Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02975:Sytl1'

406339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sytl1

Ensembl Gene

ENSMUSG00000028860

Gene Name

synaptotagmin-like 1

Synonyms

PSGL-1, Slp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02975

Quality Score

Status

Chromosome

Chromosomal Location

132980401-132990398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132988343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 4 (R4S)

Ref Sequence

ENSEMBL: ENSMUSP00000101528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030674] [ENSMUST00000105908]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030674
AA Change: R4S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860
AA Change: R4S

Domain	Start	End	E-Value	Type
PDB:3BC1\|F	40	92	2e-9	PDB
low complexity region	169	183	N/A	INTRINSIC
low complexity region	235	262	N/A	INTRINSIC
C2	288	389	2.36e-17	SMART
C2	429	532	6.96e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105908
AA Change: R4S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860
AA Change: R4S

Domain	Start	End	E-Value	Type
PDB:3BC1\|F	40	92	2e-9	PDB
low complexity region	157	171	N/A	INTRINSIC
low complexity region	223	250	N/A	INTRINSIC
C2	276	359	3.15e-4	SMART
C2	364	467	6.96e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154911

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit increased number of acinar zygomen granules in a fasted state that can be released by strong stimuli of the fed state. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abtb3	A	G	10: 85,467,207 (GRCm39)	I721V	probably benign	Het
Ago4	C	T	4: 126,406,312 (GRCm39)		probably null	Het
Ank	A	G	15: 27,467,087 (GRCm39)		probably benign	Het
Ankmy2	C	A	12: 36,243,773 (GRCm39)	S329R	possibly damaging	Het
Aox1	A	G	1: 58,107,550 (GRCm39)	E608G	probably damaging	Het
Car1	G	A	3: 14,842,882 (GRCm39)	L48F	probably benign	Het
Cct8	A	G	16: 87,283,118 (GRCm39)		probably benign	Het
Clasp1	A	T	1: 118,390,277 (GRCm39)	T154S	probably damaging	Het
Clca4a	A	C	3: 144,669,530 (GRCm39)	I340M	possibly damaging	Het
Cnksr3	C	T	10: 7,088,354 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,210,199 (GRCm39)	T265A	possibly damaging	Het
Ddx5	T	C	11: 106,672,711 (GRCm39)	I605V	probably benign	Het
Eif3i	A	G	4: 129,489,105 (GRCm39)	Y70H	probably damaging	Het
Epb41l5	T	C	1: 119,506,811 (GRCm39)		probably benign	Het
Fah	A	T	7: 84,250,287 (GRCm39)	S90T	probably benign	Het
Fat2	T	A	11: 55,161,020 (GRCm39)	M3237L	probably benign	Het
Fbxw8	A	G	5: 118,215,760 (GRCm39)	Y417H	probably benign	Het
Fmnl2	C	A	2: 52,991,494 (GRCm39)	F336L	probably benign	Het
Gli3	A	G	13: 15,899,153 (GRCm39)	R847G	probably damaging	Het
Gm17509	T	C	13: 117,357,308 (GRCm39)		probably benign	Het
Gm4846	T	A	1: 166,311,449 (GRCm39)	Y470F	possibly damaging	Het
Gm7461	T	C	8: 4,727,847 (GRCm39)		noncoding transcript	Het
Gpatch4	A	T	3: 87,961,743 (GRCm39)	N134I	possibly damaging	Het
Grina	A	G	15: 76,133,185 (GRCm39)	Y251C	probably damaging	Het
Gsn	A	G	2: 35,194,666 (GRCm39)	D654G	probably benign	Het
Hyal5	A	G	6: 24,891,451 (GRCm39)	T422A	probably benign	Het
Iars1	T	A	13: 49,858,325 (GRCm39)	I377N	probably damaging	Het
Ints3	A	T	3: 90,309,144 (GRCm39)		probably benign	Het
Kdm4b	G	A	17: 56,682,996 (GRCm39)		probably null	Het
Kyat1	A	G	2: 30,076,687 (GRCm39)	S276P	probably damaging	Het
Lrrc1	A	G	9: 77,359,929 (GRCm39)	C288R	probably damaging	Het
Mst1r	T	A	9: 107,790,379 (GRCm39)	M664K	probably benign	Het
Neb	A	T	2: 52,188,879 (GRCm39)	I817N	probably damaging	Het
Nudt6	C	A	3: 37,473,667 (GRCm39)	G18V	probably damaging	Het
Or10a49	G	A	7: 108,468,062 (GRCm39)	Q100*	probably null	Het
Or4k52	T	A	2: 111,611,266 (GRCm39)	Y200*	probably null	Het
Or7a41	T	C	10: 78,870,867 (GRCm39)	V79A	possibly damaging	Het
Pde1c	A	G	6: 56,135,921 (GRCm39)	I341T	probably damaging	Het
Pgm5	T	C	19: 24,812,212 (GRCm39)	I107V	probably benign	Het
Pot1b	G	A	17: 55,969,454 (GRCm39)		probably benign	Het
Prkca	C	T	11: 108,231,503 (GRCm39)	W58*	probably null	Het
Slc12a9	T	C	5: 137,320,705 (GRCm39)	K555R	probably damaging	Het
Smoc2	A	T	17: 14,556,872 (GRCm39)	Q107L	probably damaging	Het
Tbc1d4	A	G	14: 101,695,549 (GRCm39)	L963P	probably damaging	Het
Tfdp2	G	A	9: 96,199,989 (GRCm39)		probably benign	Het
Tmem63a	A	T	1: 180,788,640 (GRCm39)	M326L	probably benign	Het
Vmn2r66	A	G	7: 84,656,182 (GRCm39)	L278P	probably damaging	Het
Wtap	A	G	17: 13,202,398 (GRCm39)	V11A	possibly damaging	Het
Zcchc9	A	T	13: 91,954,172 (GRCm39)	S28T	possibly damaging	Het
Zfp12	C	T	5: 143,229,814 (GRCm39)		probably benign	Het

Other mutations in Sytl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01899:Sytl1	APN	4	132,986,167 (GRCm39)	splice site	probably null
IGL02693:Sytl1	APN	4	132,985,057 (GRCm39)	missense	probably benign	0.03
IGL02721:Sytl1	APN	4	132,986,189 (GRCm39)	missense	probably benign	0.25
FR4304:Sytl1	UTSW	4	132,984,304 (GRCm39)	small deletion	probably benign
R0242:Sytl1	UTSW	4	132,980,768 (GRCm39)	missense	probably damaging	1.00
R0242:Sytl1	UTSW	4	132,980,768 (GRCm39)	missense	probably damaging	1.00
R0677:Sytl1	UTSW	4	132,980,536 (GRCm39)	missense	possibly damaging	0.89
R1135:Sytl1	UTSW	4	132,984,281 (GRCm39)	missense	probably damaging	1.00
R1269:Sytl1	UTSW	4	132,983,426 (GRCm39)	missense	probably damaging	1.00
R2018:Sytl1	UTSW	4	132,983,471 (GRCm39)	missense	probably damaging	0.99
R2106:Sytl1	UTSW	4	132,984,774 (GRCm39)	missense	probably benign	0.00
R3938:Sytl1	UTSW	4	132,982,935 (GRCm39)	nonsense	probably null
R4210:Sytl1	UTSW	4	132,980,876 (GRCm39)	missense	probably damaging	1.00
R4970:Sytl1	UTSW	4	132,982,893 (GRCm39)	nonsense	probably null
R5027:Sytl1	UTSW	4	132,983,530 (GRCm39)	intron	probably benign
R5325:Sytl1	UTSW	4	132,988,382 (GRCm39)	start gained	probably benign
R5557:Sytl1	UTSW	4	132,986,667 (GRCm39)	missense	probably damaging	1.00
R6310:Sytl1	UTSW	4	132,988,309 (GRCm39)	missense	probably benign	0.34
R8235:Sytl1	UTSW	4	132,988,257 (GRCm39)	missense	probably damaging	1.00
R9086:Sytl1	UTSW	4	132,988,175 (GRCm39)	missense	possibly damaging	0.75
R9183:Sytl1	UTSW	4	132,980,934 (GRCm39)	missense	possibly damaging	0.77
R9515:Sytl1	UTSW	4	132,986,291 (GRCm39)	critical splice donor site	probably null
R9516:Sytl1	UTSW	4	132,986,291 (GRCm39)	critical splice donor site	probably null
T0722:Sytl1	UTSW	4	132,984,164 (GRCm39)	splice site	probably benign
T0722:Sytl1	UTSW	4	132,984,162 (GRCm39)	splice site	probably benign
T0975:Sytl1	UTSW	4	132,984,305 (GRCm39)	small deletion	probably benign
Z1176:Sytl1	UTSW	4	132,984,248 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02