Incidental Mutation 'R1034:Sec23b'
ID 95374
Institutional Source Beutler Lab
Gene Symbol Sec23b
Ensembl Gene ENSMUSG00000027429
Gene Name SEC23 homolog B, COPII coat complex component
Synonyms
MMRRC Submission 039133-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1034 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 144398165-144432673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144432258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 756 (D756G)
Ref Sequence ENSEMBL: ENSMUSP00000028916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028916] [ENSMUST00000136628]
AlphaFold Q9D662
Predicted Effect possibly damaging
Transcript: ENSMUST00000028916
AA Change: D756G

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429
AA Change: D756G

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 probably benign
Transcript: ENSMUST00000136628
SMART Domains Protein: ENSMUSP00000132193
Gene: ENSMUSG00000074754

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Meta Mutation Damage Score 0.2408 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.3%
  • 10x: 92.9%
  • 20x: 82.2%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abca14 T C 7: 119,815,370 (GRCm39) F206S probably damaging Het
Arid2 T C 15: 96,267,386 (GRCm39) V622A probably benign Het
Asic1 T A 15: 99,595,939 (GRCm39) L437Q probably damaging Het
Atp1b1 C T 1: 164,281,057 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,234 (GRCm39) Y151C probably damaging Het
Cbx4 A G 11: 118,972,533 (GRCm39) S281P probably damaging Het
Dnah5 G A 15: 28,302,617 (GRCm39) V1625I probably damaging Het
Eftud2 A C 11: 102,740,010 (GRCm39) D461E probably benign Het
Epgn A G 5: 91,180,080 (GRCm39) Y74C probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgf14 C T 14: 124,369,946 (GRCm39) V113I probably damaging Het
Ggcx G A 6: 72,391,814 (GRCm39) R68H probably damaging Het
Gm1110 A G 9: 26,832,646 (GRCm39) S16P probably damaging Het
Gm6729 T C 10: 86,375,890 (GRCm39) noncoding transcript Het
Gpr108 A G 17: 57,542,995 (GRCm39) F522S probably damaging Het
Gpr156 T C 16: 37,825,088 (GRCm39) V435A probably benign Het
Khdrbs2 T C 1: 32,506,872 (GRCm39) L172P probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Ltn1 A T 16: 87,194,025 (GRCm39) probably null Het
Nbeal1 T A 1: 60,329,165 (GRCm39) Y2194* probably null Het
Or6c8 T A 10: 128,915,830 (GRCm39) M1L probably benign Het
Or7d11 A T 9: 19,966,661 (GRCm39) S33T probably benign Het
Rab6b T C 9: 103,044,323 (GRCm39) S172P probably benign Het
Ror1 T A 4: 100,190,817 (GRCm39) L58* probably null Het
Slc24a2 T A 4: 86,950,512 (GRCm39) K428N probably damaging Het
Spen C A 4: 141,203,063 (GRCm39) V1855L probably benign Het
Srgap1 G A 10: 121,621,350 (GRCm39) P1071S possibly damaging Het
Tns1 A G 1: 73,981,128 (GRCm39) C1079R probably damaging Het
Traf3ip1 G T 1: 91,446,041 (GRCm39) probably null Het
Trmt2a T C 16: 18,067,573 (GRCm39) F82S probably damaging Het
Xrn1 A G 9: 95,921,790 (GRCm39) D1401G probably damaging Het
Zfp352 T A 4: 90,112,393 (GRCm39) S178T possibly damaging Het
Zfp758 G T 17: 22,594,740 (GRCm39) E409* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGCAGGTCTCAGGAAAGGCTTA -3'
(R):5'- CCAATGCCGTCCTCACACAGATTTA -3'

Sequencing Primer
(F):5'- TCTCAGGAAAGGCTTAGAGGAAAAC -3'
(R):5'- CCTGAAGACGTATTATAGCCTGAAG -3'
Posted On 2014-01-05