Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Sec22a'

175449

Institutional Source

Beutler Lab

Gene Symbol

Sec22a

Ensembl Gene

ENSMUSG00000034473

Gene Name

SEC22 homolog A, vesicle trafficking protein

Synonyms

1810005C06Rik, Sec22l2

MMRRC Submission

039607-MU

Accession Numbers

Essential gene?

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

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35131505-35184222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35167998 bp (GRCm39)

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
Adam18	T	G	8: 25,137,799 (GRCm39)		probably null	Het
Adgb	A	T	10: 10,318,409 (GRCm39)	Y138*	probably null	Het
Adra1d	T	C	2: 131,388,092 (GRCm39)	R488G	possibly damaging	Het
Ahnak	G	A	19: 8,979,739 (GRCm39)	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,808,838 (GRCm39)	D690G	probably damaging	Het
Arhgef38	C	T	3: 132,838,225 (GRCm39)	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,857,155 (GRCm39)	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,167,314 (GRCm39)	H1062N	probably benign	Het
Bdnf	A	G	2: 109,554,139 (GRCm39)	H131R	probably damaging	Het
Cblb	C	T	16: 51,956,192 (GRCm39)	T265M	probably damaging	Het
Cenpe	T	A	3: 134,945,519 (GRCm39)	M1011K	probably benign	Het
Clca3a2	A	T	3: 144,781,410 (GRCm39)	Y711*	probably null	Het
Clca4a	A	G	3: 144,658,690 (GRCm39)	Y842H	probably benign	Het
Clspn	T	A	4: 126,475,310 (GRCm39)	M1021K	probably benign	Het
Cpne8	G	T	15: 90,503,845 (GRCm39)	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Dsp	T	C	13: 38,359,123 (GRCm39)	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553 (GRCm39)	K858R	probably null	Het
Fasn	A	T	11: 120,704,075 (GRCm39)	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,659,331 (GRCm39)	I322T	probably benign	Het
Gins2	T	C	8: 121,308,939 (GRCm39)	D105G	probably damaging	Het
Insr	A	T	8: 3,215,576 (GRCm39)	D975E	probably benign	Het
Klrc3	T	C	6: 129,616,510 (GRCm39)	D169G	probably benign	Het
Krt76	T	A	15: 101,793,443 (GRCm39)	S532C	unknown	Het
Lamp3	A	T	16: 19,492,275 (GRCm39)	M323K	probably damaging	Het
Lgmn	T	C	12: 102,360,868 (GRCm39)	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,508,538 (GRCm39)	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,063,373 (GRCm39)	I466N	probably damaging	Het
Magi3	A	C	3: 103,996,843 (GRCm39)	M234R	probably benign	Het
Myh14	G	A	7: 44,261,122 (GRCm39)	R1042*	probably null	Het
Nfia	T	G	4: 97,999,461 (GRCm39)	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,462,012 (GRCm39)	S383T	possibly damaging	Het
Or4f57	C	A	2: 111,790,585 (GRCm39)	V278F	probably benign	Het
Or52n4	T	A	7: 104,293,977 (GRCm39)	I199F	probably benign	Het
Or5b112	C	A	19: 13,319,539 (GRCm39)	P139Q	probably benign	Het
Or9s14	T	C	1: 92,535,676 (GRCm39)	L39P	probably damaging	Het
Osr1	G	A	12: 9,629,798 (GRCm39)		probably null	Het
Pde4b	A	C	4: 102,454,896 (GRCm39)	R375S	probably damaging	Het
Pde8a	A	G	7: 80,942,011 (GRCm39)	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,408,897 (GRCm39)		probably null	Het
Ppp3ca	A	G	3: 136,634,305 (GRCm39)	T422A	probably benign	Het
Proser1	T	C	3: 53,385,180 (GRCm39)	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,091,050 (GRCm39)	R127S	probably benign	Het
Sanbr	T	C	11: 23,539,971 (GRCm39)	K48E	probably damaging	Het
Secisbp2	A	G	13: 51,827,143 (GRCm39)	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 33,158,895 (GRCm39)	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,865,375 (GRCm39)	S487T	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Spag6	A	G	2: 18,737,925 (GRCm39)	D265G	probably benign	Het
Spata31e2	T	C	1: 26,724,950 (GRCm39)	T77A	probably benign	Het
Sybu	G	T	15: 44,582,228 (GRCm39)	S132*	probably null	Het
Virma	T	C	4: 11,528,776 (GRCm39)	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 21,035,067 (GRCm39)	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358 (GRCm39)	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,289,010 (GRCm39)	V164I	probably benign	Het
Wfdc13	G	T	2: 164,528,854 (GRCm39)	A64S	probably damaging	Het
Zfp873	C	A	10: 81,896,113 (GRCm39)	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,040,843 (GRCm39)		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
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
R5986:Sec22a	UTSW	16	35,134,461 (GRCm39)	missense	probably damaging	1.00
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'- AGTTTCATCCTGTCCCAACTGTCAAG -3'
(R):5'- TCATTCAGAGGACCAAGCAGCG -3'

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

Posted On

2014-04-24