Incidental Mutation 'R1716:Sec24b'
ID 190989
Institutional Source Beutler Lab
Gene Symbol Sec24b
Ensembl Gene ENSMUSG00000001052
Gene Name SEC24 homolog B, COPII coat complex component
Synonyms SEC24
MMRRC Submission 039749-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R1716 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 129776408-129855202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129834665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 42 (S42T)
Ref Sequence ENSEMBL: ENSMUSP00000126923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001079] [ENSMUST00000165873] [ENSMUST00000168644]
AlphaFold Q80ZX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000001079
AA Change: S178T

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: S178T

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 possibly damaging
Transcript: ENSMUST00000168644
AA Change: S42T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126923
Gene: ENSMUSG00000001052
AA Change: S42T

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,731,946 (GRCm39) T2A unknown Het
Adgrf3 T A 5: 30,402,549 (GRCm39) Q493L probably benign Het
Ak6 T C 13: 100,792,177 (GRCm39) S207P probably benign Het
Ang A G 14: 51,338,937 (GRCm39) D26G probably benign Het
Ang T C 14: 51,338,957 (GRCm39) F33L probably damaging Het
Arhgef38 T A 3: 132,846,598 (GRCm39) Y389F probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bicd2 C A 13: 49,531,786 (GRCm39) H343N probably benign Het
Casp4 G A 9: 5,308,919 (GRCm39) probably null Het
Cd22 A G 7: 30,577,103 (GRCm39) F68S probably damaging Het
Cd46 T A 1: 194,760,117 (GRCm39) Q245L probably benign Het
Cntnap2 A T 6: 47,084,826 (GRCm39) R1096* probably null Het
Cntnap3 A G 13: 64,909,816 (GRCm39) V763A probably damaging Het
Cyp3a11 T C 5: 145,805,776 (GRCm39) T171A probably benign Het
Defa30 A G 8: 21,625,431 (GRCm39) Y65C probably damaging Het
Defb18 A T 1: 18,306,875 (GRCm39) M27K probably benign Het
Dnah17 A G 11: 117,923,424 (GRCm39) S4071P probably benign Het
Dnah7b T A 1: 46,230,943 (GRCm39) D1400E probably damaging Het
Dpysl5 C T 5: 30,935,338 (GRCm39) T147I probably benign Het
Dsg4 C T 18: 20,595,518 (GRCm39) R574* probably null Het
Entrep2 A T 7: 64,426,633 (GRCm39) probably null Het
Epm2a A G 10: 11,324,580 (GRCm39) E223G probably benign Het
Etl4 T C 2: 20,748,492 (GRCm39) S75P probably damaging Het
Fbxw15 T A 9: 109,386,204 (GRCm39) M312L probably benign Het
Fcgr4 C T 1: 170,847,672 (GRCm39) T90I probably damaging Het
Fras1 T A 5: 96,700,584 (GRCm39) D201E probably benign Het
Gadl1 A T 9: 115,835,576 (GRCm39) K335* probably null Het
Gcsam T G 16: 45,440,356 (GRCm39) V133G probably damaging Het
Gml G T 15: 74,685,665 (GRCm39) L107I possibly damaging Het
Golga2 T A 2: 32,192,909 (GRCm39) L409Q probably damaging Het
Gtf2a1l A T 17: 89,002,008 (GRCm39) Q241L probably benign Het
Gtf3c3 A G 1: 54,438,419 (GRCm39) Y799H probably damaging Het
Guca1b T G 17: 47,702,126 (GRCm39) probably benign Het
Igdcc4 C A 9: 65,034,179 (GRCm39) H617Q probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Itga2b A C 11: 102,351,603 (GRCm39) I574S probably benign Het
Kcnk7 A T 19: 5,756,859 (GRCm39) I283F probably damaging Het
Kirrel3 T A 9: 34,934,843 (GRCm39) L450M probably damaging Het
Lmntd1 A T 6: 145,365,600 (GRCm39) S176R probably damaging Het
Lrrc39 C T 3: 116,373,216 (GRCm39) T292I probably benign Het
Ltbp1 A T 17: 75,622,019 (GRCm39) H801L probably benign Het
Macf1 T A 4: 123,295,196 (GRCm39) Q3318L probably damaging Het
Man1b1 T A 2: 25,235,032 (GRCm39) N282K probably benign Het
Map2k6 A T 11: 110,388,727 (GRCm39) E223V probably damaging Het
Marf1 C A 16: 13,960,450 (GRCm39) R531S possibly damaging Het
Mfge8 G A 7: 78,792,191 (GRCm39) R245C probably damaging Het
Mogat1 T G 1: 78,514,681 (GRCm39) N318K probably benign Het
Myh4 T A 11: 67,141,135 (GRCm39) S732R possibly damaging Het
Myt1l T A 12: 29,861,537 (GRCm39) D106E unknown Het
Ndc1 T C 4: 107,241,992 (GRCm39) F302L probably damaging Het
Ndrg4 C T 8: 96,438,956 (GRCm39) A290V probably benign Het
Nfia A T 4: 97,951,365 (GRCm39) K397N probably damaging Het
Nlrp4e A T 7: 23,020,458 (GRCm39) Q315L possibly damaging Het
Oga C A 19: 45,740,613 (GRCm39) K907N probably benign Het
Or10p22 A C 10: 128,826,721 (GRCm39) *313C probably null Het
Or1ad8 T A 11: 50,898,679 (GRCm39) N293K probably damaging Het
Peg3 T C 7: 6,710,780 (GRCm39) I1481V possibly damaging Het
Phldb2 C T 16: 45,595,413 (GRCm39) G883D probably benign Het
Pik3c2b T A 1: 133,022,564 (GRCm39) Y1169N probably damaging Het
Plcl1 A T 1: 55,734,997 (GRCm39) I113F probably damaging Het
Pomt2 T C 12: 87,171,610 (GRCm39) I457V probably benign Het
Ppil1 T C 17: 29,480,809 (GRCm39) N38S possibly damaging Het
Prf1 A G 10: 61,136,231 (GRCm39) N169S probably benign Het
Prmt8 A C 6: 127,703,486 (GRCm39) probably null Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Rab12 A T 17: 66,807,315 (GRCm39) M138K possibly damaging Het
Reln T C 5: 22,160,093 (GRCm39) T2159A probably damaging Het
Retsat A T 6: 72,583,063 (GRCm39) Y36F probably damaging Het
Rgs14 A T 13: 55,526,696 (GRCm39) Q116L probably damaging Het
Rlbp1 A T 7: 79,025,684 (GRCm39) N252K probably damaging Het
Rtraf A G 14: 19,862,242 (GRCm39) L215P probably damaging Het
Sec1 A T 7: 45,328,789 (GRCm39) M86K probably benign Het
Serpinb9d T C 13: 33,380,500 (GRCm39) S129P probably damaging Het
Slc35f5 T G 1: 125,512,269 (GRCm39) D356E possibly damaging Het
Smpd4 T C 16: 17,460,365 (GRCm39) S694P probably damaging Het
Spag6 G T 2: 18,750,420 (GRCm39) probably null Het
Spata31d1c T C 13: 65,181,030 (GRCm39) I43T possibly damaging Het
Ssh1 T C 5: 114,090,081 (GRCm39) D314G possibly damaging Het
Tnfrsf17 G A 16: 11,137,595 (GRCm39) D111N probably benign Het
Ttn A G 2: 76,553,635 (GRCm39) I30994T probably damaging Het
Ttn A T 2: 76,614,320 (GRCm39) F8737L probably damaging Het
Ush1c G T 7: 45,845,152 (GRCm39) F890L probably benign Het
Usp36 C T 11: 118,162,957 (GRCm39) probably null Het
Vmn2r115 T C 17: 23,566,795 (GRCm39) Y436H probably benign Het
Vmn2r94 T A 17: 18,477,635 (GRCm39) M259L probably benign Het
Wwp1 T C 4: 19,659,698 (GRCm39) T197A probably benign Het
Zbtb37 T A 1: 160,847,814 (GRCm39) M398L probably benign Het
Zfp804b C T 5: 6,819,673 (GRCm39) C1130Y probably benign Het
Zfp9 A G 6: 118,441,712 (GRCm39) C317R probably damaging Het
Zscan20 T C 4: 128,480,334 (GRCm39) H719R 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
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'- ATCCTGAATGACTCTGCTGCTGC -3'
(R):5'- TGACCTCCTTGCCATTGGATAGCC -3'

Sequencing Primer
(F):5'- ACTctgctgctgctgctg -3'
(R):5'- AGCCAGTGTGATAGTTACTACTCTC -3'
Posted On 2014-05-14