Mutagenetix > Incidental Mutation

Incidental Mutation 'R5224:Stx19'

402522

Institutional Source

Beutler Lab

Gene Symbol

Stx19

Ensembl Gene

ENSMUSG00000047854

Gene Name

syntaxin 19

Synonyms

A030009B12Rik

MMRRC Submission

042797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5224 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62635039-62643085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62642937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 251 (M251R)

Ref Sequence

ENSEMBL: ENSMUSP00000055901 (fasta)

Gene Model

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

AlphaFold

Q8R1Q0

Predicted Effect

probably benign
Transcript: ENSMUST00000055557
AA Change: M251R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000055901
Gene: ENSMUSG00000047854
AA Change: M251R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	CGTGACCTTTCTGGT	CGT	10: 85,481,386 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,862,921 (GRCm39)	S699G	probably damaging	Het
Atp10d	C	T	5: 72,426,669 (GRCm39)	A959V	probably benign	Het
Axl	T	C	7: 25,486,369 (GRCm39)	M112V	probably benign	Het
Brd10	A	T	19: 29,696,450 (GRCm39)	S1014R	possibly damaging	Het
Camk1g	A	T	1: 193,037,342 (GRCm39)	D119E	probably damaging	Het
Capn8	A	C	1: 182,424,554 (GRCm39)	N117T	probably damaging	Het
Cct3	G	A	3: 88,204,532 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,752,080 (GRCm39)	T1293A	possibly damaging	Het
Depdc1b	A	G	13: 108,521,354 (GRCm39)	D387G	probably damaging	Het
Dtx3l	A	G	16: 35,759,163 (GRCm39)	Y29H	possibly damaging	Het
Erp44	A	T	4: 48,279,435 (GRCm39)	N2K	probably benign	Het
Fmn1	A	G	2: 113,195,470 (GRCm39)	E390G	unknown	Het
Ganab	T	A	19: 8,887,955 (GRCm39)	D396E	probably benign	Het
Gatd3a	A	G	10: 77,999,367 (GRCm39)	V148A	probably damaging	Het
Gcc2	T	A	10: 58,121,982 (GRCm39)	S1140T	probably damaging	Het
Gm7008	T	C	12: 40,273,342 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,637,361 (GRCm39)	F354I	probably damaging	Het
H2-T7	G	A	17: 36,454,231 (GRCm39)		noncoding transcript	Het
Hnrnpul1	G	A	7: 25,444,600 (GRCm39)	T236M	probably damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Jaml	T	A	9: 45,015,564 (GRCm39)	M356K	probably damaging	Het
Kbtbd12	T	A	6: 88,594,681 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,954 (GRCm39)	N39K	probably damaging	Het
Lrp1b	G	A	2: 41,000,852 (GRCm39)	T2238I	possibly damaging	Het
Lypd8	T	A	11: 58,277,634 (GRCm39)	C139S	possibly damaging	Het
Masp1	G	T	16: 23,313,445 (GRCm39)	H163Q	probably damaging	Het
Mpo	T	C	11: 87,687,283 (GRCm39)		probably benign	Het
Muc19	A	T	15: 91,825,910 (GRCm39)		noncoding transcript	Het
Muc5ac	T	A	7: 141,347,708 (GRCm39)	S438T	probably benign	Het
Nav2	T	C	7: 49,201,473 (GRCm39)	V160A	probably benign	Het
Nlrc5	G	T	8: 95,220,944 (GRCm39)	A1128S	probably benign	Het
Nlrp5	T	A	7: 23,117,401 (GRCm39)	L375Q	probably damaging	Het
Nlrp9a	A	G	7: 26,256,717 (GRCm39)	T112A	probably benign	Het
Nppa	T	C	4: 148,085,773 (GRCm39)	S127P	probably damaging	Het
Or8k24	A	G	2: 86,216,193 (GRCm39)	S190P	possibly damaging	Het
Osbpl1a	T	C	18: 13,066,753 (GRCm39)	N2S	probably benign	Het
Otoa	A	G	7: 120,739,016 (GRCm39)	T742A	probably damaging	Het
Pcdh10	A	G	3: 45,347,249 (GRCm39)	R1015G	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plpp1	T	A	13: 112,988,046 (GRCm39)	Y56*	probably null	Het
Ppp1r12a	A	G	10: 108,096,886 (GRCm39)	T236A	probably benign	Het
Rhag	T	C	17: 41,139,395 (GRCm39)	L110P	probably damaging	Het
Scn11a	T	A	9: 119,583,858 (GRCm39)	N1586Y	probably damaging	Het
Sgms2	T	A	3: 131,135,766 (GRCm39)	K36I	probably damaging	Het
Slc22a2	A	G	17: 12,805,719 (GRCm39)	N157D	probably damaging	Het
Suco	A	G	1: 161,662,274 (GRCm39)	I719T	probably benign	Het
Tnr	A	G	1: 159,750,885 (GRCm39)	D1282G	probably damaging	Het
Tram1	T	C	1: 13,648,349 (GRCm39)	R154G	probably benign	Het
Ubtfl1	G	T	9: 18,321,326 (GRCm39)	V285L	probably benign	Het
Ugt2b38	A	G	5: 87,571,601 (GRCm39)	S144P	probably benign	Het
Washc2	T	G	6: 116,185,965 (GRCm39)	*58G	probably null	Het
Zfp354a	T	A	11: 50,960,876 (GRCm39)	S362R	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
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
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
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'- GTGAATGACATGCTTCACCATGG -3'
(R):5'- ACTCTGAAATGTGGACAGCG -3'

Sequencing Primer
(F):5'- GACATGCTTCACCATGGAAAATG -3'
(R):5'- CTCTGAAATGTGGACAGCGTATCC -3'

Posted On

2016-07-22