Incidental Mutation 'IGL01084:Sec23b'
ID 50447
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 # IGL01084
Quality Score
Status
Chromosome 2
Chromosomal Location 144398165-144432673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144406509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 101 (I101M)
Ref Sequence ENSEMBL: ENSMUSP00000122819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028916] [ENSMUST00000143573] [ENSMUST00000149697] [ENSMUST00000155876]
AlphaFold Q9D662
Predicted Effect possibly damaging
Transcript: ENSMUST00000028916
AA Change: I101M

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429
AA Change: I101M

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 possibly damaging
Transcript: ENSMUST00000143573
AA Change: I101M

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120972
Gene: ENSMUSG00000027429
AA Change: I101M

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 3.7e-18 PFAM
Pfam:Sec23_trunk 126 278 1.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000149697
AA Change: I101M

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122819
Gene: ENSMUSG00000027429
AA Change: I101M

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 8.7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155876
AA Change: I101M

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122884
Gene: ENSMUSG00000027429
AA Change: I101M

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 1.1e-18 PFAM
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,546,901 (GRCm39) Q284K probably damaging Het
Adgrd1 A T 5: 129,216,656 (GRCm39) N341I probably benign Het
Arhgap40 T C 2: 158,385,138 (GRCm39) F457S probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Catsper1 G A 19: 5,387,800 (GRCm39) V360M probably damaging Het
Cdc42bpa T A 1: 179,969,839 (GRCm39) probably benign Het
Cep250 C T 2: 155,840,313 (GRCm39) H2424Y probably benign Het
Cln3 T C 7: 126,174,426 (GRCm39) E304G probably damaging Het
Eml2 T A 7: 18,924,663 (GRCm39) C177* probably null Het
Epha5 G A 5: 84,218,946 (GRCm39) R917* probably null Het
Gabra2 A G 5: 71,163,576 (GRCm39) F244L probably damaging Het
Gars1 C A 6: 55,032,812 (GRCm39) D261E probably benign Het
Gata3os A G 2: 9,887,884 (GRCm39) probably benign Het
Keg1 A G 19: 12,691,976 (GRCm39) K98E probably damaging Het
Kif13a A G 13: 46,904,110 (GRCm39) probably benign Het
Matn1 A G 4: 130,679,245 (GRCm39) K300E probably benign Het
Mesp1 A G 7: 79,442,831 (GRCm39) S149P probably benign Het
Mmp10 T C 9: 7,505,651 (GRCm39) V305A possibly damaging Het
Muc5b T C 7: 141,397,186 (GRCm39) probably benign Het
Myof T C 19: 37,924,884 (GRCm39) T1181A probably damaging Het
Or1r1 A T 11: 73,875,353 (GRCm39) L27Q probably damaging Het
Or5d35 T C 2: 87,855,347 (GRCm39) S94P probably benign Het
Or9i16 G T 19: 13,864,866 (GRCm39) T236N probably damaging Het
Osbpl11 T C 16: 33,047,221 (GRCm39) probably benign Het
Prune2 T C 19: 17,095,573 (GRCm39) V359A probably benign Het
Ptch1 T A 13: 63,691,451 (GRCm39) E267D probably damaging Het
Rbl2 A G 8: 91,848,941 (GRCm39) E1049G probably damaging Het
Ruvbl2 A T 7: 45,071,947 (GRCm39) probably null Het
Srms A C 2: 180,848,177 (GRCm39) probably null Het
Svep1 T A 4: 58,111,419 (GRCm39) T1067S possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem127 T C 2: 127,099,006 (GRCm39) V180A probably damaging Het
Trpm7 A G 2: 126,687,992 (GRCm39) probably null Het
Trpv3 G A 11: 73,184,826 (GRCm39) probably null Het
Tti1 C T 2: 157,824,379 (GRCm39) V1025I probably damaging Het
Vmn2r80 A G 10: 79,030,433 (GRCm39) Y753C probably damaging Het
Vps13d A G 4: 144,881,525 (GRCm39) L1350S probably benign Het
Zfp287 G T 11: 62,604,716 (GRCm39) Y730* probably null Het
Zfp583 A G 7: 6,320,184 (GRCm39) F276S probably damaging Het
Zfp638 T C 6: 83,921,780 (GRCm39) Y636H probably benign 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
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
IGL03105:Sec23b APN 2 144,423,940 (GRCm39) missense probably damaging 1.00
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 2013-06-21