Incidental Mutation 'R0010:Sec24c'
ID 32507
Institutional Source Beutler Lab
Gene Symbol Sec24c
Ensembl Gene ENSMUSG00000039367
Gene Name SEC24 homolog C, COPII coat complex component
Synonyms 2610204K03Rik
MMRRC Submission 038305-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0010 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 20724376-20744920 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 20739329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000048657] [ENSMUST00000223751] [ENSMUST00000224791]
AlphaFold G3X972
Predicted Effect probably benign
Transcript: ENSMUST00000048657
SMART Domains Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367

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 benign
Transcript: ENSMUST00000223751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224722
Predicted Effect probably benign
Transcript: ENSMUST00000224791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225903
Predicted Effect probably benign
Transcript: ENSMUST00000228545
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (89/89)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,410,607 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Aoc1l3 A T 6: 48,965,840 (GRCm39) H616L probably damaging Het
Bbs7 T C 3: 36,661,866 (GRCm39) probably null Het
Cacna1h T C 17: 25,599,818 (GRCm39) K1566E probably damaging Het
Ccdc73 C T 2: 104,811,332 (GRCm39) probably benign Het
Cd74 A T 18: 60,942,143 (GRCm39) H124L probably benign Het
Cd74 A T 18: 60,936,968 (GRCm39) probably benign Het
Cdk5rap2 T C 4: 70,161,696 (GRCm39) E270G probably benign Het
Ces2a G A 8: 105,468,028 (GRCm39) D520N probably benign Het
Cldnd1 T A 16: 58,551,622 (GRCm39) probably benign Het
Cox17 T A 16: 38,167,532 (GRCm39) C24S possibly damaging Het
Cyp2b9 T A 7: 25,886,178 (GRCm39) probably benign Het
Dennd4a T C 9: 64,803,997 (GRCm39) L1112P probably benign Het
Dennd4c T C 4: 86,699,814 (GRCm39) S222P probably damaging Het
Dhx37 T A 5: 125,508,680 (GRCm39) Q85L probably benign Het
Egfem1 G T 3: 29,637,068 (GRCm39) C192F probably damaging Het
Eif3f A T 7: 108,540,212 (GRCm39) N336Y possibly damaging Het
Evc2 T A 5: 37,574,793 (GRCm39) L1016Q probably damaging Het
Fam114a2 G T 11: 57,404,982 (GRCm39) T40N probably damaging Het
Fam135b T C 15: 71,493,881 (GRCm39) K16R probably damaging Het
Fcho1 A G 8: 72,162,643 (GRCm39) Y725H probably damaging Het
Frem1 T C 4: 82,918,335 (GRCm39) I536V probably benign Het
Galnt2l G A 8: 122,997,337 (GRCm39) probably benign Het
Ginm1 T C 10: 7,651,138 (GRCm39) probably benign Het
Glrb A T 3: 80,767,622 (GRCm39) probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10320 T C 13: 98,626,054 (GRCm39) Y110C probably damaging Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gm5422 A G 10: 31,125,750 (GRCm39) noncoding transcript Het
Igkv6-29 A T 6: 70,115,754 (GRCm39) probably benign Het
Inpp5d G A 1: 87,625,268 (GRCm39) probably null Het
Itpr3 T G 17: 27,339,951 (GRCm39) V2610G probably damaging Het
Kmt5c T A 7: 4,749,207 (GRCm39) M88K probably benign Het
Lrp12 C T 15: 39,741,672 (GRCm39) A367T probably damaging Het
Ltbp1 A G 17: 75,670,386 (GRCm39) T1476A probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Milr1 T G 11: 106,657,829 (GRCm39) *209G probably null Het
Mitf A G 6: 97,784,242 (GRCm39) K33R probably benign Het
Mon2 A C 10: 122,868,599 (GRCm39) S485A probably damaging Het
Mpdu1 C T 11: 69,549,667 (GRCm39) G47R probably damaging Het
Ms4a4d A G 19: 11,532,190 (GRCm39) N112S probably damaging Het
Mybpc3 G A 2: 90,965,178 (GRCm39) W1082* probably null Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Naa15 A T 3: 51,343,634 (GRCm39) probably null Het
Nav3 A G 10: 109,659,087 (GRCm39) probably benign Het
Nek7 T A 1: 138,471,942 (GRCm39) Q66L possibly damaging Het
Nktr G A 9: 121,570,232 (GRCm39) probably benign Het
Nlgn1 G T 3: 25,490,006 (GRCm39) probably benign Het
Npr1 T C 3: 90,362,139 (GRCm39) E1002G probably damaging Het
Nup133 A T 8: 124,631,318 (GRCm39) I1072N probably damaging Het
Oc90 C T 15: 65,748,397 (GRCm39) C371Y probably damaging Het
Or5ak24 A T 2: 85,260,239 (GRCm39) D311E probably benign Het
Or7g20 A T 9: 18,946,618 (GRCm39) L66F probably damaging Het
Or8b42 A T 9: 38,342,216 (GRCm39) I213F possibly damaging Het
Pradc1 A T 6: 85,424,213 (GRCm39) N44K probably damaging Het
Pradc1 T C 6: 85,424,602 (GRCm39) D116G probably damaging Het
Ptprk G A 10: 28,461,965 (GRCm39) C91Y probably damaging Het
Pus7 T C 5: 23,952,843 (GRCm39) I491V probably benign Het
Rock1 T A 18: 10,084,380 (GRCm39) D951V probably damaging Het
Scgb2b26 T A 7: 33,643,774 (GRCm39) E55D probably damaging Het
Scn8a T C 15: 100,911,454 (GRCm39) V958A probably damaging Het
Sec14l1 T C 11: 117,034,596 (GRCm39) probably benign Het
Sema6b C T 17: 56,431,105 (GRCm39) E853K probably benign Het
Sgk1 G A 10: 21,873,337 (GRCm39) probably null Het
Shprh C T 10: 11,027,675 (GRCm39) T94I probably benign Het
Slc16a3 T C 11: 120,847,531 (GRCm39) S240P probably benign Het
Slc5a8 T C 10: 88,722,452 (GRCm39) V95A probably benign Het
Smg1 A T 7: 117,771,082 (GRCm39) probably benign Het
Spta1 G A 1: 174,045,509 (GRCm39) V1556I probably benign Het
Trappc14 T C 5: 138,258,555 (GRCm39) probably null Het
Trappc4 G A 9: 44,316,528 (GRCm39) probably benign Het
Tubgcp6 A G 15: 88,987,386 (GRCm39) S1188P probably benign Het
Txlna T G 4: 129,522,879 (GRCm39) D487A probably benign Het
Ube2d2b T C 5: 107,978,502 (GRCm39) F51S possibly damaging Het
Vmn2r6 G A 3: 64,466,966 (GRCm39) Q178* probably null Het
Wdfy3 T C 5: 101,996,215 (GRCm39) T3234A probably damaging Het
Ylpm1 C A 12: 85,075,800 (GRCm39) Q384K probably damaging Het
Zbtb41 T G 1: 139,351,268 (GRCm39) V127G probably damaging Het
Zfp605 T A 5: 110,275,400 (GRCm39) C173S probably benign Het
Zfp608 A T 18: 55,028,286 (GRCm39) probably benign Het
Zhx2 T C 15: 57,684,670 (GRCm39) V13A possibly damaging 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
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
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'- GATGCTCAATGCCTGCTTGCTG -3'
(R):5'- AGCCCGAGACTCACTGACATTGAC -3'

Sequencing Primer
(F):5'- CAATGCCATCAGAACTGGTCTTG -3'
(R):5'- TGACATTGACTAGGAAGCCATC -3'
Posted On 2013-05-09