Mutagenetix > Incidental Mutation

Incidental Mutation 'R4198:Stx19'

318654

Institutional Source

Beutler Lab

Gene Symbol

Stx19

Ensembl Gene

ENSMUSG00000047854

Gene Name

syntaxin 19

Synonyms

A030009B12Rik

MMRRC Submission

041640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4198 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62635039-62643085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62643039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 285 (C285F)

Ref Sequence

ENSEMBL: ENSMUSP00000055901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055557] [ENSMUST00000089289] [ENSMUST00000232561]

AlphaFold

Q8R1Q0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055557
AA Change: C285F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055901
Gene: ENSMUSG00000047854
AA Change: C285F

Domain	Start	End	E-Value	Type
Blast:SynN	51	161	4e-18	BLAST
t_SNARE	202	269	3.21e-9	SMART
low complexity region	277	289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089289

SMART Domains

Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911

Domain	Start	End	E-Value	Type
Pfam:Arf	8	190	8.2e-43	PFAM
Pfam:SRPRB	19	157	7.1e-8	PFAM
Pfam:Roc	23	134	5.4e-9	PFAM
Pfam:Ras	23	183	3.1e-10	PFAM
low complexity region	207	233	N/A	INTRINSIC
low complexity region	265	281	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
low complexity region	344	349	N/A	INTRINSIC
low complexity region	366	388	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132902

Predicted Effect

probably benign
Transcript: ENSMUST00000232561

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,124,766 (GRCm39)	M1002I	probably benign	Het
Ap2b1	C	A	11: 83,233,429 (GRCm39)	Q481K	probably damaging	Het
Arhgap31	G	A	16: 38,444,275 (GRCm39)	A194V	probably damaging	Het
Atp10a	A	G	7: 58,463,434 (GRCm39)	D989G	probably damaging	Het
Ccny	G	A	18: 9,332,928 (GRCm39)	T201I	probably damaging	Het
Cdca5	T	C	19: 6,140,382 (GRCm39)	V181A	possibly damaging	Het
Ces1g	A	G	8: 94,032,496 (GRCm39)	I488T	probably benign	Het
Csmd2	A	G	4: 128,404,717 (GRCm39)	T2368A	probably benign	Het
Cux1	T	A	5: 136,315,702 (GRCm39)	I1113F	probably damaging	Het
Dnah3	C	T	7: 119,522,061 (GRCm39)	G4033D	probably damaging	Het
Foxg1	T	A	12: 49,432,082 (GRCm39)	S272T	possibly damaging	Het
Fyco1	T	C	9: 123,655,699 (GRCm39)	N1020D	probably benign	Het
Gprc5c	T	G	11: 114,754,686 (GRCm39)	L121R	probably damaging	Het
Hyou1	G	A	9: 44,300,156 (GRCm39)	R815H	probably damaging	Het
Kera	T	C	10: 97,448,835 (GRCm39)	*352Q	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lnpk	T	C	2: 74,399,453 (GRCm39)	E30G	probably damaging	Het
Map2	C	T	1: 66,464,457 (GRCm39)	R128C	probably damaging	Het
Or1i2	A	T	10: 78,447,901 (GRCm39)	D191E	possibly damaging	Het
Or1o2	T	A	17: 37,543,025 (GRCm39)	M79L	probably benign	Het
Or2y11	G	A	11: 49,443,461 (GRCm39)	V296M	possibly damaging	Het
Or51h7	A	G	7: 102,591,004 (GRCm39)	F260S	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Ror2	A	G	13: 53,264,680 (GRCm39)	M792T	probably benign	Het
Serpinb9d	A	G	13: 33,386,948 (GRCm39)	I339V	probably benign	Het
Serpinb9d	A	G	13: 33,386,657 (GRCm39)		probably null	Het
Slc1a1	A	G	19: 28,878,852 (GRCm39)	K197R	probably benign	Het
Snx20	A	G	8: 89,354,226 (GRCm39)	V168A	possibly damaging	Het
Sowaha	T	C	11: 53,369,395 (GRCm39)	E447G	possibly damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 98,110,114 (GRCm39)		probably benign	Het
Syp	A	G	X: 7,506,166 (GRCm39)		probably null	Het
Tbkbp1	C	T	11: 97,039,894 (GRCm39)		probably null	Het
Trim29	G	T	9: 43,222,677 (GRCm39)	E169*	probably null	Het
Ttll12	T	C	15: 83,461,214 (GRCm39)	N602D	probably damaging	Het
Zfp26	T	C	9: 20,348,012 (GRCm39)	T851A	probably benign	Het
Zfp316	T	C	5: 143,240,226 (GRCm39)	M598V	probably benign	Het
Zhx2	A	G	15: 57,685,125 (GRCm39)	I165V	probably benign	Het

Other mutations in Stx19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00709:Stx19	APN	16	62,642,943 (GRCm39)	missense	probably benign	0.08
PIT4520001:Stx19	UTSW	16	62,642,871 (GRCm39)	missense	probably benign	0.09
R0696:Stx19	UTSW	16	62,642,406 (GRCm39)	missense	probably benign	0.22
R1429:Stx19	UTSW	16	62,642,960 (GRCm39)	missense	possibly damaging	0.75
R1762:Stx19	UTSW	16	62,642,343 (GRCm39)	missense	probably damaging	1.00
R4720:Stx19	UTSW	16	62,642,682 (GRCm39)	missense	probably damaging	1.00
R4726:Stx19	UTSW	16	62,642,495 (GRCm39)	missense	probably benign	0.23
R4745:Stx19	UTSW	16	62,642,783 (GRCm39)	missense	probably benign	0.00
R5224:Stx19	UTSW	16	62,642,937 (GRCm39)	missense	probably benign	0.05
R5297:Stx19	UTSW	16	62,642,337 (GRCm39)	missense	probably damaging	1.00
R6416:Stx19	UTSW	16	62,642,420 (GRCm39)	missense	probably damaging	1.00
R7768:Stx19	UTSW	16	62,642,567 (GRCm39)	missense	probably benign	0.36
R7783:Stx19	UTSW	16	62,642,649 (GRCm39)	missense	probably benign
R8096:Stx19	UTSW	16	62,642,524 (GRCm39)	missense	possibly damaging	0.85
R8786:Stx19	UTSW	16	62,642,775 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCAAGTGAAGGACCTCCG -3'
(R):5'- CTTGTGTCACTGGCTTCAGC -3'

Sequencing Primer
(F):5'- CGGGACCTTTTCATTCAGATATC -3'
(R):5'- CACTGGCTTCAGCAGTTTCTGTAATG -3'

Posted On

2015-06-10