Incidental Mutation 'R4576:Sec16a'
ID 342440
Institutional Source Beutler Lab
Gene Symbol Sec16a
Ensembl Gene ENSMUSG00000026924
Gene Name SEC16 homolog A, endoplasmic reticulum export factor
Synonyms C230052J16Rik
MMRRC Submission 041799-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R4576 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26299443-26335228 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 26321131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1320 (Y1320*)
Ref Sequence ENSEMBL: ENSMUSP00000109716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091252] [ENSMUST00000114082]
AlphaFold E9QAT4
Predicted Effect probably null
Transcript: ENSMUST00000091252
AA Change: Y1320*
SMART Domains Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: Y1320*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000114082
AA Change: Y1320*
SMART Domains Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: Y1320*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000156442
SMART Domains Protein: ENSMUSP00000122255
Gene: ENSMUSG00000026924

DomainStartEndE-ValueType
Pfam:Sec16 14 114 7.7e-11 PFAM
low complexity region 150 164 N/A INTRINSIC
Pfam:Sec16_C 186 438 1.6e-45 PFAM
low complexity region 659 674 N/A INTRINSIC
low complexity region 715 727 N/A INTRINSIC
low complexity region 737 747 N/A INTRINSIC
low complexity region 777 792 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (84/86)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,623,979 (GRCm39) D160V probably damaging Het
Ano9 T C 7: 140,684,051 (GRCm39) Q538R probably damaging Het
Atp4a A G 7: 30,417,147 (GRCm39) D510G probably benign Het
Atp8a1 T C 5: 67,973,158 (GRCm39) probably benign Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
C7 A G 15: 5,032,238 (GRCm39) S658P probably damaging Het
Cdh9 T C 15: 16,832,325 (GRCm39) V404A possibly damaging Het
Cfap54 C T 10: 92,879,090 (GRCm39) probably null Het
Chml G T 1: 175,514,506 (GRCm39) Q129K probably damaging Het
Chst2 T C 9: 95,287,224 (GRCm39) H374R probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cirbp A G 10: 80,006,075 (GRCm39) K84E probably damaging Het
Cln6 G T 9: 62,746,231 (GRCm39) Q23H probably benign Het
Cntn5 A G 9: 9,673,297 (GRCm39) M801T probably benign Het
Dapk1 A T 13: 60,869,636 (GRCm39) M293L probably benign Het
Ddx11 A G 17: 66,457,721 (GRCm39) K869E probably damaging Het
Ddx17 A T 15: 79,425,347 (GRCm39) M108K probably benign Het
Dnaaf5 C A 5: 139,171,394 (GRCm39) A557D probably damaging Het
Ecpas A T 4: 58,834,708 (GRCm39) probably benign Het
Edil3 T C 13: 89,467,850 (GRCm39) Y452H probably damaging Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Enah G A 1: 181,747,128 (GRCm39) S298L possibly damaging Het
Exoc7 T C 11: 116,180,009 (GRCm39) *685W probably null Het
Fgfbp1 C T 5: 44,136,806 (GRCm39) R162H probably benign Het
Foxj3 A G 4: 119,478,860 (GRCm39) S439G unknown Het
Fzd9 A G 5: 135,279,166 (GRCm39) S240P probably damaging Het
Gin1 A G 1: 97,720,064 (GRCm39) D442G probably damaging Het
Gm10804 C T 2: 93,299,014 (GRCm39) noncoding transcript Het
Grhl3 G T 4: 135,288,562 (GRCm39) T41K probably damaging Het
H6pd A T 4: 150,078,933 (GRCm39) D243E probably damaging Het
Heatr6 T A 11: 83,655,826 (GRCm39) S306T probably benign Het
Hkdc1 T C 10: 62,221,622 (GRCm39) D812G possibly damaging Het
Hmcn1 G T 1: 150,610,238 (GRCm39) T1477K probably benign Het
Ift80 A G 3: 68,857,863 (GRCm39) S261P possibly damaging Het
Kcnu1 A T 8: 26,380,048 (GRCm39) D424V probably benign Het
Kctd1 A G 18: 15,140,757 (GRCm39) S658P probably damaging Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Llph-ps2 A G X: 13,084,690 (GRCm39) noncoding transcript Het
Lpxn T C 19: 12,810,654 (GRCm39) I366T probably benign Het
Lrp1 ACAGGCGC AC 10: 127,376,057 (GRCm39) probably benign Het
Maml3 G A 3: 51,763,927 (GRCm39) Q346* probably null Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mlc1 G A 15: 88,858,740 (GRCm39) T136M probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Pcdhga9 A C 18: 37,870,881 (GRCm39) N237H probably damaging Het
Pde4dip C A 3: 97,661,565 (GRCm39) E657D probably damaging Het
Pknox2 A G 9: 36,834,844 (GRCm39) probably benign Het
Plcb3 C T 19: 6,936,415 (GRCm39) probably benign Het
Plxnd1 G A 6: 115,945,005 (GRCm39) A99V probably benign Het
Pnpla2 T C 7: 141,037,257 (GRCm39) S87P probably damaging Het
Ppp1r14c G T 10: 3,316,912 (GRCm39) K82N probably damaging Het
Pum3 G A 19: 27,393,308 (GRCm39) T389M probably benign Het
Pxdn A T 12: 30,061,922 (GRCm39) T1165S probably benign Het
Rasgrf2 T C 13: 92,044,529 (GRCm39) D925G possibly damaging Het
Samhd1 A T 2: 156,943,670 (GRCm39) C615S probably damaging Het
Slco6b1 T A 1: 96,916,422 (GRCm39) noncoding transcript Het
Slitrk6 C A 14: 110,987,602 (GRCm39) V702F probably benign Het
Spata31d1b C A 13: 59,864,675 (GRCm39) H608N probably damaging Het
Spef1l A G 7: 139,558,043 (GRCm39) I51T probably damaging Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Tacc3 T A 5: 33,818,841 (GRCm39) probably benign Het
Tango2 A T 16: 18,119,392 (GRCm39) D146E probably damaging Het
Thbs1 G A 2: 117,949,897 (GRCm39) R624Q probably damaging Het
Tmem161a T C 8: 70,634,713 (GRCm39) probably null Het
Tmem175 A G 5: 108,792,468 (GRCm39) D248G possibly damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Trip11 G A 12: 101,852,499 (GRCm39) Q521* probably null Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Ttc16 A T 2: 32,660,071 (GRCm39) F246I probably benign Het
Unc79 T C 12: 102,968,062 (GRCm39) probably benign Het
Vmn1r74 A G 7: 11,580,696 (GRCm39) probably null Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Zc3h4 G A 7: 16,168,579 (GRCm39) R896H unknown Het
Zfp941 T A 7: 140,391,503 (GRCm39) K619* probably null Het
Zfp970 A T 2: 177,167,473 (GRCm39) H349L probably damaging Het
Other mutations in Sec16a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GAAATACGTTTGAGCCAGTCC -3'
(R):5'- AGTCCAGGCCTGTCCTTTAC -3'

Sequencing Primer
(F):5'- AATACGTTTGAGCCAGTCCTAGGTG -3'
(R):5'- AGGCCTGTCCTTTACTCCTACG -3'
Posted On 2015-09-24