Incidental Mutation 'R9015:Sec24d'
ID 685898
Institutional Source Beutler Lab
Gene Symbol Sec24d
Ensembl Gene ENSMUSG00000039234
Gene Name SEC24 homolog D, COPII coat complex component
Synonyms LOC383951, 2310020L09Rik
MMRRC Submission 068845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9015 (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 C at 123121287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 391 (V391A)
Ref Sequence ENSEMBL: ENSMUSP00000035823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047923]
AlphaFold Q6NXL1
Predicted Effect probably benign
Transcript: ENSMUST00000047923
AA Change: V391A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: V391A

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: 98.9%
Validation Efficiency 100% (93/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,688 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,150,847 (GRCm39) D335G probably damaging Het
Adcy8 T C 15: 64,597,206 (GRCm39) probably benign Het
Alas1 A T 9: 106,113,670 (GRCm39) I525N probably benign Het
Aoah A T 13: 21,184,197 (GRCm39) silent Het
Aox1 G A 1: 58,382,851 (GRCm39) V1044M probably damaging Het
Apcdd1 A T 18: 63,083,157 (GRCm39) Y329F possibly damaging Het
Arhgap10 A C 8: 77,985,687 (GRCm39) C727G probably benign Het
Arid4a G A 12: 71,122,168 (GRCm39) D528N possibly damaging Het
Atp8a1 A G 5: 67,887,250 (GRCm39) V611A Het
BC004004 T C 17: 29,517,637 (GRCm39) F284L probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cep295 T C 9: 15,244,264 (GRCm39) I1397M probably benign Het
Cep63 A G 9: 102,496,111 (GRCm39) S99P probably damaging Het
Coq3 T A 4: 21,899,107 (GRCm39) S147T probably benign Het
Crym A T 7: 119,801,090 (GRCm39) S20T probably benign Het
Ctr9 T A 7: 110,643,108 (GRCm39) N493K probably benign Het
Dchs2 A G 3: 83,188,751 (GRCm39) I1372V possibly damaging Het
Ddi2 G A 4: 141,412,747 (GRCm39) T55M probably benign Het
Dnah1 T C 14: 30,986,316 (GRCm39) M3724V probably damaging Het
Dst A G 1: 34,326,337 (GRCm39) I4690V probably benign Het
Ect2l T C 10: 18,039,148 (GRCm39) T429A probably benign Het
Eif3c G T 7: 126,155,538 (GRCm39) H577N probably damaging Het
Erg A G 16: 95,162,126 (GRCm39) S334P possibly damaging Het
Faf2 A G 13: 54,796,139 (GRCm39) S127G probably benign Het
Fbxl3 T A 14: 103,329,790 (GRCm39) T141S possibly damaging Het
Fbxw4 T A 19: 45,624,874 (GRCm39) M122L probably benign Het
Fgd4 T C 16: 16,271,941 (GRCm39) M476V probably damaging Het
Flvcr2 A T 12: 85,829,779 (GRCm39) I263F probably benign Het
Gadl1 A T 9: 115,794,705 (GRCm39) R293S probably benign Het
Gm11983 G T 11: 6,787,033 (GRCm39) F31L unknown Het
Gmnn A T 13: 24,940,638 (GRCm39) N70K probably benign Het
Gpr3 A G 4: 132,938,390 (GRCm39) V94A possibly damaging Het
Greb1l A G 18: 10,541,675 (GRCm39) S1141G probably benign Het
Helz2 A T 2: 180,870,792 (GRCm39) V2892E probably damaging Het
Hivep1 T A 13: 42,311,849 (GRCm39) M1363K probably benign Het
Hk1 T A 10: 62,128,118 (GRCm39) T336S possibly damaging Het
Hpgds A T 6: 65,115,229 (GRCm39) I18N possibly damaging Het
Insrr T A 3: 87,720,910 (GRCm39) L1056Q probably damaging Het
Ints10 A G 8: 69,260,139 (GRCm39) M288V probably benign Het
Itgb6 T C 2: 60,485,032 (GRCm39) D237G probably damaging Het
Kcnf1 A G 12: 17,225,303 (GRCm39) I306T probably damaging Het
Kdm3b G A 18: 34,963,212 (GRCm39) G1556D probably damaging Het
Kif5b A G 18: 6,216,892 (GRCm39) L477P probably damaging Het
Klf5 T G 14: 99,540,919 (GRCm39) *310G probably null Het
Lnx1 A G 5: 74,780,783 (GRCm39) V246A probably benign Het
Ly75 C T 2: 60,146,442 (GRCm39) E1279K probably benign Het
Lztr1 T A 16: 17,337,305 (GRCm39) C233S probably benign Het
Mfsd6l T G 11: 68,447,536 (GRCm39) I129S probably benign Het
Mrgprx2 T A 7: 48,148,938 (GRCm39) probably benign Het
Ncapd2 A T 6: 125,145,285 (GRCm39) probably benign Het
Or10ag53 T A 2: 87,082,546 (GRCm39) Y88* probably null Het
Or12e9 T A 2: 87,202,485 (GRCm39) M203K possibly damaging Het
Or2a25 G T 6: 42,888,825 (GRCm39) V123L possibly damaging Het
Or8g30 A C 9: 39,230,019 (GRCm39) V297G probably damaging Het
Pde6a A G 18: 61,397,047 (GRCm39) H631R probably damaging Het
Pfkl C T 10: 77,824,794 (GRCm39) G665D probably damaging Het
Pik3ap1 T A 19: 41,270,430 (GRCm39) E753V probably damaging Het
Pik3cd G T 4: 149,740,055 (GRCm39) R502S probably benign Het
Piwil2 T A 14: 70,627,984 (GRCm39) I762L probably benign Het
Pkd1 T A 17: 24,784,636 (GRCm39) L394* probably null Het
Plekhb2 A G 1: 34,916,046 (GRCm39) D195G probably benign Het
Plppr5 T C 3: 117,456,103 (GRCm39) M208T probably damaging Het
Polr2i G A 7: 29,932,513 (GRCm39) V115I unknown Het
Prkacb T C 3: 146,456,239 (GRCm39) S187G probably null Het
Prkag3 G T 1: 74,780,353 (GRCm39) H437Q probably benign Het
Prlr T A 15: 10,319,352 (GRCm39) Y94N probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psd4 A G 2: 24,287,492 (GRCm39) R475G Het
Rad51b G A 12: 79,347,417 (GRCm39) C27Y probably damaging Het
Scfd2 A G 5: 74,691,625 (GRCm39) L219P probably damaging Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Selenbp2 T A 3: 94,607,332 (GRCm39) L251Q probably damaging Het
Sh3rf1 T C 8: 61,827,202 (GRCm39) V652A probably benign Het
Slc11a2 A G 15: 100,301,186 (GRCm39) V289A probably benign Het
Smim29 T C 17: 27,783,223 (GRCm39) D48G probably benign Het
Sox8 T A 17: 25,789,135 (GRCm39) Y121F probably damaging Het
Taar7a A T 10: 23,868,733 (GRCm39) I216N probably damaging Het
Tanc1 T A 2: 59,622,224 (GRCm39) S448T probably benign Het
Tas2r119 G A 15: 32,178,226 (GRCm39) G264D probably damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Trim17 A G 11: 58,856,057 (GRCm39) E38G probably damaging Het
Trub2 A T 2: 29,668,276 (GRCm39) probably benign Het
Ttn T A 2: 76,571,964 (GRCm39) M26310L probably damaging Het
Unc13c T G 9: 73,453,322 (GRCm39) I1823L probably benign Het
Vav2 C A 2: 27,160,151 (GRCm39) E728* probably null Het
Virma A G 4: 11,540,494 (GRCm39) D1465G probably benign Het
Vmn2r72 T G 7: 85,398,388 (GRCm39) M531L probably benign Het
Vwa3b G A 1: 37,203,597 (GRCm39) V59I possibly damaging Het
Xrcc1 G A 7: 24,271,642 (GRCm39) E542K probably benign Het
Zdhhc6 T G 19: 55,287,318 (GRCm39) T381P probably benign Het
Zdhhc8 T C 16: 18,041,141 (GRCm39) S740G probably damaging Het
Zfp106 T C 2: 120,364,019 (GRCm39) K819R 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
R8974:Sec24d UTSW 3 123,099,498 (GRCm39) missense probably damaging 1.00
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'- ATCAATCAGTCCCACTGGAGGATG -3'
(R):5'- AGAGCAACCCAGGACTCATG -3'

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