Incidental Mutation 'R6703:Sec23b'
ID 528262
Institutional Source Beutler Lab
Gene Symbol Sec23b
Ensembl Gene ENSMUSG00000027429
Gene Name SEC23 homolog B, COPII coat complex component
Synonyms
MMRRC Submission 044821-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6703 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 144398165-144432673 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 144401109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028916] [ENSMUST00000143573] [ENSMUST00000149697] [ENSMUST00000155258] [ENSMUST00000155876]
AlphaFold Q9D662
Predicted Effect probably null
Transcript: ENSMUST00000028916
SMART Domains Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429

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 probably null
Transcript: ENSMUST00000143573
SMART Domains Protein: ENSMUSP00000120972
Gene: ENSMUSG00000027429

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 3.7e-18 PFAM
Pfam:Sec23_trunk 126 278 1.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143921
Predicted Effect probably null
Transcript: ENSMUST00000149697
SMART Domains Protein: ENSMUSP00000122819
Gene: ENSMUSG00000027429

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 8.7e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000155258
SMART Domains Protein: ENSMUSP00000123690
Gene: ENSMUSG00000027429

DomainStartEndE-ValueType
PDB:2NUT|A 1 59 2e-32 PDB
Predicted Effect probably null
Transcript: ENSMUST00000155876
SMART Domains Protein: ENSMUSP00000122884
Gene: ENSMUSG00000027429

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 1.1e-18 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (73/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T A 10: 21,497,558 (GRCm39) Y66* probably null Het
Akap13 T C 7: 75,252,646 (GRCm39) S259P probably damaging Het
Aoc1 A C 6: 48,882,648 (GRCm39) T197P probably damaging Het
Blnk A T 19: 40,950,950 (GRCm39) probably null Het
Ccser1 A T 6: 61,615,495 (GRCm39) K94* probably null Het
Cfap54 T A 10: 92,704,596 (GRCm39) D2828V unknown Het
Clec4n A G 6: 123,212,553 (GRCm39) Q89R probably null Het
Col6a3 T C 1: 90,707,161 (GRCm39) D1984G unknown Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Csnk2a1 A G 2: 152,100,608 (GRCm39) T93A probably benign Het
Dna2 T A 10: 62,809,073 (GRCm39) I1055N possibly damaging Het
Dnm3 A G 1: 162,146,256 (GRCm39) F296L probably benign Het
Dock7 T C 4: 98,834,909 (GRCm39) E1822G probably damaging Het
Dpyd A T 3: 118,690,849 (GRCm39) probably null Het
Dyrk4 A T 6: 126,867,045 (GRCm39) I329N probably damaging Het
E4f1 C A 17: 24,666,105 (GRCm39) R231L probably damaging Het
Fat1 A G 8: 45,406,083 (GRCm39) T945A probably benign Het
Fkbp7 A T 2: 76,502,106 (GRCm39) M99K probably damaging Het
Flad1 T C 3: 89,315,897 (GRCm39) S222G probably benign Het
H1f7 C A 15: 98,155,153 (GRCm39) probably benign Het
Ighg2b T C 12: 113,268,653 (GRCm39) probably benign Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Itln1 C T 1: 171,358,151 (GRCm39) C199Y probably damaging Het
Kctd3 G A 1: 188,728,726 (GRCm39) R137C probably damaging Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Larp7 C T 3: 127,337,873 (GRCm39) M395I probably damaging Het
Lpcat3 C T 6: 124,640,185 (GRCm39) A5V probably benign Het
Lrrc43 C T 5: 123,637,532 (GRCm39) T233M possibly damaging Het
Map4k1 T G 7: 28,701,821 (GRCm39) S803A possibly damaging Het
Mef2c T A 13: 83,773,525 (GRCm39) C134S possibly damaging Het
Mgst2 T C 3: 51,572,033 (GRCm39) probably null Het
Mug2 T G 6: 122,055,653 (GRCm39) I1112R probably benign Het
Myo15a A G 11: 60,383,818 (GRCm39) I1622V probably benign Het
Ndor1 A G 2: 25,139,902 (GRCm39) F142S possibly damaging Het
Nectin3 A G 16: 46,284,205 (GRCm39) S160P probably damaging Het
Nudt16l2 T C 9: 105,021,758 (GRCm39) Y96C possibly damaging Het
Nynrin A G 14: 56,101,935 (GRCm39) T535A possibly damaging Het
Or2m13 T C 16: 19,226,122 (GRCm39) I215V probably benign Het
Or4k15 A G 14: 50,364,688 (GRCm39) Y218C probably damaging Het
Or4k42 T A 2: 111,320,454 (GRCm39) probably null Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Pcdh10 G A 3: 45,335,734 (GRCm39) V683M possibly damaging Het
Per2 C T 1: 91,355,671 (GRCm39) E696K probably damaging Het
Pif1 T C 9: 65,500,545 (GRCm39) V490A probably damaging Het
Plekhn1 A T 4: 156,309,250 (GRCm39) Y219N probably benign Het
Ppl T G 16: 4,907,328 (GRCm39) E989A probably damaging Het
Prkdc T G 16: 15,488,392 (GRCm39) S505A probably benign Het
Psg16 T C 7: 16,824,321 (GRCm39) L35P probably damaging Het
Ptges A G 2: 30,793,133 (GRCm39) V33A possibly damaging Het
Qser1 G A 2: 104,607,670 (GRCm39) T1416I possibly damaging Het
Rab3a A G 8: 71,209,095 (GRCm39) D77G probably damaging Het
Rtn3 A T 19: 7,412,410 (GRCm39) V788D probably damaging Het
Rtn4r T C 16: 17,969,055 (GRCm39) L161P probably damaging Het
Rtn4rl1 G A 11: 75,156,354 (GRCm39) R262Q probably benign Het
S1pr3 A T 13: 51,573,475 (GRCm39) I219F probably damaging Het
Senp6 A G 9: 80,029,203 (GRCm39) E522G probably damaging Het
Slc27a6 A G 18: 58,742,911 (GRCm39) N533S probably benign Het
Slc39a5 T A 10: 128,233,651 (GRCm39) D282V probably damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx14 A G 9: 88,304,967 (GRCm39) I109T probably damaging Het
Sorl1 A T 9: 41,982,497 (GRCm39) V361E probably damaging Het
Sox5 G T 6: 143,779,191 (GRCm39) S648R probably damaging Het
Sptbn2 G A 19: 4,799,842 (GRCm39) S2161N probably benign Het
Sptbn2 C A 19: 4,799,843 (GRCm39) S2161R probably benign Het
St6galnac2 A G 11: 116,575,213 (GRCm39) S209P probably benign Het
Tmub1 T C 5: 24,651,944 (GRCm39) S7G probably benign Het
Trarg1 A T 11: 76,584,988 (GRCm39) probably null Het
Trpm5 C A 7: 142,623,055 (GRCm39) probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp438 A G 18: 5,214,044 (GRCm39) S305P probably benign Het
Zfp780b T C 7: 27,671,066 (GRCm39) T81A possibly 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
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
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'- GGTCCAAGAGAAGGTAGTTACC -3'
(R):5'- TGCAAAGCACAGGTTCATACTG -3'

Sequencing Primer
(F):5'- ACCTTTATCCTGTAGTGATGGGC -3'
(R):5'- GCACAGGTTCATACTGTACAGG -3'
Posted On 2018-07-24