Mutagenetix > Incidental Mutations

Incidental Mutation 'R3938:Sytl1'

307263

Institutional Source

Beutler Lab

Gene Symbol

Sytl1

Ensembl Gene

ENSMUSG00000028860

Gene Name

synaptotagmin-like 1

Synonyms

PSGL-1, Slp1

MMRRC Submission

040825-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133253090-133263113 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 133255624 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 359 (Q359*)

Ref Sequence

ENSEMBL: ENSMUSP00000101528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030674] [ENSMUST00000030677] [ENSMUST00000105908]

Predicted Effect

probably null
Transcript: ENSMUST00000030674
AA Change: Q424*

SMART Domains

Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860
AA Change: Q424*

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: ENSMUST00000030677

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862

Domain	Start	End	E-Value	Type
low complexity region	98	109	N/A	INTRINSIC
Pfam:DUF4071	130	508	2.3e-150	PFAM
S_TKc	649	907	3.49e-87	SMART
low complexity region	925	940	N/A	INTRINSIC
low complexity region	947	960	N/A	INTRINSIC
low complexity region	975	990	N/A	INTRINSIC
low complexity region	1130	1146	N/A	INTRINSIC
coiled coil region	1164	1195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105908
AA Change: Q359*

SMART Domains

Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860
AA Change: Q359*

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: ENSMUST00000134895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154911

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,154,294	P1561L	probably damaging	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,186,928	N659I	probably benign	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,384,079	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,352,673	T293I	probably benign	Het
Chd5	A	T	4: 152,377,055	T1275S	probably benign	Het
Chtf8	A	T	8: 106,885,905	M134K	probably benign	Het
Col11a2	A	T	17: 34,039,625		probably benign	Het
Cyp8b1	A	G	9: 121,915,618	V216A	probably benign	Het
Dnah8	C	T	17: 30,854,937	T4527M	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Erap1	T	A	13: 74,668,028	L92Q	probably damaging	Het
Exoc3l	G	T	8: 105,293,405	P296H	probably damaging	Het
Gm5294	A	T	5: 138,820,968	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hrnr	T	A	3: 93,322,855	N133K	probably benign	Het
Itgax	G	T	7: 128,136,273	R504S	possibly damaging	Het
Itgb4	A	G	11: 116,005,926	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,282,801	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,712,780	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga1	G	T	17: 29,857,622	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,124,683	V466A	possibly damaging	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,695,473	L311P	probably damaging	Het
Nup205	A	G	6: 35,219,742	R1138G	probably damaging	Het
Nup54	A	G	5: 92,417,529	M443T	probably damaging	Het
Peak1	T	C	9: 56,260,365	E93G	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Poll	A	G	19: 45,558,418		probably benign	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Pygm	A	T	19: 6,392,950	I556F	probably benign	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rcor3	G	T	1: 192,101,085	T361K	possibly damaging	Het
Robo4	A	G	9: 37,402,017		probably benign	Het
Rps15	T	C	10: 80,293,839	V96A	probably benign	Het
Rrm2	T	A	12: 24,709,432	N55K	probably damaging	Het
Shank2	T	C	7: 144,128,375	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,491,993	E3*	probably null	Het
Slc7a8	T	A	14: 54,735,841	E223V	probably benign	Het
Snx13	A	G	12: 35,144,097	K880E	probably benign	Het
Spinkl	T	G	18: 44,168,149	M41L	probably benign	Het
Srp54a	A	C	12: 55,089,257	N19T	probably benign	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Tlr6	A	T	5: 64,953,595	F656L	probably damaging	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tmem45a2	C	T	16: 57,039,035	D278N	probably benign	Het
Trav7-1	T	C	14: 52,655,334		probably benign	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,950,816		probably benign	Het
Usp9y	C	T	Y: 1,313,741	M2188I	probably damaging	Het
Utrn	C	A	10: 12,750,030		probably null	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,305,416	Y59F	probably damaging	Het

Other mutations in Sytl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01899:Sytl1	APN	4	133258856	splice site	probably null
IGL02693:Sytl1	APN	4	133257746	missense	probably benign	0.03
IGL02721:Sytl1	APN	4	133258878	missense	probably benign	0.25
IGL02975:Sytl1	APN	4	133261032	missense	probably benign	0.05
FR4304:Sytl1	UTSW	4	133256993	small deletion	probably benign
R0242:Sytl1	UTSW	4	133253457	missense	probably damaging	1.00
R0242:Sytl1	UTSW	4	133253457	missense	probably damaging	1.00
R0677:Sytl1	UTSW	4	133253225	missense	possibly damaging	0.89
R1135:Sytl1	UTSW	4	133256970	missense	probably damaging	1.00
R1269:Sytl1	UTSW	4	133256115	missense	probably damaging	1.00
R2018:Sytl1	UTSW	4	133256160	missense	probably damaging	0.99
R2106:Sytl1	UTSW	4	133257463	missense	probably benign	0.00
R4210:Sytl1	UTSW	4	133253565	missense	probably damaging	1.00
R4970:Sytl1	UTSW	4	133255582	nonsense	probably null
R5027:Sytl1	UTSW	4	133256219	intron	probably benign
R5325:Sytl1	UTSW	4	133261071	start gained	probably benign
R5557:Sytl1	UTSW	4	133259356	missense	probably damaging	1.00
R6310:Sytl1	UTSW	4	133260998	missense	probably benign	0.34
R8235:Sytl1	UTSW	4	133260946	missense	probably damaging	1.00
T0722:Sytl1	UTSW	4	133256851	splice site	probably benign
T0722:Sytl1	UTSW	4	133256853	splice site	probably benign
T0975:Sytl1	UTSW	4	133256994	small deletion	probably benign
Z1176:Sytl1	UTSW	4	133256937	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCTGCTGATCTTGGCTGG -3'
(R):5'- GTAGAGGCCCTGTCCCCAAC -3'

Sequencing Primer
(F):5'- GGGGGACAGGTGGGTCAG -3'
(R):5'- ACCCTTCTCACACATAATCCTG -3'

Posted On

2015-04-17