Mutagenetix > Incidental Mutation

Incidental Mutation 'R8939:Syt14'

680816

Institutional Source

Beutler Lab

Gene Symbol

Syt14

Ensembl Gene

ENSMUSG00000016200

Gene Name

synaptotagmin XIV

Synonyms

B230320I09Rik

MMRRC Submission

068712-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192573541-192718083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 192612896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 635 (R635C)

Ref Sequence

ENSEMBL: ENSMUSP00000151129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016344] [ENSMUST00000195354] [ENSMUST00000195530] [ENSMUST00000215093]

AlphaFold

Q7TN84

Predicted Effect

probably damaging
Transcript: ENSMUST00000016344
AA Change: R352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: R352C

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
C2	276	378	1.41e0	SMART
C2	431	547	1.38e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195354
AA Change: R352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: R352C

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
C2	276	378	1.41e0	SMART
C2	431	547	1.38e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195530

SMART Domains

Protein: ENSMUSP00000141563
Gene: ENSMUSG00000016200

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215093
AA Change: R635C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: This gene encodes a member of the synaptotagmin family. The encoded protein may be involved in membrane trafficking. Disruption of a similar gene in human has been associated with autosomal recessive spinocerebellar ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,225,162 (GRCm39)	V12A	probably benign	Het
Abcc12	A	G	8: 87,243,947 (GRCm39)	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,624,977 (GRCm39)	T473A	probably damaging	Het
Acsm1	A	T	7: 119,239,868 (GRCm39)	T271S	probably benign	Het
Adh6b	T	C	3: 138,055,397 (GRCm39)	I49T	probably benign	Het
Aff4	A	T	11: 53,263,231 (GRCm39)	T84S	probably benign	Het
Angptl7	G	A	4: 148,580,956 (GRCm39)	R280*	probably null	Het
Bhlhe23	T	A	2: 180,418,099 (GRCm39)	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,014,544 (GRCm39)		probably null	Het
Cfap45	C	G	1: 172,372,834 (GRCm39)	R510G	probably damaging	Het
Chl1	A	G	6: 103,642,868 (GRCm39)	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,896,870 (GRCm39)	T336S	probably benign	Het
Clpx	A	G	9: 65,231,519 (GRCm39)	K535E	probably benign	Het
Crybg3	T	C	16: 59,376,512 (GRCm39)	M1581V	probably benign	Het
Ddx4	A	T	13: 112,758,823 (GRCm39)	I246K	probably benign	Het
F7	G	T	8: 13,078,724 (GRCm39)	G52C	probably damaging	Het
Fam186b	T	C	15: 99,177,223 (GRCm39)	Q701R	probably benign	Het
Fign	T	A	2: 63,809,456 (GRCm39)	M605L	probably benign	Het
Fpr2	T	C	17: 18,113,883 (GRCm39)	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gria2	A	T	3: 80,618,170 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsto2	T	C	19: 47,873,203 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,299 (GRCm39)	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,266,888 (GRCm39)		probably null	Het
Ighv1-80	C	T	12: 115,876,113 (GRCm39)	G68R	probably damaging	Het
Il10ra	A	G	9: 45,177,802 (GRCm39)	V69A	unknown	Het
Klhdc1	C	T	12: 69,300,537 (GRCm39)	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,556,229 (GRCm39)	I166T	unknown	Het
Lce1h	A	T	3: 92,670,976 (GRCm39)	C59S	unknown	Het
Magi3	T	C	3: 103,996,748 (GRCm39)		probably benign	Het
Map3k1	G	T	13: 111,892,837 (GRCm39)	S806*	probably null	Het
Map3k6	T	A	4: 132,979,954 (GRCm39)		probably benign	Het
Mgam	G	A	6: 40,740,137 (GRCm39)		probably null	Het
Mtx1	A	G	3: 89,120,033 (GRCm39)	V207A	probably damaging	Het
Muc5ac	A	T	7: 141,347,091 (GRCm39)	N356Y	probably damaging	Het
Myo16	T	C	8: 10,524,679 (GRCm39)	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,166,761 (GRCm39)	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,086,382 (GRCm39)	V28I	probably benign	Het
Or10h28	A	G	17: 33,488,589 (GRCm39)	K297R	probably damaging	Het
Or5b122	A	C	19: 13,562,860 (GRCm39)	N64T	probably damaging	Het
Pcmtd2	T	C	2: 181,496,863 (GRCm39)		probably benign	Het
Pcnx3	A	G	19: 5,730,347 (GRCm39)	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,571,319 (GRCm39)	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,926 (GRCm39)	V70A	probably damaging	Het
Psd2	G	A	18: 36,121,292 (GRCm39)	V421M	probably damaging	Het
Qng1	C	T	13: 58,532,875 (GRCm39)	A32T	probably damaging	Het
Rbak	C	T	5: 143,160,025 (GRCm39)	E343K	possibly damaging	Het
Rhbdf1	G	A	11: 32,160,093 (GRCm39)	A136V	probably benign	Het
Rusc1	T	A	3: 88,995,337 (GRCm39)	E231D	probably benign	Het
Rxfp1	T	C	3: 79,552,231 (GRCm39)	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,734,776 (GRCm39)	E88G	probably benign	Het
Sec23b	T	C	2: 144,411,137 (GRCm39)		probably null	Het
Sgcb	A	T	5: 73,801,661 (GRCm39)	I68N	probably damaging	Het
Sh3pxd2b	T	C	11: 32,364,433 (GRCm39)		probably benign	Het
Slc25a48	C	T	13: 56,611,519 (GRCm39)	P209S	probably damaging	Het
Slc9a3	C	A	13: 74,311,895 (GRCm39)	H614Q	possibly damaging	Het
Slurp1	G	A	15: 74,598,763 (GRCm39)	S76L	probably damaging	Het
Spen	T	C	4: 141,202,969 (GRCm39)	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,649,549 (GRCm39)	P151S	possibly damaging	Het
Sstr4	C	A	2: 148,238,228 (GRCm39)	L280M	probably damaging	Het
Stard10	A	G	7: 100,991,847 (GRCm39)	Y117C	probably damaging	Het
Stard13	A	T	5: 150,968,574 (GRCm39)		probably null	Het
Stim2	G	T	5: 54,262,673 (GRCm39)	R305L	possibly damaging	Het
Tmcc3	A	T	10: 94,381,483 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,575,695 (GRCm39)	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,473,023 (GRCm39)	T493A	probably benign	Het
Ugt2b34	A	G	5: 87,039,158 (GRCm39)	L501P	probably damaging	Het
Umod	T	C	7: 119,068,700 (GRCm39)	I449V	probably damaging	Het
Vmn2r51	C	A	7: 9,833,953 (GRCm39)	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,346,488 (GRCm39)	T2910P	probably benign	Het
Zscan20	A	G	4: 128,498,315 (GRCm39)	S28P	probably benign	Het

Other mutations in Syt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Syt14	APN	1	192,612,792 (GRCm39)	missense	possibly damaging	0.88
IGL01535:Syt14	APN	1	192,669,073 (GRCm39)	missense	probably damaging	1.00
IGL01935:Syt14	APN	1	192,615,679 (GRCm39)	missense	probably damaging	0.99
IGL02531:Syt14	APN	1	192,584,242 (GRCm39)	makesense	probably null
IGL02716:Syt14	APN	1	192,662,843 (GRCm39)	missense	possibly damaging	0.92
IGL03051:Syt14	APN	1	192,615,528 (GRCm39)	missense	probably benign	0.19
IGL03268:Syt14	APN	1	192,669,142 (GRCm39)	missense	probably benign	0.25
crumpled	UTSW	1	192,584,177 (GRCm39)	missense	possibly damaging	0.82
R0542:Syt14	UTSW	1	192,613,111 (GRCm39)	missense	probably damaging	1.00
R0598:Syt14	UTSW	1	192,579,622 (GRCm39)	missense	probably damaging	1.00
R1533:Syt14	UTSW	1	192,613,084 (GRCm39)	missense	possibly damaging	0.94
R1675:Syt14	UTSW	1	192,579,790 (GRCm39)	missense	probably damaging	1.00
R1907:Syt14	UTSW	1	192,584,143 (GRCm39)	missense	probably damaging	1.00
R3032:Syt14	UTSW	1	192,669,059 (GRCm39)	missense	possibly damaging	0.86
R3828:Syt14	UTSW	1	192,584,083 (GRCm39)	missense	probably damaging	1.00
R3965:Syt14	UTSW	1	192,584,175 (GRCm39)	missense	probably benign	0.04
R4646:Syt14	UTSW	1	192,615,633 (GRCm39)	missense	probably damaging	1.00
R4730:Syt14	UTSW	1	192,613,094 (GRCm39)	missense	probably damaging	1.00
R4909:Syt14	UTSW	1	192,581,167 (GRCm39)	missense	probably damaging	1.00
R4970:Syt14	UTSW	1	192,613,285 (GRCm39)	intron	probably benign
R5039:Syt14	UTSW	1	192,709,292 (GRCm39)	missense	probably damaging	1.00
R5363:Syt14	UTSW	1	192,612,971 (GRCm39)	missense	possibly damaging	0.94
R5593:Syt14	UTSW	1	192,613,231 (GRCm39)	missense	probably damaging	1.00
R5980:Syt14	UTSW	1	192,662,716 (GRCm39)	missense	possibly damaging	0.89
R6014:Syt14	UTSW	1	192,613,003 (GRCm39)	missense	probably damaging	0.99
R6221:Syt14	UTSW	1	192,612,908 (GRCm39)	missense	probably damaging	1.00
R6547:Syt14	UTSW	1	192,584,177 (GRCm39)	missense	possibly damaging	0.82
R6804:Syt14	UTSW	1	192,584,161 (GRCm39)	missense	probably damaging	1.00
R7038:Syt14	UTSW	1	192,665,966 (GRCm39)	intron	probably benign
R7179:Syt14	UTSW	1	192,615,571 (GRCm39)	missense	probably damaging	1.00
R7196:Syt14	UTSW	1	192,717,936 (GRCm39)	missense	probably benign	0.01
R7311:Syt14	UTSW	1	192,662,858 (GRCm39)	missense	probably benign
R7577:Syt14	UTSW	1	192,665,885 (GRCm39)	missense	unknown
R7769:Syt14	UTSW	1	192,666,632 (GRCm39)	missense	unknown
R7779:Syt14	UTSW	1	192,666,751 (GRCm39)	missense	unknown
R8213:Syt14	UTSW	1	192,669,137 (GRCm39)	missense	probably benign	0.00
R8888:Syt14	UTSW	1	192,579,866 (GRCm39)	missense	probably damaging	1.00
R8960:Syt14	UTSW	1	192,666,515 (GRCm39)	intron	probably benign
R9109:Syt14	UTSW	1	192,612,944 (GRCm39)	nonsense	probably null
R9117:Syt14	UTSW	1	192,666,126 (GRCm39)	missense	unknown
R9127:Syt14	UTSW	1	192,584,131 (GRCm39)	missense	probably damaging	0.98
R9213:Syt14	UTSW	1	192,612,814 (GRCm39)	missense	probably damaging	0.97
R9298:Syt14	UTSW	1	192,612,944 (GRCm39)	nonsense	probably null
R9741:Syt14	UTSW	1	192,666,449 (GRCm39)	missense	unknown
Z1176:Syt14	UTSW	1	192,615,506 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATAGACTCCTCCTGTAGCATGTG -3'
(R):5'- TGGTAACGGTGACAGCTGTC -3'

Sequencing Primer
(F):5'- CGGTAACGACATTTTCCC -3'
(R):5'- TTCCAACATATAACAGGACAGGTG -3'

Posted On

2021-08-31