Incidental Mutation 'R0361:Sec23a'
ID 30129
Institutional Source Beutler Lab
Gene Symbol Sec23a
Ensembl Gene ENSMUSG00000020986
Gene Name SEC23 homolog A, COPII coat complex component
Synonyms Sec23r, Msec23
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R0361 (G1)
Quality Score 198
Status Not validated
Chromosome 12
Chromosomal Location 59005170-59058803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59037804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 324 (D324A)
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: D353A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: D353A

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 damaging
Transcript: ENSMUST00000165134
AA Change: D324A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: D324A

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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Efr3b A T 12: 4,027,923 (GRCm39) S376T probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Ermp1 A T 19: 29,608,806 (GRCm39) Y158N probably damaging Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plch2 T C 4: 155,091,168 (GRCm39) D148G possibly damaging Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Synrg T A 11: 83,915,163 (GRCm39) probably null Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T 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
IGL02383:Sec23a APN 12 59,048,813 (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
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
Predicted Primers PCR Primer
(F):5'- TCCACCCTGCATTGGTTTGTATCTG -3'
(R):5'- AAAAGATTCATGGGATGGCGAGGTT -3'

Sequencing Primer
(F):5'- aaacaccacttattactccacttac -3'
(R):5'- CATGGGATGGCGAGGTTATATATTTG -3'
Posted On 2013-04-24