Incidental Mutation 'R3121:Sec24b'
ID 263214
Institutional Source Beutler Lab
Gene Symbol Sec24b
Ensembl Gene ENSMUSG00000001052
Gene Name SEC24 homolog B, COPII coat complex component
Synonyms SEC24
MMRRC Submission 040594-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R3121 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129776408-129855202 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 129795953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001079] [ENSMUST00000001079] [ENSMUST00000165873] [ENSMUST00000165873]
AlphaFold Q80ZX0
Predicted Effect probably null
Transcript: ENSMUST00000001079
SMART Domains Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052

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 null
Transcript: ENSMUST00000001079
SMART Domains Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052

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 null
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 probably null
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
Meta Mutation Damage Score 0.9590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,966,091 (GRCm39) M423K probably benign Het
Adamtsl1 T A 4: 86,255,246 (GRCm39) W780R probably damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Amph T A 13: 19,297,316 (GRCm39) L354* probably null Het
Ankk1 G A 9: 49,338,267 (GRCm39) L9F probably benign Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Bzw2 A C 12: 36,170,788 (GRCm39) probably null Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc50 G T 16: 27,228,139 (GRCm39) R102L possibly damaging Het
Cep83 T C 10: 94,622,700 (GRCm39) V592A probably damaging Het
Cgn G A 3: 94,685,792 (GRCm39) probably benign Het
Cidec C A 6: 113,405,086 (GRCm39) V195L probably benign Het
Cntln A G 4: 84,923,289 (GRCm39) probably benign Het
Cntrob A T 11: 69,213,526 (GRCm39) L88* probably null Het
Dnah17 C T 11: 117,931,912 (GRCm39) V3687M probably damaging Het
Dst T C 1: 34,328,729 (GRCm39) I4599T probably damaging Het
Dtl A T 1: 191,285,175 (GRCm39) Y320* probably null Het
Fam98b A G 2: 117,098,408 (GRCm39) T293A probably damaging Het
Farp1 G A 14: 121,460,138 (GRCm39) probably benign Het
Fat2 G T 11: 55,202,622 (GRCm39) P151T probably damaging Het
Fbxl17 A T 17: 63,778,419 (GRCm39) M497K probably damaging Het
Foxn4 T C 5: 114,396,776 (GRCm39) T236A probably damaging Het
Gm525 C T 11: 88,979,374 (GRCm39) probably benign Het
Golga4 C A 9: 118,386,448 (GRCm39) T1190K possibly damaging Het
H2-T23 T A 17: 36,341,855 (GRCm39) M248L probably benign Het
Homez T C 14: 55,094,778 (GRCm39) E310G probably benign Het
Hydin A G 8: 111,233,138 (GRCm39) I1746V probably benign Het
Igkv1-35 T A 6: 69,988,641 (GRCm39) H6L probably benign Het
Kcnt2 T C 1: 140,356,622 (GRCm39) S354P probably damaging Het
Khdc4 A G 3: 88,596,599 (GRCm39) T127A probably damaging Het
Klra4 G T 6: 130,040,141 (GRCm39) Q44K probably benign Het
L3mbtl3 A G 10: 26,220,119 (GRCm39) probably benign Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Magea14 A T X: 51,057,968 (GRCm39) Y239* probably null Het
Map3k9 A G 12: 81,790,698 (GRCm39) I285T probably damaging Het
Or4a47 T A 2: 89,665,858 (GRCm39) I144L probably benign Het
Or6c6 A G 10: 129,186,552 (GRCm39) N40S possibly damaging Het
Pcdhb16 A T 18: 37,611,271 (GRCm39) Q77L possibly damaging Het
Pramel20 T A 4: 143,297,583 (GRCm39) M1K probably null Het
Proser3 A G 7: 30,239,796 (GRCm39) V436A probably benign Het
Relch A G 1: 105,653,524 (GRCm39) N834S probably benign Het
Resf1 T A 6: 149,230,741 (GRCm39) C1262* probably null Het
Slc2a2 A G 3: 28,775,898 (GRCm39) Q336R probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Spidr T C 16: 15,958,724 (GRCm39) K13E probably damaging Het
Tiam2 T A 17: 3,489,977 (GRCm39) M786K probably benign Het
Tktl2 T A 8: 66,964,808 (GRCm39) V122E probably damaging Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Zbbx T C 3: 74,989,153 (GRCm39) T317A possibly damaging Het
Zfp976 A G 7: 42,262,938 (GRCm39) C300R 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
R0583:Sec24b UTSW 3 129,834,960 (GRCm39) nonsense probably null
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
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'- TGCTTTTCGTTCATAAGCCATAGC -3'
(R):5'- GCCTGGTTCTCTCAGAAAATACC -3'

Sequencing Primer
(F):5'- GCCATAGCTAACGTTTCTTAGCAAGC -3'
(R):5'- GTTTTTGTACAACCCCCTG -3'
Posted On 2015-02-05