Incidental Mutation 'R7186:Sec16a'
ID 559273
Institutional Source Beutler Lab
Gene Symbol Sec16a
Ensembl Gene ENSMUSG00000026924
Gene Name SEC16 homolog A, endoplasmic reticulum export factor
Synonyms C230052J16Rik
MMRRC Submission 045271-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R7186 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26299443-26335228 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 26330715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 433 (Y433*)
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: Y433*
SMART Domains Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: Y433*

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: Y433*
SMART Domains Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: Y433*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,100 (GRCm39) I778F possibly damaging Het
Adam39 A T 8: 41,279,349 (GRCm39) N580I probably damaging Het
Adamts20 A G 15: 94,220,689 (GRCm39) S1415P possibly damaging Het
Adcy2 A G 13: 68,816,758 (GRCm39) Y743H probably damaging Het
Aldh1a3 A G 7: 66,055,831 (GRCm39) V320A probably damaging Het
Arid1a TGCCGCCGCCGCCGCCGCCGCCG TGCCGCCGCCGCCGCCGCCG 4: 133,480,544 (GRCm39) Het
Art5 G T 7: 101,746,536 (GRCm39) R268S probably benign Het
Bfar T C 16: 13,510,371 (GRCm39) V238A probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdc23 G A 18: 34,770,175 (GRCm39) T408I probably damaging Het
Cdh24 G C 14: 54,870,949 (GRCm39) P522A probably benign Het
Clk4 T C 11: 51,159,607 (GRCm39) V61A probably benign Het
Clrn2 T C 5: 45,611,115 (GRCm39) probably benign Het
Cyp2j8 T C 4: 96,363,787 (GRCm39) D292G probably benign Het
Deaf1 T C 7: 140,907,383 (GRCm39) E34G probably benign Het
Elovl7 A G 13: 108,408,382 (GRCm39) E127G probably damaging Het
Flg A T 3: 93,187,252 (GRCm39) R235* probably null Het
Gbp3 G A 3: 142,269,923 (GRCm39) V77M probably damaging Het
Gda A T 19: 21,372,569 (GRCm39) F450I probably benign Het
Gipc1 A G 8: 84,390,762 (GRCm39) E289G possibly damaging Het
Gm4924 T C 10: 82,214,778 (GRCm39) Y859H unknown Het
Gpatch1 A T 7: 34,994,738 (GRCm39) D509E possibly damaging Het
Gpbp1 A G 13: 111,577,233 (GRCm39) V219A possibly damaging Het
Gpr107 A T 2: 31,042,371 (GRCm39) M1L possibly damaging Het
Heg1 T C 16: 33,552,034 (GRCm39) F1003L probably damaging Het
Hivep1 A G 13: 42,309,814 (GRCm39) T685A probably benign Het
Hpse T A 5: 100,843,395 (GRCm39) D259V probably damaging Het
Ido2 A T 8: 25,040,826 (GRCm39) probably null Het
Ighv14-1 T C 12: 113,895,649 (GRCm39) D92G probably damaging Het
Krt87 A T 15: 101,385,083 (GRCm39) probably null Het
Lsp1 T C 7: 142,044,089 (GRCm39) V278A probably damaging Het
Lurap1l C A 4: 80,829,747 (GRCm39) S52R possibly damaging Het
Luzp2 A G 7: 54,485,577 (GRCm39) probably benign Het
Micall1 A G 15: 79,009,575 (GRCm39) E399G unknown Het
Ncapd2 A G 6: 125,163,119 (GRCm39) S130P possibly damaging Het
Nrg2 A G 18: 36,178,973 (GRCm39) V321A probably benign Het
Nuf2 T C 1: 169,352,954 (GRCm39) H17R probably damaging Het
Numb A G 12: 83,842,920 (GRCm39) W419R probably damaging Het
Or4d2b G A 11: 87,780,591 (GRCm39) L44F possibly damaging Het
Or4f62 T A 2: 111,986,507 (GRCm39) D70E probably damaging Het
Or56a3b A G 7: 104,771,473 (GRCm39) R270G probably benign Het
Pde6a T A 18: 61,353,678 (GRCm39) M1K probably null Het
Pknox1 C T 17: 31,822,172 (GRCm39) A313V probably damaging Het
Ppp2ca T A 11: 52,010,080 (GRCm39) N229K possibly damaging Het
Ptgdr A T 14: 45,096,401 (GRCm39) C104S probably damaging Het
Ralgapa2 C A 2: 146,230,406 (GRCm39) probably null Het
Rfx5 G T 3: 94,865,659 (GRCm39) K319N probably benign Het
Rnase10 A T 14: 51,247,242 (GRCm39) T207S probably damaging Het
Rreb1 A G 13: 38,125,608 (GRCm39) T1305A probably benign Het
Rrp12 C A 19: 41,859,744 (GRCm39) probably null Het
Rubcnl A C 14: 75,269,453 (GRCm39) D37A possibly damaging Het
Saxo5 T C 8: 3,529,049 (GRCm39) F208S probably damaging Het
Scn9a T C 2: 66,364,567 (GRCm39) Y802C probably damaging Het
Sgk3 T A 1: 9,956,227 (GRCm39) V331D probably benign Het
Sirt7 C T 11: 120,511,311 (GRCm39) R280H probably benign Het
Snx13 G C 12: 35,142,912 (GRCm39) R252S probably damaging Het
Stk32b G T 5: 37,624,125 (GRCm39) D207E probably damaging Het
Sult2a7 C T 7: 14,203,978 (GRCm39) V262I not run Het
Tcstv7b C T 13: 120,702,587 (GRCm39) L128F probably damaging Het
Tent5b T A 4: 133,213,518 (GRCm39) F130I probably damaging Het
Tmem33 G C 5: 67,421,130 (GRCm39) V35L possibly damaging Het
Uba1y A G Y: 825,537 (GRCm39) I300V probably benign Het
Usp32 A T 11: 84,942,060 (GRCm39) V344E probably benign Het
Usp50 C T 2: 126,625,218 (GRCm39) probably benign Het
Vmn1r238 A C 18: 3,122,661 (GRCm39) F251C probably damaging Het
Vmn2r74 A T 7: 85,601,150 (GRCm39) Y829* probably null Het
Wars1 A G 12: 108,846,982 (GRCm39) F141L probably damaging Het
Zfp879 A G 11: 50,724,621 (GRCm39) V145A probably benign Het
Zfp934 A T 13: 62,640,204 (GRCm39) V56D probably benign 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
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
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'- CTCACGGGGCAAAACTTCTTG -3'
(R):5'- TAACCATGCCCTGCAAGAAG -3'

Sequencing Primer
(F):5'- CACGGGGCAAAACTTCTTGATTCTG -3'
(R):5'- AAGAAGCAGCCTCTGGAGCTC -3'
Posted On 2019-06-26