Mutagenetix > Incidental Mutation

Incidental Mutation 'R5020:Septin12'

389167

Institutional Source

Beutler Lab

Gene Symbol

Septin12

Ensembl Gene

ENSMUSG00000022542

Gene Name

septin 12

Synonyms

1700028G04Rik, 4933413B09Rik, Septin12, Sept12

MMRRC Submission

042611-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4804722-4815716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4811620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 116 (D116G)

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: D116G

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

SMART Domains

Protein: ENSMUSP00000131062
Gene: ENSMUSG00000022542
AA Change: D116G

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: D116G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230362
AA Change: D116G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230878

Meta Mutation Damage Score

0.8715

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (72/73)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	T	7: 131,042,929 (GRCm39)		probably null	Het
Actl6a	A	G	3: 32,774,656 (GRCm39)	I340V	possibly damaging	Het
Alppl2	C	T	1: 87,017,431 (GRCm39)	V19I	probably benign	Het
Ankrd34c	T	C	9: 89,611,759 (GRCm39)	K194R	probably benign	Het
Anpep	T	A	7: 79,483,475 (GRCm39)	M672L	probably benign	Het
Arhgap31	T	C	16: 38,423,438 (GRCm39)	D876G	probably damaging	Het
Arid2	T	A	15: 96,269,869 (GRCm39)	N1327K	probably damaging	Het
Atp5f1d	C	A	10: 79,981,263 (GRCm39)	P101Q	probably benign	Het
Bcl7b	G	A	5: 135,200,017 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,483,901 (GRCm39)	S2907C	probably damaging	Het
Ccser2	T	C	14: 36,662,134 (GRCm39)	E350G	probably benign	Het
Cdh23	G	T	10: 60,143,811 (GRCm39)	D2929E	probably damaging	Het
Clec2i	T	A	6: 128,870,621 (GRCm39)	V78E	probably benign	Het
Cpxm1	A	T	2: 130,237,897 (GRCm39)		probably null	Het
Crybg3	C	T	16: 59,375,159 (GRCm39)	V2032I	possibly damaging	Het
Eif5b	A	T	1: 38,058,150 (GRCm39)	K151*	probably null	Het
Gemin7	T	A	7: 19,299,348 (GRCm39)	E82D	possibly damaging	Het
Gm14496	A	G	2: 181,633,152 (GRCm39)	E45G	possibly damaging	Het
Gm21915	T	C	9: 40,581,966 (GRCm39)	S20P	probably damaging	Het
Gm8126	A	C	14: 43,119,026 (GRCm39)	E165A	probably damaging	Het
Grin2b	T	C	6: 135,710,405 (GRCm39)	D1047G	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ikbke	T	A	1: 131,201,397 (GRCm39)	Y150F	probably damaging	Het
Inhca	T	C	9: 103,159,701 (GRCm39)	D70G	probably benign	Het
Itih5	T	A	2: 10,245,315 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,365,217 (GRCm39)	Q645R	possibly damaging	Het
Map4	A	G	9: 109,897,868 (GRCm39)	M712V	probably benign	Het
Mecom	A	G	3: 30,015,255 (GRCm39)	S823P	probably damaging	Het
Mettl25	A	G	10: 105,662,068 (GRCm39)	Y301H	possibly damaging	Het
Mga	A	T	2: 119,781,654 (GRCm39)	K2136*	probably null	Het
Mmp24	A	G	2: 155,652,204 (GRCm39)	E304G	probably benign	Het
Mmp3	T	A	9: 7,445,984 (GRCm39)	D29E	probably benign	Het
Nbas	T	A	12: 13,424,713 (GRCm39)	I984N	probably damaging	Het
Nedd9	A	G	13: 41,469,270 (GRCm39)	Y628H	probably damaging	Het
Nlrp2	C	T	7: 5,331,076 (GRCm39)	C440Y	probably damaging	Het
Or4g16	T	C	2: 111,136,637 (GRCm39)	V29A	probably benign	Het
Or6p1	T	G	1: 174,258,237 (GRCm39)	L81R	probably damaging	Het
P4ha2	T	C	11: 54,022,016 (GRCm39)	V513A	probably damaging	Het
Pcsk4	T	C	10: 80,161,869 (GRCm39)	N124S	probably benign	Het
Phf12	T	C	11: 77,914,622 (GRCm39)	F139S	probably damaging	Het
Phlpp2	T	A	8: 110,666,714 (GRCm39)	L1081H	probably damaging	Het
Phospho2	T	A	2: 69,626,323 (GRCm39)	F160I	probably damaging	Het
Plch2	T	G	4: 155,091,540 (GRCm39)	D115A	probably damaging	Het
Plekho1	A	G	3: 95,896,851 (GRCm39)	F215S	probably damaging	Het
Psma4	C	A	9: 54,860,056 (GRCm39)	A47E	probably damaging	Het
Rasa4	A	C	5: 136,130,153 (GRCm39)	Q303P	probably damaging	Het
Rbmxl2	C	T	7: 106,809,414 (GRCm39)	P233L	probably damaging	Het
Reln	A	T	5: 22,239,636 (GRCm39)	L877H	probably damaging	Het
Rtel1	A	G	2: 180,964,307 (GRCm39)		probably null	Het
Son	T	A	16: 91,453,263 (GRCm39)	V670E	probably damaging	Het
Spag9	T	A	11: 93,988,612 (GRCm39)	I544N	probably benign	Het
Spsb3	T	G	17: 25,106,036 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,652 (GRCm39)	F164L	possibly damaging	Het
Tgfbr3	T	C	5: 107,362,836 (GRCm39)	T59A	probably damaging	Het
Tsc1	T	A	2: 28,566,531 (GRCm39)	I649K	probably damaging	Het
Txndc9	T	C	1: 38,034,793 (GRCm39)	D37G	probably benign	Het
Uba7	C	T	9: 107,856,113 (GRCm39)	A496V	probably benign	Het
Usf3	T	A	16: 44,035,889 (GRCm39)	I123N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,955 (GRCm39)	S234T	possibly damaging	Het
Vsig10l	C	A	7: 43,114,741 (GRCm39)	S314*	probably null	Het
Wdfy4	A	G	14: 32,801,892 (GRCm39)	F1922S	probably damaging	Het
Zfp219	C	T	14: 52,247,112 (GRCm39)	R5H	probably damaging	Het
Zfp946	G	T	17: 22,674,584 (GRCm39)	C446F	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
R4673:Septin12	UTSW	16	4,809,807 (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'- AAGCACCAACTCTGTACTAGCTAG -3'
(R):5'- CAAAGTATGGCAGTCAACTGAAC -3'

Sequencing Primer
(F):5'- CTGTACTAGCTAGATTGCTGAGACC -3'
(R):5'- ACCTGGATGTACCCATGCC -3'

Posted On

2016-06-06