Mutagenetix > Incidental Mutation

Incidental Mutation 'R5391:Sec16a'

425831

Institutional Source

Beutler Lab

Gene Symbol

Sec16a

Ensembl Gene

ENSMUSG00000026924

Gene Name

SEC16 homolog A, endoplasmic reticulum export factor

Synonyms

C230052J16Rik

MMRRC Submission

042963-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5391 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26299443-26335228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26330044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 657 (V657A)

Ref Sequence

ENSEMBL: ENSMUSP00000088796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091252] [ENSMUST00000114082]

AlphaFold

E9QAT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091252
AA Change: V657A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: V657A

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	204	221	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	537	561	N/A	INTRINSIC
low complexity region	608	621	N/A	INTRINSIC
low complexity region	760	777	N/A	INTRINSIC
low complexity region	1096	1105	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1370	1392	N/A	INTRINSIC
Pfam:Sec16	1463	1565	3.1e-24	PFAM
low complexity region	1600	1614	N/A	INTRINSIC
Pfam:Sec16_C	1635	1898	2.3e-39	PFAM
low complexity region	2109	2124	N/A	INTRINSIC
low complexity region	2165	2177	N/A	INTRINSIC
low complexity region	2187	2197	N/A	INTRINSIC
low complexity region	2227	2242	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114082
AA Change: V657A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: V657A

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	204	221	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	537	561	N/A	INTRINSIC
low complexity region	608	621	N/A	INTRINSIC
low complexity region	760	777	N/A	INTRINSIC
low complexity region	1096	1105	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1370	1392	N/A	INTRINSIC
Pfam:Sec16	1464	1564	2.6e-10	PFAM
low complexity region	1600	1614	N/A	INTRINSIC
Pfam:Sec16_C	1636	1887	6.8e-45	PFAM
low complexity region	2109	2124	N/A	INTRINSIC
low complexity region	2165	2177	N/A	INTRINSIC
low complexity region	2187	2197	N/A	INTRINSIC
low complexity region	2227	2242	N/A	INTRINSIC
low complexity region	2310	2320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153996

SMART Domains

Protein: ENSMUSP00000121179
Gene: ENSMUSG00000026924

Domain	Start	End	E-Value	Type
low complexity region	12	29	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
low complexity region	154	170	N/A	INTRINSIC
low complexity region	205	215	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155252

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,855,481 (GRCm39)	M38I	probably null	Het
Actl7a	A	G	4: 56,743,661 (GRCm39)	T63A	probably benign	Het
Amfr	G	A	8: 94,702,676 (GRCm39)	P497S	probably damaging	Het
Ankrd33b	T	C	15: 31,325,352 (GRCm39)	I122V	probably damaging	Het
Asap1	G	T	15: 63,965,901 (GRCm39)	T1011K	possibly damaging	Het
Cbfa2t3	G	A	8: 123,360,134 (GRCm39)	R506*	probably null	Het
Ccs	C	G	19: 4,883,510 (GRCm39)	C96S	probably benign	Het
Cpt1a	A	G	19: 3,399,260 (GRCm39)	D20G	probably damaging	Het
Ctdspl2	G	A	2: 121,834,629 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,510 (GRCm39)	Y365C	probably damaging	Het
Dnah3	C	T	7: 119,689,299 (GRCm39)	M38I	probably benign	Het
Dnajc6	T	C	4: 101,485,355 (GRCm39)		probably null	Het
Elac2	A	G	11: 64,885,120 (GRCm39)	S450G	probably benign	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Il12rb2	T	C	6: 67,269,404 (GRCm39)	N803S	probably benign	Het
Itgb4	T	A	11: 115,875,894 (GRCm39)	M477K	probably benign	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Krt78	C	A	15: 101,860,263 (GRCm39)	E218*	probably null	Het
Lpar1	A	G	4: 58,486,902 (GRCm39)	L105P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Mov10	G	A	3: 104,709,849 (GRCm39)	H346Y	probably benign	Het
Nfia	A	G	4: 97,671,538 (GRCm39)	I83V	probably damaging	Het
Or5b101	G	T	19: 13,005,150 (GRCm39)	A181E	probably damaging	Het
Or6d15	T	C	6: 116,559,808 (GRCm39)	Y33C	probably damaging	Het
Pcdhgb6	T	G	18: 37,875,640 (GRCm39)	I116S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,586 (GRCm39)	Q133K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Pik3cd	A	T	4: 149,743,588 (GRCm39)	V207E	probably damaging	Het
Ptov1	T	C	7: 44,513,008 (GRCm39)	Q397R	probably damaging	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rasl12	G	T	9: 65,305,949 (GRCm39)	A35S	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Tbce	T	C	13: 14,180,550 (GRCm39)	I293M	probably damaging	Het
Tektl1	G	A	10: 78,588,688 (GRCm39)	Q41*	probably null	Het
Tmem176a	T	C	6: 48,821,630 (GRCm39)	L204P	probably damaging	Het
Tmem87a	A	G	2: 120,193,358 (GRCm39)		probably null	Het
Tns1	A	T	1: 74,029,568 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,037,826 (GRCm39)	S769T	probably benign	Het
Vmn2r82	A	G	10: 79,192,491 (GRCm39)	T23A	probably null	Het
Vps26a	A	G	10: 62,292,526 (GRCm39)	*328Q	probably null	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wwc2	A	T	8: 48,316,906 (GRCm39)	I729K	unknown	Het
Zbtb44	A	G	9: 30,964,601 (GRCm39)		probably null	Het
Zfp800	A	T	6: 28,242,992 (GRCm39)	S658T	probably damaging	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zfp935	G	T	13: 62,602,632 (GRCm39)	Y189*	probably null	Het
Zkscan1	T	A	5: 138,095,363 (GRCm39)	H203Q	probably benign	Het
Zkscan14	T	C	5: 145,132,604 (GRCm39)	D309G	probably benign	Het

Other mutations in Sec16a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Sec16a	APN	2	26,329,499 (GRCm39)	missense	probably benign	0.15
IGL00435:Sec16a	APN	2	26,320,113 (GRCm39)	missense	probably benign	0.00
IGL00469:Sec16a	APN	2	26,318,312 (GRCm39)	missense	probably damaging	1.00
IGL01622:Sec16a	APN	2	26,328,915 (GRCm39)	missense	probably benign	0.00
IGL01623:Sec16a	APN	2	26,328,915 (GRCm39)	missense	probably benign	0.00
IGL02158:Sec16a	APN	2	26,306,644 (GRCm39)	critical splice donor site	probably null
IGL02188:Sec16a	APN	2	26,326,020 (GRCm39)	missense	probably damaging	1.00
IGL02445:Sec16a	APN	2	26,312,052 (GRCm39)	missense	probably benign
IGL02568:Sec16a	APN	2	26,326,054 (GRCm39)	missense	probably damaging	1.00
IGL02710:Sec16a	APN	2	26,320,142 (GRCm39)	missense	possibly damaging	0.75
IGL02735:Sec16a	APN	2	26,318,149 (GRCm39)	splice site	probably benign
IGL02964:Sec16a	APN	2	26,309,735 (GRCm39)	missense	probably benign	0.00
IGL03027:Sec16a	APN	2	26,313,601 (GRCm39)	missense	probably benign	0.13
IGL03073:Sec16a	APN	2	26,329,195 (GRCm39)	missense	probably benign	0.02
IGL03297:Sec16a	APN	2	26,329,202 (GRCm39)	missense	probably benign	0.05
IGL03339:Sec16a	APN	2	26,325,945 (GRCm39)	missense	probably benign
H8562:Sec16a	UTSW	2	26,331,517 (GRCm39)	missense	probably benign
IGL03050:Sec16a	UTSW	2	26,305,759 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Sec16a	UTSW	2	26,315,785 (GRCm39)	missense
R0039:Sec16a	UTSW	2	26,313,926 (GRCm39)	missense	probably benign	0.03
R0095:Sec16a	UTSW	2	26,315,772 (GRCm39)	splice site	probably null
R0095:Sec16a	UTSW	2	26,315,772 (GRCm39)	splice site	probably null
R0189:Sec16a	UTSW	2	26,314,426 (GRCm39)	splice site	probably null
R0255:Sec16a	UTSW	2	26,321,198 (GRCm39)	missense	probably damaging	0.97
R0278:Sec16a	UTSW	2	26,318,328 (GRCm39)	missense	probably damaging	1.00
R0739:Sec16a	UTSW	2	26,331,063 (GRCm39)	missense	possibly damaging	0.94
R0743:Sec16a	UTSW	2	26,309,734 (GRCm39)	missense	possibly damaging	0.67
R1446:Sec16a	UTSW	2	26,313,579 (GRCm39)	missense	probably benign	0.00
R1466:Sec16a	UTSW	2	26,321,169 (GRCm39)	missense	probably damaging	0.98
R1466:Sec16a	UTSW	2	26,321,169 (GRCm39)	missense	probably damaging	0.98
R1501:Sec16a	UTSW	2	26,330,057 (GRCm39)	missense	probably benign	0.16
R1524:Sec16a	UTSW	2	26,318,394 (GRCm39)	missense	probably damaging	1.00
R1584:Sec16a	UTSW	2	26,321,169 (GRCm39)	missense	probably damaging	0.98
R1649:Sec16a	UTSW	2	26,315,536 (GRCm39)	missense	probably damaging	1.00
R1744:Sec16a	UTSW	2	26,329,198 (GRCm39)	missense	probably damaging	1.00
R1959:Sec16a	UTSW	2	26,320,144 (GRCm39)	missense	probably benign	0.00
R1973:Sec16a	UTSW	2	26,316,501 (GRCm39)	missense	probably damaging	1.00
R2005:Sec16a	UTSW	2	26,329,092 (GRCm39)	missense	probably benign	0.27
R2073:Sec16a	UTSW	2	26,330,251 (GRCm39)	missense	probably damaging	1.00
R2074:Sec16a	UTSW	2	26,330,251 (GRCm39)	missense	probably damaging	1.00
R2075:Sec16a	UTSW	2	26,330,251 (GRCm39)	missense	probably damaging	1.00
R2151:Sec16a	UTSW	2	26,303,757 (GRCm39)	intron	probably benign
R2472:Sec16a	UTSW	2	26,329,948 (GRCm39)	missense	probably damaging	1.00
R2512:Sec16a	UTSW	2	26,329,037 (GRCm39)	missense	probably benign	0.00
R2520:Sec16a	UTSW	2	26,331,368 (GRCm39)	nonsense	probably null
R2571:Sec16a	UTSW	2	26,329,343 (GRCm39)	missense	probably benign	0.08
R3105:Sec16a	UTSW	2	26,328,433 (GRCm39)	missense	probably benign	0.14
R3508:Sec16a	UTSW	2	26,315,862 (GRCm39)	missense	probably damaging	1.00
R3809:Sec16a	UTSW	2	26,331,825 (GRCm39)	missense	possibly damaging	0.71
R3912:Sec16a	UTSW	2	26,304,399 (GRCm39)	missense	probably damaging	0.97
R4292:Sec16a	UTSW	2	26,312,167 (GRCm39)	missense	probably benign	0.01
R4293:Sec16a	UTSW	2	26,312,167 (GRCm39)	missense	probably benign	0.01
R4294:Sec16a	UTSW	2	26,312,167 (GRCm39)	missense	probably benign	0.01
R4576:Sec16a	UTSW	2	26,321,131 (GRCm39)	nonsense	probably null
R4611:Sec16a	UTSW	2	26,331,817 (GRCm39)	missense	probably benign	0.04
R4627:Sec16a	UTSW	2	26,321,080 (GRCm39)	splice site	probably null
R4627:Sec16a	UTSW	2	26,319,405 (GRCm39)	missense	probably damaging	1.00
R4662:Sec16a	UTSW	2	26,320,582 (GRCm39)	missense	probably damaging	1.00
R4665:Sec16a	UTSW	2	26,302,970 (GRCm39)	intron	probably benign
R4906:Sec16a	UTSW	2	26,331,979 (GRCm39)	unclassified	probably benign
R4967:Sec16a	UTSW	2	26,302,883 (GRCm39)	missense	probably benign	0.00
R4983:Sec16a	UTSW	2	26,329,531 (GRCm39)	missense	probably benign
R5033:Sec16a	UTSW	2	26,309,661 (GRCm39)	missense	probably benign	0.00
R5251:Sec16a	UTSW	2	26,329,357 (GRCm39)	missense	probably benign	0.00
R5457:Sec16a	UTSW	2	26,330,280 (GRCm39)	missense	probably benign	0.01
R5530:Sec16a	UTSW	2	26,329,264 (GRCm39)	missense	probably benign	0.00
R5645:Sec16a	UTSW	2	26,329,907 (GRCm39)	missense	probably benign	0.01
R5661:Sec16a	UTSW	2	26,329,649 (GRCm39)	missense	probably benign	0.01
R5770:Sec16a	UTSW	2	26,304,402 (GRCm39)	missense	probably damaging	0.99
R5830:Sec16a	UTSW	2	26,330,853 (GRCm39)	missense	probably benign	0.15
R5866:Sec16a	UTSW	2	26,309,650 (GRCm39)	missense	probably benign	0.00
R5875:Sec16a	UTSW	2	26,323,379 (GRCm39)	missense	probably damaging	1.00
R5906:Sec16a	UTSW	2	26,328,843 (GRCm39)	missense	possibly damaging	0.63
R5922:Sec16a	UTSW	2	26,305,651 (GRCm39)	missense	probably benign	0.05
R6076:Sec16a	UTSW	2	26,313,954 (GRCm39)	missense	probably damaging	1.00
R6091:Sec16a	UTSW	2	26,316,482 (GRCm39)	missense	probably damaging	1.00
R6295:Sec16a	UTSW	2	26,318,253 (GRCm39)	missense	probably damaging	1.00
R6302:Sec16a	UTSW	2	26,315,817 (GRCm39)	missense	probably damaging	1.00
R6309:Sec16a	UTSW	2	26,328,583 (GRCm39)	missense	probably benign	0.00
R6459:Sec16a	UTSW	2	26,313,512 (GRCm39)	missense	probably benign	0.04
R6520:Sec16a	UTSW	2	26,316,118 (GRCm39)	missense	probably damaging	1.00
R6631:Sec16a	UTSW	2	26,329,969 (GRCm39)	missense	probably damaging	1.00
R6657:Sec16a	UTSW	2	26,315,876 (GRCm39)	nonsense	probably null
R6750:Sec16a	UTSW	2	26,330,030 (GRCm39)	missense	probably benign	0.00
R6852:Sec16a	UTSW	2	26,331,431 (GRCm39)	missense	probably damaging	0.99
R6860:Sec16a	UTSW	2	26,320,124 (GRCm39)	missense	probably damaging	1.00
R6967:Sec16a	UTSW	2	26,320,498 (GRCm39)	missense	probably damaging	1.00
R6968:Sec16a	UTSW	2	26,320,498 (GRCm39)	missense	probably damaging	1.00
R6970:Sec16a	UTSW	2	26,320,498 (GRCm39)	missense	probably damaging	1.00
R6991:Sec16a	UTSW	2	26,320,498 (GRCm39)	missense	probably damaging	1.00
R6993:Sec16a	UTSW	2	26,313,586 (GRCm39)	missense	probably damaging	0.99
R7009:Sec16a	UTSW	2	26,326,014 (GRCm39)	nonsense	probably null
R7057:Sec16a	UTSW	2	26,315,277 (GRCm39)	missense	probably damaging	1.00
R7186:Sec16a	UTSW	2	26,330,715 (GRCm39)	nonsense	probably null
R7227:Sec16a	UTSW	2	26,328,935 (GRCm39)	missense	probably benign	0.01
R7234:Sec16a	UTSW	2	26,329,780 (GRCm39)	missense	probably damaging	1.00
R7259:Sec16a	UTSW	2	26,331,604 (GRCm39)	missense	probably benign	0.00
R7326:Sec16a	UTSW	2	26,329,729 (GRCm39)	missense	unknown
R7371:Sec16a	UTSW	2	26,331,734 (GRCm39)	missense	probably benign
R7388:Sec16a	UTSW	2	26,318,376 (GRCm39)	missense
R7414:Sec16a	UTSW	2	26,313,643 (GRCm39)	missense
R7417:Sec16a	UTSW	2	26,311,409 (GRCm39)	missense
R7501:Sec16a	UTSW	2	26,331,863 (GRCm39)	missense	probably damaging	1.00
R7558:Sec16a	UTSW	2	26,329,746 (GRCm39)	missense
R7696:Sec16a	UTSW	2	26,305,645 (GRCm39)	critical splice donor site	probably null
R7981:Sec16a	UTSW	2	26,311,384 (GRCm39)	critical splice donor site	probably null
R8117:Sec16a	UTSW	2	26,331,441 (GRCm39)	missense	probably benign	0.00
R8131:Sec16a	UTSW	2	26,300,958 (GRCm39)	missense
R8163:Sec16a	UTSW	2	26,306,433 (GRCm39)	missense
R8825:Sec16a	UTSW	2	26,313,586 (GRCm39)	missense
R8855:Sec16a	UTSW	2	26,329,852 (GRCm39)	missense	probably benign	0.16
R9165:Sec16a	UTSW	2	26,313,645 (GRCm39)	missense
R9216:Sec16a	UTSW	2	26,304,401 (GRCm39)	missense
R9283:Sec16a	UTSW	2	26,313,904 (GRCm39)	missense
R9506:Sec16a	UTSW	2	26,319,384 (GRCm39)	critical splice donor site	probably null
R9581:Sec16a	UTSW	2	26,328,647 (GRCm39)	missense
R9772:Sec16a	UTSW	2	26,329,417 (GRCm39)	missense	possibly damaging	0.87
X0011:Sec16a	UTSW	2	26,305,655 (GRCm39)	missense	probably damaging	1.00
X0034:Sec16a	UTSW	2	26,306,709 (GRCm39)	missense	probably benign	0.07
X0062:Sec16a	UTSW	2	26,306,709 (GRCm39)	missense	probably benign	0.07
Z1088:Sec16a	UTSW	2	26,329,105 (GRCm39)	missense	probably damaging	0.99
Z1176:Sec16a	UTSW	2	26,328,760 (GRCm39)	missense
Z1177:Sec16a	UTSW	2	26,329,333 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTCTCACACTTCACAGGTC -3'
(R):5'- TGACTGGGAGCCAAAATTGC -3'

Sequencing Primer
(F):5'- ACAGTATCCAGGGGTGTCC -3'
(R):5'- GAGCCAAAATTGCTGCAGC -3'

Posted On

2016-08-04