Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00572:Sypl1'

14328

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sypl1

Ensembl Gene

ENSMUSG00000020570

Gene Name

synaptophysin like 1

Synonyms

D12Ertd446e, Pphn, Pan I, Sypl

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00572

Quality Score

Status

Chromosome

Chromosomal Location

33003874-33029503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33004293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2 (S2T)

Ref Sequence

ENSEMBL: ENSMUSP00000122695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020885] [ENSMUST00000076698] [ENSMUST00000122861]

AlphaFold

O09117

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020885
AA Change: S2T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020885
Gene: ENSMUSG00000020570
AA Change: S2T

Domain	Start	End	E-Value	Type
Pfam:MARVEL	10	215	6.9e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076698
AA Change: S20T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075990
Gene: ENSMUSG00000020570
AA Change: S20T

Domain	Start	End	E-Value	Type
Pfam:MARVEL	28	233	1.3e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122861
AA Change: S2T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181670

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	G	17: 56,127,648 (GRCm39)	I563V	probably benign	Het
Adgrl2	A	G	3: 148,532,134 (GRCm39)	L1033P	probably damaging	Het
Aqr	A	C	2: 113,956,423 (GRCm39)	I840M	possibly damaging	Het
Bmper	G	A	9: 23,317,823 (GRCm39)	V481M	probably damaging	Het
Chd8	T	C	14: 52,463,595 (GRCm39)	E683G	probably damaging	Het
Cpn1	A	G	19: 43,952,268 (GRCm39)	V338A	probably damaging	Het
Cs	A	G	10: 128,196,833 (GRCm39)		probably benign	Het
Gm4540	C	T	3: 105,942,123 (GRCm39)		probably benign	Het
Hdc	A	G	2: 126,443,792 (GRCm39)	F296L	probably benign	Het
Helt	T	C	8: 46,746,559 (GRCm39)	E32G	probably damaging	Het
Hivep1	C	T	13: 42,312,347 (GRCm39)	A1529V	probably benign	Het
Klk1b4	A	T	7: 43,860,198 (GRCm39)	H104L	possibly damaging	Het
Lrrc37	A	G	11: 103,506,236 (GRCm39)	F1911L	probably benign	Het
Ncf2	C	A	1: 152,683,925 (GRCm39)	T48N	possibly damaging	Het
Phkg1	G	A	5: 129,893,914 (GRCm39)	Q274*	probably null	Het
Slc1a2	A	G	2: 102,607,921 (GRCm39)	D520G	possibly damaging	Het
Slc25a10	G	T	11: 120,387,933 (GRCm39)		probably null	Het
Slc8a1	A	T	17: 81,696,155 (GRCm39)	S960T	probably damaging	Het
Sp140	G	A	1: 85,549,393 (GRCm39)	R208K	probably benign	Het
St7	A	G	6: 17,855,005 (GRCm39)	E245G	probably damaging	Het
Tbx20	T	C	9: 24,636,984 (GRCm39)	T368A	probably benign	Het
Tmem126a	T	C	7: 90,100,040 (GRCm39)	T168A	probably benign	Het
Ttn	T	C	2: 76,576,934 (GRCm39)	D24653G	probably damaging	Het
Ttn	A	G	2: 76,777,323 (GRCm39)	S1360P	probably damaging	Het
Uggt2	A	T	14: 119,280,203 (GRCm39)	F282L	probably benign	Het
Usp36	A	T	11: 118,155,646 (GRCm39)	N875K	possibly damaging	Het
Usp9x	C	A	X: 12,991,815 (GRCm39)	H869N	probably benign	Het
Xpnpep1	T	C	19: 52,998,579 (GRCm39)	E223G	probably benign	Het
Zfp729a	G	A	13: 67,767,440 (GRCm39)	P930S	probably benign	Het
Zscan10	G	A	17: 23,828,435 (GRCm39)	V216M	probably damaging	Het

Other mutations in Sypl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Sypl1	APN	12	33,015,505 (GRCm39)	splice site	probably benign
IGL01778:Sypl1	APN	12	33,025,641 (GRCm39)	missense	probably damaging	1.00
IGL02716:Sypl1	APN	12	33,017,668 (GRCm39)	missense	probably damaging	1.00
R0524:Sypl1	UTSW	12	33,017,564 (GRCm39)	missense	possibly damaging	0.69
R0639:Sypl1	UTSW	12	33,015,420 (GRCm39)	missense	probably damaging	1.00
R0673:Sypl1	UTSW	12	33,015,420 (GRCm39)	missense	probably damaging	1.00
R1463:Sypl1	UTSW	12	33,024,332 (GRCm39)	unclassified	probably benign
R4829:Sypl1	UTSW	12	33,017,645 (GRCm39)	missense	probably damaging	1.00
R7102:Sypl1	UTSW	12	33,024,254 (GRCm39)	missense	probably benign
R8993:Sypl1	UTSW	12	33,025,662 (GRCm39)	missense	probably benign	0.05
R9199:Sypl1	UTSW	12	33,016,463 (GRCm39)	intron	probably benign

Posted On

2012-12-06