Mutagenetix > Incidental Mutation

Incidental Mutation 'R1385:Insyn1'

163221

Institutional Source

Beutler Lab

Gene Symbol

Insyn1

Ensembl Gene

ENSMUSG00000066607

Gene Name

inhibitory synaptic factor 1

Synonyms

6030419C18Rik

MMRRC Submission

039447-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R1385 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

58395886-58407063 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AGAGGAGGAGGAGGAGG to AGAGGAGGAGGAGG at 58406715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085658] [ENSMUST00000216294]

AlphaFold

Q8CD60

Predicted Effect

probably benign
Transcript: ENSMUST00000085658

SMART Domains

Protein: ENSMUSP00000082800
Gene: ENSMUSG00000066607

Domain	Start	End	E-Value	Type
Pfam:DUF4589	52	279	2e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216294

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh7a1	A	G	18: 56,675,357 (GRCm39)	S269P	probably damaging	Het
Arf3	A	G	15: 98,640,494 (GRCm39)	V43A	probably damaging	Het
Arhgap1	C	A	2: 91,501,176 (GRCm39)	N457K	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bltp3b	A	G	10: 89,626,503 (GRCm39)	N399S	possibly damaging	Het
Ccdc39	C	T	3: 33,875,561 (GRCm39)	E544K	probably damaging	Het
Cfap44	A	G	16: 44,291,138 (GRCm39)	E1546G	probably damaging	Het
Cntn6	A	G	6: 104,838,861 (GRCm39)	I900V	probably benign	Het
Edem1	A	G	6: 108,823,645 (GRCm39)	N347S	probably damaging	Het
Erich6	A	G	3: 58,544,251 (GRCm39)	I112T	probably benign	Het
Gemin2	A	G	12: 59,064,932 (GRCm39)		probably null	Het
Hunk	T	A	16: 90,269,374 (GRCm39)	V306E	possibly damaging	Het
Hydin	A	G	8: 111,249,836 (GRCm39)	I2260V	probably benign	Het
Itgbl1	A	G	14: 123,898,923 (GRCm39)		probably null	Het
Iws1	T	A	18: 32,223,483 (GRCm39)	N630K	probably benign	Het
Lama2	C	A	10: 27,100,039 (GRCm39)	R822L	probably benign	Het
Lrrc56	A	G	7: 140,785,438 (GRCm39)	D130G	probably damaging	Het
Mageb11	T	A	X: 89,935,874 (GRCm39)	C43S	probably benign	Het
Malrd1	A	T	2: 16,047,039 (GRCm39)	I1722F	unknown	Het
Mark4	G	T	7: 19,159,952 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,874 (GRCm39)	V2940A	probably benign	Het
Mxd1	T	A	6: 86,628,549 (GRCm39)	Q62L	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Nr2c2	T	G	6: 92,131,451 (GRCm39)	F171C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nynrin	A	T	14: 56,102,356 (GRCm39)	Q675L	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Ocstamp	T	C	2: 165,237,959 (GRCm39)	D435G	probably benign	Het
Pdzd2	T	C	15: 12,411,108 (GRCm39)	T553A	probably benign	Het
Pllp	A	G	8: 95,405,996 (GRCm39)	Y96H	probably benign	Het
Polg2	A	G	11: 106,659,149 (GRCm39)	S455P	probably damaging	Het
Ppp1r9b	A	G	11: 94,883,037 (GRCm39)	T222A	probably benign	Het
Prkcd	G	A	14: 30,329,362 (GRCm39)	T26I	probably damaging	Het
Prkcq	A	G	2: 11,261,097 (GRCm39)	H383R	probably damaging	Het
Prune2	A	G	19: 17,102,312 (GRCm39)	I2490M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Scn9a	G	A	2: 66,393,886 (GRCm39)	P229L	probably damaging	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sphk2	A	G	7: 45,361,715 (GRCm39)	I82T	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Treml1	T	G	17: 48,667,226 (GRCm39)	V37G	probably damaging	Het
Trim33	A	G	3: 103,218,266 (GRCm39)	K272E	possibly damaging	Het
Trpv6	T	C	6: 41,598,063 (GRCm39)	D748G	probably benign	Het
Ubr4	A	G	4: 139,129,923 (GRCm39)	H681R	probably benign	Het
Vmn2r82	A	T	10: 79,232,325 (GRCm39)	R775*	probably null	Het
Xpo1	T	C	11: 23,211,863 (GRCm39)	L8S	probably damaging	Het
Zfand4	G	A	6: 116,250,599 (GRCm39)	G10R	probably damaging	Het
Zfp119a	T	A	17: 56,172,826 (GRCm39)	H339L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Insyn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03367:Insyn1	APN	9	58,406,381 (GRCm39)	missense	probably damaging	1.00
R1234:Insyn1	UTSW	9	58,406,715 (GRCm39)	small deletion	probably benign
R1367:Insyn1	UTSW	9	58,406,263 (GRCm39)	missense	probably damaging	1.00
R1615:Insyn1	UTSW	9	58,406,351 (GRCm39)	missense	probably damaging	0.96
R1850:Insyn1	UTSW	9	58,406,392 (GRCm39)	missense	probably benign
R2088:Insyn1	UTSW	9	58,406,288 (GRCm39)	missense	probably damaging	1.00
R3943:Insyn1	UTSW	9	58,406,715 (GRCm39)	small deletion	probably benign
R3955:Insyn1	UTSW	9	58,406,906 (GRCm39)	missense	probably damaging	1.00
R4614:Insyn1	UTSW	9	58,406,715 (GRCm39)	small deletion	probably benign
R6164:Insyn1	UTSW	9	58,406,530 (GRCm39)	missense	probably damaging	0.96
R6622:Insyn1	UTSW	9	58,406,533 (GRCm39)	missense	probably benign	0.00
R7561:Insyn1	UTSW	9	58,406,687 (GRCm39)	missense	probably damaging	1.00
R8717:Insyn1	UTSW	9	58,406,623 (GRCm39)	missense	probably damaging	1.00
R9780:Insyn1	UTSW	9	58,406,881 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTTTGAACTGGAGCCAGATGAC -3'
(R):5'- AGTGCTGCTGTTCCTTGTGACC -3'

Sequencing Primer
(F):5'- GGCTGATATCCTCTCAGACAG -3'
(R):5'- GTTCCTTGTGACCCTCCG -3'

Posted On

2014-03-17