Incidental Mutation 'R5646:Sec24c'
ID 441182
Institutional Source Beutler Lab
Gene Symbol Sec24c
Ensembl Gene ENSMUSG00000039367
Gene Name SEC24 homolog C, COPII coat complex component
Synonyms 2610204K03Rik
MMRRC Submission 043294-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5646 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 20724376-20744920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20729641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 73 (A73E)
Ref Sequence ENSEMBL: ENSMUSP00000152917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048657] [ENSMUST00000223751] [ENSMUST00000224492] [ENSMUST00000224754] [ENSMUST00000225108] [ENSMUST00000224876]
AlphaFold G3X972
Predicted Effect probably benign
Transcript: ENSMUST00000048657
AA Change: A73E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: A73E

DomainStartEndE-ValueType
low complexity region 28 47 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
low complexity region 183 194 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 256 279 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
Pfam:zf-Sec23_Sec24 424 462 8.2e-17 PFAM
Pfam:Sec23_trunk 501 745 7.3e-94 PFAM
Pfam:Sec23_BS 750 834 8e-20 PFAM
Pfam:Sec23_helical 847 948 2.3e-30 PFAM
Pfam:Gelsolin 963 1038 1.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223751
AA Change: A73E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224061
Predicted Effect probably benign
Transcript: ENSMUST00000224492
AA Change: A73E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224718
Predicted Effect probably benign
Transcript: ENSMUST00000224754
Predicted Effect probably benign
Transcript: ENSMUST00000225108
AA Change: A73E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224963
Predicted Effect probably benign
Transcript: ENSMUST00000228545
Predicted Effect probably benign
Transcript: ENSMUST00000224876
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display complete embryonic lethality between implantation and placentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Atp2a1 A G 7: 126,052,277 (GRCm39) V402A probably benign Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Cyp2d9 A G 15: 82,336,665 (GRCm39) T5A probably benign Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Hip1 G A 5: 135,457,595 (GRCm39) R704W probably damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mmp9 T A 2: 164,790,970 (GRCm39) H119Q probably benign Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Sptbn5 A T 2: 119,879,292 (GRCm39) noncoding transcript Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tmtc1 G A 6: 148,148,329 (GRCm39) A751V probably damaging Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Ttc6 A T 12: 57,622,805 (GRCm39) K68M probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) probably null Het
Other mutations in Sec24c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Sec24c APN 14 20,743,271 (GRCm39) missense probably benign 0.03
IGL00574:Sec24c APN 14 20,742,463 (GRCm39) missense probably damaging 0.99
IGL01514:Sec24c APN 14 20,732,839 (GRCm39) missense possibly damaging 0.78
IGL01924:Sec24c APN 14 20,739,757 (GRCm39) missense probably damaging 0.96
IGL02094:Sec24c APN 14 20,738,470 (GRCm39) missense probably damaging 1.00
IGL02677:Sec24c APN 14 20,739,710 (GRCm39) missense probably damaging 0.98
IGL02871:Sec24c APN 14 20,742,950 (GRCm39) missense probably benign
Kahuna UTSW 14 20,740,841 (GRCm39) missense probably damaging 0.99
R0010:Sec24c UTSW 14 20,739,329 (GRCm39) unclassified probably benign
R0335:Sec24c UTSW 14 20,738,783 (GRCm39) splice site probably null
R0487:Sec24c UTSW 14 20,733,467 (GRCm39) missense probably benign 0.01
R0609:Sec24c UTSW 14 20,737,016 (GRCm39) missense probably damaging 1.00
R0626:Sec24c UTSW 14 20,738,505 (GRCm39) missense probably damaging 1.00
R0734:Sec24c UTSW 14 20,743,813 (GRCm39) missense probably damaging 1.00
R0854:Sec24c UTSW 14 20,739,408 (GRCm39) missense probably damaging 1.00
R1036:Sec24c UTSW 14 20,742,965 (GRCm39) missense probably benign 0.14
R1405:Sec24c UTSW 14 20,742,593 (GRCm39) splice site probably null
R1405:Sec24c UTSW 14 20,742,593 (GRCm39) splice site probably null
R1702:Sec24c UTSW 14 20,736,641 (GRCm39) missense probably null
R1765:Sec24c UTSW 14 20,738,922 (GRCm39) unclassified probably benign
R1913:Sec24c UTSW 14 20,739,179 (GRCm39) missense probably benign 0.06
R1920:Sec24c UTSW 14 20,736,955 (GRCm39) missense probably damaging 0.99
R2084:Sec24c UTSW 14 20,741,347 (GRCm39) missense probably benign 0.00
R3778:Sec24c UTSW 14 20,733,375 (GRCm39) missense possibly damaging 0.63
R4383:Sec24c UTSW 14 20,740,841 (GRCm39) missense probably damaging 0.99
R4385:Sec24c UTSW 14 20,740,841 (GRCm39) missense probably damaging 0.99
R4659:Sec24c UTSW 14 20,733,212 (GRCm39) missense probably damaging 0.99
R4798:Sec24c UTSW 14 20,743,780 (GRCm39) missense probably damaging 1.00
R4872:Sec24c UTSW 14 20,743,813 (GRCm39) missense probably damaging 1.00
R5210:Sec24c UTSW 14 20,741,872 (GRCm39) missense probably damaging 1.00
R5345:Sec24c UTSW 14 20,743,288 (GRCm39) missense probably benign 0.00
R5610:Sec24c UTSW 14 20,741,893 (GRCm39) missense probably damaging 1.00
R5614:Sec24c UTSW 14 20,732,806 (GRCm39) missense possibly damaging 0.92
R6460:Sec24c UTSW 14 20,740,868 (GRCm39) missense probably damaging 1.00
R7181:Sec24c UTSW 14 20,739,401 (GRCm39) missense probably damaging 1.00
R8228:Sec24c UTSW 14 20,739,975 (GRCm39) missense probably benign 0.05
R8512:Sec24c UTSW 14 20,740,920 (GRCm39) missense possibly damaging 0.67
R8679:Sec24c UTSW 14 20,742,927 (GRCm39) missense possibly damaging 0.89
R9340:Sec24c UTSW 14 20,729,598 (GRCm39) missense probably benign 0.00
RF010:Sec24c UTSW 14 20,738,783 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ATGAGAGTGGCGTGGTATCC -3'
(R):5'- AAGAGCAGGACATTAGTAGTACCTG -3'

Sequencing Primer
(F):5'- ATCCGTTTTGCTGTGAGGTCAG -3'
(R):5'- GGACATTAGTAGTACCTGTAACCTGG -3'
Posted On 2016-11-08