Incidental Mutation 'R9447:Sec24d'
ID 713981
Institutional Source Beutler Lab
Gene Symbol Sec24d
Ensembl Gene ENSMUSG00000039234
Gene Name SEC24 homolog D, COPII coat complex component
Synonyms LOC383951, 2310020L09Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 123061104-123159290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123084162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 114 (S114P)
Ref Sequence ENSEMBL: ENSMUSP00000035823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047923]
AlphaFold Q6NXL1
Predicted Effect probably benign
Transcript: ENSMUST00000047923
AA Change: S114P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: S114P

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: 99.3%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,651,051 (GRCm39) Y58N probably damaging Het
Ago4 G A 4: 126,402,151 (GRCm39) P572S probably benign Het
Akr1c19 A G 13: 4,296,838 (GRCm39) I295V probably benign Het
Cadps2 A T 6: 23,323,297 (GRCm39) I1007K probably damaging Het
Cd47 C A 16: 49,715,822 (GRCm39) T196K Het
Cdrt4 T G 11: 62,883,418 (GRCm39) L40R probably damaging Het
Cox16 A T 12: 81,406,109 (GRCm39) C72S probably benign Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Daxx A T 17: 34,132,247 (GRCm39) D497V unknown Het
Ddt A G 10: 75,608,671 (GRCm39) V62A possibly damaging Het
Dhx57 A G 17: 80,549,523 (GRCm39) V1294A probably damaging Het
Dnaaf5 A G 5: 139,163,743 (GRCm39) T667A probably damaging Het
Dnase2a A C 8: 85,635,786 (GRCm39) S90R probably damaging Het
Dytn A G 1: 63,700,302 (GRCm39) V276A Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Enpp6 A T 8: 47,483,600 (GRCm39) R131W probably damaging Het
Epm2a C T 10: 11,324,432 (GRCm39) H174Y possibly damaging Het
Fcho1 A G 8: 72,169,913 (GRCm39) L70P probably damaging Het
Fhip1b G T 7: 105,034,155 (GRCm39) T492K probably benign Het
Fstl4 G T 11: 53,077,166 (GRCm39) C641F probably damaging Het
Ganab C T 19: 8,886,894 (GRCm39) H327Y probably damaging Het
Gkn1 A G 6: 87,323,322 (GRCm39) Y164H probably benign Het
Gm57858 A G 3: 36,074,195 (GRCm39) V318A possibly damaging Het
Hpf1 A G 8: 61,348,618 (GRCm39) D111G probably damaging Het
Hs3st2 C T 7: 120,992,289 (GRCm39) R113W probably damaging Het
Ighm A T 12: 113,384,794 (GRCm39) L353Q Het
Krbox5 A G 13: 67,981,953 (GRCm39) E55G probably damaging Het
Ksr1 T C 11: 78,909,159 (GRCm39) D782G unknown Het
Lpin2 A G 17: 71,539,087 (GRCm39) K392E unknown Het
Lrrc4 A G 6: 28,830,650 (GRCm39) S322P probably benign Het
Man2a1 T C 17: 64,966,001 (GRCm39) V313A possibly damaging Het
Mctp1 A G 13: 76,727,904 (GRCm39) S9G probably benign Het
Morn5 A T 2: 35,969,525 (GRCm39) probably null Het
Mroh2b C T 15: 4,960,823 (GRCm39) A795V probably damaging Het
Ncf4 G T 15: 78,146,499 (GRCm39) A310S probably benign Het
Nedd4 T C 9: 72,577,381 (GRCm39) Y69H probably benign Het
Nras T C 3: 102,967,673 (GRCm39) F90L possibly damaging Het
Nrxn3 T C 12: 89,221,678 (GRCm39) F113L probably benign Het
Ntsr1 C T 2: 180,180,540 (GRCm39) T282I probably benign Het
Or1e1d-ps1 G T 11: 73,819,617 (GRCm39) C189F probably benign Het
Osbpl3 T A 6: 50,321,857 (GRCm39) K310* probably null Het
Pcca T C 14: 122,854,290 (GRCm39) V194A probably damaging Het
Plekha5 A G 6: 140,525,192 (GRCm39) Y900C probably damaging Het
Prss22 T C 17: 24,212,837 (GRCm39) D300G probably benign Het
Rad17 A T 13: 100,764,119 (GRCm39) Y451N probably damaging Het
Rnf181 G T 6: 72,337,570 (GRCm39) T97K probably damaging Het
Siae C A 9: 37,557,743 (GRCm39) Q517K probably benign Het
Smurf2 A T 11: 106,715,548 (GRCm39) V653D probably damaging Het
Sqor C A 2: 122,649,520 (GRCm39) T359K possibly damaging Het
Taf6 A T 5: 138,176,970 (GRCm39) *637R probably null Het
Tas2r109 A C 6: 132,957,270 (GRCm39) M220R probably damaging Het
Tlr2 T A 3: 83,748,445 (GRCm39) probably null Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem8b T G 4: 43,685,766 (GRCm39) L179R probably damaging Het
Tnfrsf10b T A 14: 70,013,608 (GRCm39) H179Q probably damaging Het
Trip11 T A 12: 101,850,148 (GRCm39) K1305N probably damaging Het
Ttn C A 2: 76,582,862 (GRCm39) W22677L probably damaging Het
Ube2r2 T C 4: 41,190,655 (GRCm39) V183A probably damaging Het
Ubqln4 T A 3: 88,464,124 (GRCm39) D208E probably benign Het
Ugt2a3 T A 5: 87,473,330 (GRCm39) N529I probably benign Het
Vmn1r125 A G 7: 21,006,627 (GRCm39) N175S probably benign Het
Xirp2 T A 2: 67,338,950 (GRCm39) I397K probably damaging Het
Zfp821 G A 8: 110,450,816 (GRCm39) V270I probably damaging Het
Zfp935 A G 13: 62,602,842 (GRCm39) V99A possibly 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
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
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'- ACCACACAGAGGACTTGTTTTAGG -3'
(R):5'- CATGCCCGAGTTATGTCTGC -3'

Sequencing Primer
(F):5'- AGGACTTGTTTTAGGACATATTCGC -3'
(R):5'- CAATGATGAGGTGGGAGTGTAGCTC -3'
Posted On 2022-06-15