Incidental Mutation 'R5053:Sec31a'
ID 394739
Institutional Source Beutler Lab
Gene Symbol Sec31a
Ensembl Gene ENSMUSG00000035325
Gene Name SEC31 homolog A, COPII coat complex component
Synonyms 1810024J13Rik, Sec31l1
MMRRC Submission 042643-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R5053 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 100509508-100564093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100541073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 345 (Q345K)
Ref Sequence ENSEMBL: ENSMUSP00000138213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094578] [ENSMUST00000182886] [ENSMUST00000183247]
AlphaFold Q3UPL0
Predicted Effect possibly damaging
Transcript: ENSMUST00000094578
AA Change: Q345K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325
AA Change: Q345K

DomainStartEndE-ValueType
WD40 56 102 1.59e1 SMART
WD40 111 151 5.15e-2 SMART
WD40 158 197 5.16e-1 SMART
WD40 200 245 6.63e0 SMART
WD40 249 289 1.95e-2 SMART
WD40 292 332 4.24e-3 SMART
low complexity region 363 373 N/A INTRINSIC
Pfam:Sec16_C 572 769 3.5e-7 PFAM
low complexity region 866 882 N/A INTRINSIC
low complexity region 930 949 N/A INTRINSIC
low complexity region 953 975 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182886
AA Change: Q345K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325
AA Change: Q345K

DomainStartEndE-ValueType
WD40 56 102 1e-1 SMART
WD40 111 151 3.3e-4 SMART
WD40 158 197 3.2e-3 SMART
WD40 200 245 4.1e-2 SMART
WD40 249 289 1.2e-4 SMART
WD40 292 332 2.6e-5 SMART
low complexity region 363 373 N/A INTRINSIC
Pfam:Sec16_C 532 731 2.1e-6 PFAM
low complexity region 827 843 N/A INTRINSIC
low complexity region 891 910 N/A INTRINSIC
low complexity region 914 936 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182988
AA Change: Q84K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000183247
SMART Domains Protein: ENSMUSP00000138129
Gene: ENSMUSG00000035325

DomainStartEndE-ValueType
Pfam:Sec16_C 141 248 1.5e-7 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI

All alleles(31) : Gene trapped(31)

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A T 15: 101,035,250 (GRCm39) I259F probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Adsl T C 15: 80,844,651 (GRCm39) C180R probably damaging Het
Ahctf1 A G 1: 179,614,349 (GRCm39) I448T possibly damaging Het
Alg9 G T 9: 50,699,472 (GRCm39) G200W probably damaging Het
Amhr2 G A 15: 102,355,693 (GRCm39) V213I probably damaging Het
Ankrd44 A T 1: 54,774,248 (GRCm39) L200* probably null Het
As3mt A G 19: 46,697,493 (GRCm39) Y87C probably damaging Het
Bcl11a C A 11: 24,114,068 (GRCm39) F470L probably benign Het
Cacna2d2 A T 9: 107,392,063 (GRCm39) Y468F probably damaging Het
Cep250 A G 2: 155,804,848 (GRCm39) D71G possibly damaging Het
Clca4b T C 3: 144,616,882 (GRCm39) T923A probably benign Het
Clec16a T C 16: 10,394,461 (GRCm39) L273P probably damaging Het
Comtd1 T C 14: 21,897,764 (GRCm39) D123G probably damaging Het
Cpa5 A T 6: 30,623,271 (GRCm39) E144V probably damaging Het
Cyp2c37 G A 19: 39,990,331 (GRCm39) S343N probably benign Het
Dennd6a C A 14: 26,329,738 (GRCm39) T103K probably damaging Het
Ect2l A G 10: 18,016,093 (GRCm39) L733P probably damaging Het
Erg T A 16: 95,325,393 (GRCm39) H11L probably benign Het
Ero1b T C 13: 12,614,795 (GRCm39) L253P probably damaging Het
Etfbkmt T A 6: 149,048,766 (GRCm39) L135* probably null Het
Frmd4a A T 2: 4,608,732 (GRCm39) T867S probably damaging Het
Gm815 C T 19: 26,863,813 (GRCm39) A18V unknown Het
Gna12 C A 5: 140,746,482 (GRCm39) R321L probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Irs1 A G 1: 82,264,643 (GRCm39) L1191P probably benign Het
Kcp G T 6: 29,496,957 (GRCm39) Q551K probably benign Het
Klhl11 C T 11: 100,363,026 (GRCm39) V177M probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Llcfc1 A G 6: 41,662,269 (GRCm39) H91R possibly damaging Het
Lmnb2 A T 10: 80,740,489 (GRCm39) M223K probably damaging Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Mme T A 3: 63,272,270 (GRCm39) V623E probably damaging Het
Ndc1 T C 4: 107,231,415 (GRCm39) S119P probably damaging Het
Nfs1 A C 2: 155,968,318 (GRCm39) C383G probably damaging Het
Nphp4 A G 4: 152,628,919 (GRCm39) probably null Het
Oca2 C A 7: 55,973,328 (GRCm39) Q411K probably benign Het
Or10ab4 A G 7: 107,654,741 (GRCm39) H184R probably benign Het
Or11h23 T A 14: 50,947,968 (GRCm39) Y60* probably null Het
Or1ad1 G A 11: 50,876,137 (GRCm39) G203D probably damaging Het
Or4c15 C A 2: 88,760,597 (GRCm39) V21F probably benign Het
Or8k25 A G 2: 86,243,682 (GRCm39) F238S probably damaging Het
Pcdh7 A T 5: 57,878,943 (GRCm39) T493S probably damaging Het
Phf20 T C 2: 156,115,782 (GRCm39) S368P probably benign Het
Pla2g2e T G 4: 138,607,686 (GRCm39) V22G possibly damaging Het
Plxna1 A T 6: 89,299,442 (GRCm39) H1736Q probably damaging Het
Prlr C A 15: 10,325,471 (GRCm39) Q215K probably benign Het
Prpf6 T C 2: 181,291,246 (GRCm39) V687A probably benign Het
Ptprq T A 10: 107,399,063 (GRCm39) T1951S probably damaging Het
Serpina3k T C 12: 104,309,473 (GRCm39) probably null Het
Sertad3 T A 7: 27,175,947 (GRCm39) V127E probably benign Het
Sf3b1 A T 1: 55,036,336 (GRCm39) N912K probably benign Het
Shq1 A G 6: 100,632,220 (GRCm39) L202P probably damaging Het
Sp8 C T 12: 118,813,339 (GRCm39) T398M probably damaging Het
Tmem150c A T 5: 100,231,599 (GRCm39) D125E probably benign Het
Trim3 G T 7: 105,266,968 (GRCm39) D470E probably damaging Het
Ubap1 T A 4: 41,387,315 (GRCm39) C88* probably null Het
Unc79 T A 12: 103,071,007 (GRCm39) D1124E probably damaging Het
Usf3 T C 16: 44,037,550 (GRCm39) S677P probably benign Het
Vmn1r76 T C 7: 11,664,241 (GRCm39) probably null Het
Zfp819 C T 7: 43,266,570 (GRCm39) T275I probably damaging Het
Zranb2 T A 3: 157,246,796 (GRCm39) D161E probably damaging Het
Other mutations in Sec31a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Sec31a APN 5 100,551,876 (GRCm39) nonsense probably null
IGL01610:Sec31a APN 5 100,550,217 (GRCm39) splice site probably benign
IGL01804:Sec31a APN 5 100,523,065 (GRCm39) critical splice donor site probably null
IGL02026:Sec31a APN 5 100,517,485 (GRCm39) missense probably benign 0.04
IGL02150:Sec31a APN 5 100,533,984 (GRCm39) splice site probably benign
IGL02237:Sec31a APN 5 100,509,914 (GRCm39) missense probably damaging 1.00
IGL02469:Sec31a APN 5 100,533,114 (GRCm39) missense probably benign 0.02
IGL02512:Sec31a APN 5 100,555,052 (GRCm39) missense probably damaging 0.99
control UTSW 5 100,510,032 (GRCm39) missense probably damaging 1.00
D3080:Sec31a UTSW 5 100,511,691 (GRCm39) missense probably damaging 1.00
PIT4142001:Sec31a UTSW 5 100,555,134 (GRCm39) missense probably damaging 1.00
R0366:Sec31a UTSW 5 100,530,625 (GRCm39) missense probably damaging 1.00
R0453:Sec31a UTSW 5 100,551,977 (GRCm39) splice site probably benign
R0511:Sec31a UTSW 5 100,523,099 (GRCm39) missense probably benign 0.01
R0546:Sec31a UTSW 5 100,551,929 (GRCm39) missense probably damaging 1.00
R0675:Sec31a UTSW 5 100,541,066 (GRCm39) missense probably damaging 0.97
R0678:Sec31a UTSW 5 100,555,084 (GRCm39) missense possibly damaging 0.74
R0975:Sec31a UTSW 5 100,543,763 (GRCm39) splice site probably null
R1146:Sec31a UTSW 5 100,510,032 (GRCm39) missense probably damaging 1.00
R1146:Sec31a UTSW 5 100,510,032 (GRCm39) missense probably damaging 1.00
R1540:Sec31a UTSW 5 100,523,178 (GRCm39) missense probably damaging 1.00
R1616:Sec31a UTSW 5 100,534,054 (GRCm39) missense possibly damaging 0.88
R1780:Sec31a UTSW 5 100,529,195 (GRCm39) splice site probably null
R2472:Sec31a UTSW 5 100,533,064 (GRCm39) missense probably damaging 1.00
R3689:Sec31a UTSW 5 100,530,766 (GRCm39) missense probably damaging 1.00
R4515:Sec31a UTSW 5 100,513,817 (GRCm39) missense probably damaging 0.99
R4801:Sec31a UTSW 5 100,541,222 (GRCm39) missense probably damaging 0.96
R4802:Sec31a UTSW 5 100,541,222 (GRCm39) missense probably damaging 0.96
R4896:Sec31a UTSW 5 100,516,192 (GRCm39) missense probably damaging 1.00
R5004:Sec31a UTSW 5 100,516,192 (GRCm39) missense probably damaging 1.00
R5158:Sec31a UTSW 5 100,541,180 (GRCm39) missense probably damaging 0.99
R5191:Sec31a UTSW 5 100,553,370 (GRCm39) missense possibly damaging 0.75
R5222:Sec31a UTSW 5 100,530,754 (GRCm39) missense probably benign
R5405:Sec31a UTSW 5 100,531,657 (GRCm39) nonsense probably null
R5436:Sec31a UTSW 5 100,511,698 (GRCm39) missense probably damaging 0.98
R5577:Sec31a UTSW 5 100,550,133 (GRCm39) missense possibly damaging 0.95
R6005:Sec31a UTSW 5 100,511,737 (GRCm39) missense probably damaging 1.00
R6184:Sec31a UTSW 5 100,517,453 (GRCm39) critical splice donor site probably null
R6245:Sec31a UTSW 5 100,534,043 (GRCm39) missense probably benign 0.07
R6475:Sec31a UTSW 5 100,533,129 (GRCm39) missense probably damaging 1.00
R6476:Sec31a UTSW 5 100,534,008 (GRCm39) missense probably benign 0.03
R6744:Sec31a UTSW 5 100,540,358 (GRCm39) missense possibly damaging 0.47
R6804:Sec31a UTSW 5 100,530,671 (GRCm39) missense probably benign 0.03
R6911:Sec31a UTSW 5 100,541,123 (GRCm39) missense possibly damaging 0.92
R6936:Sec31a UTSW 5 100,540,369 (GRCm39) missense probably benign
R7345:Sec31a UTSW 5 100,533,129 (GRCm39) missense probably damaging 1.00
R7760:Sec31a UTSW 5 100,540,487 (GRCm39) missense probably damaging 1.00
R7898:Sec31a UTSW 5 100,547,336 (GRCm39) missense probably damaging 0.99
R8088:Sec31a UTSW 5 100,526,721 (GRCm39) missense
R8555:Sec31a UTSW 5 100,540,273 (GRCm39) missense probably benign 0.25
R8762:Sec31a UTSW 5 100,526,688 (GRCm39) missense
R9055:Sec31a UTSW 5 100,534,040 (GRCm39) missense possibly damaging 0.75
R9173:Sec31a UTSW 5 100,529,147 (GRCm39) missense possibly damaging 0.85
R9249:Sec31a UTSW 5 100,533,083 (GRCm39) missense probably damaging 0.98
X0003:Sec31a UTSW 5 100,547,213 (GRCm39) missense probably damaging 0.98
Z1177:Sec31a UTSW 5 100,531,704 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACCTGTGCGAACTGTGTTGC -3'
(R):5'- TGCACGTATTACCAGCCTTAC -3'

Sequencing Primer
(F):5'- GCGAACTGTGTTGCAACTTTTCAAC -3'
(R):5'- GCTTATGACCAGGCTATCCC -3'
Posted On 2016-06-15