Incidental Mutation 'IGL03105:Sec23b'
ID 418938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec23b
Ensembl Gene ENSMUSG00000027429
Gene Name SEC23 homolog B, COPII coat complex component
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03105
Quality Score
Status
Chromosome 2
Chromosomal Location 144398165-144432673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144423940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 530 (R530W)
Ref Sequence ENSEMBL: ENSMUSP00000028916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028916]
AlphaFold Q9D662
Predicted Effect probably damaging
Transcript: ENSMUST00000028916
AA Change: R530W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429
AA Change: R530W

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 58 98 4.3e-17 PFAM
Pfam:Sec23_trunk 126 392 2.3e-82 PFAM
Pfam:Sec23_BS 403 506 7.2e-33 PFAM
Pfam:Sec23_helical 522 620 1.1e-28 PFAM
Pfam:Gelsolin 631 720 1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146487
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 SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Sec23b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Sec23b APN 2 144,425,690 (GRCm39) critical splice donor site probably null
IGL00668:Sec23b APN 2 144,401,138 (GRCm39) utr 5 prime probably benign
IGL00714:Sec23b APN 2 144,401,145 (GRCm39) missense probably benign 0.33
IGL00914:Sec23b APN 2 144,408,784 (GRCm39) missense probably damaging 1.00
IGL01084:Sec23b APN 2 144,406,509 (GRCm39) missense possibly damaging 0.81
IGL01341:Sec23b APN 2 144,427,653 (GRCm39) missense probably benign 0.00
IGL01377:Sec23b APN 2 144,401,157 (GRCm39) missense probably damaging 0.97
IGL01634:Sec23b APN 2 144,401,150 (GRCm39) missense probably damaging 0.96
IGL02321:Sec23b APN 2 144,421,325 (GRCm39) critical splice donor site probably null
IGL03027:Sec23b APN 2 144,429,465 (GRCm39) missense possibly damaging 0.55
IGL03064:Sec23b APN 2 144,423,952 (GRCm39) missense probably benign 0.00
IGL03240:Sec23b APN 2 144,408,679 (GRCm39) splice site probably benign
R0004:Sec23b UTSW 2 144,406,482 (GRCm39) splice site probably benign
R0092:Sec23b UTSW 2 144,408,830 (GRCm39) missense probably benign 0.21
R0409:Sec23b UTSW 2 144,409,832 (GRCm39) missense probably benign 0.22
R0426:Sec23b UTSW 2 144,410,532 (GRCm39) unclassified probably benign
R0441:Sec23b UTSW 2 144,423,917 (GRCm39) missense probably damaging 1.00
R1034:Sec23b UTSW 2 144,432,258 (GRCm39) missense possibly damaging 0.87
R1624:Sec23b UTSW 2 144,409,049 (GRCm39) missense probably benign
R2020:Sec23b UTSW 2 144,408,864 (GRCm39) missense possibly damaging 0.49
R2392:Sec23b UTSW 2 144,427,507 (GRCm39) splice site probably null
R3946:Sec23b UTSW 2 144,423,893 (GRCm39) missense probably benign
R4407:Sec23b UTSW 2 144,416,638 (GRCm39) missense possibly damaging 0.53
R4448:Sec23b UTSW 2 144,401,171 (GRCm39) missense probably benign 0.43
R4519:Sec23b UTSW 2 144,423,935 (GRCm39) missense possibly damaging 0.86
R4522:Sec23b UTSW 2 144,420,286 (GRCm39) missense possibly damaging 0.80
R4654:Sec23b UTSW 2 144,414,494 (GRCm39) missense probably benign 0.33
R4849:Sec23b UTSW 2 144,427,519 (GRCm39) missense probably damaging 0.96
R4876:Sec23b UTSW 2 144,428,281 (GRCm39) splice site probably null
R4983:Sec23b UTSW 2 144,423,873 (GRCm39) missense probably benign 0.06
R6169:Sec23b UTSW 2 144,428,894 (GRCm39) missense probably damaging 1.00
R6702:Sec23b UTSW 2 144,401,109 (GRCm39) splice site probably null
R6703:Sec23b UTSW 2 144,401,109 (GRCm39) splice site probably null
R6748:Sec23b UTSW 2 144,408,714 (GRCm39) missense probably damaging 1.00
R7238:Sec23b UTSW 2 144,432,258 (GRCm39) missense possibly damaging 0.87
R7511:Sec23b UTSW 2 144,432,269 (GRCm39) missense probably benign 0.30
R7845:Sec23b UTSW 2 144,401,316 (GRCm39) missense possibly damaging 0.67
R7914:Sec23b UTSW 2 144,406,565 (GRCm39) missense probably benign
R8177:Sec23b UTSW 2 144,427,543 (GRCm39) missense probably benign 0.03
R8183:Sec23b UTSW 2 144,401,189 (GRCm39) missense probably benign 0.08
R8238:Sec23b UTSW 2 144,406,568 (GRCm39) missense probably benign 0.00
R8420:Sec23b UTSW 2 144,401,234 (GRCm39) missense probably benign 0.01
R8488:Sec23b UTSW 2 144,423,983 (GRCm39) missense probably damaging 0.98
R8558:Sec23b UTSW 2 144,428,308 (GRCm39) missense possibly damaging 0.90
R8911:Sec23b UTSW 2 144,401,316 (GRCm39) missense probably benign 0.27
R8939:Sec23b UTSW 2 144,411,137 (GRCm39) critical splice donor site probably null
R9058:Sec23b UTSW 2 144,424,010 (GRCm39) missense probably damaging 1.00
R9172:Sec23b UTSW 2 144,401,179 (GRCm39) missense probably benign
R9334:Sec23b UTSW 2 144,410,550 (GRCm39) missense possibly damaging 0.83
R9401:Sec23b UTSW 2 144,420,286 (GRCm39) missense probably benign 0.10
R9561:Sec23b UTSW 2 144,408,728 (GRCm39) missense possibly damaging 0.84
R9593:Sec23b UTSW 2 144,410,564 (GRCm39) missense probably benign 0.20
R9696:Sec23b UTSW 2 144,428,343 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02