Mutagenetix > Incidental Mutation

Incidental Mutation 'R7317:Septin12'

563496

Institutional Source

Beutler Lab

Gene Symbol

Septin12

Ensembl Gene

ENSMUSG00000022542

Gene Name

septin 12

Synonyms

1700028G04Rik, 4933413B09Rik, Septin12, Sept12

MMRRC Submission

045369-MU

Accession Numbers

Essential gene?

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

Stock #

R7317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4804722-4815716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4809599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 238 (K238E)

Ref Sequence

ENSEMBL: ENSMUSP00000131062 (fasta)

Gene Model

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

AlphaFold

A0A2R8VJU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000170323
AA Change: K238E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131062
Gene: ENSMUSG00000022542
AA Change: K238E

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: K238E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230362
AA Change: K238E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,140,202 (GRCm39)	P832L	probably benign	Het
Adamts17	C	T	7: 66,490,304 (GRCm39)	R129*	probably null	Het
Alg5	G	T	3: 54,656,752 (GRCm39)	R321L	probably benign	Het
Amotl1	T	A	9: 14,486,515 (GRCm39)	T460S	probably benign	Het
Ankrd50	T	C	3: 38,537,332 (GRCm39)	E7G	possibly damaging	Het
Ap3b2	T	C	7: 81,110,776 (GRCm39)	T1000A	unknown	Het
Arap2	G	A	5: 62,807,067 (GRCm39)	T1200M	probably damaging	Het
Asb2	A	T	12: 103,299,616 (GRCm39)	I272N	probably damaging	Het
Bicd2	T	C	13: 49,531,784 (GRCm39)	L342P	probably damaging	Het
C1qtnf6	T	A	15: 78,409,206 (GRCm39)	I214F	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,534 (GRCm39)	H587Q	probably benign	Het
Cfap70	T	A	14: 20,450,502 (GRCm39)	I1010F	possibly damaging	Het
Chd1	A	T	17: 15,962,536 (GRCm39)	K764N	possibly damaging	Het
Cluh	A	G	11: 74,556,530 (GRCm39)	D956G	possibly damaging	Het
Ehbp1l1	T	C	19: 5,770,730 (GRCm39)	D243G	probably benign	Het
Ercc4	T	C	16: 12,939,977 (GRCm39)	V169A	probably benign	Het
Erich6	T	C	3: 58,544,305 (GRCm39)	E94G	probably benign	Het
Fubp3	A	G	2: 31,494,624 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,380,305 (GRCm39)	T736I	probably damaging	Het
Garre1	A	G	7: 33,963,072 (GRCm39)	V200A	probably benign	Het
Gm14496	T	A	2: 181,637,613 (GRCm39)	M229K	possibly damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,040,521 (GRCm39)	T596A	probably benign	Het
H1f4	A	G	13: 23,806,350 (GRCm39)	I44T	probably damaging	Het
Htr5b	T	A	1: 121,438,157 (GRCm39)	Y358F	probably damaging	Het
Il18r1	A	T	1: 40,513,992 (GRCm39)	Y66F	possibly damaging	Het
Il18rap	A	G	1: 40,564,536 (GRCm39)	T189A	probably damaging	Het
Irag2	G	A	6: 145,104,424 (GRCm39)	G164R	possibly damaging	Het
Itgav	G	T	2: 83,625,327 (GRCm39)	A771S	probably benign	Het
Klf11	T	C	12: 24,705,518 (GRCm39)	V324A	possibly damaging	Het
Krtap15-1	T	C	16: 88,626,193 (GRCm39)	C87R	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Mbd5	A	G	2: 49,169,755 (GRCm39)	D1642G	probably benign	Het
Med15	G	T	16: 17,489,507 (GRCm39)	Q356K	unknown	Het
Mmp3	A	G	9: 7,446,937 (GRCm39)	Y39C	probably damaging	Het
Mon2	A	G	10: 122,849,851 (GRCm39)	S1149P	probably damaging	Het
Msh3	A	G	13: 92,422,512 (GRCm39)	I548T	probably damaging	Het
Noc2l	T	A	4: 156,323,673 (GRCm39)	V179E	possibly damaging	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or5k3	T	G	16: 58,969,684 (GRCm39)	M157R	possibly damaging	Het
Or5p64	G	T	7: 107,854,425 (GRCm39)	Q307K	probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdhb10	A	T	18: 37,546,079 (GRCm39)	Q385L	possibly damaging	Het
Pdzd2	T	C	15: 12,592,329 (GRCm39)	K105R	probably damaging	Het
Pex1	A	T	5: 3,668,875 (GRCm39)	D582V	probably damaging	Het
Pheta1	A	T	5: 121,991,336 (GRCm39)	T233S	possibly damaging	Het
Pi4ka	A	G	16: 17,223,496 (GRCm39)		probably null	Het
Pigw	T	C	11: 84,768,066 (GRCm39)	N421S	probably benign	Het
Plek	T	C	11: 16,944,739 (GRCm39)	K97R	probably benign	Het
R3hcc1l	C	T	19: 42,571,979 (GRCm39)	R753*	probably null	Het
R3hdml	G	A	2: 163,344,367 (GRCm39)	W252*	probably null	Het
Sgce	G	A	6: 4,691,615 (GRCm39)	T320I	probably benign	Het
Sidt2	A	T	9: 45,854,988 (GRCm39)	C562*	probably null	Het
Skint8	T	C	4: 111,796,717 (GRCm39)	C274R	possibly damaging	Het
Slc13a5	A	T	11: 72,135,953 (GRCm39)	M529K	probably damaging	Het
Smg8	T	G	11: 86,976,391 (GRCm39)	S397R	possibly damaging	Het
Spock3	G	T	8: 63,566,590 (GRCm39)	R68L	possibly damaging	Het
Stau2	T	A	1: 16,530,553 (GRCm39)	H122L	unknown	Het
Tent5a	G	C	9: 85,206,670 (GRCm39)	A376G	possibly damaging	Het
Tert	G	A	13: 73,790,495 (GRCm39)	R858H	probably damaging	Het
Tgm3	G	A	2: 129,890,211 (GRCm39)	R658Q	probably benign	Het
Tmc4	A	G	7: 3,672,918 (GRCm39)	I455T	probably benign	Het
Tmtc4	G	A	14: 123,215,593 (GRCm39)	P18S	probably benign	Het
Tnc	A	G	4: 63,890,959 (GRCm39)	I1641T	probably damaging	Het
Trav14-3	A	T	14: 54,000,951 (GRCm39)	N54I	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc5c	T	A	3: 141,495,703 (GRCm39)	M524K	probably benign	Het
Unc93a	A	G	17: 13,335,171 (GRCm39)	F292L	probably benign	Het
Uso1	A	G	5: 92,321,851 (GRCm39)	N248S	possibly damaging	Het
Usp5	A	G	6: 124,803,281 (GRCm39)	L73P	probably damaging	Het
Utp20	T	A	10: 88,598,797 (GRCm39)	I60F	possibly damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	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
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
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'- TCTATGAGTTGTGTGATAAGAGCCG -3'
(R):5'- AGCCTGACCATTGAAGAACGAG -3'

Sequencing Primer
(F):5'- GTTTGCTGCCCAACTTGAC -3'
(R):5'- CATTGAAGAACGAGATGCCTTC -3'

Posted On

2019-06-26