Incidental Mutation 'R0583:Sec24b'
ID 56495
Institutional Source Beutler Lab
Gene Symbol Sec24b
Ensembl Gene ENSMUSG00000001052
Gene Name SEC24 homolog B, COPII coat complex component
Synonyms SEC24
MMRRC Submission 038773-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R0583 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 129776408-129855202 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 129834960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 79 (Y79*)
Ref Sequence ENSEMBL: ENSMUSP00000001079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001079] [ENSMUST00000165873] [ENSMUST00000168644]
AlphaFold Q80ZX0
Predicted Effect probably null
Transcript: ENSMUST00000001079
AA Change: Y79*
SMART Domains Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: Y79*

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 127 143 N/A INTRINSIC
low complexity region 229 254 N/A INTRINSIC
low complexity region 316 333 N/A INTRINSIC
low complexity region 351 362 N/A INTRINSIC
low complexity region 363 373 N/A INTRINSIC
low complexity region 378 386 N/A INTRINSIC
low complexity region 419 444 N/A INTRINSIC
low complexity region 450 473 N/A INTRINSIC
low complexity region 486 505 N/A INTRINSIC
low complexity region 555 568 N/A INTRINSIC
Pfam:zf-Sec23_Sec24 585 622 4.1e-17 PFAM
Pfam:Sec23_trunk 658 897 2.4e-87 PFAM
Pfam:Sec23_BS 902 986 3.4e-23 PFAM
Pfam:Sec23_helical 999 1099 8.7e-31 PFAM
Pfam:Gelsolin 1122 1197 4.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165873
SMART Domains Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
low complexity region 88 105 N/A INTRINSIC
low complexity region 115 123 N/A INTRINSIC
low complexity region 156 181 N/A INTRINSIC
low complexity region 187 210 N/A INTRINSIC
low complexity region 223 242 N/A INTRINSIC
low complexity region 292 305 N/A INTRINSIC
Pfam:zf-Sec23_Sec24 321 359 2.5e-18 PFAM
Pfam:Sec23_trunk 395 634 1.6e-87 PFAM
Pfam:Sec23_BS 639 723 2.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165889
Predicted Effect probably benign
Transcript: ENSMUST00000168644
SMART Domains Protein: ENSMUSP00000126923
Gene: ENSMUSG00000001052

DomainStartEndE-ValueType
low complexity region 93 118 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
low complexity region 249 257 N/A INTRINSIC
low complexity region 290 315 N/A INTRINSIC
low complexity region 321 344 N/A INTRINSIC
low complexity region 357 376 N/A INTRINSIC
PDB:3EH1|A 377 411 1e-11 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168675
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 93.2%
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 SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit craniorachischisis, abnormal embryo shape, omphalocele, disoriented hair cells, and failure of eyelid fusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,926 (GRCm39) S483P probably benign Het
5730480H06Rik A G 5: 48,537,470 (GRCm39) H169R probably damaging Het
Actn1 T A 12: 80,245,803 (GRCm39) I127F probably damaging Het
Cadm3 T G 1: 173,168,738 (GRCm39) T277P probably benign Het
Cast T C 13: 74,861,797 (GRCm39) T629A probably damaging Het
Cblc C A 7: 19,526,486 (GRCm39) C201F probably benign Het
Ccdc154 T A 17: 25,387,398 (GRCm39) D375E possibly damaging Het
Cdk6 A G 5: 3,523,183 (GRCm39) D201G probably damaging Het
Cep95 T C 11: 106,705,449 (GRCm39) V478A probably benign Het
Ciita T C 16: 10,341,668 (GRCm39) probably null Het
Clec4e A G 6: 123,260,653 (GRCm39) F135S probably damaging Het
Cntn6 A G 6: 104,753,275 (GRCm39) D337G possibly damaging Het
Crlf3 A T 11: 79,950,107 (GRCm39) H174Q probably damaging Het
Cyb5r1 T A 1: 134,335,339 (GRCm39) F93I probably damaging Het
Dop1b T C 16: 93,552,374 (GRCm39) I271T probably benign Het
Duxf1 G A 10: 58,059,210 (GRCm39) L515F probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fhad1 C T 4: 141,631,301 (GRCm39) M1297I probably benign Het
Igdcc4 T C 9: 65,029,095 (GRCm39) V244A possibly damaging Het
Ikzf5 A G 7: 130,993,514 (GRCm39) probably null Het
Ilvbl T A 10: 78,419,101 (GRCm39) V450E probably damaging Het
Kcns3 T G 12: 11,141,479 (GRCm39) N407H probably damaging Het
Klhl11 T C 11: 100,355,150 (GRCm39) K224E possibly damaging Het
Klra17 T A 6: 129,845,656 (GRCm39) D186V probably damaging Het
Lrrc37a T C 11: 103,389,263 (GRCm39) D2054G probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrgbp A G 2: 180,226,239 (GRCm39) N104S probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Muc5ac C A 7: 141,361,345 (GRCm39) T1552N probably damaging Het
Muc5b T A 7: 141,410,435 (GRCm39) Y1269* probably null Het
Myef2 T C 2: 124,939,901 (GRCm39) probably null Het
Myg1 C T 15: 102,246,225 (GRCm39) Q367* probably null Het
Nalcn T C 14: 123,531,755 (GRCm39) N1365S possibly damaging Het
Nfu1 T C 6: 86,986,934 (GRCm39) C18R probably benign Het
Nkx2-6 A T 14: 69,412,228 (GRCm39) Q132L probably damaging Het
Or10a3b C T 7: 108,444,621 (GRCm39) A199T possibly damaging Het
Or8k38 T A 2: 86,488,704 (GRCm39) I33F probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prh1 A T 6: 132,548,796 (GRCm39) Q101L unknown Het
Ribc2 A T 15: 85,017,115 (GRCm39) probably null Het
Rnf19a C A 15: 36,253,151 (GRCm39) R396L probably damaging Het
Sdad1 A G 5: 92,452,923 (GRCm39) I105T probably damaging Het
Tatdn2 A G 6: 113,679,486 (GRCm39) E277G possibly damaging Het
Tex10 A C 4: 48,451,952 (GRCm39) F725V probably damaging Het
Themis3 T C 17: 66,866,748 (GRCm39) D164G probably benign Het
Ubxn7 T C 16: 32,194,732 (GRCm39) W220R probably damaging Het
Usp33 C A 3: 152,073,891 (GRCm39) R246S probably damaging Het
Vmn2r102 T A 17: 19,897,043 (GRCm39) V130E probably benign Het
Vmn2r112 C T 17: 22,837,930 (GRCm39) P797L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Yme1l1 T C 2: 23,076,262 (GRCm39) V340A probably damaging Het
Zfta A G 19: 7,397,639 (GRCm39) D62G probably damaging Het
Other mutations in Sec24b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Sec24b APN 3 129,814,295 (GRCm39) intron probably benign
IGL01137:Sec24b APN 3 129,801,093 (GRCm39) missense probably benign 0.02
IGL01370:Sec24b APN 3 129,801,253 (GRCm39) splice site probably benign
IGL01931:Sec24b APN 3 129,803,448 (GRCm39) missense probably benign 0.00
PIT4696001:Sec24b UTSW 3 129,788,040 (GRCm39) missense probably benign 0.01
R0193:Sec24b UTSW 3 129,782,633 (GRCm39) missense probably null
R0194:Sec24b UTSW 3 129,777,814 (GRCm39) critical splice donor site probably null
R0403:Sec24b UTSW 3 129,793,183 (GRCm39) missense probably damaging 1.00
R0403:Sec24b UTSW 3 129,783,325 (GRCm39) missense possibly damaging 0.81
R0576:Sec24b UTSW 3 129,834,985 (GRCm39) missense probably benign 0.11
R0963:Sec24b UTSW 3 129,834,554 (GRCm39) missense probably benign 0.02
R0967:Sec24b UTSW 3 129,790,431 (GRCm39) missense probably damaging 1.00
R1344:Sec24b UTSW 3 129,801,072 (GRCm39) missense probably damaging 1.00
R1418:Sec24b UTSW 3 129,801,072 (GRCm39) missense probably damaging 1.00
R1594:Sec24b UTSW 3 129,785,000 (GRCm39) missense probably benign 0.00
R1716:Sec24b UTSW 3 129,834,665 (GRCm39) missense possibly damaging 0.89
R1938:Sec24b UTSW 3 129,785,010 (GRCm39) missense possibly damaging 0.82
R2020:Sec24b UTSW 3 129,781,377 (GRCm39) missense probably damaging 1.00
R2407:Sec24b UTSW 3 129,795,965 (GRCm39) missense probably benign 0.02
R2415:Sec24b UTSW 3 129,789,729 (GRCm39) missense probably benign 0.00
R3121:Sec24b UTSW 3 129,795,953 (GRCm39) critical splice donor site probably null
R3729:Sec24b UTSW 3 129,827,482 (GRCm39) missense possibly damaging 0.95
R3731:Sec24b UTSW 3 129,827,482 (GRCm39) missense possibly damaging 0.95
R3789:Sec24b UTSW 3 129,814,276 (GRCm39) missense probably benign 0.00
R4229:Sec24b UTSW 3 129,834,368 (GRCm39) missense probably benign 0.24
R4230:Sec24b UTSW 3 129,834,368 (GRCm39) missense probably benign 0.24
R4617:Sec24b UTSW 3 129,834,413 (GRCm39) missense possibly damaging 0.94
R4856:Sec24b UTSW 3 129,777,619 (GRCm39) missense probably benign 0.07
R4886:Sec24b UTSW 3 129,777,619 (GRCm39) missense probably benign 0.07
R4913:Sec24b UTSW 3 129,796,028 (GRCm39) missense probably benign 0.07
R5510:Sec24b UTSW 3 129,834,544 (GRCm39) missense probably damaging 1.00
R5601:Sec24b UTSW 3 129,834,483 (GRCm39) small insertion probably benign
R6167:Sec24b UTSW 3 129,782,550 (GRCm39) missense possibly damaging 0.88
R6314:Sec24b UTSW 3 129,800,894 (GRCm39) splice site probably null
R6442:Sec24b UTSW 3 129,790,350 (GRCm39) missense probably damaging 1.00
R6512:Sec24b UTSW 3 129,834,946 (GRCm39) missense probably damaging 1.00
R6743:Sec24b UTSW 3 129,834,881 (GRCm39) missense probably damaging 0.98
R7081:Sec24b UTSW 3 129,781,391 (GRCm39) missense probably benign 0.00
R7179:Sec24b UTSW 3 129,782,595 (GRCm39) missense probably damaging 1.00
R7214:Sec24b UTSW 3 129,827,509 (GRCm39) missense probably benign 0.19
R7332:Sec24b UTSW 3 129,835,042 (GRCm39) missense probably benign 0.10
R7414:Sec24b UTSW 3 129,803,514 (GRCm39) missense probably benign 0.01
R7599:Sec24b UTSW 3 129,834,460 (GRCm39) small insertion probably benign
R7774:Sec24b UTSW 3 129,777,846 (GRCm39) missense possibly damaging 0.88
R7895:Sec24b UTSW 3 129,789,598 (GRCm39) missense probably benign 0.13
R8146:Sec24b UTSW 3 129,789,573 (GRCm39) nonsense probably null
R8217:Sec24b UTSW 3 129,834,599 (GRCm39) missense possibly damaging 0.94
R8344:Sec24b UTSW 3 129,798,650 (GRCm39) missense probably damaging 0.97
R8525:Sec24b UTSW 3 129,805,467 (GRCm39) missense probably damaging 1.00
R8699:Sec24b UTSW 3 129,798,653 (GRCm39) missense probably damaging 1.00
R8783:Sec24b UTSW 3 129,783,342 (GRCm39) missense probably benign
R8929:Sec24b UTSW 3 129,803,507 (GRCm39) missense possibly damaging 0.80
R8967:Sec24b UTSW 3 129,785,084 (GRCm39) missense probably damaging 1.00
R9332:Sec24b UTSW 3 129,801,220 (GRCm39) missense probably benign 0.01
R9355:Sec24b UTSW 3 129,787,489 (GRCm39) missense possibly damaging 0.60
R9660:Sec24b UTSW 3 129,790,422 (GRCm39) missense probably damaging 1.00
R9728:Sec24b UTSW 3 129,790,422 (GRCm39) missense probably damaging 1.00
R9781:Sec24b UTSW 3 129,789,742 (GRCm39) missense probably damaging 0.98
X0065:Sec24b UTSW 3 129,790,004 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATTGGCAGAGTACGTGGTAGGAC -3'
(R):5'- TGGACTCCTCAAGGGTTAGAGAGC -3'

Sequencing Primer
(F):5'- GGACTACTGTAGCGATTCCCAAG -3'
(R):5'- TGGCTACATGATGCCTGTAAC -3'
Posted On 2013-07-11