Incidental Mutation 'R8481:Sec24d'
ID 657517
Institutional Source Beutler Lab
Gene Symbol Sec24d
Ensembl Gene ENSMUSG00000039234
Gene Name SEC24 homolog D, COPII coat complex component
Synonyms LOC383951, 2310020L09Rik
MMRRC Submission 067925-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8481 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 123061104-123159290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123147073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 677 (L677H)
Ref Sequence ENSEMBL: ENSMUSP00000035823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047923]
AlphaFold Q6NXL1
Predicted Effect probably damaging
Transcript: ENSMUST00000047923
AA Change: L677H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: L677H

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,398,381 (GRCm39) Y380* probably null Het
Apob T A 12: 8,044,807 (GRCm39) probably null Het
Aste1 G A 9: 105,274,189 (GRCm39) R143Q possibly damaging Het
BC024139 T C 15: 76,004,882 (GRCm39) D598G probably damaging Het
Bpifb9a T C 2: 154,111,399 (GRCm39) V551A probably benign Het
Ccdc88b A T 19: 6,831,900 (GRCm39) L427Q probably damaging Het
Cept1 A G 3: 106,412,569 (GRCm39) V301A probably benign Het
Chuk G T 19: 44,084,678 (GRCm39) H306Q probably benign Het
Cryzl1 C A 16: 91,504,161 (GRCm39) E69* probably null Het
Cul5 A T 9: 53,558,123 (GRCm39) D160E probably benign Het
Dlec1 G A 9: 118,972,335 (GRCm39) probably null Het
Dnah12 A G 14: 26,575,753 (GRCm39) M2954V probably benign Het
Dnah5 T A 15: 28,419,941 (GRCm39) D3746E probably benign Het
Dnm1 A G 2: 32,230,490 (GRCm39) V108A probably benign Het
Dpp9 C A 17: 56,501,467 (GRCm39) D582Y possibly damaging Het
Evi2 T A 11: 79,406,288 (GRCm39) probably benign Het
Got2 T A 8: 96,615,152 (GRCm39) probably benign Het
Gria2 A T 3: 80,708,998 (GRCm39) H61Q possibly damaging Het
Hnrnpa2b1 C T 6: 51,444,391 (GRCm39) V8I probably benign Het
Impg2 A G 16: 56,072,629 (GRCm39) I354V possibly damaging Het
Letm2 T C 8: 26,070,375 (GRCm39) K421R possibly damaging Het
Lrp1 T C 10: 127,404,779 (GRCm39) D1974G probably damaging Het
Magi2 A T 5: 20,594,152 (GRCm39) E5D possibly damaging Het
Mprip T A 11: 59,648,982 (GRCm39) Y895* probably null Het
Myo5c T C 9: 75,208,726 (GRCm39) F1679S probably damaging Het
Neb T C 2: 52,114,597 (GRCm39) K4221E probably damaging Het
Nek4 A G 14: 30,685,991 (GRCm39) Y308C probably damaging Het
Nrsn1 T C 13: 25,437,598 (GRCm39) N110S probably damaging Het
Or11a4 T A 17: 37,536,295 (GRCm39) I93K probably damaging Het
Or4k40 T A 2: 111,250,994 (GRCm39) I101F possibly damaging Het
Padi2 A G 4: 140,660,564 (GRCm39) Q348R probably benign Het
Pdgfrb C T 18: 61,198,814 (GRCm39) T324I probably benign Het
Pon3 C T 6: 5,221,715 (GRCm39) R305H probably benign Het
Prlhr A G 19: 60,456,125 (GRCm39) V147A possibly damaging Het
Ptpn21 T C 12: 98,655,153 (GRCm39) T605A probably benign Het
Rabep1 T C 11: 70,777,953 (GRCm39) S162P probably damaging Het
Rgs7bp A G 13: 105,190,716 (GRCm39) S3P probably damaging Het
Slc13a3 T C 2: 165,275,958 (GRCm39) R263G probably damaging Het
Slu7 C A 11: 43,328,320 (GRCm39) L45M probably damaging Het
Slu7 T A 11: 43,328,321 (GRCm39) L45Q probably damaging Het
Sp140 A G 1: 85,569,512 (GRCm39) D374G probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Tex36 A T 7: 133,189,189 (GRCm39) S128T probably damaging Het
Tpbg T C 9: 85,726,138 (GRCm39) S36P unknown Het
Tubgcp2 C A 7: 139,613,588 (GRCm39) D30Y probably damaging Het
Vmn1r19 T C 6: 57,381,932 (GRCm39) S162P 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
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
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'- AGTCACACTGCCAAAGATTATGTAC -3'
(R):5'- ATGGCCGCCATTTCCACATC -3'

Sequencing Primer
(F):5'- CCCTGTAAGTATGCTAAATCA -3'
(R):5'- GGTGTTGTTCATGAATATTCCACC -3'
Posted On 2021-01-18