Incidental Mutation 'IGL02383:Sec23a'
ID 291449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec23a
Ensembl Gene ENSMUSG00000020986
Gene Name SEC23 homolog A, COPII coat complex component
Synonyms Sec23r, Msec23
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # IGL02383
Quality Score
Status
Chromosome 12
Chromosomal Location 59005170-59058803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59048813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 103 (L103P)
Ref Sequence ENSEMBL: ENSMUSP00000126011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021375] [ENSMUST00000165134]
AlphaFold Q01405
Predicted Effect probably damaging
Transcript: ENSMUST00000021375
AA Change: L132P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: L132P

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 58 98 2.7e-17 PFAM
Pfam:Sec23_trunk 126 390 2e-81 PFAM
Pfam:Sec23_BS 401 504 3.2e-35 PFAM
Pfam:Sec23_helical 520 618 1e-30 PFAM
Pfam:Gelsolin 629 718 9.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134223
Predicted Effect probably damaging
Transcript: ENSMUST00000165134
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: L103P

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 8.1e-16 PFAM
Pfam:Sec23_trunk 97 361 6.5e-84 PFAM
Pfam:Sec23_BS 372 475 3.8e-36 PFAM
Pfam:Sec23_helical 490 590 1.6e-38 PFAM
Pfam:Gelsolin 599 689 2.7e-17 PFAM
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 is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die during mid-embryogenesis exhibiting defects in neural tube closure and extraembryonic membrane formation as well as broad secretion defects of multiple collagen species in different tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign Het
Other mutations in Sec23a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Sec23a APN 12 59,039,068 (GRCm39) missense possibly damaging 0.47
IGL01836:Sec23a APN 12 59,018,073 (GRCm39) missense probably damaging 0.98
IGL01906:Sec23a APN 12 59,053,830 (GRCm39) missense probably damaging 1.00
IGL02507:Sec23a APN 12 59,053,884 (GRCm39) missense probably benign 0.34
IGL02816:Sec23a APN 12 59,025,331 (GRCm39) missense probably benign 0.03
IGL03060:Sec23a APN 12 59,032,891 (GRCm39) missense probably benign
R0308:Sec23a UTSW 12 59,053,985 (GRCm39) nonsense probably null
R0361:Sec23a UTSW 12 59,037,804 (GRCm39) missense probably damaging 1.00
R0546:Sec23a UTSW 12 59,031,953 (GRCm39) missense probably benign 0.07
R0720:Sec23a UTSW 12 59,018,057 (GRCm39) missense probably damaging 1.00
R1084:Sec23a UTSW 12 59,031,921 (GRCm39) missense probably damaging 0.97
R1156:Sec23a UTSW 12 59,048,622 (GRCm39) missense probably benign
R1438:Sec23a UTSW 12 59,048,796 (GRCm39) missense probably damaging 0.98
R1446:Sec23a UTSW 12 59,025,345 (GRCm39) missense probably damaging 1.00
R1526:Sec23a UTSW 12 59,032,972 (GRCm39) splice site probably null
R1705:Sec23a UTSW 12 59,048,652 (GRCm39) missense possibly damaging 0.95
R1997:Sec23a UTSW 12 59,048,793 (GRCm39) missense probably benign
R2051:Sec23a UTSW 12 59,037,754 (GRCm39) splice site probably null
R2081:Sec23a UTSW 12 59,045,067 (GRCm39) nonsense probably null
R4201:Sec23a UTSW 12 59,048,791 (GRCm39) missense probably benign 0.00
R4706:Sec23a UTSW 12 59,029,372 (GRCm39) missense probably damaging 0.98
R4724:Sec23a UTSW 12 59,025,292 (GRCm39) missense probably damaging 0.99
R4969:Sec23a UTSW 12 59,051,274 (GRCm39) critical splice donor site probably null
R5375:Sec23a UTSW 12 59,053,791 (GRCm39) missense probably benign 0.15
R5858:Sec23a UTSW 12 59,019,821 (GRCm39) missense probably damaging 0.98
R6539:Sec23a UTSW 12 59,031,998 (GRCm39) missense probably benign 0.00
R6558:Sec23a UTSW 12 59,051,338 (GRCm39) missense probably benign 0.03
R6616:Sec23a UTSW 12 59,043,941 (GRCm39) missense possibly damaging 0.95
R6716:Sec23a UTSW 12 59,015,609 (GRCm39) missense probably benign 0.09
R7078:Sec23a UTSW 12 59,039,069 (GRCm39) missense probably benign 0.07
R7155:Sec23a UTSW 12 59,036,229 (GRCm39) missense probably benign 0.03
R7367:Sec23a UTSW 12 59,013,785 (GRCm39) missense probably benign
R7923:Sec23a UTSW 12 59,039,033 (GRCm39) missense probably damaging 0.99
R8178:Sec23a UTSW 12 59,053,980 (GRCm39) missense possibly damaging 0.93
R8557:Sec23a UTSW 12 59,052,056 (GRCm39) missense probably damaging 0.96
R8839:Sec23a UTSW 12 59,037,781 (GRCm39) missense possibly damaging 0.79
R9141:Sec23a UTSW 12 59,053,890 (GRCm39) missense probably benign 0.42
R9213:Sec23a UTSW 12 59,048,708 (GRCm39) missense probably damaging 1.00
R9426:Sec23a UTSW 12 59,053,890 (GRCm39) missense probably benign 0.42
R9508:Sec23a UTSW 12 59,036,185 (GRCm39) missense probably benign 0.00
R9520:Sec23a UTSW 12 59,031,974 (GRCm39) missense probably benign
R9562:Sec23a UTSW 12 59,048,817 (GRCm39) missense possibly damaging 0.94
R9608:Sec23a UTSW 12 59,019,804 (GRCm39) missense probably benign
R9797:Sec23a UTSW 12 59,052,060 (GRCm39) nonsense probably null
Z1088:Sec23a UTSW 12 59,051,362 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16