Mutagenetix > Incidental Mutation

Incidental Mutation 'R2138:Septin12'

236001

Institutional Source

Beutler Lab

Gene Symbol

Septin12

Ensembl Gene

ENSMUSG00000022542

Gene Name

septin 12

Synonyms

1700028G04Rik, 4933413B09Rik, Septin12, Sept12

MMRRC Submission

040141-MU

Accession Numbers

Essential gene?

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

Stock #

R2138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4804722-4815716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4810070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 155 (R155H)

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: R155H

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

SMART Domains

Protein: ENSMUSP00000131062
Gene: ENSMUSG00000022542
AA Change: R155H

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: R155H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230362
AA Change: R155H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230878

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,122 (GRCm39)	V6A	probably benign	Het
Abcc6	A	G	7: 45,630,475 (GRCm39)	F1262L	probably damaging	Het
Acot13	A	T	13: 25,002,188 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,593,439 (GRCm39)	I4183V	probably benign	Het
Aff4	T	G	11: 53,263,339 (GRCm39)	S120A	possibly damaging	Het
Afp	A	G	5: 90,647,506 (GRCm39)	E250G	probably damaging	Het
Ankrd34b	A	T	13: 92,575,914 (GRCm39)	D382V	probably damaging	Het
Arhgef19	A	T	4: 140,978,111 (GRCm39)	I577F	probably damaging	Het
Arl6	A	G	16: 59,442,830 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,773,268 (GRCm39)	M333K	probably benign	Het
Atp8b3	C	A	10: 80,362,939 (GRCm39)	A635S	possibly damaging	Het
Baiap2	A	G	11: 119,847,928 (GRCm39)	T19A	possibly damaging	Het
Bcar3	A	G	3: 122,306,645 (GRCm39)	D206G	probably damaging	Het
Ccdc162	A	T	10: 41,457,293 (GRCm39)	M85K	probably benign	Het
Clec4a4	A	G	6: 123,000,937 (GRCm39)	N217D	probably damaging	Het
Csmd1	T	C	8: 15,979,088 (GRCm39)	Y2832C	probably damaging	Het
Cubn	A	G	2: 13,449,189 (GRCm39)	I962T	probably damaging	Het
Dennd4a	A	G	9: 64,796,619 (GRCm39)	Y852C	probably damaging	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dusp12	G	A	1: 170,708,166 (GRCm39)	Q114*	probably null	Het
Elfn2	G	T	15: 78,558,238 (GRCm39)	T103K	probably benign	Het
Eme1	A	T	11: 94,539,018 (GRCm39)	V314E	probably damaging	Het
Epb41l3	A	G	17: 69,514,875 (GRCm39)	E4G	probably damaging	Het
Exoc6b	A	T	6: 84,966,464 (GRCm39)	L170Q	probably damaging	Het
Fbln5	C	T	12: 101,728,179 (GRCm39)	M261I	probably benign	Het
Fgf22	T	C	10: 79,592,435 (GRCm39)	V64A	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,259,420 (GRCm39)	S401R	probably damaging	Het
Gen1	A	T	12: 11,291,622 (GRCm39)	S722R	probably damaging	Het
Gm10754	A	T	10: 97,518,132 (GRCm39)		probably benign	Het
Grid2	G	A	6: 64,322,782 (GRCm39)	R594Q	probably damaging	Het
Grm7	C	A	6: 110,623,098 (GRCm39)	N90K	probably damaging	Het
Herc1	G	A	9: 66,377,589 (GRCm39)	V3452M	possibly damaging	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Klra3	A	T	6: 130,310,121 (GRCm39)	V133D	probably benign	Het
Lims2	A	G	18: 32,088,460 (GRCm39)	E220G	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mbl1	T	A	14: 40,875,648 (GRCm39)	I34K	possibly damaging	Het
Mgam	C	T	6: 40,733,384 (GRCm39)	P839S	probably damaging	Het
Mmp9	G	T	2: 164,794,387 (GRCm39)	E460*	probably null	Het
Mov10	T	C	3: 104,711,558 (GRCm39)	H316R	probably benign	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Myo15b	T	C	11: 115,774,633 (GRCm39)	S2082P	probably benign	Het
Myrfl	G	A	10: 116,631,443 (GRCm39)	T706I	probably benign	Het
Nampt	C	A	12: 32,888,421 (GRCm39)	H191N	possibly damaging	Het
Niban1	G	A	1: 151,572,002 (GRCm39)	V316M	probably damaging	Het
Nphp3	A	G	9: 103,903,102 (GRCm39)	E693G	possibly damaging	Het
Obscn	A	T	11: 58,894,491 (GRCm39)	Y1191*	probably null	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or1r1	A	T	11: 73,875,129 (GRCm39)	Y102N	probably damaging	Het
Or7a40	A	G	16: 16,491,069 (GRCm39)	Y259H	probably damaging	Het
Osbpl10	A	G	9: 115,061,202 (GRCm39)	N760S	probably benign	Het
Otof	A	G	5: 30,619,114 (GRCm39)	V10A	probably benign	Het
Pkhd1l1	A	C	15: 44,364,853 (GRCm39)	E664A	probably damaging	Het
Pnp2	T	C	14: 51,201,161 (GRCm39)	S178P	probably damaging	Het
Pvr	G	A	7: 19,650,927 (GRCm39)	T199I	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnaseh2b	T	C	14: 62,598,794 (GRCm39)	V173A	probably benign	Het
Slco6d1	G	T	1: 98,371,385 (GRCm39)	R290L	probably benign	Het
Snx32	A	G	19: 5,546,157 (GRCm39)	V335A	probably damaging	Het
Son	T	C	16: 91,456,260 (GRCm39)	V1669A	possibly damaging	Het
Speer1f	A	T	5: 11,469,052 (GRCm39)	R68*	probably null	Het
Tbata	C	T	10: 61,015,063 (GRCm39)	T116I	probably benign	Het
Tdrd1	T	A	19: 56,831,021 (GRCm39)	S279T	probably benign	Het
Thsd7a	A	T	6: 12,471,072 (GRCm39)	Y515*	probably null	Het
Tmem102	T	G	11: 69,695,940 (GRCm39)	L40F	probably damaging	Het
Tmem169	A	G	1: 72,340,155 (GRCm39)	N195S	probably damaging	Het
Tmem201	A	T	4: 149,802,537 (GRCm39)	S613T	probably damaging	Het
Tnfaip6	A	T	2: 51,942,344 (GRCm39)	I218F	possibly damaging	Het
Tube1	C	A	10: 39,023,347 (GRCm39)	H331Q	probably benign	Het
Wwc1	G	A	11: 35,732,714 (GRCm39)	T998I	possibly damaging	Het
Xpc	A	T	6: 91,475,104 (GRCm39)	Y638*	probably null	Het
Zdhhc4	A	T	5: 143,310,017 (GRCm39)	Y80*	probably null	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
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
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'- ACATTCACAGTCCGGCACAG -3'
(R):5'- TGTAGATAGACCACCAGAGGC -3'

Sequencing Primer
(F):5'- CCTCAGGAACTCAATGTCTAGGG -3'
(R):5'- CCACCAGAGGCCAGGAGATG -3'

Posted On

2014-10-01