Incidental Mutation 'R2520:Sec16a'
ID 254294
Institutional Source Beutler Lab
Gene Symbol Sec16a
Ensembl Gene ENSMUSG00000026924
Gene Name SEC16 homolog A, endoplasmic reticulum export factor
Synonyms C230052J16Rik
MMRRC Submission 040424-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R2520 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26299443-26335228 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 26331368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 216 (Q216*)
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: Q216*
SMART Domains Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: Q216*

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: Q216*
SMART Domains Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: Q216*

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A T 5: 3,625,773 (GRCm39) N70I probably damaging Het
4930503B20Rik G A 3: 146,356,261 (GRCm39) R216W probably damaging Het
Abcb9 C T 5: 124,218,091 (GRCm39) probably null Het
Arhgdia A T 11: 120,470,852 (GRCm39) V72E probably damaging Het
Arsb A T 13: 94,077,207 (GRCm39) K525* probably null Het
Bckdha A C 7: 25,341,124 (GRCm39) I79S probably benign Het
Carm1 G A 9: 21,494,893 (GRCm39) probably null Het
Cers5 G A 15: 99,634,262 (GRCm39) T362I probably damaging Het
Clec4b2 T A 6: 123,177,942 (GRCm39) F86I probably damaging Het
Crispld1 G A 1: 17,821,000 (GRCm39) D347N probably damaging Het
Csf3r A T 4: 125,929,145 (GRCm39) T352S probably benign Het
Daam2 G A 17: 49,787,785 (GRCm39) Q443* probably null Het
Dcbld1 A G 10: 52,195,641 (GRCm39) D283G probably damaging Het
Dpp9 T C 17: 56,513,868 (GRCm39) E82G probably damaging Het
Dync1li1 A G 9: 114,518,074 (GRCm39) D42G probably null Het
Eml6 T C 11: 29,741,993 (GRCm39) H1130R probably damaging Het
Enox1 A T 14: 77,819,839 (GRCm39) Y198F probably damaging Het
Epop A G 11: 97,519,554 (GRCm39) L185P probably benign Het
Frem1 A T 4: 82,868,527 (GRCm39) C1485S probably damaging Het
Gbf1 T A 19: 46,253,806 (GRCm39) S571T probably benign Het
Gm5965 A T 16: 88,575,414 (GRCm39) I196F probably null Het
Gm8237 T A 14: 5,863,642 (GRCm38) I8L possibly damaging Het
Gria2 A C 3: 80,614,269 (GRCm39) N590K probably damaging Het
Hectd2 T A 19: 36,589,633 (GRCm39) probably null Het
Hmcn1 T A 1: 150,619,398 (GRCm39) T1239S possibly damaging Het
Hps3 A T 3: 20,083,194 (GRCm39) D167E probably damaging Het
Htr1a A G 13: 105,581,881 (GRCm39) S374G probably benign Het
Il16 C T 7: 83,301,202 (GRCm39) G307S probably benign Het
Ipmk T C 10: 71,217,047 (GRCm39) F198S probably damaging Het
Lyz2 T A 10: 117,114,558 (GRCm39) I124F probably damaging Het
Maea T C 5: 33,515,854 (GRCm39) V47A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgpra1 A T 7: 46,985,020 (GRCm39) C220S possibly damaging Het
Myo5c A T 9: 75,204,931 (GRCm39) K1595* probably null Het
Naga G T 15: 82,214,295 (GRCm39) D405E probably benign Het
Nanog T A 6: 122,690,418 (GRCm39) N249K probably benign Het
Nhlh1 G T 1: 171,881,570 (GRCm39) R99S probably damaging Het
Ntrk2 T A 13: 59,202,090 (GRCm39) probably null Het
Nudt2 A G 4: 41,480,354 (GRCm39) E79G probably benign Het
Or2ad1 A T 13: 21,326,746 (GRCm39) C160* probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or52n2 T A 7: 104,542,080 (GRCm39) I252F probably benign Het
Pitpnm2 T C 5: 124,267,464 (GRCm39) D592G probably damaging Het
Prps1l3 T C 12: 57,285,369 (GRCm39) V53A probably damaging Het
Psmd2 T G 16: 20,481,826 (GRCm39) V853G probably damaging Het
Pycard A G 7: 127,592,677 (GRCm39) I50T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf168 T A 16: 32,097,221 (GRCm39) S99T probably benign Het
Rph3al A G 11: 75,797,373 (GRCm39) S108P possibly damaging Het
Sdk1 G A 5: 142,071,526 (GRCm39) A979T probably benign Het
Slc35f3 T A 8: 127,121,312 (GRCm39) V391E possibly damaging Het
Slf1 T A 13: 77,199,384 (GRCm39) I666F probably damaging Het
Slfn14 A G 11: 83,167,013 (GRCm39) V834A probably damaging Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tbc1d10b A G 7: 126,799,455 (GRCm39) probably null Het
Tmeff1 T A 4: 48,604,679 (GRCm39) C91S probably damaging Het
Tmem108 G T 9: 103,366,481 (GRCm39) N503K possibly damaging Het
Trbv28 A G 6: 41,248,541 (GRCm39) T24A probably damaging Het
Trim34b A G 7: 103,980,446 (GRCm39) E178G probably damaging Het
Trmt1l T A 1: 151,329,696 (GRCm39) H546Q probably benign Het
Ttc39d A G 17: 80,523,799 (GRCm39) I153V probably benign Het
Ttll13 T C 7: 79,899,964 (GRCm39) V101A probably damaging Het
Ubash3b A T 9: 40,926,243 (GRCm39) H501Q probably damaging Het
Upf3a T A 8: 13,846,443 (GRCm39) probably null Het
Usp48 A G 4: 137,352,562 (GRCm39) S94G probably benign Het
Wdr86 T C 5: 24,917,573 (GRCm39) *381W probably null Het
Wdr90 G A 17: 26,074,326 (GRCm39) P680S probably damaging Het
Zbtb22 G A 17: 34,135,956 (GRCm39) V34M probably damaging Het
Zbtb8a A G 4: 129,253,689 (GRCm39) probably null Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp512b A G 2: 181,231,295 (GRCm39) V295A probably damaging Het
Zfp608 A T 18: 55,121,578 (GRCm39) V3E possibly damaging Het
Zfp748 G T 13: 67,694,781 (GRCm39) D32E possibly 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
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
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'- GCTGGTGAACTATCTCATTCCC -3'
(R):5'- GTCCAGATGCTGCCACATTC -3'

Sequencing Primer
(F):5'- TTCACCACTGGCCAAGGATG -3'
(R):5'- ATTCAGCTCACTACATTCCAGGAGTG -3'
Posted On 2014-12-04