Incidental Mutation 'R0506:Sec24a'
ID 47597
Institutional Source Beutler Lab
Gene Symbol Sec24a
Ensembl Gene ENSMUSG00000036391
Gene Name SEC24 homolog A, COPII coat complex component
Synonyms 9430090N21Rik
MMRRC Submission 038701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0506 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 51583090-51649172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51634622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 101 (H101Q)
Ref Sequence ENSEMBL: ENSMUSP00000104720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038210] [ENSMUST00000064297] [ENSMUST00000109092] [ENSMUST00000109097]
AlphaFold Q3U2P1
Predicted Effect probably benign
Transcript: ENSMUST00000038210
AA Change: H101Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: H101Q

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 benign
Transcript: ENSMUST00000064297
AA Change: H101Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068065
Gene: ENSMUSG00000036391
AA Change: H101Q

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 424 462 3.5e-18 PFAM
Pfam:Sec23_trunk 498 589 1.3e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109092
AA Change: H101Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104720
Gene: ENSMUSG00000036391
AA Change: H101Q

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 3.9e-19 PFAM
Pfam:Sec23_trunk 497 588 1.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109097
AA Change: H101Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: H101Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154325
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (100/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 T A 7: 119,137,319 (GRCm39) C378* probably null Het
Ago3 T C 4: 126,311,045 (GRCm39) D56G possibly damaging Het
Ahnak G T 19: 8,986,492 (GRCm39) G2592V probably damaging Het
Aldh6a1 C T 12: 84,480,300 (GRCm39) G470D probably damaging Het
Ankub1 T A 3: 57,597,796 (GRCm39) N58I probably damaging Het
Apol7b G T 15: 77,309,728 (GRCm39) T23K probably benign Het
Arap2 G A 5: 62,763,474 (GRCm39) P1557S possibly damaging Het
Arhgap24 T C 5: 103,023,643 (GRCm39) Y136H probably damaging Het
Atp1a1 A G 3: 101,497,128 (GRCm39) F393L probably damaging Het
Bcdin3d A T 15: 99,368,873 (GRCm39) C109S probably damaging Het
Catsperd A G 17: 56,965,078 (GRCm39) K475R possibly damaging Het
Cblb A G 16: 52,024,843 (GRCm39) T913A probably benign Het
Cbx6 A G 15: 79,712,404 (GRCm39) L341P probably benign Het
Cd177 T C 7: 24,457,781 (GRCm39) Y159C probably damaging Het
Cdh20 A G 1: 110,027,844 (GRCm39) N530D probably damaging Het
Cdk8 T C 5: 146,235,682 (GRCm39) F270L probably damaging Het
Ces2c A T 8: 105,574,656 (GRCm39) T38S probably damaging Het
Chst14 T C 2: 118,758,202 (GRCm39) L357P probably damaging Het
Clca3b T A 3: 144,528,627 (GRCm39) probably benign Het
Cluh A G 11: 74,555,720 (GRCm39) S839G probably benign Het
Cnga4 T A 7: 105,056,947 (GRCm39) V350E probably damaging Het
Creb1 G A 1: 64,609,426 (GRCm39) G180R probably damaging Het
Csmd3 T C 15: 48,320,907 (GRCm39) E301G probably benign Het
Cyp4f18 A T 8: 72,749,844 (GRCm39) D268E probably benign Het
Dock5 A G 14: 68,022,241 (GRCm39) probably benign Het
Dpy19l4 T A 4: 11,289,715 (GRCm39) H332L probably benign Het
Dync2h1 T A 9: 7,113,153 (GRCm39) H224L probably benign Het
Dzip1l C A 9: 99,545,134 (GRCm39) Q585K possibly damaging Het
Erf C T 7: 24,943,801 (GRCm39) G510D probably damaging Het
Fanci T C 7: 79,081,926 (GRCm39) L623P probably benign Het
Fat1 T C 8: 45,475,988 (GRCm39) V1655A probably damaging Het
Fat4 T C 3: 38,942,463 (GRCm39) V452A probably benign Het
Gal3st4 C T 5: 138,264,151 (GRCm39) G283S probably benign Het
Gm5422 A G 10: 31,126,318 (GRCm39) noncoding transcript Het
Gnal C T 18: 67,221,744 (GRCm39) T49I unknown Het
Gng5 A G 3: 146,209,103 (GRCm39) N57S probably damaging Het
Herc1 A G 9: 66,355,441 (GRCm39) I2231V probably damaging Het
Hgfac G T 5: 35,201,584 (GRCm39) G272W probably damaging Het
Hmcn1 T A 1: 150,618,092 (GRCm39) D1265V possibly damaging Het
Ifi207 T A 1: 173,563,878 (GRCm39) Q47L possibly damaging Het
Klhl40 G A 9: 121,607,133 (GRCm39) E98K probably damaging Het
Lepr G T 4: 101,630,207 (GRCm39) probably benign Het
Lyst A G 13: 13,812,600 (GRCm39) H1004R probably benign Het
Map3k1 T A 13: 111,892,298 (GRCm39) R986* probably null Het
Mmp1b C A 9: 7,387,013 (GRCm39) Q66H possibly damaging Het
Mpo T C 11: 87,694,330 (GRCm39) S107P probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Myo7b A G 18: 32,097,439 (GRCm39) probably null Het
Myom1 T C 17: 71,399,215 (GRCm39) probably benign Het
Nalcn C T 14: 123,834,026 (GRCm39) V50I possibly damaging Het
Negr1 A G 3: 156,866,385 (GRCm39) probably benign Het
Nlrc5 T G 8: 95,219,753 (GRCm39) probably benign Het
Nyap2 G A 1: 81,065,029 (GRCm39) D14N probably damaging Het
Or10w1 T A 19: 13,632,261 (GRCm39) I151N possibly damaging Het
Or2h1 C A 17: 37,404,203 (GRCm39) G188W probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Parp14 A T 16: 35,661,779 (GRCm39) S1419T possibly damaging Het
Piezo2 A G 18: 63,160,615 (GRCm39) F2347S probably damaging Het
Pigf A G 17: 87,316,337 (GRCm39) V147A probably benign Het
Pkhd1 A T 1: 20,629,693 (GRCm39) M637K probably benign Het
Plce1 T C 19: 38,748,582 (GRCm39) I1771T probably benign Het
Ppp6c A T 2: 39,096,660 (GRCm39) probably benign Het
Prag1 T C 8: 36,570,854 (GRCm39) V479A possibly damaging Het
Prss33 A T 17: 24,054,079 (GRCm39) D42E probably benign Het
Psmb10 A G 8: 106,664,177 (GRCm39) V64A possibly damaging Het
Psmd14 A G 2: 61,630,407 (GRCm39) T306A probably benign Het
Psmg1 C T 16: 95,790,687 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,266,671 (GRCm39) probably null Het
Reln C T 5: 22,125,494 (GRCm39) V2730I probably damaging Het
Selenoi A G 5: 30,471,954 (GRCm39) N385S probably benign Het
Slc24a4 T C 12: 102,097,882 (GRCm39) probably null Het
Slc4a10 G A 2: 62,080,877 (GRCm39) S338N probably benign Het
Slfn3 A T 11: 83,103,986 (GRCm39) T286S probably damaging Het
Snx29 A G 16: 11,213,167 (GRCm39) D111G probably benign Het
Sp8 T C 12: 118,812,300 (GRCm39) S52P possibly damaging Het
Srek1 G T 13: 103,897,098 (GRCm39) T81K probably damaging Het
Sry C G Y: 2,662,864 (GRCm39) Q265H unknown Het
Taf3 A G 2: 9,945,804 (GRCm39) V600A probably benign Het
Tatdn2 C A 6: 113,679,550 (GRCm39) D298E probably benign Het
Tmem253 A T 14: 52,254,663 (GRCm39) probably benign Het
Tmem63a T A 1: 180,785,614 (GRCm39) probably null Het
Tmprss11b T C 5: 86,809,499 (GRCm39) D331G probably damaging Het
Tor1aip1 T A 1: 155,883,420 (GRCm39) K143* probably null Het
Trappc8 A T 18: 20,977,245 (GRCm39) N841K possibly damaging Het
Trio T C 15: 27,855,049 (GRCm39) Q711R probably benign Het
Trmt10b C A 4: 45,304,306 (GRCm39) T114N probably damaging Het
Trpv2 C A 11: 62,473,732 (GRCm39) A129D probably benign Het
Ttll4 T G 1: 74,727,777 (GRCm39) D846E probably benign Het
Ugt2a3 A G 5: 87,484,508 (GRCm39) L172P possibly damaging Het
Usp19 T A 9: 108,371,686 (GRCm39) F355Y probably damaging Het
Vmn1r209 C T 13: 22,990,114 (GRCm39) G192D probably damaging Het
Vmn2r107 T G 17: 20,578,021 (GRCm39) D443E probably benign Het
Wee2 A T 6: 40,440,187 (GRCm39) E445V probably benign Het
Zer1 A T 2: 29,991,819 (GRCm39) I680N probably damaging Het
Zfhx4 T C 3: 5,467,795 (GRCm39) L2651P probably damaging Het
Zfp692 C T 11: 58,199,881 (GRCm39) Q157* probably null Het
Zfp964 T A 8: 70,116,587 (GRCm39) C396S unknown 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
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
R1681:Sec24a UTSW 11 51,586,016 (GRCm39) missense probably damaging 0.98
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'- GTTTGAAGTGCAGGGTCTCCAGAAG -3'
(R):5'- AAGGCTATGATTCGCAACCTCCAG -3'

Sequencing Primer
(F):5'- CAGGGTCTCCAGAAGAAACATATTG -3'
(R):5'- ACAGTCGAACTACGGTGGTT -3'
Posted On 2013-06-12