Mutagenetix > Incidental Mutation

Incidental Mutation 'R5986:Sec22a'

481678

Institutional Source

Beutler Lab

Gene Symbol

Sec22a

Ensembl Gene

ENSMUSG00000034473

Gene Name

SEC22 homolog A, vesicle trafficking protein

Synonyms

1810005C06Rik, Sec22l2

MMRRC Submission

044166-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R5986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35131505-35184222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35134461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 307 (V307A)

Ref Sequence

ENSEMBL: ENSMUSP00000039568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043521] [ENSMUST00000154064] [ENSMUST00000232420]

AlphaFold

Q8BH47

Predicted Effect

probably damaging
Transcript: ENSMUST00000043521
AA Change: V307A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: V307A

Domain	Start	End	E-Value	Type
Longin	36	118	3.01e-23	SMART
transmembrane domain	188	210	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
transmembrane domain	254	271	N/A	INTRINSIC
transmembrane domain	276	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154064

Predicted Effect

probably damaging
Transcript: ENSMUST00000232420
AA Change: V285A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,566,145 (GRCm39)	F992I	probably damaging	Het
Ampd1	T	C	3: 102,992,713 (GRCm39)	F152L	probably damaging	Het
Ank2	T	C	3: 126,806,335 (GRCm39)	H602R	possibly damaging	Het
Ankib1	T	C	5: 3,797,071 (GRCm39)	D247G	probably damaging	Het
Bccip	T	A	7: 133,322,594 (GRCm39)	H313Q	probably benign	Het
Ccdc198	A	T	14: 49,470,403 (GRCm39)	L172H	probably damaging	Het
Cep250	A	G	2: 155,821,197 (GRCm39)	E929G	probably damaging	Het
Chl1	C	A	6: 103,686,152 (GRCm39)	L954I	probably benign	Het
Cog5	A	T	12: 31,710,716 (GRCm39)	D32V	probably benign	Het
Cyp4f16	C	A	17: 32,763,116 (GRCm39)	A187E	probably benign	Het
Dffb	A	T	4: 154,050,050 (GRCm39)	V271E	probably damaging	Het
Dnah8	A	G	17: 31,070,604 (GRCm39)	Y4430C	possibly damaging	Het
Dpp3	T	C	19: 4,968,385 (GRCm39)	E229G	probably benign	Het
Fat3	T	A	9: 15,909,613 (GRCm39)	N2130Y	probably benign	Het
Kcnk3	T	C	5: 30,745,722 (GRCm39)	V21A	possibly damaging	Het
Kif9	G	A	9: 110,319,094 (GRCm39)	S186N	probably benign	Het
Lhfpl3	C	A	5: 22,951,424 (GRCm39)	N78K	probably benign	Het
Ly6c1	A	G	15: 74,917,457 (GRCm39)	S64P	probably damaging	Het
Mapk10	T	C	5: 103,186,446 (GRCm39)	T59A	probably benign	Het
Mars1	A	T	10: 127,140,171 (GRCm39)	C394*	probably null	Het
Mettl16	T	A	11: 74,683,063 (GRCm39)	D168E	possibly damaging	Het
Mgat2	A	T	12: 69,232,158 (GRCm39)	Q244L	probably benign	Het
Mrps30	A	G	13: 118,521,101 (GRCm39)		probably null	Het
Myrip	C	A	9: 120,290,487 (GRCm39)	A702E	probably damaging	Het
Nepn	T	C	10: 52,280,168 (GRCm39)	L420P	probably damaging	Het
Nrn1	A	T	13: 36,918,238 (GRCm39)	Y9*	probably null	Het
Nup107	T	C	10: 117,595,081 (GRCm39)	Y752C	probably damaging	Het
Nutm2	A	T	13: 50,628,496 (GRCm39)	D520V	probably damaging	Het
Olfm2	C	T	9: 20,586,946 (GRCm39)	C48Y	probably damaging	Het
Or52j3	T	C	7: 102,836,735 (GRCm39)	F309S	possibly damaging	Het
Or8g19	A	G	9: 39,056,278 (GRCm39)	N294S	probably null	Het
Osbpl1a	T	A	18: 13,038,138 (GRCm39)	D271V	probably damaging	Het
Osmr	G	T	15: 6,873,934 (GRCm39)	D154E	probably benign	Het
Pcdh9	A	G	14: 94,124,484 (GRCm39)	V562A	probably damaging	Het
Peak1	A	C	9: 56,166,726 (GRCm39)	S401A	probably benign	Het
Pigk	A	T	3: 152,446,486 (GRCm39)	H195L	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Ppp2r1a	C	T	17: 21,171,608 (GRCm39)	R28C	probably damaging	Het
Pramel30	G	T	4: 144,059,323 (GRCm39)	V345F	probably damaging	Het
Ptbp3	T	C	4: 59,493,311 (GRCm39)	D123G	probably benign	Het
Ptgr2	G	A	12: 84,355,120 (GRCm39)	E285K	possibly damaging	Het
Rassf1	G	T	9: 107,429,021 (GRCm39)	V76L	possibly damaging	Het
Skint5	C	T	4: 113,852,845 (GRCm39)	V18I	probably benign	Het
Slc1a5	T	C	7: 16,516,151 (GRCm39)	V109A	probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tiam1	T	C	16: 89,586,074 (GRCm39)	E602G	probably benign	Het
Tll1	T	C	8: 64,527,297 (GRCm39)	E408G	probably damaging	Het
Tpsb2	G	A	17: 25,586,108 (GRCm39)	V109M	probably benign	Het
Trib1	T	A	15: 59,526,451 (GRCm39)		probably null	Het
Trio	G	T	15: 27,852,019 (GRCm39)	A765E	possibly damaging	Het
Uggt2	A	T	14: 119,286,838 (GRCm39)	V193E	probably damaging	Het
Vmn1r115	G	A	7: 20,578,447 (GRCm39)	P155L	probably benign	Het
Wdr31	A	G	4: 62,374,113 (GRCm39)	L292S	probably benign	Het
Xrra1	T	C	7: 99,525,462 (GRCm39)	I127T	probably benign	Het
Yju2	G	A	17: 56,269,030 (GRCm39)	C46Y	probably damaging	Het
Zfp442	G	A	2: 150,249,944 (GRCm39)	Q596*	probably null	Het

Other mutations in Sec22a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:Sec22a	APN	16	35,134,470 (GRCm39)	missense	probably damaging	1.00
IGL03249:Sec22a	APN	16	35,168,133 (GRCm39)	missense	probably damaging	1.00
Quills	UTSW	16	35,181,926 (GRCm39)	splice site	probably null
R0681:Sec22a	UTSW	16	35,181,926 (GRCm39)	splice site	probably null
R1568:Sec22a	UTSW	16	35,167,998 (GRCm39)	missense	probably benign	0.17
R1634:Sec22a	UTSW	16	35,139,243 (GRCm39)	intron	probably benign
R1863:Sec22a	UTSW	16	35,168,088 (GRCm39)	missense	probably damaging	1.00
R2200:Sec22a	UTSW	16	35,134,527 (GRCm39)	missense	probably damaging	0.97
R4114:Sec22a	UTSW	16	35,139,202 (GRCm39)	missense	probably damaging	1.00
R4115:Sec22a	UTSW	16	35,139,202 (GRCm39)	missense	probably damaging	1.00
R4116:Sec22a	UTSW	16	35,139,202 (GRCm39)	missense	probably damaging	1.00
R5086:Sec22a	UTSW	16	35,168,112 (GRCm39)	nonsense	probably null
R7042:Sec22a	UTSW	16	35,149,885 (GRCm39)	missense	probably benign	0.23
R7623:Sec22a	UTSW	16	35,149,894 (GRCm39)	missense	probably benign	0.18
R7878:Sec22a	UTSW	16	35,168,005 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGATGGCCTGACATTCCAC -3'
(R):5'- AGCTGGCGGAATGTCAAGTC -3'

Sequencing Primer
(F):5'- GATGGCCTGACATTCCACTGTAG -3'
(R):5'- CTGGCGGAATGTCAAGTCATTTC -3'

Posted On

2017-06-26