Incidental Mutation 'IGL02173:Sec24d'
ID 282980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec24d
Ensembl Gene ENSMUSG00000039234
Gene Name SEC24 homolog D, COPII coat complex component
Synonyms LOC383951, 2310020L09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02173
Quality Score
Status
Chromosome 3
Chromosomal Location 123061104-123159290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123147330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 733 (H733L)
Ref Sequence ENSEMBL: ENSMUSP00000035823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047923]
AlphaFold Q6NXL1
Predicted Effect probably damaging
Transcript: ENSMUST00000047923
AA Change: H733L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: H733L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200309
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,061,754 (GRCm39) H68L possibly damaging Het
4930533K18Rik A G 10: 70,708,060 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,443,401 (GRCm39) T182A unknown Het
Abca2 T A 2: 25,331,909 (GRCm39) D1340E probably benign Het
Abcc12 G A 8: 87,293,071 (GRCm39) A39V probably damaging Het
Acap2 T C 16: 30,926,965 (GRCm39) R510G possibly damaging Het
Ace G T 11: 105,879,817 (GRCm39) R719L probably benign Het
Adarb1 A C 10: 77,157,659 (GRCm39) F263V probably damaging Het
Ahcyl T C 16: 45,974,441 (GRCm39) N312S probably benign Het
Ambra1 T C 2: 91,748,013 (GRCm39) S1130P probably benign Het
Aqp7 A T 4: 41,034,379 (GRCm39) L260* probably null Het
Cntn5 G T 9: 9,748,401 (GRCm39) S493R probably damaging Het
Crhr2 A G 6: 55,080,165 (GRCm39) F138S probably damaging Het
D2hgdh T A 1: 93,757,611 (GRCm39) D175E probably benign Het
Dtx4 G T 19: 12,450,621 (GRCm39) Y530* probably null Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Etv6 A G 6: 134,225,690 (GRCm39) D218G possibly damaging Het
Exoc5 A G 14: 49,272,258 (GRCm39) probably benign Het
Fyb1 C T 15: 6,610,176 (GRCm39) P250S probably benign Het
Gaa A G 11: 119,165,739 (GRCm39) Y84C probably damaging Het
Galns A T 8: 123,325,365 (GRCm39) S262R probably damaging Het
Gfus A G 15: 75,798,034 (GRCm39) S233P probably damaging Het
Kctd16 T C 18: 40,663,906 (GRCm39) I345T probably benign Het
Lats2 A G 14: 57,934,717 (GRCm39) V671A probably damaging Het
Maml3 C A 3: 51,598,208 (GRCm39) L179F probably damaging Het
Myo1f T C 17: 33,826,318 (GRCm39) L1089P probably damaging Het
Nadsyn1 A T 7: 143,357,743 (GRCm39) probably benign Het
Or1e34 A G 11: 73,778,949 (GRCm39) M83T possibly damaging Het
Or51k1 G A 7: 103,661,037 (GRCm39) P291S probably damaging Het
Or7d9 T C 9: 20,197,691 (GRCm39) V240A probably benign Het
Or9i1 A G 19: 13,839,378 (GRCm39) T74A probably benign Het
Otog T C 7: 45,926,165 (GRCm39) probably benign Het
Pcbd1 A G 10: 60,927,983 (GRCm39) probably benign Het
Pced1a A G 2: 130,264,248 (GRCm39) V164A possibly damaging Het
Pgd A G 4: 149,241,210 (GRCm39) I233T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc1a2 T A 2: 102,574,206 (GRCm39) N205K probably benign Het
Sstr2 G T 11: 113,515,842 (GRCm39) V254L probably damaging Het
Tm9sf2 G T 14: 122,380,835 (GRCm39) V308F probably benign Het
Tor3a T C 1: 156,501,776 (GRCm39) K34E probably benign Het
Ubr4 T A 4: 139,164,381 (GRCm39) probably null Het
Vmn1r56 A G 7: 5,199,117 (GRCm39) S167P probably damaging Het
Zswim3 T A 2: 164,662,759 (GRCm39) I413N 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
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
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
Posted On 2015-04-16