Mutagenetix > Incidental Mutation

Incidental Mutation 'R7234:Sec16a'

562676

Institutional Source

Beutler Lab

Gene Symbol

Sec16a

Ensembl Gene

ENSMUSG00000026924

Gene Name

SEC16 homolog A, endoplasmic reticulum export factor

Synonyms

C230052J16Rik

MMRRC Submission

045304-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26299443-26335228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26329780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 745 (T745K)

Ref Sequence

ENSEMBL: ENSMUSP00000109716 (fasta)

Gene Model

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

AlphaFold

E9QAT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000091252
AA Change: T745K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: T745K

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

probably damaging
Transcript: ENSMUST00000114082
AA Change: T745K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: T745K

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

Meta Mutation Damage Score

0.2146

Coding Region Coverage

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

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	T	A	19: 4,037,758 (GRCm39)	Y88*	probably null	Het
AI606181	T	A	19: 41,582,076 (GRCm39)	I82N	unknown	Het
Akap1	T	C	11: 88,729,808 (GRCm39)	Y638C	probably damaging	Het
Angpt1	T	C	15: 42,323,121 (GRCm39)	N383D	probably benign	Het
Ank	T	C	15: 27,571,742 (GRCm39)		probably null	Het
Aoc1	C	T	6: 48,882,750 (GRCm39)	Q209*	probably null	Het
Apol7c	A	T	15: 77,409,875 (GRCm39)	L357*	probably null	Het
Atxn2l	A	G	7: 126,092,373 (GRCm39)	L958P	probably damaging	Het
Cab39l	T	A	14: 59,734,395 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,295,024 (GRCm39)		probably null	Het
Cdkn3	T	C	14: 47,008,918 (GRCm39)	S204P	unknown	Het
Cds2	T	C	2: 132,146,400 (GRCm39)		probably null	Het
Cideb	C	T	14: 55,992,017 (GRCm39)	R179H	probably benign	Het
Cped1	A	G	6: 22,254,625 (GRCm39)	Q1006R	probably damaging	Het
Csmd2	A	G	4: 128,350,572 (GRCm39)	Y1547C		Het
Dicer1	A	G	12: 104,675,108 (GRCm39)	L718S	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dyrk2	T	C	10: 118,696,136 (GRCm39)	H374R	possibly damaging	Het
Edem2	A	T	2: 155,552,886 (GRCm39)	Y283N	probably benign	Het
Ero1b	A	T	13: 12,615,203 (GRCm39)	S345C	possibly damaging	Het
Fam83g	T	C	11: 61,593,342 (GRCm39)	V292A	possibly damaging	Het
Farp2	A	G	1: 93,507,841 (GRCm39)	D513G	possibly damaging	Het
Fbxl5	A	G	5: 43,915,562 (GRCm39)	W617R	probably benign	Het
Fzd7	G	A	1: 59,522,443 (GRCm39)	V109M	probably damaging	Het
Gbp5	A	T	3: 142,226,898 (GRCm39)	H583L	probably benign	Het
Gm10306	T	A	4: 94,445,032 (GRCm39)	L84M	unknown	Het
Gsap	A	G	5: 21,391,433 (GRCm39)	T25A	probably benign	Het
Hectd4	G	T	5: 121,467,136 (GRCm39)	R2466L	possibly damaging	Het
Ide	C	A	19: 37,268,184 (GRCm39)	C557F		Het
Ift70a2	A	T	2: 75,806,540 (GRCm39)	Y657*	probably null	Het
Igdcc4	T	A	9: 65,042,750 (GRCm39)	C1234*	probably null	Het
Ints4	A	G	7: 97,179,507 (GRCm39)	I701V	probably benign	Het
Kalrn	T	A	16: 33,996,792 (GRCm39)	I1467F	possibly damaging	Het
Kcnip3	C	A	2: 127,363,256 (GRCm39)	R2M	unknown	Het
Kcnrg	A	T	14: 61,845,531 (GRCm39)	E190D	unknown	Het
Klk13	T	C	7: 43,370,841 (GRCm39)	L131P	probably damaging	Het
Lhcgr	A	T	17: 89,099,359 (GRCm39)	L14Q	possibly damaging	Het
Mdm4	A	T	1: 132,938,853 (GRCm39)	D80E	probably damaging	Het
Mib2	G	T	4: 155,742,350 (GRCm39)	Q311K	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mycbp2	A	T	14: 103,452,773 (GRCm39)	S1703T	probably damaging	Het
Naip6	A	T	13: 100,452,011 (GRCm39)	C200*	probably null	Het
Ncapd3	T	A	9: 26,961,655 (GRCm39)	I361N	probably damaging	Het
Nom1	A	G	5: 29,640,451 (GRCm39)	E259G	probably benign	Het
Or10j5	T	A	1: 172,784,673 (GRCm39)	F104I	probably damaging	Het
Or51v14	A	G	7: 103,261,089 (GRCm39)	L157P	probably damaging	Het
Plxna2	A	T	1: 194,488,698 (GRCm39)	H1658L	probably damaging	Het
Ranbp6	T	C	19: 29,789,462 (GRCm39)	T297A	possibly damaging	Het
Rap1gap	T	A	4: 137,455,851 (GRCm39)	C722*	probably null	Het
Ribc2	A	G	15: 85,019,733 (GRCm39)	K172E	probably benign	Het
Scamp5	C	A	9: 57,354,423 (GRCm39)	W77L	probably damaging	Het
Scin	T	A	12: 40,130,957 (GRCm39)	K319*	probably null	Het
Slc15a2	G	A	16: 36,578,173 (GRCm39)	A403V	probably benign	Het
Slco6c1	A	G	1: 97,053,466 (GRCm39)	V145A	probably benign	Het
Sncaip	C	T	18: 53,048,416 (GRCm39)	H951Y	probably benign	Het
Spem1	A	G	11: 69,712,630 (GRCm39)		probably null	Het
Spen	C	T	4: 141,206,446 (GRCm39)	R727Q	unknown	Het
Thra	T	C	11: 98,654,544 (GRCm39)	S305P	probably damaging	Het
Tlr1	A	G	5: 65,084,067 (GRCm39)	V170A	probably damaging	Het
Tmem260	T	A	14: 48,742,786 (GRCm39)	C388*	probably null	Het
Tmem60	T	A	5: 21,091,619 (GRCm39)	V128D	possibly damaging	Het
Tpo	G	A	12: 30,142,685 (GRCm39)	P680S	probably benign	Het
Umodl1	A	G	17: 31,205,595 (GRCm39)	E730G	possibly damaging	Het
Vmn2r69	T	C	7: 85,056,315 (GRCm39)	T608A	probably benign	Het
Xrra1	G	A	7: 99,563,456 (GRCm39)	S481N	possibly damaging	Het
Zc3h4	G	A	7: 16,162,961 (GRCm39)	V446I	unknown	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
R5391:Sec16a	UTSW	2	26,330,044 (GRCm39)	missense	possibly damaging	0.82
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
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'- CTTGGTTCTGCAAAGGTGGC -3'
(R):5'- ACCACCTGATGCTACCTCAG -3'

Sequencing Primer
(F):5'- AGGTGGCACAGACCCTTGTTTC -3'
(R):5'- CCTGATGCTACCTCAGGAAAC -3'

Posted On

2019-06-26