Incidental Mutation 'R6970:Sec16a'
ID 542153
Institutional Source Beutler Lab
Gene Symbol Sec16a
Ensembl Gene ENSMUSG00000026924
Gene Name SEC16 homolog A, endoplasmic reticulum export factor
Synonyms C230052J16Rik
MMRRC Submission 045080-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R6970 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 26299443-26335228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26320498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1361 (R1361C)
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: R1361C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: R1361C

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 damaging
Transcript: ENSMUST00000114082
AA Change: R1361C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: R1361C

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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,036,044 (GRCm39) Y285H possibly damaging Het
Adam17 A G 12: 21,395,669 (GRCm39) S285P probably benign Het
Adcy10 A G 1: 165,384,485 (GRCm39) N1082S probably benign Het
Ahdc1 T A 4: 132,789,656 (GRCm39) L299Q possibly damaging Het
Ambra1 T A 2: 91,602,945 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Atp8a1 A G 5: 67,895,805 (GRCm39) V543A probably damaging Het
BC034090 T A 1: 155,117,185 (GRCm39) D311V probably damaging Het
Blnk G T 19: 40,950,821 (GRCm39) P110Q probably damaging Het
Cc2d2a A G 5: 43,875,927 (GRCm39) E968G probably damaging Het
Ccdc14 A T 16: 34,529,903 (GRCm39) E394V probably damaging Het
Ccdc162 A T 10: 41,491,954 (GRCm39) H1086Q probably benign Het
Ccdc85b T A 19: 5,507,248 (GRCm39) I60F probably damaging Het
Ceacam20 T A 7: 19,723,902 (GRCm39) L562Q probably damaging Het
Cntrl T C 2: 35,008,149 (GRCm39) F188L probably benign Het
Cplane1 T C 15: 8,217,032 (GRCm39) V750A probably benign Het
Dclk1 A T 3: 55,374,022 (GRCm39) probably benign Het
Ddx20 A T 3: 105,587,674 (GRCm39) L434H probably damaging Het
Ddx51 G A 5: 110,804,728 (GRCm39) V547M probably damaging Het
Dnah11 T A 12: 118,072,679 (GRCm39) Q1472L probably benign Het
Dnajb13 T C 7: 100,156,629 (GRCm39) E149G probably damaging Het
Efcab3 A G 11: 104,667,182 (GRCm39) E1422G probably benign Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,924 (GRCm39) N3192S probably damaging Het
Fat4 A T 3: 39,050,120 (GRCm39) D3994V probably damaging Het
Fcgr1 C A 3: 96,191,936 (GRCm39) probably null Het
Gm12185 G A 11: 48,798,739 (GRCm39) R585* probably null Het
Gm32687 A G 10: 81,715,304 (GRCm39) H232R probably benign Het
Gm5431 G T 11: 48,779,317 (GRCm39) A535D probably damaging Het
Jarid2 C T 13: 45,056,461 (GRCm39) P556S probably damaging Het
Map3k4 C A 17: 12,467,803 (GRCm39) G1077V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlxip A G 5: 123,583,735 (GRCm39) T433A possibly damaging Het
Ms4a20 A G 19: 11,089,678 (GRCm39) probably null Het
Mus81 G T 19: 5,535,554 (GRCm39) H199Q probably benign Het
Mylk3 G A 8: 86,085,892 (GRCm39) T54M probably damaging Het
Nalcn A G 14: 123,551,506 (GRCm39) F1034L possibly damaging Het
Nfatc1 A C 18: 80,710,228 (GRCm39) S513A probably benign Het
Ninj2 A G 6: 120,175,092 (GRCm39) I88V possibly damaging Het
Nomo1 C T 7: 45,695,391 (GRCm39) P277L probably damaging Het
Nup214 C T 2: 31,941,810 (GRCm39) S571L probably damaging Het
Or10g9b T A 9: 39,918,009 (GRCm39) M79L probably benign Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or9a7 T C 6: 40,521,590 (GRCm39) S108G probably benign Het
Pcdh15 C T 10: 74,338,519 (GRCm39) P1005S probably damaging Het
Pkhd1l1 G A 15: 44,375,070 (GRCm39) A942T possibly damaging Het
Plagl1 T C 10: 13,000,860 (GRCm39) C34R probably damaging Het
Plekha2 T C 8: 25,549,280 (GRCm39) Q168R probably benign Het
Plekha6 G A 1: 133,191,556 (GRCm39) A146T probably benign Het
Plekhm3 T G 1: 64,931,912 (GRCm39) K564T possibly damaging Het
Plpp2 A G 10: 79,366,380 (GRCm39) V26A possibly damaging Het
Prdm10 T G 9: 31,241,119 (GRCm39) Y302* probably null Het
Prdm8 A G 5: 98,332,471 (GRCm39) E124G probably damaging Het
Prg4 T G 1: 150,331,657 (GRCm39) probably benign Het
Qser1 A G 2: 104,618,475 (GRCm39) V779A probably benign Het
Rbm39 G A 2: 156,009,504 (GRCm39) R123C probably damaging Het
Ric1 C T 19: 29,565,172 (GRCm39) P640S probably damaging Het
Rpl14 G A 9: 120,403,293 (GRCm39) probably benign Het
Rsl1d1 T A 16: 11,011,558 (GRCm39) D382V probably benign Het
Rubcn G T 16: 32,688,514 (GRCm39) probably benign Het
Slc26a11 T G 11: 119,247,798 (GRCm39) V41G probably damaging Het
Slc41a2 A G 10: 83,151,960 (GRCm39) F172L possibly damaging Het
Slc4a4 A C 5: 89,327,690 (GRCm39) Y674S probably damaging Het
Spata31e3 A T 13: 50,401,007 (GRCm39) Y440N possibly damaging Het
Strc A C 2: 121,208,495 (GRCm39) M292R probably benign Het
Syde2 A G 3: 145,694,381 (GRCm39) T210A probably benign Het
Tcf7l2 C A 19: 55,743,480 (GRCm39) A97E probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tepsin G A 11: 119,986,190 (GRCm39) T168M probably damaging Het
Tex15 A T 8: 34,047,456 (GRCm39) M178L probably benign Het
Tgfbr2 T C 9: 115,939,119 (GRCm39) N236S probably damaging Het
Tnrc18 A G 5: 142,713,744 (GRCm39) V2531A probably damaging Het
Ttn T G 2: 76,725,767 (GRCm39) probably benign Het
Tubgcp3 G T 8: 12,687,000 (GRCm39) D630E probably damaging Het
Ubr4 G A 4: 139,133,839 (GRCm39) W745* probably null Het
Vmn2r115 G A 17: 23,564,989 (GRCm39) G292D probably benign Het
Vmn2r38 T A 7: 9,078,340 (GRCm39) K681* probably null Het
Xrcc6 A G 15: 81,915,375 (GRCm39) K98E probably benign Het
Zfp423 A G 8: 88,530,407 (GRCm39) V13A probably benign Het
Zfp512b A G 2: 181,228,141 (GRCm39) I5T possibly damaging Het
Zmynd8 C T 2: 165,717,670 (GRCm39) E14K 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
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
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'- TGAGTCCCCATGAACACCAG -3'
(R):5'- TGCAGCCTCAGAAAGTTCTTGG -3'

Sequencing Primer
(F):5'- CACCAGAAAGACTGTGGGTAC -3'
(R):5'- CAGCCTCAGAAAGTTCTTGGTAGTTG -3'
Posted On 2018-11-28