Mutagenetix > Incidental Mutation

Incidental Mutation 'R7623:Sec22a'

589288

Institutional Source

Beutler Lab

Gene Symbol

Sec22a

Ensembl Gene

ENSMUSG00000034473

Gene Name

SEC22 homolog A, vesicle trafficking protein

Synonyms

1810005C06Rik, Sec22l2

MMRRC Submission

045718-MU

Accession Numbers

Essential gene?

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

Stock #

R7623 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35131505-35184222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35149894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 211 (F211L)

Ref Sequence

ENSEMBL: ENSMUSP00000039568 (fasta)

Gene Model

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

AlphaFold

Q8BH47

Predicted Effect

probably benign
Transcript: ENSMUST00000043521
AA Change: F211L

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: F211L

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

possibly damaging
Transcript: ENSMUST00000232420
AA Change: F211L

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	G	T	16: 21,513,092 (GRCm39)	L22M	probably damaging	Het
Abca9	T	C	11: 109,998,384 (GRCm39)	N1468S	probably benign	Het
Abcc5	C	T	16: 20,163,446 (GRCm39)	D1264N	possibly damaging	Het
Abhd10	A	G	16: 45,553,099 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,901,569 (GRCm39)	A570E	probably damaging	Het
Adgrb3	T	A	1: 25,586,629 (GRCm39)	S355C	probably damaging	Het
Adgrv1	A	G	13: 81,570,344 (GRCm39)	V4953A	possibly damaging	Het
Ano2	T	A	6: 125,992,536 (GRCm39)	Y836*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc8	T	A	7: 16,730,537 (GRCm39)	D675E	possibly damaging	Het
Ccnb2	A	G	9: 70,326,170 (GRCm39)	V58A	probably benign	Het
Cdcp3	T	A	7: 130,879,295 (GRCm39)		probably null	Het
Cdh24	A	T	14: 54,875,547 (GRCm39)	Y296N	probably damaging	Het
Cfap46	T	C	7: 139,198,266 (GRCm39)	E2054G	unknown	Het
Cnot1	A	T	8: 96,454,276 (GRCm39)	F2067I	probably damaging	Het
Csmd3	A	G	15: 47,813,334 (GRCm39)	F329S		Het
Dact3	C	A	7: 16,619,840 (GRCm39)	T445K	unknown	Het
Dph6	C	A	2: 114,485,379 (GRCm39)		probably benign	Het
Dst	T	A	1: 34,209,517 (GRCm39)	C1195S	probably damaging	Het
Eeig1	A	G	2: 32,456,346 (GRCm39)	D336G	possibly damaging	Het
Fat3	T	A	9: 15,899,620 (GRCm39)	N3138Y	probably damaging	Het
Fbxw25	T	C	9: 109,483,651 (GRCm39)	N187S		Het
Fuca1	A	G	4: 135,660,405 (GRCm39)	I308V	probably benign	Het
Galnt5	A	G	2: 57,907,222 (GRCm39)	R562G	probably damaging	Het
Gas8	G	T	8: 124,249,718 (GRCm39)	R44S	probably damaging	Het
Gja5	T	C	3: 96,958,071 (GRCm39)	S43P	possibly damaging	Het
Gm14403	A	G	2: 177,200,405 (GRCm39)	D117G	probably benign	Het
Gmpr2	G	A	14: 55,910,491 (GRCm39)	V58M	probably damaging	Het
Gtpbp6	T	A	5: 110,252,950 (GRCm39)	I301F	probably damaging	Het
H2bc22	T	A	13: 21,971,762 (GRCm39)	D26E	probably benign	Het
Hdhd5	T	C	6: 120,498,212 (GRCm39)	Y129C	probably damaging	Het
Hemgn	A	G	4: 46,396,504 (GRCm39)	M244T	probably benign	Het
Hoxa1	T	G	6: 52,135,238 (GRCm39)		probably null	Het
Iglc1	T	A	16: 18,880,551 (GRCm39)	H90L		Het
Lamb2	C	T	9: 108,366,423 (GRCm39)	S1545F	possibly damaging	Het
Mc4r	T	C	18: 66,992,580 (GRCm39)	T178A	probably benign	Het
Mcam	T	A	9: 44,050,955 (GRCm39)	S346T	probably benign	Het
Mis18bp1	A	G	12: 65,195,626 (GRCm39)	S713P	probably benign	Het
Mybl2	A	G	2: 162,914,752 (GRCm39)	Y290C	probably damaging	Het
Or4k44	T	C	2: 111,368,281 (GRCm39)	M118V	probably damaging	Het
Or7e168	A	T	9: 19,720,225 (GRCm39)	I204F	possibly damaging	Het
Pak6	A	G	2: 118,525,068 (GRCm39)	T565A	probably damaging	Het
Pde5a	A	G	3: 122,568,250 (GRCm39)	T284A	probably benign	Het
Pkd1l2	A	T	8: 117,756,384 (GRCm39)	F1616Y	probably damaging	Het
Pp2d1	T	C	17: 53,822,907 (GRCm39)	E53G	probably benign	Het
Ppp3cc	A	C	14: 70,478,394 (GRCm39)	S269R	probably benign	Het
Ptprb	A	C	10: 116,205,214 (GRCm39)	D1856A	possibly damaging	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Rnf8	T	A	17: 29,847,980 (GRCm39)	V344E	probably benign	Het
Rpn1	T	C	6: 88,061,550 (GRCm39)	L13P	possibly damaging	Het
Rsbn1	A	T	3: 103,822,326 (GRCm39)	H187L	probably benign	Het
Sdr16c6	T	A	4: 4,058,801 (GRCm39)	I262F	not run	Het
Slc16a4	G	A	3: 107,205,297 (GRCm39)	A42T	possibly damaging	Het
Smap1	T	A	1: 23,887,376 (GRCm39)	Q386L	probably benign	Het
Sos1	A	T	17: 80,787,323 (GRCm39)	F10L	probably benign	Het
Sptbn2	A	G	19: 4,776,196 (GRCm39)	T202A	probably damaging	Het
Stab1	C	A	14: 30,862,578 (GRCm39)	V2282L	probably benign	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tmprss11f	C	T	5: 86,672,019 (GRCm39)	G391D	probably damaging	Het
Tnfaip2	A	G	12: 111,412,072 (GRCm39)	S158G	probably damaging	Het
Trav6d-5	A	G	14: 53,032,843 (GRCm39)	T31A	probably benign	Het
Tst	G	A	15: 78,289,903 (GRCm39)	A44V	probably damaging	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het
Vwc2	T	C	11: 11,066,415 (GRCm39)	F168L	probably damaging	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Zfp605	A	G	5: 110,275,386 (GRCm39)	Y168C	probably benign	Het
Zfp790	T	A	7: 29,525,130 (GRCm39)	Y49*	probably null	Het
Zfp93	T	C	7: 23,975,794 (GRCm39)	F593S	probably damaging	Het
Zfr	C	T	15: 12,160,614 (GRCm39)	T729I	possibly damaging	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
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
R7878:Sec22a	UTSW	16	35,168,005 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAACGTGCCAACCAGAAATATTC -3'
(R):5'- AGTTGAACAATGATTTTCTGTCCAC -3'

Sequencing Primer
(F):5'- CTGTATAACCCAAGCTGGACTGG -3'
(R):5'- GATTTTCTGTCCACATAAGCTCAG -3'

Posted On

2019-10-24