Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Sec22c'

282053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec22c

Ensembl Gene

ENSMUSG00000061536

Gene Name

SEC22 homolog C, vesicle trafficking protein

Synonyms

5930407I15Rik, Sec22l3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

121509111-121534556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121513845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 264 (A264V)

Ref Sequence

ENSEMBL: ENSMUSP00000107185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078547] [ENSMUST00000111560] [ENSMUST00000139193] [ENSMUST00000215056]

AlphaFold

Q8BXT9

Predicted Effect

probably benign
Transcript: ENSMUST00000078547
AA Change: A264V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077628
Gene: ENSMUSG00000061536
AA Change: A264V

Domain	Start	End	E-Value	Type
Longin	36	118	1.87e-19	SMART
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	243	N/A	INTRINSIC
transmembrane domain	250	269	N/A	INTRINSIC
transmembrane domain	273	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111560
AA Change: A264V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107185
Gene: ENSMUSG00000061536
AA Change: A264V

Domain	Start	End	E-Value	Type
Longin	36	118	1.87e-19	SMART
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	243	N/A	INTRINSIC
transmembrane domain	250	269	N/A	INTRINSIC
transmembrane domain	273	290	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132733

Predicted Effect

probably benign
Transcript: ENSMUST00000139193

SMART Domains

Protein: ENSMUSP00000114270
Gene: ENSMUSG00000061536

Domain	Start	End	E-Value	Type
SCOP:d1ifqa_	4	60	5e-12	SMART

Predicted Effect

silent
Transcript: ENSMUST00000215056

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		probably benign	Het

Other mutations in Sec22c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02563:Sec22c	APN	9	121,513,716 (GRCm39)	utr 3 prime	probably benign
IGL02582:Sec22c	APN	9	121,514,630 (GRCm39)	missense	probably benign	0.07
IGL03333:Sec22c	APN	9	121,517,284 (GRCm39)	missense	probably damaging	1.00
R0071:Sec22c	UTSW	9	121,521,979 (GRCm39)	missense	probably damaging	1.00
R0071:Sec22c	UTSW	9	121,521,979 (GRCm39)	missense	probably damaging	1.00
R1972:Sec22c	UTSW	9	121,517,320 (GRCm39)	missense	possibly damaging	0.88
R4604:Sec22c	UTSW	9	121,524,708 (GRCm39)	missense	probably damaging	1.00
R5913:Sec22c	UTSW	9	121,519,368 (GRCm39)	missense	possibly damaging	0.85
R8354:Sec22c	UTSW	9	121,524,721 (GRCm39)	missense	probably damaging	1.00
R8454:Sec22c	UTSW	9	121,524,721 (GRCm39)	missense	probably damaging	1.00
R8832:Sec22c	UTSW	9	121,514,638 (GRCm39)	missense	probably benign	0.33
R9149:Sec22c	UTSW	9	121,524,750 (GRCm39)	missense	probably damaging	1.00
R9293:Sec22c	UTSW	9	121,517,314 (GRCm39)	missense	probably damaging	0.98
R9529:Sec22c	UTSW	9	121,513,860 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16