Incidental Mutation 'R1541:Sec24a'
ID 171747
Institutional Source Beutler Lab
Gene Symbol Sec24a
Ensembl Gene ENSMUSG00000036391
Gene Name SEC24 homolog A, COPII coat complex component
Synonyms 9430090N21Rik
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1541 (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 A at 51634623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 101 (H101L)
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: H101L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: H101L

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: H101L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000068065
Gene: ENSMUSG00000036391
AA Change: H101L

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: H101L

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104720
Gene: ENSMUSG00000036391
AA Change: H101L

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: H101L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: H101L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K 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
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 2014-04-13