Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Syngr1'

400355

Institutional Source

Beutler Lab

Gene Symbol

Syngr1

Ensembl Gene

ENSMUSG00000022415

Gene Name

synaptogyrin 1

Synonyms

Syngr1b, p29

MMRRC Submission

042861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79975537-80003702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79982240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 9 (M9K)

Ref Sequence

ENSEMBL: ENSMUSP00000120696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009727] [ENSMUST00000009728] [ENSMUST00000143928]

AlphaFold

O55100

Predicted Effect

probably benign
Transcript: ENSMUST00000009727

SMART Domains

Protein: ENSMUSP00000009727
Gene: ENSMUSG00000022415

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:MARVEL	20	167	6e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000009728

SMART Domains

Protein: ENSMUSP00000009728
Gene: ENSMUSG00000022415

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:MARVEL	20	167	1.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143928
AA Change: M9K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120696
Gene: ENSMUSG00000022415
AA Change: M9K

Domain	Start	End	E-Value	Type
Pfam:MARVEL	4	111	1.2e-24	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a moderate decrease in post-tetanic potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,496 (GRCm39)	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,949,311 (GRCm39)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,665,598 (GRCm39)		noncoding transcript	Het
Adprh	A	T	16: 38,266,416 (GRCm39)	L242*	probably null	Het
Anapc1	G	A	2: 128,527,905 (GRCm39)	Q18*	probably null	Het
Bfar	T	C	16: 13,510,261 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,745,568 (GRCm39)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,480,826 (GRCm39)		probably benign	Het
Clock	A	G	5: 76,389,801 (GRCm39)	I349T	probably damaging	Het
Cox11	A	G	11: 90,534,558 (GRCm39)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,610,121 (GRCm39)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,371,671 (GRCm39)	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843 (GRCm38)	D48G	probably damaging	Het
Engase	G	T	11: 118,372,223 (GRCm39)	A172S	probably damaging	Het
F2	T	C	2: 91,465,466 (GRCm39)		probably benign	Het
Galnt2l	A	G	8: 122,997,872 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,105,517 (GRCm39)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm20671	T	C	5: 32,977,303 (GRCm39)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 95,184,583 (GRCm39)	Y410*	probably null	Het
Gm27013	T	C	6: 130,653,878 (GRCm39)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,400,680 (GRCm39)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,383,896 (GRCm39)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,581,950 (GRCm39)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,041,131 (GRCm39)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,095,577 (GRCm39)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,814,665 (GRCm39)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,598,725 (GRCm39)	H66R	probably benign	Het
Ncor1	A	G	11: 62,231,371 (GRCm39)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,680,650 (GRCm39)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,838,204 (GRCm39)	T347I	probably benign	Het
Or10a3m	T	C	7: 108,313,424 (GRCm39)	L276S	probably damaging	Het
Or4c15b	A	T	2: 89,113,297 (GRCm39)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,546,222 (GRCm39)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,624,649 (GRCm39)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,900,566 (GRCm39)	Y61*	probably null	Het
Polk	T	C	13: 96,620,047 (GRCm39)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,744,174 (GRCm39)	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,319,417 (GRCm39)	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156 (GRCm39)	M368I	probably benign	Het
Shroom3	T	C	5: 93,110,107 (GRCm39)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,185,705 (GRCm39)	L226P	probably damaging	Het
St7l	A	T	3: 104,775,376 (GRCm39)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm39)	N392I	probably benign	Het
Taar2	T	C	10: 23,816,930 (GRCm39)	S157P	probably damaging	Het
Tagap1	G	T	17: 7,223,495 (GRCm39)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,412,848 (GRCm39)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,414,894 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,536,861 (GRCm39)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,011,064 (GRCm39)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,637,081 (GRCm39)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zap70	T	A	1: 36,820,446 (GRCm39)	V547D	probably damaging	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Znrf1	T	G	8: 112,335,976 (GRCm39)	M159R	probably benign	Het

Other mutations in Syngr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2092:Syngr1	UTSW	15	80,000,141 (GRCm39)	missense	possibly damaging	0.93
R2508:Syngr1	UTSW	15	79,995,941 (GRCm39)	missense	probably damaging	1.00
R3887:Syngr1	UTSW	15	80,000,240 (GRCm39)	missense	probably damaging	0.99
R5091:Syngr1	UTSW	15	80,000,086 (GRCm39)	missense	probably damaging	1.00
R5255:Syngr1	UTSW	15	79,975,647 (GRCm39)	missense	possibly damaging	0.78
R5440:Syngr1	UTSW	15	79,982,219 (GRCm39)	missense	probably benign
R6369:Syngr1	UTSW	15	79,999,791 (GRCm39)	unclassified	probably benign
R6596:Syngr1	UTSW	15	79,995,893 (GRCm39)	missense	probably damaging	0.98
R7216:Syngr1	UTSW	15	79,995,934 (GRCm39)	missense	probably damaging	1.00
R7834:Syngr1	UTSW	15	79,995,818 (GRCm39)	missense	probably damaging	1.00
R8395:Syngr1	UTSW	15	79,997,445 (GRCm39)	missense	probably benign	0.00
R9746:Syngr1	UTSW	15	79,975,659 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TGAGGACCTCTGCATGCATG -3'
(R):5'- TTCACAGGGGAGGTGACAGTTC -3'

Sequencing Primer
(F):5'- GCATGCCCTTACAGTAAATTCAGAGG -3'
(R):5'- GGCAGAGTAGAAGTCCCACATC -3'

Posted On

2016-07-06