Incidental Mutation 'R8872:Sec24d'
ID 700901
Institutional Source Beutler Lab
Gene Symbol Sec24d
Ensembl Gene ENSMUSG00000039234
Gene Name SEC24 homolog D, COPII coat complex component
Synonyms LOC383951, 2310020L09Rik
MMRRC Submission 068743-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8872 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 123061104-123159290 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 123148585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047923]
AlphaFold Q6NXL1
Predicted Effect probably benign
Transcript: ENSMUST00000047923
SMART Domains Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234

DomainStartEndE-ValueType
low complexity region 46 71 N/A INTRINSIC
low complexity region 75 87 N/A INTRINSIC
low complexity region 136 160 N/A INTRINSIC
low complexity region 197 222 N/A INTRINSIC
low complexity region 238 256 N/A INTRINSIC
Pfam:zf-Sec23_Sec24 360 398 1.8e-16 PFAM
Pfam:Sec23_trunk 437 681 3.6e-88 PFAM
Pfam:Sec23_BS 686 770 2e-20 PFAM
Pfam:Sec23_helical 783 884 1e-27 PFAM
Pfam:Gelsolin 899 974 4.2e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (74/75)
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. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. A hypomorphic gene trap allele results in lethality during organogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,401,164 (GRCm39) S150G possibly damaging Het
Alpk2 A T 18: 65,413,977 (GRCm39) S1579R probably damaging Het
Ank2 C T 3: 126,791,525 (GRCm39) E814K possibly damaging Het
Cep57 A G 9: 13,737,980 (GRCm39) probably benign Het
Cntnap4 A T 8: 113,585,759 (GRCm39) R1127S possibly damaging Het
Comt C A 16: 18,245,239 (GRCm39) probably benign Het
Crlf3 T C 11: 79,938,440 (GRCm39) N399S Het
Crls1 T A 2: 132,691,819 (GRCm39) S115T probably benign Het
Dixdc1 A G 9: 50,614,453 (GRCm39) S199P possibly damaging Het
Dsc3 T C 18: 20,122,679 (GRCm39) T82A probably benign Het
Efcab3 T G 11: 104,760,880 (GRCm39) L2411R probably benign Het
Exosc6 T A 8: 111,783,784 (GRCm39) V261E probably damaging Het
Fbxw17 C T 13: 50,586,300 (GRCm39) S361L probably benign Het
Gfap T A 11: 102,786,620 (GRCm39) N157Y possibly damaging Het
Gigyf2 A T 1: 87,307,725 (GRCm39) D177V unknown Het
Gls2 A T 10: 128,040,535 (GRCm39) Q312L probably benign Het
Gpr155 C T 2: 73,197,936 (GRCm39) V395I probably benign Het
Greb1l A T 18: 10,529,684 (GRCm39) M889L probably benign Het
Gucy1a1 T A 3: 82,016,049 (GRCm39) D313V probably damaging Het
H2-T5 T A 17: 36,476,293 (GRCm39) I324F probably benign Het
Herpud1 C T 8: 95,113,213 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il27 A C 7: 126,190,194 (GRCm39) L140R probably damaging Het
Jarid2 T C 13: 45,055,984 (GRCm39) S397P possibly damaging Het
Kdm5a A C 6: 120,365,101 (GRCm39) D334A probably damaging Het
Lman2 T C 13: 55,496,197 (GRCm39) T283A probably benign Het
Lrfn2 C T 17: 49,378,277 (GRCm39) Q453* probably null Het
Lrrfip2 A G 9: 111,034,824 (GRCm39) E171G possibly damaging Het
Mboat1 T A 13: 30,410,397 (GRCm39) Y285N probably damaging Het
Med15 C A 16: 17,470,605 (GRCm39) S734I probably damaging Het
Mgat4c T A 10: 102,224,146 (GRCm39) I120N probably damaging Het
Ms4a4d T C 19: 11,530,251 (GRCm39) M104T possibly damaging Het
Mtf2 A T 5: 108,247,051 (GRCm39) M330L probably benign Het
Myoc T C 1: 162,475,013 (GRCm39) V188A probably benign Het
Nos2 T A 11: 78,839,949 (GRCm39) I686N probably damaging Het
Npffr1 T C 10: 61,461,794 (GRCm39) V310A probably benign Het
Nrap T C 19: 56,308,627 (GRCm39) *1729W probably null Het
Odam A G 5: 88,035,797 (GRCm39) probably null Het
Olfm4 G T 14: 80,258,943 (GRCm39) R397L probably damaging Het
Or1p1c T G 11: 74,160,120 (GRCm39) probably benign Het
Polr1b T C 2: 128,957,613 (GRCm39) V556A probably damaging Het
Prl3d3 A G 13: 27,346,324 (GRCm39) D186G possibly damaging Het
Psmc5 C A 11: 106,152,746 (GRCm39) Y189* probably null Het
Rasgrp4 A G 7: 28,838,521 (GRCm39) Y123C possibly damaging Het
Rtn4 A G 11: 29,658,633 (GRCm39) E929G probably benign Het
Scrn2 A T 11: 96,922,961 (GRCm39) I135F probably damaging Het
Secisbp2l T C 2: 125,594,892 (GRCm39) T523A probably benign Het
Skic3 T C 13: 76,333,326 (GRCm39) L1525P probably damaging Het
Slain1 T A 14: 103,925,841 (GRCm39) probably null Het
Slc22a29 A G 19: 8,137,931 (GRCm39) V548A probably damaging Het
Slc25a32 T C 15: 38,969,339 (GRCm39) I65V probably benign Het
Slc30a7 A T 3: 115,740,317 (GRCm39) M378K possibly damaging Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Spata31h1 A T 10: 82,128,619 (GRCm39) S1464T probably benign Het
Spdye4b G T 5: 143,187,815 (GRCm39) K156N probably damaging Het
Sptb A G 12: 76,658,813 (GRCm39) Y1241H probably benign Het
Ssu2 G A 6: 112,357,956 (GRCm39) T129I probably damaging Het
Supt16 A G 14: 52,411,544 (GRCm39) V613A probably benign Het
Sycp3 A T 10: 88,302,388 (GRCm39) E126V probably damaging Het
Tatdn2 A T 6: 113,681,170 (GRCm39) Y401F probably damaging Het
Tigd4 T C 3: 84,501,547 (GRCm39) S155P probably benign Het
Tnrc6b A G 15: 80,802,290 (GRCm39) N1502S probably benign Het
Ttf2 A G 3: 100,870,644 (GRCm39) V143A probably benign Het
Ttn T A 2: 76,618,747 (GRCm39) D16179V probably damaging Het
Vmn2r106 A T 17: 20,488,401 (GRCm39) M666K probably benign Het
Vwa5b1 A T 4: 138,305,956 (GRCm39) V914D probably damaging Het
Wnk2 T C 13: 49,210,960 (GRCm39) M1632V probably benign Het
Zbtb26 T A 2: 37,326,913 (GRCm39) N41I probably damaging Het
Zc3h12a T C 4: 125,020,412 (GRCm39) N144D probably damaging Het
Zfp266 A T 9: 20,411,275 (GRCm39) C301S probably benign Het
Zfp580 A G 7: 5,056,216 (GRCm39) H192R possibly damaging Het
Zfp748 A G 13: 67,689,914 (GRCm39) C449R probably damaging Het
Zp2 T C 7: 119,733,025 (GRCm39) I612V probably benign Het
Other mutations in Sec24d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Sec24d APN 3 123,143,658 (GRCm39) missense probably benign 0.00
IGL01621:Sec24d APN 3 123,087,807 (GRCm39) critical splice acceptor site probably null
IGL01866:Sec24d APN 3 123,087,244 (GRCm39) nonsense probably null
IGL02064:Sec24d APN 3 123,137,463 (GRCm39) splice site probably benign
IGL02125:Sec24d APN 3 123,152,607 (GRCm39) missense probably damaging 1.00
IGL02173:Sec24d APN 3 123,147,330 (GRCm39) missense probably damaging 1.00
IGL03239:Sec24d APN 3 123,130,138 (GRCm39) missense probably benign 0.00
Scanty UTSW 3 123,148,596 (GRCm39) missense probably damaging 1.00
3-1:Sec24d UTSW 3 123,147,279 (GRCm39) missense possibly damaging 0.94
PIT4531001:Sec24d UTSW 3 123,136,827 (GRCm39) missense probably damaging 1.00
R0008:Sec24d UTSW 3 123,144,525 (GRCm39) splice site probably benign
R0838:Sec24d UTSW 3 123,099,485 (GRCm39) missense probably benign 0.08
R1775:Sec24d UTSW 3 123,130,166 (GRCm39) missense probably damaging 1.00
R1895:Sec24d UTSW 3 123,147,043 (GRCm39) missense probably benign 0.04
R1946:Sec24d UTSW 3 123,147,043 (GRCm39) missense probably benign 0.04
R2238:Sec24d UTSW 3 123,143,543 (GRCm39) splice site probably null
R2504:Sec24d UTSW 3 123,147,255 (GRCm39) missense possibly damaging 0.69
R2846:Sec24d UTSW 3 123,144,395 (GRCm39) missense probably damaging 0.98
R2895:Sec24d UTSW 3 123,136,800 (GRCm39) missense probably damaging 1.00
R3428:Sec24d UTSW 3 123,137,572 (GRCm39) splice site probably benign
R4573:Sec24d UTSW 3 123,152,519 (GRCm39) missense probably damaging 1.00
R4668:Sec24d UTSW 3 123,149,423 (GRCm39) missense probably damaging 0.98
R4706:Sec24d UTSW 3 123,149,427 (GRCm39) missense possibly damaging 0.80
R4896:Sec24d UTSW 3 123,148,596 (GRCm39) missense probably damaging 1.00
R4982:Sec24d UTSW 3 123,093,255 (GRCm39) missense probably benign 0.29
R5030:Sec24d UTSW 3 123,152,550 (GRCm39) missense probably damaging 0.98
R5041:Sec24d UTSW 3 123,087,880 (GRCm39) missense probably damaging 0.96
R5078:Sec24d UTSW 3 123,084,201 (GRCm39) missense probably benign 0.00
R5108:Sec24d UTSW 3 123,099,434 (GRCm39) splice site probably null
R5174:Sec24d UTSW 3 123,158,575 (GRCm39) missense probably damaging 0.99
R5661:Sec24d UTSW 3 123,136,791 (GRCm39) missense possibly damaging 0.95
R5661:Sec24d UTSW 3 123,136,734 (GRCm39) missense probably damaging 1.00
R5775:Sec24d UTSW 3 123,084,109 (GRCm39) missense probably benign 0.00
R5859:Sec24d UTSW 3 123,072,961 (GRCm39) unclassified probably benign
R5944:Sec24d UTSW 3 123,087,230 (GRCm39) missense probably benign 0.01
R6053:Sec24d UTSW 3 123,072,871 (GRCm39) nonsense probably null
R6515:Sec24d UTSW 3 123,136,719 (GRCm39) missense possibly damaging 0.92
R6552:Sec24d UTSW 3 123,084,201 (GRCm39) missense probably benign 0.00
R6557:Sec24d UTSW 3 123,136,736 (GRCm39) missense probably damaging 1.00
R6593:Sec24d UTSW 3 123,147,061 (GRCm39) missense probably damaging 1.00
R6594:Sec24d UTSW 3 123,087,412 (GRCm39) missense probably damaging 1.00
R6842:Sec24d UTSW 3 123,136,868 (GRCm39) missense probably benign 0.00
R7072:Sec24d UTSW 3 123,124,000 (GRCm39) missense probably damaging 1.00
R7481:Sec24d UTSW 3 123,144,412 (GRCm39) missense probably damaging 1.00
R7554:Sec24d UTSW 3 123,149,423 (GRCm39) missense probably damaging 1.00
R8270:Sec24d UTSW 3 123,099,535 (GRCm39) missense possibly damaging 0.90
R8481:Sec24d UTSW 3 123,147,073 (GRCm39) missense probably damaging 1.00
R8713:Sec24d UTSW 3 123,137,541 (GRCm39) missense probably damaging 1.00
R8922:Sec24d UTSW 3 123,144,488 (GRCm39) missense probably damaging 1.00
R8974:Sec24d UTSW 3 123,099,498 (GRCm39) missense probably damaging 1.00
R9015:Sec24d UTSW 3 123,121,287 (GRCm39) missense probably benign 0.43
R9050:Sec24d UTSW 3 123,144,374 (GRCm39) missense probably benign 0.00
R9065:Sec24d UTSW 3 123,149,452 (GRCm39) missense probably damaging 1.00
R9128:Sec24d UTSW 3 123,087,810 (GRCm39) missense probably benign
R9447:Sec24d UTSW 3 123,084,162 (GRCm39) missense probably benign 0.00
R9701:Sec24d UTSW 3 123,063,321 (GRCm39) missense probably damaging 1.00
R9758:Sec24d UTSW 3 123,136,803 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTTGATCGCTTAAACCATTG -3'
(R):5'- GCTACCCAATGAGTCTCAGCTG -3'

Sequencing Primer
(F):5'- GCTTAAACCATTGAAATGTTACAGCG -3'
(R):5'- CTGACTCACCGAGCTATGAGATTAG -3'
Posted On 2022-03-03