Incidental Mutation 'R8939:Sec23b'
ID 680821
Institutional Source Beutler Lab
Gene Symbol Sec23b
Ensembl Gene ENSMUSG00000027429
Gene Name SEC23 homolog B, COPII coat complex component
Synonyms
MMRRC Submission 068712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8939 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 144398165-144432673 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 144411137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028916] [ENSMUST00000143573] [ENSMUST00000149697] [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 benign
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 probably benign
Transcript: ENSMUST00000149697
SMART Domains Protein: ENSMUSP00000122819
Gene: ENSMUSG00000027429

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 8.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155876
SMART Domains Protein: ENSMUSP00000122884
Gene: ENSMUSG00000027429

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 57 98 1.1e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,225,162 (GRCm39) V12A probably benign Het
Abcc12 A G 8: 87,243,947 (GRCm39) Y1069H probably damaging Het
Abcc9 T C 6: 142,624,977 (GRCm39) T473A probably damaging Het
Acsm1 A T 7: 119,239,868 (GRCm39) T271S probably benign Het
Adh6b T C 3: 138,055,397 (GRCm39) I49T probably benign Het
Aff4 A T 11: 53,263,231 (GRCm39) T84S probably benign Het
Angptl7 G A 4: 148,580,956 (GRCm39) R280* probably null Het
Bhlhe23 T A 2: 180,418,099 (GRCm39) K146N probably damaging Het
Cacna1s T C 1: 136,014,544 (GRCm39) probably null Het
Cfap45 C G 1: 172,372,834 (GRCm39) R510G probably damaging Het
Chl1 A G 6: 103,642,868 (GRCm39) Y202C probably damaging Het
Chrna6 T A 8: 27,896,870 (GRCm39) T336S probably benign Het
Clpx A G 9: 65,231,519 (GRCm39) K535E probably benign Het
Crybg3 T C 16: 59,376,512 (GRCm39) M1581V probably benign Het
Ddx4 A T 13: 112,758,823 (GRCm39) I246K probably benign Het
F7 G T 8: 13,078,724 (GRCm39) G52C probably damaging Het
Fam186b T C 15: 99,177,223 (GRCm39) Q701R probably benign Het
Fign T A 2: 63,809,456 (GRCm39) M605L probably benign Het
Fpr2 T C 17: 18,113,883 (GRCm39) F293S probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gria2 A T 3: 80,618,170 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gsto2 T C 19: 47,873,203 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,299 (GRCm39) W231R probably damaging Het
Igflr1 CAGAG CAG 7: 30,266,888 (GRCm39) probably null Het
Ighv1-80 C T 12: 115,876,113 (GRCm39) G68R probably damaging Het
Il10ra A G 9: 45,177,802 (GRCm39) V69A unknown Het
Klhdc1 C T 12: 69,300,537 (GRCm39) A159V probably damaging Het
Krtap4-6 A G 11: 99,556,229 (GRCm39) I166T unknown Het
Lce1h A T 3: 92,670,976 (GRCm39) C59S unknown Het
Magi3 T C 3: 103,996,748 (GRCm39) probably benign Het
Map3k1 G T 13: 111,892,837 (GRCm39) S806* probably null Het
Map3k6 T A 4: 132,979,954 (GRCm39) probably benign Het
Mgam G A 6: 40,740,137 (GRCm39) probably null Het
Mtx1 A G 3: 89,120,033 (GRCm39) V207A probably damaging Het
Muc5ac A T 7: 141,347,091 (GRCm39) N356Y probably damaging Het
Myo16 T C 8: 10,524,679 (GRCm39) F810S probably damaging Het
Nlrx1 A G 9: 44,166,761 (GRCm39) L774P probably damaging Het
Nr1i2 C T 16: 38,086,382 (GRCm39) V28I probably benign Het
Or10h28 A G 17: 33,488,589 (GRCm39) K297R probably damaging Het
Or5b122 A C 19: 13,562,860 (GRCm39) N64T probably damaging Het
Pcmtd2 T C 2: 181,496,863 (GRCm39) probably benign Het
Pcnx3 A G 19: 5,730,347 (GRCm39) L102P probably damaging Het
Pnpla6 A G 8: 3,571,319 (GRCm39) E114G possibly damaging Het
Ppp4r1 T C 17: 66,110,926 (GRCm39) V70A probably damaging Het
Psd2 G A 18: 36,121,292 (GRCm39) V421M probably damaging Het
Qng1 C T 13: 58,532,875 (GRCm39) A32T probably damaging Het
Rbak C T 5: 143,160,025 (GRCm39) E343K possibly damaging Het
Rhbdf1 G A 11: 32,160,093 (GRCm39) A136V probably benign Het
Rusc1 T A 3: 88,995,337 (GRCm39) E231D probably benign Het
Rxfp1 T C 3: 79,552,231 (GRCm39) E690G probably damaging Het
Sdr9c7 A G 10: 127,734,776 (GRCm39) E88G probably benign Het
Sgcb A T 5: 73,801,661 (GRCm39) I68N probably damaging Het
Sh3pxd2b T C 11: 32,364,433 (GRCm39) probably benign Het
Slc25a48 C T 13: 56,611,519 (GRCm39) P209S probably damaging Het
Slc9a3 C A 13: 74,311,895 (GRCm39) H614Q possibly damaging Het
Slurp1 G A 15: 74,598,763 (GRCm39) S76L probably damaging Het
Spen T C 4: 141,202,969 (GRCm39) E1886G possibly damaging Het
Sqor C T 2: 122,649,549 (GRCm39) P151S possibly damaging Het
Sstr4 C A 2: 148,238,228 (GRCm39) L280M probably damaging Het
Stard10 A G 7: 100,991,847 (GRCm39) Y117C probably damaging Het
Stard13 A T 5: 150,968,574 (GRCm39) probably null Het
Stim2 G T 5: 54,262,673 (GRCm39) R305L possibly damaging Het
Syt14 G A 1: 192,612,896 (GRCm39) R635C probably damaging Het
Tmcc3 A T 10: 94,381,483 (GRCm39) probably benign Het
Ttn T C 2: 76,575,695 (GRCm39) N23320S possibly damaging Het
Ubqln4 A G 3: 88,473,023 (GRCm39) T493A probably benign Het
Ugt2b34 A G 5: 87,039,158 (GRCm39) L501P probably damaging Het
Umod T C 7: 119,068,700 (GRCm39) I449V probably damaging Het
Vmn2r51 C A 7: 9,833,953 (GRCm39) D362Y possibly damaging Het
Xirp2 A C 2: 67,346,488 (GRCm39) T2910P probably benign Het
Zscan20 A G 4: 128,498,315 (GRCm39) S28P 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
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
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
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'- GTAAGATGTACCTTGGGAACTGTATTC -3'
(R):5'- TGATGGCCTAGTATGCTGGC -3'

Sequencing Primer
(F):5'- GGGAACTGTATTCTGTCTCCTAATAG -3'
(R):5'- GCCTAGTATGCTGGCAAGTCTAAC -3'
Posted On 2021-08-31