Incidental Mutation 'R1681:Sec24a'
ID 188528
Institutional Source Beutler Lab
Gene Symbol Sec24a
Ensembl Gene ENSMUSG00000036391
Gene Name SEC24 homolog A, COPII coat complex component
Synonyms 9430090N21Rik
MMRRC Submission 039717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1681 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 51583090-51649172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51586016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 1071 (T1071P)
Ref Sequence ENSEMBL: ENSMUSP00000104725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038210] [ENSMUST00000109097]
AlphaFold Q3U2P1
Predicted Effect probably damaging
Transcript: ENSMUST00000038210
AA Change: T1070P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: T1070P

DomainStartEndE-ValueType
low complexity region 8 28 N/A INTRINSIC
low complexity region 71 84 N/A INTRINSIC
low complexity region 196 235 N/A INTRINSIC
low complexity region 396 414 N/A INTRINSIC
Pfam:zf-Sec23_Sec24 423 461 8e-19 PFAM
Pfam:Sec23_trunk 497 735 1.2e-87 PFAM
Pfam:Sec23_BS 740 824 1.1e-23 PFAM
Pfam:Sec23_helical 836 938 5.1e-27 PFAM
Pfam:Gelsolin 960 1035 7.2e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109097
AA Change: T1071P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: T1071P

DomainStartEndE-ValueType
low complexity region 8 28 N/A INTRINSIC
low complexity region 71 84 N/A INTRINSIC
low complexity region 196 235 N/A INTRINSIC
low complexity region 396 414 N/A INTRINSIC
Pfam:zf-Sec23_Sec24 425 462 2.4e-16 PFAM
Pfam:Sec23_trunk 498 736 7.8e-87 PFAM
Pfam:Sec23_BS 741 825 1.1e-22 PFAM
Pfam:Sec23_helical 838 938 6.9e-28 PFAM
Pfam:Gelsolin 961 1036 9.3e-14 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.6%
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 belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased circulating cholesterol level, decreased circulating LDL cholesterol level, and abnormal liver physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,117,011 (GRCm39) I247N probably damaging Het
Ankle1 G T 8: 71,860,262 (GRCm39) S260I probably benign Het
Aoc2 T C 11: 101,216,018 (GRCm39) S34P probably benign Het
Ap1m1 A C 8: 73,009,966 (GRCm39) I397L possibly damaging Het
Apba1 C A 19: 23,913,925 (GRCm39) D649E probably damaging Het
Aptx C T 4: 40,697,274 (GRCm39) V25M probably benign Het
Arhgef18 G A 8: 3,489,645 (GRCm39) G326R probably damaging Het
Atm A C 9: 53,433,455 (GRCm39) I265S possibly damaging Het
B3galt4 A T 17: 34,170,187 (GRCm39) V17E probably benign Het
Bcl7a T A 5: 123,494,086 (GRCm39) M86K possibly damaging Het
Calhm6 A G 10: 34,003,896 (GRCm39) F4L probably benign Het
Cela3a T A 4: 137,129,995 (GRCm39) probably null Het
Cep85 T A 4: 133,876,039 (GRCm39) K456* probably null Het
Ces1f C A 8: 94,002,042 (GRCm39) A29S probably benign Het
Chd9 A T 8: 91,699,763 (GRCm39) I598F probably damaging Het
Cntln T C 4: 84,865,872 (GRCm39) L176S probably damaging Het
Cntn3 A T 6: 102,147,629 (GRCm39) N909K probably damaging Het
Cntnap5b T C 1: 100,003,832 (GRCm39) S271P probably damaging Het
Col6a3 T A 1: 90,701,224 (GRCm39) H2564L unknown Het
Cyp2b19 C A 7: 26,462,765 (GRCm39) probably null Het
Dapk1 G T 13: 60,866,278 (GRCm39) probably null Het
Dnah7b T A 1: 46,363,872 (GRCm39) Y3497* probably null Het
Duoxa2 T C 2: 122,129,643 (GRCm39) probably null Het
Eny2 T C 15: 44,295,874 (GRCm39) W42R probably damaging Het
Epha3 A G 16: 63,416,091 (GRCm39) V635A probably damaging Het
Fam167b G C 4: 129,472,069 (GRCm39) Q34E probably benign Het
Fancm T C 12: 65,152,430 (GRCm39) M962T probably benign Het
Gimap8 T A 6: 48,633,345 (GRCm39) I388N probably benign Het
Gpaa1 A G 15: 76,215,653 (GRCm39) T22A probably benign Het
Hoxc11 T C 15: 102,863,591 (GRCm39) S211P possibly damaging Het
Hsd17b12 T C 2: 93,863,906 (GRCm39) N312S unknown Het
Idh2 T G 7: 79,748,906 (GRCm39) E125A probably damaging Het
Igdcc4 A G 9: 65,036,077 (GRCm39) Y712C probably damaging Het
Kank1 T C 19: 25,387,668 (GRCm39) V447A possibly damaging Het
Kif1b T A 4: 149,279,958 (GRCm39) probably null Het
Klc4 A T 17: 46,947,696 (GRCm39) D335E probably damaging Het
Klhl33 T A 14: 51,130,534 (GRCm39) D320V probably benign Het
Krt73 A T 15: 101,710,482 (GRCm39) M84K possibly damaging Het
Kti12 T A 4: 108,706,055 (GRCm39) I323N probably damaging Het
Kynu T C 2: 43,569,837 (GRCm39) L373P probably damaging Het
Lats1 T C 10: 7,581,678 (GRCm39) M821T probably damaging Het
Lnx1 A T 5: 74,846,071 (GRCm39) H126Q probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc4b T A 7: 44,110,601 (GRCm39) Y158N probably damaging Het
Lrrc74b C A 16: 17,377,617 (GRCm39) R87L probably damaging Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Mrpl38 G A 11: 116,029,255 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,872,450 (GRCm39) T966A possibly damaging Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Nlrp1a T A 11: 71,033,184 (GRCm39) E3D unknown Het
Nphs2 T A 1: 156,148,468 (GRCm39) D110E probably damaging Het
Nxn T A 11: 76,163,290 (GRCm39) K244N probably benign Het
Oas3 A T 5: 120,907,973 (GRCm39) F322L probably benign Het
Obscn T A 11: 58,994,151 (GRCm39) Y1577F probably damaging Het
Or10ag57 G A 2: 87,218,964 (GRCm39) R305K possibly damaging Het
Or8b47 T A 9: 38,435,413 (GRCm39) N128K probably benign Het
Or8b50 G A 9: 38,518,244 (GRCm39) G161D probably damaging Het
Or8b52 A G 9: 38,576,616 (GRCm39) Y175H probably benign Het
Or8d2 T C 9: 38,759,809 (GRCm39) M133T probably damaging Het
Panx1 T C 9: 14,919,079 (GRCm39) D260G probably benign Het
Pcdhb15 T C 18: 37,606,866 (GRCm39) Y33H probably damaging Het
Pik3ap1 C A 19: 41,296,968 (GRCm39) V461F probably damaging Het
Plpp3 G A 4: 105,066,002 (GRCm39) probably null Het
Prtn3 A T 10: 79,716,375 (GRCm39) T61S probably benign Het
Psen1 T A 12: 83,771,394 (GRCm39) Y225N probably damaging Het
Rab44 T A 17: 29,359,098 (GRCm39) S429T possibly damaging Het
Ralgapa1 T C 12: 55,809,388 (GRCm39) I462M probably benign Het
Rbfox3 T C 11: 118,396,495 (GRCm39) N105S probably damaging Het
Rbm7 A C 9: 48,401,021 (GRCm39) Y236D possibly damaging Het
Samhd1 T C 2: 156,943,652 (GRCm39) T621A probably benign Het
Samt3 C A X: 85,090,256 (GRCm39) D49E probably benign Het
Sass6 T C 3: 116,397,122 (GRCm39) V26A possibly damaging Het
Scn11a C T 9: 119,633,478 (GRCm39) M418I possibly damaging Het
Scrib T C 15: 75,936,416 (GRCm39) E480G probably damaging Het
Siglecg A C 7: 43,058,365 (GRCm39) E84A probably benign Het
Slc6a17 C T 3: 107,381,702 (GRCm39) V419I probably damaging Het
Ssr2 T C 3: 88,488,349 (GRCm39) M75T possibly damaging Het
Tbc1d22b A G 17: 29,794,151 (GRCm39) T275A possibly damaging Het
Tbx15 T A 3: 99,259,140 (GRCm39) probably null Het
Tll1 A C 8: 64,538,585 (GRCm39) L353R possibly damaging Het
Tlr4 C T 4: 66,759,342 (GRCm39) P712S probably damaging Het
Tmem145 T A 7: 25,014,159 (GRCm39) F424L possibly damaging Het
Tnrc18 T C 5: 142,759,572 (GRCm39) K755E unknown Het
Trmt44 A G 5: 35,727,321 (GRCm39) I298T probably benign Het
Vmn1r69 A G 7: 10,314,179 (GRCm39) V184A probably benign Het
Zfp84 T C 7: 29,476,825 (GRCm39) C506R probably damaging Het
Other mutations in Sec24a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Sec24a APN 11 51,627,331 (GRCm39) nonsense probably null
IGL00973:Sec24a APN 11 51,620,404 (GRCm39) critical splice acceptor site probably null
IGL01364:Sec24a APN 11 51,604,356 (GRCm39) critical splice donor site probably null
IGL01476:Sec24a APN 11 51,599,783 (GRCm39) missense possibly damaging 0.88
IGL01725:Sec24a APN 11 51,614,405 (GRCm39) splice site probably null
IGL02069:Sec24a APN 11 51,624,761 (GRCm39) splice site probably benign
IGL02230:Sec24a APN 11 51,599,861 (GRCm39) missense possibly damaging 0.88
IGL02617:Sec24a APN 11 51,603,014 (GRCm39) critical splice donor site probably null
IGL02655:Sec24a APN 11 51,625,482 (GRCm39) missense probably benign 0.43
IGL02756:Sec24a APN 11 51,587,560 (GRCm39) missense probably benign 0.02
IGL03396:Sec24a APN 11 51,599,794 (GRCm39) missense probably benign 0.17
R0153:Sec24a UTSW 11 51,591,653 (GRCm39) missense probably benign 0.08
R0506:Sec24a UTSW 11 51,634,622 (GRCm39) missense probably benign 0.03
R0625:Sec24a UTSW 11 51,620,281 (GRCm39) missense probably damaging 0.98
R1084:Sec24a UTSW 11 51,604,408 (GRCm39) missense probably damaging 1.00
R1166:Sec24a UTSW 11 51,624,294 (GRCm39) missense possibly damaging 0.72
R1376:Sec24a UTSW 11 51,591,740 (GRCm39) splice site probably benign
R1487:Sec24a UTSW 11 51,622,713 (GRCm39) missense possibly damaging 0.92
R1541:Sec24a UTSW 11 51,634,623 (GRCm39) missense probably benign 0.41
R1582:Sec24a UTSW 11 51,599,794 (GRCm39) missense probably benign 0.17
R1643:Sec24a UTSW 11 51,595,212 (GRCm39) missense probably benign 0.03
R1672:Sec24a UTSW 11 51,634,775 (GRCm39) nonsense probably null
R1756:Sec24a UTSW 11 51,624,590 (GRCm39) splice site probably benign
R1992:Sec24a UTSW 11 51,627,190 (GRCm39) missense probably benign 0.00
R2159:Sec24a UTSW 11 51,603,177 (GRCm39) missense probably damaging 1.00
R2177:Sec24a UTSW 11 51,595,228 (GRCm39) missense probably benign 0.00
R2188:Sec24a UTSW 11 51,614,411 (GRCm39) missense probably damaging 0.99
R2271:Sec24a UTSW 11 51,607,277 (GRCm39) missense possibly damaging 0.91
R3414:Sec24a UTSW 11 51,620,285 (GRCm39) missense probably damaging 1.00
R4349:Sec24a UTSW 11 51,605,976 (GRCm39) missense probably benign 0.03
R4396:Sec24a UTSW 11 51,605,991 (GRCm39) missense possibly damaging 0.86
R4629:Sec24a UTSW 11 51,612,640 (GRCm39) critical splice donor site probably null
R5061:Sec24a UTSW 11 51,604,359 (GRCm39) splice site probably null
R5577:Sec24a UTSW 11 51,625,448 (GRCm39) missense probably benign 0.06
R5717:Sec24a UTSW 11 51,598,037 (GRCm39) missense probably benign
R5915:Sec24a UTSW 11 51,646,964 (GRCm39) missense probably benign 0.11
R6175:Sec24a UTSW 11 51,622,718 (GRCm39) missense probably damaging 1.00
R6341:Sec24a UTSW 11 51,608,603 (GRCm39) missense probably damaging 0.99
R6461:Sec24a UTSW 11 51,604,373 (GRCm39) missense possibly damaging 0.76
R6610:Sec24a UTSW 11 51,587,483 (GRCm39) missense probably benign
R6632:Sec24a UTSW 11 51,604,476 (GRCm39) nonsense probably null
R6907:Sec24a UTSW 11 51,603,103 (GRCm39) missense probably damaging 1.00
R6969:Sec24a UTSW 11 51,591,643 (GRCm39) missense probably benign 0.35
R7132:Sec24a UTSW 11 51,605,963 (GRCm39) nonsense probably null
R7274:Sec24a UTSW 11 51,598,082 (GRCm39) missense probably damaging 1.00
R7475:Sec24a UTSW 11 51,604,379 (GRCm39) missense probably damaging 1.00
R7699:Sec24a UTSW 11 51,603,084 (GRCm39) missense probably damaging 1.00
R7700:Sec24a UTSW 11 51,603,084 (GRCm39) missense probably damaging 1.00
R7935:Sec24a UTSW 11 51,612,749 (GRCm39) missense probably benign 0.25
R8042:Sec24a UTSW 11 51,595,144 (GRCm39) missense probably benign
R8345:Sec24a UTSW 11 51,634,605 (GRCm39) missense probably benign 0.00
R9217:Sec24a UTSW 11 51,617,331 (GRCm39) missense probably benign 0.14
R9501:Sec24a UTSW 11 51,603,122 (GRCm39) missense probably damaging 1.00
X0025:Sec24a UTSW 11 51,620,374 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAAACATAGTTGGCAGCAAAGGGA -3'
(R):5'- CATTTACATCAGAGAAACCTCCAGGCA -3'

Sequencing Primer
(F):5'- GAGTTGCACATCTGACTCTCG -3'
(R):5'- aaaggggagtgggtggg -3'
Posted On 2014-05-09