Mutagenetix > Incidental Mutation

Incidental Mutation 'R1404:Stx12'

188652

Institutional Source

Beutler Lab

Gene Symbol

Stx12

Ensembl Gene

ENSMUSG00000028879

Gene Name

syntaxin 12

Synonyms

syntaxin 13, Stx13

MMRRC Submission

039466-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R1404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132581375-132611769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132598960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 43 (I43L)

Ref Sequence

ENSEMBL: ENSMUSP00000030698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030698]

AlphaFold

Q9ER00

Predicted Effect

probably benign
Transcript: ENSMUST00000030698
AA Change: I43L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879
AA Change: I43L

Domain	Start	End	E-Value	Type
SynN	14	129	2.7e-32	SMART
t_SNARE	173	240	4.07e-20	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
Actl6a	T	C	3: 32,776,759 (GRCm39)		probably benign	Het
Aoc1l1	A	T	6: 48,952,767 (GRCm39)	T231S	probably benign	Het
Aox1	T	C	1: 58,385,371 (GRCm39)		probably benign	Het
Arrdc3	A	G	13: 81,031,973 (GRCm39)	T69A	probably damaging	Het
Bbs2	T	C	8: 94,808,627 (GRCm39)	K360R	probably null	Het
Cdh8	A	T	8: 100,006,250 (GRCm39)	N112K	probably damaging	Het
Ces5a	A	T	8: 94,228,809 (GRCm39)	F474I	probably damaging	Het
Dync1i1	G	A	6: 5,915,876 (GRCm39)	D253N	probably damaging	Het
Fam151b	T	C	13: 92,610,480 (GRCm39)	D103G	probably damaging	Het
Fam227b	A	G	2: 125,845,759 (GRCm39)	L410P	probably damaging	Het
Ihh	A	T	1: 74,990,372 (GRCm39)	M1K	probably null	Het
Itga6	A	G	2: 71,669,060 (GRCm39)	T617A	probably benign	Het
Itpr1	T	A	6: 108,363,609 (GRCm39)	C744S	probably benign	Het
Kif5a	T	C	10: 127,081,311 (GRCm39)	I208V	probably benign	Het
Lama4	A	G	10: 38,937,387 (GRCm39)	K659R	probably benign	Het
Lpin3	T	A	2: 160,734,310 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,270,309 (GRCm39)	E6612V	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Ncdn	T	C	4: 126,643,833 (GRCm39)	K330E	probably benign	Het
Neb	C	T	2: 52,073,287 (GRCm39)	D1975N	possibly damaging	Het
Nell1	T	A	7: 50,503,621 (GRCm39)	N675K	possibly damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,504,026 (GRCm39)		probably benign	Het
Or4f47	G	A	2: 111,972,968 (GRCm39)	R226H	probably benign	Het
Rnf43	A	G	11: 87,625,003 (GRCm39)	E737G	possibly damaging	Het
Sardh	C	A	2: 27,129,473 (GRCm39)	W275L	probably damaging	Het
Sel1l2	C	T	2: 140,071,979 (GRCm39)		probably benign	Het
Sipa1l2	G	A	8: 126,176,712 (GRCm39)	H1185Y	probably damaging	Het
Skp2	G	A	15: 9,117,012 (GRCm39)	Q298*	probably null	Het
Spag16	G	A	1: 69,934,439 (GRCm39)		probably benign	Het
Spink14	A	G	18: 44,161,896 (GRCm39)		probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tmc1	T	A	19: 20,793,548 (GRCm39)	I538F	possibly damaging	Het
Tollip	T	C	7: 141,438,292 (GRCm39)	M209V	probably benign	Het
Ttn	A	T	2: 76,643,312 (GRCm39)	S13202R	probably damaging	Het
Vmn2r60	T	A	7: 41,786,211 (GRCm39)	V338D	probably damaging	Het
Vwa8	T	C	14: 79,263,471 (GRCm39)	L767P	probably damaging	Het
Zfp202	C	T	9: 40,122,792 (GRCm39)	T518I	probably damaging	Het

Other mutations in Stx12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Stx12	APN	4	132,590,576 (GRCm39)	missense	probably benign	0.06
IGL01484:Stx12	APN	4	132,611,673 (GRCm39)	missense	probably damaging	0.99
IGL03073:Stx12	APN	4	132,585,760 (GRCm39)	missense	probably benign	0.00
IGL03090:Stx12	APN	4	132,590,540 (GRCm39)	missense	probably benign
R0433:Stx12	UTSW	4	132,585,741 (GRCm39)	missense	probably damaging	1.00
R0725:Stx12	UTSW	4	132,584,701 (GRCm39)	splice site	probably benign
R1404:Stx12	UTSW	4	132,598,960 (GRCm39)	missense	probably benign
R1417:Stx12	UTSW	4	132,587,853 (GRCm39)	critical splice donor site	probably null
R1711:Stx12	UTSW	4	132,585,788 (GRCm39)	missense	probably damaging	1.00
R2100:Stx12	UTSW	4	132,587,913 (GRCm39)	missense	possibly damaging	0.93
R3085:Stx12	UTSW	4	132,584,672 (GRCm39)	missense	probably damaging	1.00
R7272:Stx12	UTSW	4	132,584,687 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CACGCAGGGTTATACTGACACAGC -3'
(R):5'- CTTGCAAAAGCACTGTGGAGGAATG -3'

Sequencing Primer
(F):5'- GTTATACTGACACAGCTCCCTGAG -3'
(R):5'- CACTGTGGAGGAATGTGTTTGTAAAG -3'

Posted On

2014-05-09