Mutagenetix > Incidental Mutations

Incidental Mutation 'R1568:Sec22a'

175449

Institutional Source

Beutler Lab

Gene Symbol

Sec22a

Ensembl Gene

ENSMUSG00000034473

Gene Name

SEC22 homolog A, vesicle trafficking protein

Synonyms

Sec22l2, 1810005C06Rik

MMRRC Submission

039607-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35311131-35363918 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35347628 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 171 (D171G)

Ref Sequence

ENSEMBL: ENSMUSP00000155996 (fasta)

Gene Model

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

AlphaFold

Q8BH47

Predicted Effect

probably benign
Transcript: ENSMUST00000043521
AA Change: D171G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: D171G

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
AA Change: D171G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154216

Predicted Effect

probably benign
Transcript: ENSMUST00000232420
AA Change: D171G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	Het

Other mutations in Sec22a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:Sec22a	APN	16	35314100	missense	probably damaging	1.00
IGL03249:Sec22a	APN	16	35347763	missense	probably damaging	1.00
Quills	UTSW	16	35361556	splice site	probably null
R0681:Sec22a	UTSW	16	35361556	splice site	probably null
R1634:Sec22a	UTSW	16	35318873	intron	probably benign
R1863:Sec22a	UTSW	16	35347718	missense	probably damaging	1.00
R2200:Sec22a	UTSW	16	35314157	missense	probably damaging	0.97
R4114:Sec22a	UTSW	16	35318832	missense	probably damaging	1.00
R4115:Sec22a	UTSW	16	35318832	missense	probably damaging	1.00
R4116:Sec22a	UTSW	16	35318832	missense	probably damaging	1.00
R5086:Sec22a	UTSW	16	35347742	nonsense	probably null
R5986:Sec22a	UTSW	16	35314091	missense	probably damaging	1.00
R7042:Sec22a	UTSW	16	35329515	missense	probably benign	0.23
R7623:Sec22a	UTSW	16	35329524	missense	probably benign	0.18
R7878:Sec22a	UTSW	16	35347635	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTTCATCCTGTCCCAACTGTCAAG -3'
(R):5'- TCATTCAGAGGACCAAGCAGCG -3'

Sequencing Primer
(F):5'- TCCAGAAGTCACGTCTTCAGTAG -3'
(R):5'- AGCGATATAATAATCCCAGGTCTC -3'

Posted On

2014-04-24