Incidental Mutation 'R7332:Sec24b'
ID 569282
Institutional Source Beutler Lab
Gene Symbol Sec24b
Ensembl Gene ENSMUSG00000001052
Gene Name SEC24 homolog B, COPII coat complex component
Synonyms SEC24
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R7332 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 129776408-129855202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129835042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 52 (N52S)
Ref Sequence ENSEMBL: ENSMUSP00000001079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001079] [ENSMUST00000165873] [ENSMUST00000168644]
AlphaFold Q80ZX0
Predicted Effect probably benign
Transcript: ENSMUST00000001079
AA Change: N52S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: N52S

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Atp6v0c A C 17: 24,388,198 (GRCm39) S21A probably benign Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Cfap44 T A 16: 44,250,191 (GRCm39) D756E probably damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Fggy A T 4: 95,511,719 (GRCm39) N157I probably damaging Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kcna6 A G 6: 126,716,292 (GRCm39) F199S possibly damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Ssh2 T A 11: 77,344,349 (GRCm39) I778N possibly damaging Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Wdr59 G A 8: 112,220,986 (GRCm39) T182I Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C 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
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
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'- CTGCCATACATCTGCTGTGC -3'
(R):5'- CTCCTCAAGGGTTAGAGAGCAG -3'

Sequencing Primer
(F):5'- ATACATCTGCTGTGCTCCTGG -3'
(R):5'- AGTCTGGCTACATGATGCCTGTAAC -3'
Posted On 2019-09-13