Incidental Mutation 'IGL02383:Sec23a'
ID291449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec23a
Ensembl Gene ENSMUSG00000020986
Gene NameSEC23 homolog A, COPII coat complex component
SynonymsSec23r, Msec23
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.395) question?
Stock #IGL02383
Quality Score
Status
Chromosome12
Chromosomal Location58958383-59012017 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59002027 bp
ZygosityHeterozygous
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]
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: 133,292,242 probably benign Het
Adap2 C A 11: 80,160,189 A115D probably damaging Het
Ankrd1 A G 19: 36,119,765 V6A probably benign Het
Apobr T A 7: 126,586,607 V430E probably benign Het
Apopt1 T A 12: 111,724,413 probably benign Het
Arhgap28 A G 17: 67,896,089 V123A probably benign Het
Atp2b2 A G 6: 113,813,942 V167A probably damaging Het
B3galnt2 A T 13: 13,997,033 *505C probably null Het
Bcat2 T A 7: 45,588,007 L305Q probably damaging Het
Col9a1 T C 1: 24,185,258 S174P unknown Het
Ddx41 A T 13: 55,532,357 D418E probably benign Het
Exoc6 T C 19: 37,578,474 F240L probably benign Het
Fbln7 G A 2: 128,895,557 V431I probably benign Het
Gfral T A 9: 76,197,092 N213Y probably damaging Het
Gm15292 A G 8: 21,250,361 D61G probably damaging Het
Golgb1 A G 16: 36,886,200 D22G probably benign Het
H2-M1 G A 17: 36,670,249 T298I unknown Het
Haus3 A T 5: 34,166,236 Y343* probably null Het
Hid1 T C 11: 115,352,620 E534G probably damaging Het
Il4ra T C 7: 125,571,504 V196A probably benign Het
Itm2b C A 14: 73,363,096 E255* probably null Het
Kidins220 A T 12: 24,997,333 probably benign Het
Klhl22 T A 16: 17,776,898 F297Y possibly damaging Het
Krt9 T C 11: 100,191,215 E253G probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Map3k6 T A 4: 133,246,621 probably null Het
Med29 C A 7: 28,387,023 R120L possibly damaging Het
Napa C T 7: 16,112,578 probably benign Het
Ncapd3 T A 9: 27,050,328 Y351N probably benign Het
Nphs1 C T 7: 30,481,635 probably benign Het
Olfr1442 A G 19: 12,674,535 D110G probably benign Het
Prss16 T C 13: 22,009,527 I33V probably benign Het
Ripk1 A G 13: 34,015,244 Y193C probably damaging Het
Rph3a C T 5: 120,963,939 R78H probably damaging Het
Rrp9 T A 9: 106,485,272 I452N probably damaging Het
Ryr2 A T 13: 11,722,721 probably benign Het
Slc17a9 A C 2: 180,735,881 D190A probably benign Het
Slc44a4 G A 17: 34,927,710 V422I probably benign Het
Smc5 C T 19: 23,214,632 probably benign Het
Tax1bp1 C T 6: 52,753,366 S611F probably benign Het
Tmem38b G A 4: 53,854,345 M192I probably benign Het
Unc45a G T 7: 80,339,662 C34* probably null Het
Usp46 T A 5: 74,029,353 M6L probably benign Het
Uspl1 G A 5: 149,213,402 V471M probably damaging Het
Vmn1r35 T A 6: 66,678,891 Q265L probably damaging Het
Vmn1r35 G T 6: 66,678,892 Q265K probably damaging Het
Vmn1r50 A G 6: 90,107,479 I69V possibly damaging Het
Vps33b A G 7: 80,285,334 probably null Het
Xntrpc A C 7: 102,093,595 D604A probably damaging Het
Yeats4 T A 10: 117,215,811 R180S probably benign Het
Other mutations in Sec23a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Sec23a APN 12 58992282 missense possibly damaging 0.47
IGL01836:Sec23a APN 12 58971287 missense probably damaging 0.98
IGL01906:Sec23a APN 12 59007044 missense probably damaging 1.00
IGL02507:Sec23a APN 12 59007098 missense probably benign 0.34
IGL02816:Sec23a APN 12 58978545 missense probably benign 0.03
IGL03060:Sec23a APN 12 58986105 missense probably benign
R0308:Sec23a UTSW 12 59007199 nonsense probably null
R0361:Sec23a UTSW 12 58991018 missense probably damaging 1.00
R0546:Sec23a UTSW 12 58985167 missense probably benign 0.07
R0720:Sec23a UTSW 12 58971271 missense probably damaging 1.00
R1084:Sec23a UTSW 12 58985135 missense probably damaging 0.97
R1156:Sec23a UTSW 12 59001836 missense probably benign
R1438:Sec23a UTSW 12 59002010 missense probably damaging 0.98
R1446:Sec23a UTSW 12 58978559 missense probably damaging 1.00
R1526:Sec23a UTSW 12 58986186 splice site probably null
R1705:Sec23a UTSW 12 59001866 missense possibly damaging 0.95
R1997:Sec23a UTSW 12 59002007 missense probably benign
R2051:Sec23a UTSW 12 58990968 splice site probably null
R2081:Sec23a UTSW 12 58998281 nonsense probably null
R4201:Sec23a UTSW 12 59002005 missense probably benign 0.00
R4706:Sec23a UTSW 12 58982586 missense probably damaging 0.98
R4724:Sec23a UTSW 12 58978506 missense probably damaging 0.99
R4969:Sec23a UTSW 12 59004488 critical splice donor site probably null
R5375:Sec23a UTSW 12 59007005 missense probably benign 0.15
R5858:Sec23a UTSW 12 58973035 missense probably damaging 0.98
R6539:Sec23a UTSW 12 58985212 missense probably benign 0.00
R6558:Sec23a UTSW 12 59004552 missense probably benign 0.03
R6616:Sec23a UTSW 12 58997155 missense possibly damaging 0.95
R6716:Sec23a UTSW 12 58968823 missense probably benign 0.09
R7078:Sec23a UTSW 12 58992283 missense probably benign 0.07
R7155:Sec23a UTSW 12 58989443 missense probably benign 0.03
R7367:Sec23a UTSW 12 58966999 missense probably benign
R7923:Sec23a UTSW 12 58992247 missense probably damaging 0.99
R8178:Sec23a UTSW 12 59007194 missense possibly damaging 0.93
R8557:Sec23a UTSW 12 59005270 missense probably damaging 0.96
R8839:Sec23a UTSW 12 58990995 missense possibly damaging 0.79
Z1088:Sec23a UTSW 12 59004576 missense probably benign 0.01
Posted On2015-04-16