Incidental Mutation 'R5210:Sec24c'
ID 403104
Institutional Source Beutler Lab
Gene Symbol Sec24c
Ensembl Gene ENSMUSG00000039367
Gene Name SEC24 homolog C, COPII coat complex component
Synonyms 2610204K03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5210 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20724376-20744920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20741872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 769 (E769G)
Ref Sequence ENSEMBL: ENSMUSP00000153434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048016] [ENSMUST00000048657] [ENSMUST00000223751] [ENSMUST00000224791]
AlphaFold G3X972
Predicted Effect probably benign
Transcript: ENSMUST00000048016
SMART Domains Protein: ENSMUSP00000040370
Gene: ENSMUSG00000039357

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_tran_10_N 70 178 2.6e-12 PFAM
Pfam:Glyco_transf_10 204 403 2.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000048657
AA Change: E845G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: E845G

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 noncoding transcript
Transcript: ENSMUST00000180987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183515
Predicted Effect probably damaging
Transcript: ENSMUST00000223751
AA Change: E769G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224793
Predicted Effect probably benign
Transcript: ENSMUST00000224791
Meta Mutation Damage Score 0.8951 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 T A 5: 35,994,416 (GRCm39) V342E probably benign Het
Adgre4 T A 17: 56,092,029 (GRCm39) N96K probably damaging Het
Aopep A G 13: 63,215,924 (GRCm39) I399V probably benign Het
Bltp1 T C 3: 37,087,414 (GRCm39) V710A possibly damaging Het
Ccdc171 A G 4: 83,473,093 (GRCm39) E174G probably damaging Het
Col11a1 T C 3: 113,946,806 (GRCm39) F1026S probably damaging Het
Coro1c A G 5: 113,983,367 (GRCm39) L387P probably damaging Het
Dsg1c C T 18: 20,407,758 (GRCm39) T368I probably damaging Het
Exoc3l4 C A 12: 111,395,275 (GRCm39) probably benign Het
Extl1 T C 4: 134,087,895 (GRCm39) D453G probably benign Het
Gm21136 T C 7: 38,567,165 (GRCm39) noncoding transcript Het
H3c4 G T 13: 23,760,015 (GRCm39) G14C possibly damaging Het
Ifi208 T C 1: 173,510,831 (GRCm39) S329P probably benign Het
Iscu T A 5: 113,915,034 (GRCm39) L182* probably null Het
Klra6 T A 6: 129,995,855 (GRCm39) K168* probably null Het
Map3k5 T C 10: 19,900,647 (GRCm39) S274P possibly damaging Het
Megf6 G T 4: 154,354,273 (GRCm39) probably benign Het
Mmp12 T A 9: 7,349,729 (GRCm39) Y53* probably null Het
Nucb2 T A 7: 116,128,222 (GRCm39) Y278N probably damaging Het
Numa1 C A 7: 101,649,188 (GRCm39) A973E probably benign Het
Or1o4 C A 17: 37,590,824 (GRCm39) K162N probably benign Het
Or2w1b A T 13: 21,300,222 (GRCm39) Y120F probably damaging Het
Or5b123 A G 19: 13,596,763 (GRCm39) K79R probably damaging Het
Or7g18 T A 9: 18,787,103 (GRCm39) L157Q probably damaging Het
Pcdhga3 C A 18: 37,808,963 (GRCm39) T472K probably benign Het
Pclo A G 5: 14,763,464 (GRCm39) D694G probably damaging Het
Plch1 A G 3: 63,607,199 (GRCm39) probably null Het
Pou3f2 C T 4: 22,487,324 (GRCm39) D270N probably damaging Het
Prrc2a G A 17: 35,372,596 (GRCm39) R1682W probably damaging Het
Rb1 A G 14: 73,436,751 (GRCm39) F838S probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Tmem63c A T 12: 87,136,172 (GRCm39) E796V probably benign Het
Tomm70a G A 16: 56,953,614 (GRCm39) probably null Het
Tpcn1 G A 5: 120,677,279 (GRCm39) T676I probably damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign 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
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
R5646:Sec24c UTSW 14 20,729,641 (GRCm39) missense probably benign 0.01
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'- AAGAGAATGGAGCCCTACTGC -3'
(R):5'- AGTCAGCAGTCATGGGTCTG -3'

Sequencing Primer
(F):5'- CAGAAGTTGGGGTATATTCAATGG -3'
(R):5'- GGGTCTGCTTCCCATCACATG -3'
Posted On 2016-07-22