Mutagenetix > Incidental Mutation

Incidental Mutation 'R1429:Stx19'

161459

Institutional Source

Beutler Lab

Gene Symbol

Stx19

Ensembl Gene

ENSMUSG00000047854

Gene Name

syntaxin 19

Synonyms

A030009B12Rik

MMRRC Submission

039485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62635039-62643085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62642960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 259 (V259I)

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: V259I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000055901
Gene: ENSMUSG00000047854
AA Change: V259I

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: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Alg8	C	T	7: 97,039,499 (GRCm39)	A410V	probably benign	Het
Arhgef4	A	G	1: 34,849,420 (GRCm39)	Y481C	probably damaging	Het
Armc8	A	G	9: 99,418,260 (GRCm39)	V56A	possibly damaging	Het
Cactin	T	C	10: 81,159,512 (GRCm39)	I23T	probably damaging	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cfap54	T	C	10: 92,656,900 (GRCm39)	I3051V	probably benign	Het
Cpxm1	A	T	2: 130,238,364 (GRCm39)	I66N	probably damaging	Het
Ddx50	G	A	10: 62,482,847 (GRCm39)	T74I	possibly damaging	Het
Dnah7b	G	T	1: 46,328,816 (GRCm39)	D3183Y	possibly damaging	Het
Dsg1b	A	G	18: 20,523,252 (GRCm39)	D93G	probably damaging	Het
Ess2	G	A	16: 17,720,069 (GRCm39)	R427*	probably null	Het
Fam135a	T	G	1: 24,083,348 (GRCm39)	K292N	probably damaging	Het
Fam83b	G	T	9: 76,399,859 (GRCm39)	R415S	probably benign	Het
Fxyd3	T	A	7: 30,773,046 (GRCm39)	M1L	probably benign	Het
Gm5134	T	A	10: 75,814,215 (GRCm39)	M193K	probably damaging	Het
Golgb1	A	G	16: 36,720,925 (GRCm39)	E427G	possibly damaging	Het
Gpat3	G	A	5: 101,040,953 (GRCm39)	G338S	probably damaging	Het
Hmgxb3	C	T	18: 61,283,505 (GRCm39)	R606Q	probably damaging	Het
Itgb1	T	C	8: 129,444,157 (GRCm39)		probably null	Het
Myh1	C	A	11: 67,108,736 (GRCm39)	T1384K	possibly damaging	Het
Myo3b	A	C	2: 70,083,351 (GRCm39)	Q640P	probably damaging	Het
Naa16	A	G	14: 79,596,967 (GRCm39)	V305A	probably benign	Het
Or5h17	G	A	16: 58,820,501 (GRCm39)	G151D	possibly damaging	Het
Pgap1	T	C	1: 54,534,020 (GRCm39)	D631G	probably benign	Het
Phc2	C	A	4: 128,637,348 (GRCm39)	P51Q	probably damaging	Het
Pmel	G	A	10: 128,554,861 (GRCm39)		probably null	Het
Rassf8	G	T	6: 145,760,916 (GRCm39)	G81W	probably damaging	Het
Rfx2	G	T	17: 57,111,369 (GRCm39)	Q68K	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rsbn1l	A	G	5: 21,125,016 (GRCm39)	L262S	probably damaging	Het
S100a16	A	C	3: 90,449,391 (GRCm39)	Y22S	probably damaging	Het
Tas2r105	T	C	6: 131,663,904 (GRCm39)	I175V	probably benign	Het
Vmn2r67	T	A	7: 84,802,031 (GRCm39)	H90L	possibly damaging	Het
Wscd1	T	A	11: 71,651,000 (GRCm39)	L109Q	probably damaging	Het
Zfp423	T	A	8: 88,413,070 (GRCm39)	Q1154L	probably damaging	Het
Zmym6	T	C	4: 127,017,672 (GRCm39)	L1059P	probably damaging	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
R1762:Stx19	UTSW	16	62,642,343 (GRCm39)	missense	probably damaging	1.00
R4198:Stx19	UTSW	16	62,643,039 (GRCm39)	missense	possibly damaging	0.96
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'- CACATAAACAGGGCACTGGGTGAC -3'
(R):5'- GGACAGCGTATCCCTAAATGCTGAG -3'

Sequencing Primer
(F):5'- AATGGTCCATCATCAGTGGTC -3'
(R):5'- CTTTATTTGGAGCCACAGCG -3'

Posted On

2014-03-14