Mutagenetix > Incidental Mutation

Incidental Mutation 'R6622:Insyn1'

524534

Institutional Source

Beutler Lab

Gene Symbol

Insyn1

Ensembl Gene

ENSMUSG00000066607

Gene Name

inhibitory synaptic factor 1

Synonyms

6030419C18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6622 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

58395886-58407063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58406533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 148 (I148V)

Ref Sequence

ENSEMBL: ENSMUSP00000148914 (fasta)

Gene Model

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

AlphaFold

Q8CD60

Predicted Effect

probably benign
Transcript: ENSMUST00000085658
AA Change: I148V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082800
Gene: ENSMUSG00000066607
AA Change: I148V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216294
AA Change: I148V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	C	5: 81,942,606 (GRCm39)	D1412A	probably benign	Het
Arhgap26	A	G	18: 39,032,916 (GRCm39)		probably benign	Het
Card14	A	G	11: 119,224,814 (GRCm39)	M614V	probably benign	Het
Cbx2	A	G	11: 118,919,961 (GRCm39)	T509A	probably damaging	Het
Cep135	A	G	5: 76,788,815 (GRCm39)	D1136G	probably benign	Het
Cep170	T	A	1: 176,583,898 (GRCm39)	Q827L	probably damaging	Het
Clock	A	T	5: 76,389,801 (GRCm39)	I349K	probably damaging	Het
Cnppd1	A	T	1: 75,113,539 (GRCm39)	V243E	probably damaging	Het
Cops3	A	G	11: 59,723,960 (GRCm39)	F93L	probably damaging	Het
Cplane1	C	A	15: 8,273,706 (GRCm39)	A2563D	probably damaging	Het
Cxxc5	T	G	18: 35,992,372 (GRCm39)	C258G	possibly damaging	Het
Cycs	G	A	6: 50,543,443 (GRCm39)		probably benign	Het
Cyp2c40	A	T	19: 39,790,990 (GRCm39)	H280Q	probably damaging	Het
Cyp4f14	C	T	17: 33,133,619 (GRCm39)	R79H	probably benign	Het
Dnajc27	A	G	12: 4,153,114 (GRCm39)	S197G	probably benign	Het
Dscam	C	T	16: 96,446,273 (GRCm39)	G1456E	probably benign	Het
Dst	G	A	1: 34,218,332 (GRCm39)	V1591I	probably benign	Het
Epha5	A	G	5: 84,385,387 (GRCm39)	S315P	possibly damaging	Het
Frmd4a	A	G	2: 4,610,873 (GRCm39)	T1012A	probably benign	Het
Fxr2	G	A	11: 69,532,416 (GRCm39)		probably null	Het
Hcn4	T	A	9: 58,765,010 (GRCm39)	V534E	unknown	Het
Hrh4	A	G	18: 13,155,454 (GRCm39)	Y331C	probably damaging	Het
Kif16b	T	A	2: 142,554,362 (GRCm39)	H812L	probably benign	Het
Krt14	T	A	11: 100,094,786 (GRCm39)	R451S	probably benign	Het
Man2b1	A	G	8: 85,811,108 (GRCm39)	T80A	probably damaging	Het
Nedd4l	A	G	18: 65,307,305 (GRCm39)	T383A	probably damaging	Het
Pcdha9	T	A	18: 37,131,707 (GRCm39)	L259M	possibly damaging	Het
Pdgfd	T	C	9: 6,293,818 (GRCm39)	C131R	probably damaging	Het
Prrc2a	C	G	17: 35,374,396 (GRCm39)	R1418P	probably damaging	Het
Ptpra	G	T	2: 30,327,589 (GRCm39)	E114D	probably damaging	Het
Ptprt	A	T	2: 161,395,760 (GRCm39)	C1157S	probably damaging	Het
Rnf126	A	T	10: 79,597,397 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sel1l3	A	G	5: 53,297,202 (GRCm39)	V748A	probably damaging	Het
Serinc5	T	A	13: 92,825,194 (GRCm39)	S208T	probably benign	Het
Sftpb	A	G	6: 72,282,639 (GRCm39)	I74V	possibly damaging	Het
Slc22a14	A	C	9: 118,999,643 (GRCm39)	I516S	possibly damaging	Het
Slco2a1	G	A	9: 102,951,704 (GRCm39)	C411Y	possibly damaging	Het
Spata31f1e	T	A	4: 42,793,111 (GRCm39)	L340F	probably damaging	Het
Tent5a	G	T	9: 85,208,509 (GRCm39)	R105S	probably damaging	Het
Tet3	G	A	6: 83,380,426 (GRCm39)	P581S	probably benign	Het
Tmem231	T	C	8: 112,645,563 (GRCm39)	D112G	probably damaging	Het
Tnrc6b	T	A	15: 80,763,385 (GRCm39)	W296R	probably damaging	Het
Trpm1	T	A	7: 63,890,343 (GRCm39)	L982H	probably damaging	Het
Ttn	C	A	2: 76,550,862 (GRCm39)	R23183I	possibly damaging	Het
Tuft1	T	A	3: 94,542,726 (GRCm39)	Y46F	probably damaging	Het
Vmn1r167	T	A	7: 23,205,014 (GRCm39)	M1L	probably null	Het
Zfp808	A	G	13: 62,319,646 (GRCm39)	R292G	possibly damaging	Het
Zp2	T	C	7: 119,731,748 (GRCm39)	E669G	probably benign	Het
Zp2	C	T	7: 119,741,136 (GRCm39)	M129I	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
R1385:Insyn1	UTSW	9	58,406,715 (GRCm39)	small deletion	probably benign
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
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'- TTGAACTGGAGCCAGATGACTG -3'
(R):5'- ATACTGTCTGAGTGCTGCTG -3'

Sequencing Primer
(F):5'- CTCCAGCAGTGACAAGGCAG -3'
(R):5'- TCAACGGAGAGCGCTTG -3'

Posted On

2018-06-22