Incidental Mutation 'R8974:Sec24d'
ID 683298
Institutional Source Beutler Lab
Gene Symbol Sec24d
Ensembl Gene ENSMUSG00000039234
Gene Name SEC24 homolog D, COPII coat complex component
Synonyms LOC383951, 2310020L09Rik
MMRRC Submission 068808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8974 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 123061104-123159290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123099498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 324 (D324N)
Ref Sequence ENSEMBL: ENSMUSP00000035823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047923]
AlphaFold Q6NXL1
Predicted Effect probably damaging
Transcript: ENSMUST00000047923
AA Change: D324N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: D324N

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 A G 17: 13,143,716 (GRCm39) V342A probably damaging Het
Acot4 T C 12: 84,090,515 (GRCm39) F404S probably benign Het
Alpk1 T C 3: 127,473,580 (GRCm39) T808A probably benign Het
Apba3 T C 10: 81,109,032 (GRCm39) V154A Het
Arhgap27 A T 11: 103,224,756 (GRCm39) F476I possibly damaging Het
Asah2 A T 19: 32,030,305 (GRCm39) D122E probably benign Het
Asb10 T C 5: 24,745,209 (GRCm39) I47V probably benign Het
Catsperd A G 17: 56,959,525 (GRCm39) T322A possibly damaging Het
Ccdc142 T C 6: 83,078,963 (GRCm39) V100A probably benign Het
Cdc5l A T 17: 45,715,621 (GRCm39) C664S possibly damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cep89 A G 7: 35,097,493 (GRCm39) S40G probably damaging Het
Csmd2 A G 4: 128,446,380 (GRCm39) K3315R Het
Cyp2d34 T C 15: 82,500,537 (GRCm39) E434G probably damaging Het
Degs1 A G 1: 182,107,278 (GRCm39) Y30H probably benign Het
Eps8l1 A G 7: 4,474,817 (GRCm39) D266G probably damaging Het
Fam168a A T 7: 100,484,611 (GRCm39) T234S probably benign Het
Fzd3 G T 14: 65,472,440 (GRCm39) Q443K possibly damaging Het
Galnt7 A G 8: 58,105,934 (GRCm39) S27P Het
Gpr162 T C 6: 124,837,876 (GRCm39) D258G probably damaging Het
Hdac2 A G 10: 36,862,340 (GRCm39) Y68C probably damaging Het
Lmbr1l A G 15: 98,810,408 (GRCm39) C68R probably damaging Het
Loxhd1 A G 18: 77,518,899 (GRCm39) T1902A possibly damaging Het
Lrrc4c T C 2: 97,459,992 (GRCm39) M206T probably damaging Het
Lrrc75b T C 10: 75,389,848 (GRCm39) T168A probably benign Het
Magi1 A G 6: 93,674,223 (GRCm39) F1003L probably damaging Het
Map1s T C 8: 71,366,994 (GRCm39) L633P probably damaging Het
Mapk11 G A 15: 89,028,014 (GRCm39) T341I probably benign Het
Mycbp2 A T 14: 103,361,857 (GRCm39) V4441D probably damaging Het
Nin T C 12: 70,124,932 (GRCm39) E130G Het
Nod2 T A 8: 89,390,433 (GRCm39) Y247N probably damaging Het
Nudcd3 A T 11: 6,143,163 (GRCm39) V169E probably benign Het
Or2w2 A T 13: 21,758,203 (GRCm39) I141N probably damaging Het
Or51v15-ps1 T C 7: 103,278,489 (GRCm39) Y226C unknown Het
Or6c200-ps1 A C 10: 128,869,905 (GRCm39) C269G probably damaging Het
Pcdh9 A C 14: 94,125,113 (GRCm39) N352K probably benign Het
Pfpl G A 19: 12,405,839 (GRCm39) G30D probably damaging Het
Pi15 A G 1: 17,691,675 (GRCm39) D159G possibly damaging Het
Plxna4 G T 6: 32,216,447 (GRCm39) R543S possibly damaging Het
Ppp1r12c C T 7: 4,486,698 (GRCm39) E543K probably damaging Het
Prkdc T A 16: 15,617,726 (GRCm39) probably null Het
Proca1 T C 11: 78,096,144 (GRCm39) S172P probably damaging Het
Ralgapa1 C A 12: 55,723,791 (GRCm39) M1578I probably benign Het
Rnf103 C A 6: 71,486,092 (GRCm39) A241E probably damaging Het
Rorb T C 19: 18,955,070 (GRCm39) D182G probably benign Het
Ryr3 T C 2: 112,742,624 (GRCm39) K485E possibly damaging Het
Serpina3f T A 12: 104,183,642 (GRCm39) I168N probably damaging Het
Sidt1 A T 16: 44,101,980 (GRCm39) *62R probably null Het
Slc22a27 A C 19: 7,903,751 (GRCm39) S129A probably damaging Het
Spata31e1 T C 13: 49,939,556 (GRCm39) D718G probably benign Het
Stab1 A G 14: 30,882,779 (GRCm39) V408A probably benign Het
Svil G T 18: 5,099,650 (GRCm39) G1729W probably damaging Het
Tbx20 A G 9: 24,681,082 (GRCm39) S137P probably damaging Het
Tcstv2c T A 13: 120,616,486 (GRCm39) D108E probably benign Het
Trem2 G A 17: 48,655,599 (GRCm39) R52Q probably damaging Het
Trim55 T C 3: 19,699,603 (GRCm39) S112P probably damaging Het
Vmn1r172 A T 7: 23,359,840 (GRCm39) M242L probably benign Het
Vmn2r91 G A 17: 18,325,636 (GRCm39) A85T probably benign Het
Zc3h3 T C 15: 75,657,452 (GRCm39) T580A probably benign Het
Zfp451 A G 1: 33,816,535 (GRCm39) C472R probably damaging 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
R8872:Sec24d UTSW 3 123,148,585 (GRCm39) splice site probably benign
R8922:Sec24d UTSW 3 123,144,488 (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'- GCATGTCCCTGGAGTGTAGATC -3'
(R):5'- TAACTGGATACTTTCCTGGAGTTTG -3'

Sequencing Primer
(F):5'- TAGACCGGATATTCCTCCTG -3'
(R):5'- ACTTTCCTGGAGTTTGGCATAAC -3'
Posted On 2021-10-11