Incidental Mutation 'R7760:Sec31a'
ID 597784
Institutional Source Beutler Lab
Gene Symbol Sec31a
Ensembl Gene ENSMUSG00000035325
Gene Name SEC31 homolog A, COPII coat complex component
Synonyms 1810024J13Rik, Sec31l1
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 100509508-100564093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100540487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 400 (F400L)
Ref Sequence ENSEMBL: ENSMUSP00000092157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094578] [ENSMUST00000182886] [ENSMUST00000183247]
AlphaFold Q3UPL0
Predicted Effect probably damaging
Transcript: ENSMUST00000094578
AA Change: F400L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325
AA Change: F400L

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 probably damaging
Transcript: ENSMUST00000182886
AA Change: F400L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325
AA Change: F400L

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
Predicted Effect probably benign
Transcript: ENSMUST00000183247
SMART Domains Protein: ENSMUSP00000138129
Gene: ENSMUSG00000035325

DomainStartEndE-ValueType
Pfam:Sec16_C 141 248 1.5e-7 PFAM
Meta Mutation Damage Score 0.8757 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R 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
R5053:Sec31a UTSW 5 100,541,073 (GRCm39) missense possibly damaging 0.94
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
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'- TCAAACTCGGTCTGGGAAGC -3'
(R):5'- ATTGTGGGACAGCACAAAGTAC -3'

Sequencing Primer
(F):5'- CTTTTTCTGGCAGTAACCGATGAAG -3'
(R):5'- GGACAGCACAAAGTACTGCCTATC -3'
Posted On 2019-11-26