missense	unknown
R7317:Septin12	UTSW	16	4,809,599 (GRCm39)	missense	probably damaging	0.98
R7382:Septin12	UTSW	16	4,806,346 (GRCm39)	missense	probably damaging	1.00
R7560:Septin12	UTSW	16	4,810,055 (GRCm39)	missense	possibly damaging	0.91
R7631:Septin12	UTSW	16	4,814,320 (GRCm39)	missense	probably damaging	0.97
R8540:Septin12	UTSW	16	4,805,481 (GRCm39)	missense	probably damaging	0.99
R9347:Septin12	UTSW	16	4,805,481 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCTCGTCGAAACACTTCTG -3'
(R):5'- GTGTGTACTTTGTGCCACCC -3'

Sequencing Primer
(F):5'- GTGGGTACACATCGATGCAGTG -3'
(R):5'- ACTGGTGAGGTGACCCAC -3'

Posted On

2015-10-08