Incidental Mutation 'IGL01610:Sec31a'
ID 92015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec31a
Ensembl Gene ENSMUSG00000035325
Gene Name SEC31 homolog A, COPII coat complex component
Synonyms 1810024J13Rik, Sec31l1
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # IGL01610
Quality Score
Status
Chromosome 5
Chromosomal Location 100509508-100564093 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 100550217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094578] [ENSMUST00000182886]
AlphaFold Q3UPL0
Predicted Effect probably benign
Transcript: ENSMUST00000094578
SMART Domains Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325

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 noncoding transcript
Transcript: ENSMUST00000182850
Predicted Effect probably benign
Transcript: ENSMUST00000182886
SMART Domains Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325

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
Coding Region Coverage
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,332,633 (GRCm39) probably benign Het
4921524J17Rik T C 8: 86,138,871 (GRCm39) I73V probably benign Het
4930562C15Rik T A 16: 4,669,429 (GRCm39) probably benign Het
Abca15 T A 7: 119,939,867 (GRCm39) V323D probably damaging Het
Acot10 T C 15: 20,665,781 (GRCm39) Y320C probably damaging Het
Acp6 T A 3: 97,083,036 (GRCm39) V349D possibly damaging Het
Adcy9 G T 16: 4,235,978 (GRCm39) Q478K probably damaging Het
Akap13 A G 7: 75,369,928 (GRCm39) I1843V possibly damaging Het
Akap13 A T 7: 75,397,353 (GRCm39) I2528F probably damaging Het
Akap9 G A 5: 4,082,839 (GRCm39) A1988T possibly damaging Het
Alox5 C T 6: 116,390,508 (GRCm39) V490M probably damaging Het
Aspm C T 1: 139,417,408 (GRCm39) R1537* probably null Het
Bmf G A 2: 118,379,639 (GRCm39) P46S probably benign Het
Brf1 T A 12: 112,951,703 (GRCm39) H92L probably benign Het
Chchd1 A G 14: 20,753,245 (GRCm39) N35S probably benign Het
Cntnap3 C T 13: 64,905,115 (GRCm39) G889S probably damaging Het
Col6a4 T C 9: 105,924,906 (GRCm39) probably benign Het
Crispld1 A G 1: 17,816,949 (GRCm39) probably null Het
Ddx27 T C 2: 166,863,964 (GRCm39) probably benign Het
Dennd1b A G 1: 139,097,504 (GRCm39) probably benign Het
Dennd4a T C 9: 64,814,166 (GRCm39) V1461A probably damaging Het
Drc7 C T 8: 95,804,430 (GRCm39) R843W probably damaging Het
Dync2li1 A G 17: 84,935,742 (GRCm39) E13G probably damaging Het
Egf A G 3: 129,499,909 (GRCm39) probably benign Het
Hpse2 T C 19: 43,373,228 (GRCm39) S134G probably benign Het
Hydin A G 8: 111,284,345 (GRCm39) T3206A probably benign Het
Ier5l T A 2: 30,363,966 (GRCm39) S20C probably damaging Het
Il1r1 A G 1: 40,341,560 (GRCm39) E324G probably benign Het
Kdm4b C T 17: 56,660,522 (GRCm39) probably benign Het
Lztfl1 T A 9: 123,529,156 (GRCm39) E298D probably benign Het
Myo1b A T 1: 51,815,405 (GRCm39) M647K probably damaging Het
Or13a25 C T 7: 140,247,584 (GRCm39) A128V probably damaging Het
Or52z14 A T 7: 103,253,274 (GRCm39) T138S probably benign Het
Or5j1 G T 2: 86,878,632 (GRCm39) probably benign Het
Parvb A T 15: 84,187,666 (GRCm39) K258M probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pcnx2 C A 8: 126,566,372 (GRCm39) A1024S possibly damaging Het
Pde4a T C 9: 21,122,646 (GRCm39) probably benign Het
Pgr A T 9: 8,903,692 (GRCm39) H571L possibly damaging Het
Phf20 G T 2: 156,144,809 (GRCm39) E806* probably null Het
Pilra T A 5: 137,833,803 (GRCm39) I85F probably damaging Het
Pla2g2f C T 4: 138,480,622 (GRCm39) V125M probably damaging Het
Rb1cc1 A G 1: 6,318,705 (GRCm39) N708S probably benign Het
Resf1 C T 6: 149,230,449 (GRCm39) T1165M probably benign Het
Rnase4 A T 14: 51,342,378 (GRCm39) Y34F probably damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpl9-ps6 T A 19: 32,443,699 (GRCm39) T85S probably benign Het
Scaf8 C T 17: 3,246,124 (GRCm39) P738S probably damaging Het
Sel1l C T 12: 91,784,064 (GRCm39) V459I probably damaging Het
Senp7 A T 16: 55,996,186 (GRCm39) D755V possibly damaging Het
Serpinb9d A T 13: 33,381,985 (GRCm39) K151N probably benign Het
Slc8a3 A G 12: 81,362,576 (GRCm39) F81S probably damaging Het
Spire2 T A 8: 124,083,502 (GRCm39) L162Q probably damaging Het
Syt17 A G 7: 118,033,216 (GRCm39) I264T possibly damaging Het
Tbl3 A T 17: 24,923,018 (GRCm39) V379D probably damaging Het
Tenm3 A T 8: 48,707,512 (GRCm39) L1762Q probably damaging Het
Trerf1 A T 17: 47,630,501 (GRCm39) noncoding transcript Het
Ttc13 T C 8: 125,403,083 (GRCm39) D552G probably damaging Het
Tuba3a G T 6: 125,255,529 (GRCm39) T382K possibly damaging Het
Vmn1r210 A T 13: 23,011,977 (GRCm39) V103E probably damaging Het
Vmn1r80 A G 7: 11,927,307 (GRCm39) H139R possibly damaging Het
Xpo7 A T 14: 70,940,670 (GRCm39) F141Y probably damaging Het
Zfp143 T A 7: 109,673,333 (GRCm39) Y143* probably null Het
Zfp207 T A 11: 80,276,796 (GRCm39) C26S probably damaging Het
Other mutations in Sec31a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Sec31a APN 5 100,551,876 (GRCm39) nonsense probably null
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
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
Posted On 2013-12-09