Mutagenetix > Incidental Mutation

Incidental Mutation 'R7042:Sec22a'

547130

Institutional Source

Beutler Lab

Gene Symbol

Sec22a

Ensembl Gene

ENSMUSG00000034473

Gene Name

SEC22 homolog A, vesicle trafficking protein

Synonyms

1810005C06Rik, Sec22l2

MMRRC Submission

045141-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R7042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35131505-35184222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35149885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 214 (I214L)

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: I214L

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: I214L

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 benign
Transcript: ENSMUST00000232420
AA Change: I214L

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,192,098 (GRCm39)	S554G	possibly damaging	Het
Adcy7	G	T	8: 89,042,378 (GRCm39)	R415L	probably damaging	Het
Aox1	A	T	1: 58,141,759 (GRCm39)	I1182F	probably damaging	Het
Ccdc7b	T	A	8: 129,811,730 (GRCm39)	Y147N	probably benign	Het
Clcnka	A	G	4: 141,118,691 (GRCm39)	I398T	probably damaging	Het
Cst8	T	A	2: 148,641,796 (GRCm39)		probably null	Het
Dcxr	T	C	11: 120,617,841 (GRCm39)	D45G	possibly damaging	Het
Dhx38	A	T	8: 110,283,617 (GRCm39)	M510K	possibly damaging	Het
Dync2i1	T	C	12: 116,218,061 (GRCm39)	I182M	probably benign	Het
Ebf1	T	A	11: 44,882,338 (GRCm39)	H431Q	probably damaging	Het
Eml4	T	C	17: 83,768,999 (GRCm39)	I681T	probably damaging	Het
Etf1	T	C	18: 35,043,219 (GRCm39)	N164S	probably benign	Het
Fmo2	A	G	1: 162,708,226 (GRCm39)	V303A	probably damaging	Het
Foxl2	T	A	9: 98,837,715 (GRCm39)	M1K	probably null	Het
Gm3404	A	T	5: 146,462,969 (GRCm39)	E50D	probably benign	Het
Gpr61	G	A	3: 108,058,647 (GRCm39)	P5S	possibly damaging	Het
Hcrtr1	A	G	4: 130,024,653 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,017,828 (GRCm39)	F3I	possibly damaging	Het
Ifi206	G	A	1: 173,308,808 (GRCm39)	P396L		Het
Ifi209	G	A	1: 173,470,236 (GRCm39)	V275I	probably benign	Het
Ighv1-69	T	C	12: 115,586,909 (GRCm39)	S75G	probably benign	Het
Kcnj3	A	T	2: 55,484,877 (GRCm39)	H325L	possibly damaging	Het
Klrk1	A	T	6: 129,593,734 (GRCm39)	S50T	possibly damaging	Het
Mfsd4b4	T	A	10: 39,768,514 (GRCm39)	Y193F	probably damaging	Het
Nlrp5	A	G	7: 23,116,905 (GRCm39)	I210V	possibly damaging	Het
Or4p20	T	A	2: 88,253,746 (GRCm39)	I208F	possibly damaging	Het
Or5w12	A	T	2: 87,501,935 (GRCm39)	Y259N	possibly damaging	Het
Or8b3	G	T	9: 38,314,196 (GRCm39)	G6C	probably damaging	Het
Or8d23	A	G	9: 38,841,622 (GRCm39)	S52G	possibly damaging	Het
Pax6	A	T	2: 105,526,718 (GRCm39)	H208L	probably benign	Het
Pgc	C	A	17: 48,044,745 (GRCm39)	Q331K	probably benign	Het
Phldb1	A	G	9: 44,605,721 (GRCm39)	S370P	probably damaging	Het
Pi4k2a	T	C	19: 42,093,337 (GRCm39)	I226T	probably benign	Het
Pick1	T	C	15: 79,132,965 (GRCm39)	S342P	probably damaging	Het
Plscr1	A	G	9: 92,153,588 (GRCm39)	M312V	probably damaging	Het
Ppp3cc	T	G	14: 70,462,468 (GRCm39)	K399Q	probably benign	Het
Qpctl	T	C	7: 18,880,943 (GRCm39)	H163R	probably benign	Het
Rab11fip5	A	G	6: 85,351,110 (GRCm39)	V134A	possibly damaging	Het
Rasal1	T	A	5: 120,802,025 (GRCm39)		probably null	Het
Rem2	T	A	14: 54,715,548 (GRCm39)	I171N	probably damaging	Het
Setbp1	T	C	18: 79,130,070 (GRCm39)	D54G	probably damaging	Het
Slc27a2	C	T	2: 126,409,700 (GRCm39)	A294V	probably damaging	Het
Slfn14	T	A	11: 83,167,430 (GRCm39)	D695V	probably damaging	Het
Smc6	T	A	12: 11,359,301 (GRCm39)	I975K	probably damaging	Het
Spice1	T	C	16: 44,206,043 (GRCm39)	F835L	probably benign	Het
Tars2	A	T	3: 95,658,057 (GRCm39)	H222Q	probably benign	Het
Tmtc2	A	T	10: 105,206,477 (GRCm39)	F273I	probably damaging	Het
Ttc39d	C	A	17: 80,523,891 (GRCm39)	D183E	probably benign	Het
Vasp	A	G	7: 18,995,946 (GRCm39)	S128P	probably benign	Het
Vcpip1	A	G	1: 9,818,378 (GRCm39)	S2P	unknown	Het
Vmn2r98	T	C	17: 19,301,184 (GRCm39)	Y729H	probably benign	Het
Wdr18	A	T	10: 79,801,944 (GRCm39)	D243V	probably benign	Het
Xirp2	T	C	2: 67,343,633 (GRCm39)	V1958A	probably benign	Het
Zfp451	A	T	1: 33,816,474 (GRCm39)	M492K	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	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
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'- AGGAACGTGCCAACCAGAAATATTC -3'
(R):5'- TCTGTCCACATAAGCTCAGC -3'

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

Posted On

2019-05-13