Mutagenetix > Incidental Mutation

Incidental Mutation 'R8429:Syt17'

653652

Institutional Source

Beutler Lab

Gene Symbol

Syt17

Ensembl Gene

ENSMUSG00000058420

Gene Name

synaptotagmin XVII

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118380717-118448222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118434341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 144 (Y144F)

Ref Sequence

ENSEMBL: ENSMUSP00000080284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081574] [ENSMUST00000203465] [ENSMUST00000203485] [ENSMUST00000203796] [ENSMUST00000207034]

AlphaFold

Q920M7

Predicted Effect

probably benign
Transcript: ENSMUST00000081574
AA Change: Y144F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: Y144F

Domain	Start	End	E-Value	Type
low complexity region	90	102	N/A	INTRINSIC
low complexity region	103	118	N/A	INTRINSIC
low complexity region	159	172	N/A	INTRINSIC
C2	196	305	7.92e-19	SMART
low complexity region	315	328	N/A	INTRINSIC
C2	333	448	2.8e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203465
AA Change: Y143F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000203485
AA Change: Y148F

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

SMART Domains

Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: Y148F

Domain	Start	End	E-Value	Type
low complexity region	94	106	N/A	INTRINSIC
low complexity region	107	122	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
C2	200	309	5.2e-21	SMART
low complexity region	319	332	N/A	INTRINSIC
C2	337	419	3.1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203796
AA Change: Y87F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: Y87F

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
low complexity region	46	61	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
C2	139	248	5.2e-21	SMART
low complexity region	258	271	N/A	INTRINSIC
C2	276	391	1.9e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207034

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	T	17: 48,037,066	L143*	probably null	Het
2900026A02Rik	T	C	5: 113,183,436	T971A	probably benign	Het
4932415D10Rik	G	T	10: 82,289,467	Q2570K	possibly damaging	Het
4933425L06Rik	A	G	13: 105,118,788	Y459C	probably damaging	Het
Abca6	A	T	11: 110,202,382	C1022S	probably benign	Het
Adgrf4	G	T	17: 42,667,449	N334K	probably benign	Het
Baz1b	A	G	5: 135,217,331	K545E	probably benign	Het
Bin3	A	G	14: 70,137,149	Y209C	probably damaging	Het
Btbd16	G	A	7: 130,795,337	A223T	probably benign	Het
C3	A	G	17: 57,222,811	V555A	probably damaging	Het
Calm3	T	A	7: 16,919,667		probably null	Het
Cct4	T	A	11: 22,996,030	L124Q	probably damaging	Het
Cenpf	C	T	1: 189,657,307	D1443N	possibly damaging	Het
Egfem1	G	A	3: 29,657,268		probably null	Het
Epha4	G	T	1: 77,390,036	Q591K	probably benign	Het
Fanci	T	C	7: 79,438,385	F929L	possibly damaging	Het
Fnip1	A	T	11: 54,475,696	D95V	possibly damaging	Het
Foxc1	A	T	13: 31,807,776	H190L	probably benign	Het
Gm45713	T	C	7: 45,136,116	S2G	unknown	Het
Grin2b	T	C	6: 135,733,916	I877M	probably damaging	Het
Hadha	T	C	5: 30,144,257	I119V	probably benign	Het
Hcar2	C	T	5: 123,865,475		probably benign	Het
Krt13	A	T	11: 100,121,125	L124Q	probably damaging	Het
Larp1b	A	G	3: 40,977,227	*336W	probably null	Het
Lrmp	C	A	6: 145,165,223	D251E	probably damaging	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Meioc	A	T	11: 102,674,206	N160I	probably benign	Het
Mfsd2b	G	T	12: 4,866,487	Q331K	possibly damaging	Het
Mical2	T	A	7: 112,345,253	V930E	probably benign	Het
Mrgprb4	A	T	7: 48,198,425	F252I	probably benign	Het
Nars	A	G	18: 64,501,320	Y511H	probably damaging	Het
Naxe	C	A	3: 88,058,152	S84I	probably damaging	Het
Ncam2	A	T	16: 81,589,635	D634V	probably damaging	Het
Npat	C	T	9: 53,570,609	Q1206*	probably null	Het
Nr1d2	G	A	14: 18,215,409	T201I	probably benign	Het
Nup155	C	T	15: 8,112,420	H99Y	probably damaging	Het
Olfr1130	G	T	2: 87,607,524	L45F	probably benign	Het
Olfr1289	G	A	2: 111,483,495	V50I	possibly damaging	Het
Olfr209	A	G	16: 59,361,627	V197A	possibly damaging	Het
Olfr826	A	G	10: 130,180,223	V219A	possibly damaging	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Pde6a	T	A	18: 61,232,844	Y214N	probably damaging	Het
Pex7	T	C	10: 19,894,328	T145A	probably damaging	Het
Plekhj1	C	T	10: 80,796,470	S146N	probably benign	Het
Ralgapb	C	T	2: 158,426,297	P107S	probably damaging	Het
Satb1	A	G	17: 51,767,950	M506T	probably damaging	Het
Sh3gl1	T	C	17: 56,018,821	N203D	possibly damaging	Het
Slc7a12	A	T	3: 14,497,282	I240F	probably benign	Het
Thbd	G	T	2: 148,407,537	T137K	possibly damaging	Het
Tmem114	A	G	16: 8,412,167	F124L	probably damaging	Het
Ubtd1	G	T	19: 42,032,117		probably null	Het
Zfp458	A	G	13: 67,258,088	Y96H	possibly damaging	Het
Zfp78	T	C	7: 6,378,493	S181P	probably benign	Het

Other mutations in Syt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Syt17	APN	7	118434290	missense	probably damaging	0.98
IGL01135:Syt17	APN	7	118382047	missense	possibly damaging	0.92
IGL01331:Syt17	APN	7	118408166	missense	probably damaging	0.99
IGL01610:Syt17	APN	7	118433993	missense	possibly damaging	0.90
IGL01776:Syt17	APN	7	118409953	missense	probably damaging	0.99
IGL02125:Syt17	APN	7	118409974	missense	probably benign	0.01
IGL02819:Syt17	APN	7	118409920	splice site	probably benign
H8562:Syt17	UTSW	7	118408069	missense	probably benign	0.01
R0127:Syt17	UTSW	7	118409941	missense	probably damaging	0.98
R0328:Syt17	UTSW	7	118381993	missense	probably benign	0.28
R1789:Syt17	UTSW	7	118436838	missense	probably benign	0.00
R1872:Syt17	UTSW	7	118408118	missense	probably benign	0.00
R1878:Syt17	UTSW	7	118434245	missense	probably benign	0.01
R1918:Syt17	UTSW	7	118433985	missense	possibly damaging	0.54
R2133:Syt17	UTSW	7	118382047	missense	possibly damaging	0.92
R3777:Syt17	UTSW	7	118433957	missense	probably damaging	1.00
R4471:Syt17	UTSW	7	118436817	splice site	probably null
R4472:Syt17	UTSW	7	118436817	splice site	probably null
R4567:Syt17	UTSW	7	118434272	missense	probably benign	0.06
R5211:Syt17	UTSW	7	118442403	missense	probably benign	0.19
R5905:Syt17	UTSW	7	118436918	missense	probably benign	0.10
R6054:Syt17	UTSW	7	118408133	missense	possibly damaging	0.91
R6276:Syt17	UTSW	7	118434290	missense	probably damaging	0.98
R6332:Syt17	UTSW	7	118434243	missense	probably benign	0.00
R7022:Syt17	UTSW	7	118408019	missense	probably benign	0.00
R7440:Syt17	UTSW	7	118381884	missense	probably damaging	1.00
R7610:Syt17	UTSW	7	118434459	splice site	probably null
R7845:Syt17	UTSW	7	118409971	missense	possibly damaging	0.79
R8294:Syt17	UTSW	7	118410005	missense	probably damaging	0.99
R8296:Syt17	UTSW	7	118436846	missense	probably damaging	0.97
R8949:Syt17	UTSW	7	118433831	critical splice donor site	probably null
R9278:Syt17	UTSW	7	118434257	missense	probably damaging	1.00
R9622:Syt17	UTSW	7	118436968	missense	probably benign
R9629:Syt17	UTSW	7	118408156	missense	probably damaging	0.96
Z1177:Syt17	UTSW	7	118434223	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CCATCATGGGAGATTGGAGGTG -3'
(R):5'- ATTGAAGCAGAGAAGCCCGC -3'

Sequencing Primer
(F):5'- ATTGGAGGTGGCAGGTCCC -3'
(R):5'- CGTGGGCGTCTGGGGAC -3'

Posted On

2020-10-20