Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Syt9'

426569

Institutional Source

Beutler Lab

Gene Symbol

Syt9

Ensembl Gene

ENSMUSG00000062542

Gene Name

synaptotagmin IX

Synonyms

Sytv

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106969935-107147863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107024563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000122049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073459] [ENSMUST00000130414] [ENSMUST00000137663]

AlphaFold

Q9R0N9

Predicted Effect

probably benign
Transcript: ENSMUST00000073459
AA Change: V152A

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

SMART Domains

Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: V152A

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
Blast:C2	53	166	7e-54	BLAST
C2	236	339	1.8e-26	SMART
C2	368	482	1.6e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130414
AA Change: V152A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000122049
Gene: ENSMUSG00000062542
AA Change: V152A

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
Blast:C2	53	166	3e-57	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000137663

SMART Domains

Protein: ENSMUSP00000117969
Gene: ENSMUSG00000062542

Domain	Start	End	E-Value	Type
low complexity region	37	48	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit 50% embryonic lethality while cre-mediated removal of a conditional allele impairs inhibitions of postsynaptic currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	probably damaging	Het

Other mutations in Syt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Syt9	APN	7	107,024,574 (GRCm39)	nonsense	probably null
IGL00541:Syt9	APN	7	107,101,387 (GRCm39)	missense	probably null	1.00
IGL01161:Syt9	APN	7	107,024,356 (GRCm39)	missense	probably damaging	0.97
IGL01705:Syt9	APN	7	107,035,559 (GRCm39)	missense	probably damaging	0.96
IGL02567:Syt9	APN	7	107,035,868 (GRCm39)	missense	probably damaging	1.00
IGL03268:Syt9	APN	7	107,035,612 (GRCm39)	missense	probably benign	0.01
R0684:Syt9	UTSW	7	107,024,343 (GRCm39)	missense	probably damaging	1.00
R0743:Syt9	UTSW	7	107,035,768 (GRCm39)	missense	probably damaging	0.97
R0835:Syt9	UTSW	7	107,105,737 (GRCm39)	missense	probably benign	0.30
R0884:Syt9	UTSW	7	107,035,768 (GRCm39)	missense	probably damaging	0.97
R1114:Syt9	UTSW	7	107,024,562 (GRCm39)	missense	possibly damaging	0.93
R1502:Syt9	UTSW	7	107,035,694 (GRCm39)	missense	probably damaging	1.00
R1885:Syt9	UTSW	7	107,035,736 (GRCm39)	missense	probably damaging	1.00
R1962:Syt9	UTSW	7	107,024,314 (GRCm39)	missense	probably damaging	1.00
R2368:Syt9	UTSW	7	107,035,906 (GRCm39)	missense	probably damaging	1.00
R2421:Syt9	UTSW	7	107,035,988 (GRCm39)	missense	probably benign	0.39
R4134:Syt9	UTSW	7	107,035,630 (GRCm39)	missense	probably benign	0.22
R4477:Syt9	UTSW	7	107,024,428 (GRCm39)	missense	probably damaging	1.00
R4602:Syt9	UTSW	7	107,035,594 (GRCm39)	nonsense	probably null
R4685:Syt9	UTSW	7	107,035,678 (GRCm39)	missense	possibly damaging	0.89
R4977:Syt9	UTSW	7	107,103,479 (GRCm39)	missense	probably damaging	1.00
R5141:Syt9	UTSW	7	107,103,426 (GRCm39)	missense	probably damaging	1.00
R5440:Syt9	UTSW	7	107,101,330 (GRCm39)	missense	possibly damaging	0.46
R5633:Syt9	UTSW	7	107,024,503 (GRCm39)	missense	probably damaging	1.00
R5978:Syt9	UTSW	7	107,035,620 (GRCm39)	missense	probably benign	0.02
R6260:Syt9	UTSW	7	107,035,717 (GRCm39)	missense	possibly damaging	0.93
R6733:Syt9	UTSW	7	107,024,503 (GRCm39)	missense	probably damaging	1.00
R6889:Syt9	UTSW	7	107,024,493 (GRCm39)	missense	probably damaging	0.99
R7572:Syt9	UTSW	7	107,035,784 (GRCm39)	missense	probably damaging	1.00
R8080:Syt9	UTSW	7	107,035,997 (GRCm39)	missense	probably benign
X0018:Syt9	UTSW	7	107,105,781 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TGTTCTCTGGTAGCAAAGACAAC -3'
(R):5'- AAACTAAGCTGAGCTCTGGC -3'

Sequencing Primer
(F):5'- TCTGGTAGCAAAGACAACAACCAAG -3'
(R):5'- ACTAAGCTGAGCTCTGGCACTAG -3'

Posted On

2016-09-01