Incidental Mutation 'R4519:Sec23b'
ID 334106
Institutional Source Beutler Lab
Gene Symbol Sec23b
Ensembl Gene ENSMUSG00000027429
Gene Name SEC23 homolog B, COPII coat complex component
Synonyms
MMRRC Submission 041590-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4519 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 144398165-144432673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144423935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 528 (M528K)
Ref Sequence ENSEMBL: ENSMUSP00000028916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028916]
AlphaFold Q9D662
Predicted Effect possibly damaging
Transcript: ENSMUST00000028916
AA Change: M528K

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429
AA Change: M528K

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik A G 9: 114,129,092 (GRCm39) noncoding transcript Het
Acadsb A T 7: 131,031,733 (GRCm39) T190S probably damaging Het
Adamts17 G T 7: 66,490,314 (GRCm39) G132V probably damaging Het
Atosa A G 9: 74,930,929 (GRCm39) I957M probably damaging Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Atp8b4 A T 2: 126,256,379 (GRCm39) probably null Het
Btbd18 T C 2: 84,497,924 (GRCm39) Y521H probably damaging Het
Casd1 A G 6: 4,621,102 (GRCm39) N220S probably benign Het
Ccdc112 T G 18: 46,420,613 (GRCm39) E379A possibly damaging Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cntrl A T 2: 35,063,123 (GRCm39) K1573M probably damaging Het
Col14a1 A T 15: 55,251,975 (GRCm39) I544F unknown Het
Cyp20a1 A T 1: 60,426,306 (GRCm39) Y416F probably damaging Het
Dagla T C 19: 10,247,096 (GRCm39) K132E probably damaging Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Ddx41 A T 13: 55,680,957 (GRCm39) V329E probably damaging Het
Dhx32 A T 7: 133,335,838 (GRCm39) Y272N probably damaging Het
Fam114a1 C A 5: 65,163,225 (GRCm39) P174Q probably benign Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Ghr T A 15: 3,362,970 (GRCm39) L167F probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Gm9767 T C 10: 25,954,756 (GRCm39) probably benign Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
Gsdme A T 6: 50,206,333 (GRCm39) I170N probably damaging Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Kmt2c T A 5: 25,568,475 (GRCm39) K867M probably damaging Het
Krt35 A G 11: 99,985,453 (GRCm39) V196A possibly damaging Het
Ltbp1 A T 17: 75,671,492 (GRCm39) M1558L probably benign Het
Mcam T G 9: 44,052,640 (GRCm39) M623R possibly damaging Het
Mrps26 A T 2: 130,406,269 (GRCm39) Q134L probably benign Het
Mxra8 T C 4: 155,927,440 (GRCm39) probably null Het
Or13a21 A G 7: 139,999,123 (GRCm39) S188P probably damaging Het
Or52n20 G A 7: 104,320,046 (GRCm39) G46R probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Parg C A 14: 31,931,592 (GRCm39) T404K probably damaging Het
Parp8 C A 13: 117,032,209 (GRCm39) L321F possibly damaging Het
Piezo2 T C 18: 63,205,951 (GRCm39) E1486G probably damaging Het
Pign A T 1: 105,525,391 (GRCm39) probably null Het
Pik3r4 A G 9: 105,549,924 (GRCm39) H1005R probably damaging Het
Ppp6r1 A C 7: 4,644,045 (GRCm39) probably null Het
Ptdss2 A G 7: 140,734,491 (GRCm39) T309A probably benign Het
Ptprt T C 2: 161,406,609 (GRCm39) M987V probably damaging Het
Rgs17 C A 10: 5,868,192 (GRCm39) L9F probably benign Het
Rock2 A G 12: 17,027,738 (GRCm39) R168G probably damaging Het
Rsph4a T A 10: 33,787,623 (GRCm39) L593* probably null Het
Scaf11 C A 15: 96,322,719 (GRCm39) K108N probably damaging Het
Shank2 G A 7: 143,963,942 (GRCm39) D727N probably damaging Het
Sipa1l2 T C 8: 126,218,965 (GRCm39) D124G probably benign Het
Spatc1 A T 15: 76,176,685 (GRCm39) I479F probably damaging Het
Tmem126b A G 7: 90,118,316 (GRCm39) L188P probably damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Vmn2r62 A G 7: 42,413,957 (GRCm39) F829L 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
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
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'- TTCTTTAGCCGTCAGCCAGC -3'
(R):5'- TGCTGCCTGACTACATAAGTG -3'

Sequencing Primer
(F):5'- CCTGAGAGTGACTGAAATGGTTATC -3'
(R):5'- GCTCTGGCATGTGCACATACAAG -3'
Posted On 2015-08-18