Incidental Mutation 'R4906:Sec16a'
ID 378160
Institutional Source Beutler Lab
Gene Symbol Sec16a
Ensembl Gene ENSMUSG00000026924
Gene Name SEC16 homolog A, endoplasmic reticulum export factor
Synonyms C230052J16Rik
MMRRC Submission 042508-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R4906 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26299443-26335228 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 26331979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000091252] [ENSMUST00000114082]
AlphaFold E9QAT4
Predicted Effect unknown
Transcript: ENSMUST00000091252
AA Change: V12E
SMART Domains Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: V12E

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 unknown
Transcript: ENSMUST00000114082
AA Change: V12E
SMART Domains Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: V12E

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 noncoding transcript
Transcript: ENSMUST00000133463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151521
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 noncoding transcript
Transcript: ENSMUST00000155252
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T C 7: 107,223,897 (GRCm39) probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adgrf2 T C 17: 43,022,084 (GRCm39) I247V probably benign Het
Adgrv1 A G 13: 81,418,857 (GRCm39) probably null Het
Ankrd22 T A 19: 34,126,752 (GRCm39) K26I possibly damaging Het
Arhgap32 T A 9: 32,156,552 (GRCm39) probably null Het
Armc10 A G 5: 21,866,522 (GRCm39) Y262C probably damaging Het
Arrb2 A G 11: 70,330,725 (GRCm39) D374G probably benign Het
Ascc3 C T 10: 50,625,227 (GRCm39) R1675C probably damaging Het
Atg5 T C 10: 44,239,046 (GRCm39) *276R probably null Het
Bcl11b G A 12: 107,882,968 (GRCm39) T377M probably damaging Het
C1s2 C A 6: 124,612,073 (GRCm39) E104* probably null Het
Carf A T 1: 60,180,526 (GRCm39) H316L probably damaging Het
Ccdc77 A T 6: 120,311,796 (GRCm39) I234N probably damaging Het
Cd300c2 A T 11: 114,887,826 (GRCm39) V192E possibly damaging Het
Cep72 G A 13: 74,207,584 (GRCm39) R62C probably damaging Het
Clasp1 T A 1: 118,436,640 (GRCm39) L308* probably null Het
Clec2g A G 6: 128,956,411 (GRCm39) S25G probably benign Het
Cngb1 T C 8: 95,978,601 (GRCm39) M1046V probably damaging Het
Cobll1 A T 2: 64,928,037 (GRCm39) D1095E probably benign Het
Cpeb2 A G 5: 43,402,005 (GRCm39) H662R possibly damaging Het
Cps1 A T 1: 67,178,922 (GRCm39) T45S probably benign Het
Cspp1 A G 1: 10,152,553 (GRCm39) Q368R possibly damaging Het
Dcaf6 C A 1: 165,239,032 (GRCm39) probably null Het
Dcst1 T C 3: 89,257,814 (GRCm39) Y652C possibly damaging Het
Elf5 T G 2: 103,279,918 (GRCm39) Y225* probably null Het
Ermap A C 4: 119,046,015 (GRCm39) probably benign Het
Fam186b A T 15: 99,169,202 (GRCm39) V915D probably damaging Het
Fbxo34 C A 14: 47,766,911 (GRCm39) N90K probably benign Het
Flnc A G 6: 29,447,524 (GRCm39) E1109G probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gabpb2 A G 3: 95,097,947 (GRCm39) V242A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm21798 A T 15: 64,689,732 (GRCm39) probably benign Het
Gpr179 A T 11: 97,237,487 (GRCm39) S345T possibly damaging Het
Gusb A T 5: 130,026,959 (GRCm39) F377L probably damaging Het
Hnrnpu T C 1: 178,156,938 (GRCm39) probably benign Het
Htr3b C T 9: 48,848,348 (GRCm39) probably null Het
Iqub A T 6: 24,501,368 (GRCm39) V194D probably damaging Het
Itga2b A G 11: 102,351,985 (GRCm39) V504A probably benign Het
Itga4 T A 2: 79,118,592 (GRCm39) F430L probably damaging Het
Jcad C A 18: 4,673,762 (GRCm39) P508H probably damaging Het
Jph1 T C 1: 17,161,835 (GRCm39) T276A probably damaging Het
Kansl2 A G 15: 98,429,771 (GRCm39) F87S possibly damaging Het
Kdm1b T C 13: 47,216,620 (GRCm39) probably null Het
Kif5b C T 18: 6,220,930 (GRCm39) D393N probably benign Het
Kmt2d A T 15: 98,747,420 (GRCm39) probably benign Het
Krt75 A G 15: 101,478,674 (GRCm39) I320T probably damaging Het
Lhfpl7 T A 5: 113,386,036 (GRCm39) M161K probably benign Het
Lipo5 T C 19: 33,443,348 (GRCm39) N156S unknown Het
Mblac2 A C 13: 81,859,706 (GRCm39) Q19P probably null Het
Mdfic2 A T 6: 98,215,080 (GRCm39) M181K probably damaging Het
Mfsd4b3-ps T C 10: 39,824,056 (GRCm39) H68R probably damaging Het
Mzb1 A T 18: 35,781,006 (GRCm39) probably null Het
Nup210l T A 3: 90,077,337 (GRCm39) I891N probably benign Het
Nwd1 G A 8: 73,398,841 (GRCm39) R667Q probably damaging Het
Oas1h C T 5: 121,005,172 (GRCm39) Q207* probably null Het
Or13c7d A T 4: 43,770,476 (GRCm39) F178L possibly damaging Het
Pcdh15 C T 10: 74,340,625 (GRCm39) R1120* probably null Het
Pfkl A G 10: 77,824,144 (GRCm39) L748P probably damaging Het
Phldb2 T A 16: 45,571,758 (GRCm39) K473N probably damaging Het
Rapgef6 G A 11: 54,443,662 (GRCm39) V82I probably damaging Het
Rfc3 A T 5: 151,570,960 (GRCm39) L112Q probably damaging Het
Rsph6a T A 7: 18,801,997 (GRCm39) C349S possibly damaging Het
Septin14 T A 5: 129,770,030 (GRCm39) Y222F probably benign Het
Skor2 T C 18: 76,947,990 (GRCm39) S571P possibly damaging Het
Slc13a5 T A 11: 72,148,244 (GRCm39) M264L probably damaging Het
Slc45a3 T A 1: 131,909,315 (GRCm39) V504E probably damaging Het
Smg1 C T 7: 117,751,631 (GRCm39) probably benign Het
Smim20 A G 5: 53,434,503 (GRCm39) N45S probably null Het
Spp2 A T 1: 88,339,991 (GRCm39) S111C probably damaging Het
Sspo A G 6: 48,442,664 (GRCm39) probably null Het
Sycp2 C T 2: 178,045,450 (GRCm39) probably null Het
Tas2r113 A G 6: 132,870,521 (GRCm39) N183S possibly damaging Het
Tcaf2 A T 6: 42,606,679 (GRCm39) M425K probably benign Het
Tdrp A G 8: 14,003,845 (GRCm39) V164A possibly damaging Het
Tmbim1 A G 1: 74,328,568 (GRCm39) F298S probably damaging Het
Tmem89 A G 9: 108,743,829 (GRCm39) probably benign Het
Trpm2 G T 10: 77,768,023 (GRCm39) C825* probably null Het
Tsc1 A G 2: 28,565,201 (GRCm39) E421G possibly damaging Het
Usp24 T C 4: 106,245,834 (GRCm39) I1364T probably benign Het
Vmn1r52 G A 6: 90,155,930 (GRCm39) G78E possibly damaging Het
Vmn2r73 T G 7: 85,506,829 (GRCm39) I828L probably damaging Het
Vwa5b1 A T 4: 138,338,058 (GRCm39) D87E probably benign Het
Zfp1010 T C 2: 176,957,223 (GRCm39) T92A possibly damaging Het
Zfp451 A T 1: 33,844,465 (GRCm39) D47E probably damaging Het
Zfp821 A G 8: 110,450,841 (GRCm39) E278G probably damaging Het
Zfp930 A T 8: 69,681,597 (GRCm39) T430S probably benign Het
Zfp994 G T 17: 22,419,448 (GRCm39) Y500* probably null Het
Zmat3 A T 3: 32,397,836 (GRCm39) I142N probably damaging Het
Zzef1 T A 11: 72,792,214 (GRCm39) I2266N 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
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'- GGCTGCTTTTGGATGAACTTCC -3'
(R):5'- CCTTGTCCCTGATGATGTGG -3'

Sequencing Primer
(F):5'- GCTTTTGGATGAACTTCCTACTG -3'
(R):5'- CCCTGATGATGTGGGGCTG -3'
Posted On 2016-04-15