Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Sec22c'

43862

Institutional Source

Beutler Lab

Gene Symbol

Sec22c

Ensembl Gene

ENSMUSG00000061536

Gene Name

SEC22 homolog C, vesicle trafficking protein

Synonyms

5930407I15Rik, Sec22l3

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

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

Stock #

R0071 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

121509111-121534556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121521979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 44 (F44L)

Ref Sequence

ENSEMBL: ENSMUSP00000149594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078547] [ENSMUST00000111560] [ENSMUST00000139193] [ENSMUST00000154978] [ENSMUST00000215056]

AlphaFold

Q8BXT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000078547
AA Change: F115L

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

SMART Domains

Protein: ENSMUSP00000077628
Gene: ENSMUSG00000061536
AA Change: F115L

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 damaging
Transcript: ENSMUST00000111560
AA Change: F115L

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

SMART Domains

Protein: ENSMUSP00000107185
Gene: ENSMUSG00000061536
AA Change: F115L

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

probably benign
Transcript: ENSMUST00000154978

Predicted Effect

probably damaging
Transcript: ENSMUST00000215056
AA Change: F44L

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

Meta Mutation Damage Score

0.6997

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.2%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,812,746 (GRCm39)		probably benign	Het
Acot12	T	C	13: 91,929,293 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,027,915 (GRCm39)		probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Aox3	T	A	1: 58,211,050 (GRCm39)	C931*	probably null	Het
Apob	T	A	12: 8,052,111 (GRCm39)	V1184E	probably damaging	Het
Arhgap44	A	T	11: 64,902,721 (GRCm39)	L582Q	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Bccip	A	G	7: 133,315,960 (GRCm39)	D72G	probably damaging	Het
Bckdha	A	T	7: 25,329,868 (GRCm39)		probably null	Het
Bmerb1	A	G	16: 13,906,818 (GRCm39)	D11G	probably damaging	Het
Cald1	C	T	6: 34,735,069 (GRCm39)		probably benign	Het
Cby2	A	G	14: 75,821,621 (GRCm39)	S44P	probably benign	Het
Cdk11b	T	C	4: 155,733,880 (GRCm39)		probably benign	Het
Cebpe	G	T	14: 54,948,061 (GRCm39)	R261S	probably damaging	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chi3l1	T	C	1: 134,113,017 (GRCm39)	Y150H	probably benign	Het
Chrnd	T	C	1: 87,120,559 (GRCm39)		probably benign	Het
Clec4g	T	A	8: 3,767,489 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,275,407 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,391 (GRCm39)	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,460,217 (GRCm39)	T3525A	probably benign	Het
Ctsc	G	A	7: 87,957,357 (GRCm39)		probably benign	Het
Dnajc16	T	C	4: 141,495,318 (GRCm39)	T467A	probably benign	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Fam227b	T	A	2: 125,965,994 (GRCm39)	N144Y	probably benign	Het
Fam83h	A	G	15: 75,874,377 (GRCm39)	S987P	probably benign	Het
Fhod1	A	T	8: 106,063,857 (GRCm39)		probably null	Het
Folr1	A	G	7: 101,513,130 (GRCm39)		probably null	Het
Glis3	C	T	19: 28,241,255 (GRCm39)		probably benign	Het
Gm10069	T	C	6: 128,449,688 (GRCm39)		noncoding transcript	Het
Golgb1	G	A	16: 36,735,865 (GRCm39)	R1704Q	probably benign	Het
Gpr158	C	A	2: 21,815,479 (GRCm39)	T624K	probably benign	Het
Helz2	T	C	2: 180,878,200 (GRCm39)	Y866C	probably damaging	Het
Itpkb	T	A	1: 180,160,330 (GRCm39)	V152E	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Klhl32	A	G	4: 24,743,907 (GRCm39)	V88A	probably damaging	Het
Lct	C	T	1: 128,219,755 (GRCm39)	W1631*	probably null	Het
Lipa	T	A	19: 34,472,482 (GRCm39)	K313M	probably damaging	Het
Ly75	T	C	2: 60,152,163 (GRCm39)	K1130R	probably benign	Het
Mamdc2	C	A	19: 23,280,994 (GRCm39)	E685*	probably null	Het
Mdm1	A	G	10: 117,982,701 (GRCm39)	E112G	probably damaging	Het
Metrnl	A	T	11: 121,606,826 (GRCm39)	M212L	probably benign	Het
Mettl2	A	G	11: 105,022,468 (GRCm39)		probably benign	Het
Mxd3	A	T	13: 55,477,449 (GRCm39)	L11Q	probably damaging	Het
Myo7a	A	T	7: 97,706,037 (GRCm39)	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,421,388 (GRCm39)	Y118C	probably benign	Het
Obscn	G	A	11: 58,955,027 (GRCm39)	T3962M	possibly damaging	Het
Or13a20	A	T	7: 140,232,170 (GRCm39)	I93F	probably benign	Het
Or2d36	A	G	7: 106,746,919 (GRCm39)	Y132C	probably damaging	Het
Or5k3	C	A	16: 58,969,578 (GRCm39)	R122S	probably benign	Het
Osbpl11	T	C	16: 33,034,708 (GRCm39)		probably benign	Het
Pcdhb22	A	T	18: 37,653,131 (GRCm39)	D276V	probably damaging	Het
Pik3cb	A	T	9: 98,926,918 (GRCm39)	D886E	probably benign	Het
Pkhd1	T	A	1: 20,271,568 (GRCm39)	Y2995F	probably benign	Het
Raver2	C	T	4: 100,977,642 (GRCm39)		probably benign	Het
Rhbdf1	A	G	11: 32,160,498 (GRCm39)	L684P	probably damaging	Het
Rufy2	C	A	10: 62,824,946 (GRCm39)	L75M	possibly damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina1a	T	C	12: 103,822,002 (GRCm39)	K310R	probably benign	Het
Shoc1	A	G	4: 59,059,643 (GRCm39)	Y1006H	possibly damaging	Het
Sobp	A	G	10: 43,033,993 (GRCm39)	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,233,707 (GRCm39)	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,863,163 (GRCm39)	A104T	probably benign	Het
Spsb3	A	G	17: 25,106,878 (GRCm39)	D184G	probably damaging	Het
Sptan1	A	T	2: 29,893,354 (GRCm39)	K1148*	probably null	Het
Tdrd12	A	G	7: 35,228,671 (GRCm39)	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,100,777 (GRCm39)	T23A	probably benign	Het
Tra2b	A	T	16: 22,073,151 (GRCm39)		probably benign	Het
Tspan15	A	G	10: 62,038,849 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,572,710 (GRCm39)	N694S	probably benign	Het
Ttn	T	G	2: 76,597,813 (GRCm39)	D19700A	probably damaging	Het
Ube3b	G	A	5: 114,557,558 (GRCm39)	G1014D	probably damaging	Het
Unc5d	A	G	8: 29,209,854 (GRCm39)	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,007,566 (GRCm39)	T514I	possibly damaging	Het
Zfp595	T	C	13: 67,464,917 (GRCm39)	K452E	possibly damaging	Het
Zfp607a	A	G	7: 27,577,694 (GRCm39)	K255E	probably damaging	Het
Zxdc	T	G	6: 90,347,398 (GRCm39)	V253G	probably damaging	Het

Other mutations in Sec22c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Sec22c	APN	9	121,513,845 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTCTCCATAGGCTCTGAAGACAC -3'
(R):5'- TGCAGATTCTCGCCACCACATC -3'

Sequencing Primer
(F):5'- CAGAAAGCCACTGTGGAAAGTTC -3'
(R):5'- accaagtctatgcctacaatcc -3'

Posted On

2013-05-29