Incidental Mutation 'R7554:Sec24d'
ID 584601
Institutional Source Beutler Lab
Gene Symbol Sec24d
Ensembl Gene ENSMUSG00000039234
Gene Name SEC24 homolog D, COPII coat complex component
Synonyms LOC383951, 2310020L09Rik
MMRRC Submission 045651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7554 (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 A at 123149423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 810 (V810D)
Ref Sequence ENSEMBL: ENSMUSP00000035823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047923]
AlphaFold Q6NXL1
Predicted Effect probably damaging
Transcript: ENSMUST00000047923
AA Change: V810D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: V810D

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
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,686 (GRCm39) F185I probably damaging Het
Abi3bp T A 16: 56,438,575 (GRCm39) probably null Het
Acot5 T A 12: 84,120,254 (GRCm39) L203H probably damaging Het
Alad C T 4: 62,430,023 (GRCm39) probably null Het
Alkbh5 C T 11: 60,429,415 (GRCm39) T56I probably benign Het
Apbb1ip G A 2: 22,713,558 (GRCm39) D138N unknown Het
BC049715 T G 6: 136,817,295 (GRCm39) S178R probably damaging Het
C1rb C A 6: 124,557,365 (GRCm39) H501N probably damaging Het
Celsr3 A T 9: 108,718,408 (GRCm39) M2327L probably benign Het
Cers4 G A 8: 4,565,718 (GRCm39) V55I probably benign Het
Cngb3 A T 4: 19,461,753 (GRCm39) K545* probably null Het
Crb1 C T 1: 139,265,019 (GRCm39) C133Y probably damaging Het
Cryba4 C T 5: 112,398,969 (GRCm39) R25Q probably damaging Het
Cyp7b1 C T 3: 18,151,610 (GRCm39) G201D probably benign Het
Dcun1d2 A T 8: 13,331,077 (GRCm39) C18S probably benign Het
Ddx39b A T 17: 35,466,006 (GRCm39) I176F probably benign Het
Dnah7a A G 1: 53,567,857 (GRCm39) I1913T possibly damaging Het
Eif2ak1 T C 5: 143,816,296 (GRCm39) I198T probably damaging Het
Esp34 G A 17: 38,866,782 (GRCm39) M75I probably benign Het
Fam98a G T 17: 75,854,670 (GRCm39) C46* probably null Het
Fanci A T 7: 79,062,500 (GRCm39) N342I probably damaging Het
Fat1 A T 8: 45,490,202 (GRCm39) I3705F possibly damaging Het
Fbxw7 T A 3: 84,883,620 (GRCm39) V598D Het
Gas2l2 G A 11: 83,315,236 (GRCm39) Q306* probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gigyf2 T A 1: 87,335,292 (GRCm39) S378T unknown Het
Hao1 C T 2: 134,372,538 (GRCm39) V157M possibly damaging Het
Hdlbp C T 1: 93,365,031 (GRCm39) V79M probably damaging Het
Htt G A 5: 35,022,084 (GRCm39) R1676H probably damaging Het
Ift56 T A 6: 38,362,435 (GRCm39) L70Q probably null Het
Klhl11 A G 11: 100,354,774 (GRCm39) V349A probably benign Het
Lama2 T C 10: 27,031,492 (GRCm39) E1522G probably damaging Het
Map3k4 T A 17: 12,451,300 (GRCm39) K1531M probably damaging Het
Map3k4 T A 17: 12,451,301 (GRCm39) K1531* probably null Het
Mapk15 A G 15: 75,867,745 (GRCm39) Y120C possibly damaging Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mgat4d A C 8: 84,082,402 (GRCm39) K117N probably benign Het
Mid1 G T X: 168,769,010 (GRCm39) S468I possibly damaging Het
Mmp8 T C 9: 7,563,112 (GRCm39) L225P probably damaging Het
Mrps31 A G 8: 22,911,445 (GRCm39) K229R possibly damaging Het
Muc5b A T 7: 141,412,513 (GRCm39) T1820S unknown Het
Myof T C 19: 37,942,958 (GRCm39) T707A probably benign Het
Nckap5l A T 15: 99,327,261 (GRCm39) S143T probably benign Het
Notch3 A G 17: 32,341,345 (GRCm39) S2136P probably benign Het
Nphp3 A T 9: 103,919,270 (GRCm39) D1306V probably damaging Het
Or10ag56 T A 2: 87,139,349 (GRCm39) M92K probably damaging Het
Or1e1b-ps1 C T 11: 73,845,630 (GRCm39) T38I probably damaging Het
Or2at1 T A 7: 99,417,210 (GRCm39) N280K possibly damaging Het
Or52n1 T C 7: 104,383,074 (GRCm39) I166V probably benign Het
Or56b1 T C 7: 104,285,733 (GRCm39) M284T probably benign Het
Or5k15 T C 16: 58,709,769 (GRCm39) I271M probably benign Het
Pabpc4l T A 3: 46,401,549 (GRCm39) T32S probably benign Het
Pcdhb10 A C 18: 37,544,935 (GRCm39) T4P probably benign Het
Pkhd1l1 A G 15: 44,358,866 (GRCm39) I358M probably damaging Het
Plekhg1 A G 10: 3,913,647 (GRCm39) E1178G Het
Prkcd A T 14: 30,331,220 (GRCm39) Y52N probably damaging Het
Rasa3 G A 8: 13,645,390 (GRCm39) T183M probably damaging Het
Rbm26 G T 14: 105,398,029 (GRCm39) A31D unknown Het
Scara3 T C 14: 66,158,299 (GRCm39) T570A possibly damaging Het
Sgcz A T 8: 38,030,426 (GRCm39) probably null Het
Stt3b A G 9: 115,109,477 (GRCm39) probably null Het
Synpo G T 18: 60,736,405 (GRCm39) Q514K probably benign Het
Tagln2 G T 1: 172,333,411 (GRCm39) K88N probably damaging Het
Tcaf1 T A 6: 42,654,388 (GRCm39) K601N probably benign Het
Tent4a G T 13: 69,648,191 (GRCm39) H734Q probably damaging Het
Tprn T C 2: 25,153,811 (GRCm39) F371S probably damaging Het
Ttn A T 2: 76,671,652 (GRCm39) V11304E unknown Het
Ttn C T 2: 76,706,207 (GRCm39) W9171* probably null Het
Vmn2r50 A T 7: 9,784,066 (GRCm39) M136K probably null Het
Zfp518b G A 5: 38,830,415 (GRCm39) P530L probably damaging Het
Zfp941 C A 7: 140,391,970 (GRCm39) S463I 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
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
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'- TGCCATAATTAGACCAGTGTCCC -3'
(R):5'- CCGAGCATATTGTGACATTTCTCTG -3'

Sequencing Primer
(F):5'- ATAATTAGACCAGTGTCCCTCTTTG -3'
(R):5'- GTTTATAAACAGTGTATTTGTGGCTG -3'
Posted On 2019-10-17