Incidental Mutation 'IGL03060:Sec23a'
ID409414
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: 0.446) question?
Stock #IGL03060
Quality Score
Status
Chromosome12
Chromosomal Location58958383-59012017 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58986105 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 403 (C403S)
Ref Sequence ENSEMBL: ENSMUSP00000126011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021375] [ENSMUST00000165134]
Predicted Effect probably benign
Transcript: ENSMUST00000021375
AA Change: C432S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: C432S

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 probably benign
Transcript: ENSMUST00000165134
AA Change: C403S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: C403S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169976
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 G A 19: 56,914,250 Q720* probably null Het
Amph A G 13: 19,094,814 E153G probably damaging Het
Atad2 T C 15: 58,122,446 probably benign Het
Cep152 C T 2: 125,619,987 probably benign Het
Cntn2 C T 1: 132,528,940 V123I probably benign Het
Dhrs2 C A 14: 55,237,318 Q137K probably benign Het
Fam124a A G 14: 62,605,904 Y287C probably benign Het
Fam214a A G 9: 75,010,168 D683G probably damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gm9637 G A 14: 19,402,173 noncoding transcript Het
Helz2 A G 2: 181,229,222 probably null Het
Iars G A 13: 49,690,447 probably null Het
Igll1 A T 16: 16,862,427 probably null Het
Iqch A G 9: 63,524,914 Y361H probably damaging Het
Lrp1b A T 2: 40,637,753 H105Q probably benign Het
Mapk6 A G 9: 75,397,802 M111T probably damaging Het
Mettl11b T C 1: 163,717,123 D97G probably damaging Het
Mkl1 G A 15: 81,045,322 R27W probably damaging Het
Mt1 T A 8: 94,179,894 probably benign Het
Myh7b A T 2: 155,632,751 D1768V probably damaging Het
Myo6 A T 9: 80,260,877 Q441L probably benign Het
Nt5c3b A T 11: 100,436,219 Y84N probably damaging Het
Olfr389 A G 11: 73,776,463 F288S probably damaging Het
Paxx A G 2: 25,460,184 L137P probably damaging Het
Ptprz1 T C 6: 22,972,835 V248A probably damaging Het
Rif1 T A 2: 52,112,137 C1868S probably damaging Het
Skint4 G A 4: 112,118,235 V131I probably benign Het
Sugp2 T C 8: 70,243,187 V270A possibly damaging Het
Tmed9 A G 13: 55,595,508 D151G possibly damaging Het
Tubgcp4 A G 2: 121,176,590 probably benign Het
Uaca A G 9: 60,869,866 R512G probably damaging Het
Unc80 A G 1: 66,637,010 Y1999C possibly damaging Het
Vwf T A 6: 125,663,560 C2320S probably damaging 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
IGL02383:Sec23a APN 12 59002027 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
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 On2016-08-02