Incidental Mutation 'R1418:Sec24b'
ID 159901
Institutional Source Beutler Lab
Gene Symbol Sec24b
Ensembl Gene ENSMUSG00000001052
Gene Name SEC24 homolog B, COPII coat complex component
Synonyms SEC24
MMRRC Submission 039474-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R1418 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129776408-129855202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129801072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 408 (N408S)
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: N537S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: N537S

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 possibly damaging
Transcript: ENSMUST00000165873
AA Change: N274S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052
AA Change: N274S

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 damaging
Transcript: ENSMUST00000168644
AA Change: N408S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126923
Gene: ENSMUSG00000001052
AA Change: N408S

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: ENSMUST00000168908
Meta Mutation Damage Score 0.2131 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency 97% (92/95)
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
5730596B20Rik T G 6: 52,156,131 (GRCm39) probably benign Het
Abtb3 C A 10: 85,481,442 (GRCm39) T948K probably damaging Het
Adamts12 T A 15: 11,286,890 (GRCm39) W832R probably damaging Het
Alb A G 5: 90,612,061 (GRCm39) probably benign Het
Arnt A G 3: 95,377,710 (GRCm39) probably benign Het
Asap2 A C 12: 21,289,586 (GRCm39) N501H probably damaging Het
Asap2 A G 12: 21,289,590 (GRCm39) E499G probably damaging Het
Atp5f1b C T 10: 127,919,167 (GRCm39) probably benign Het
Atrnl1 G A 19: 57,924,137 (GRCm39) probably null Het
AW554918 T G 18: 25,472,756 (GRCm39) probably null Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Bltp3a A G 17: 28,113,551 (GRCm39) K1241R probably benign Het
Bod1l G A 5: 41,976,814 (GRCm39) T1500I probably damaging Het
Cd101 A T 3: 100,926,091 (GRCm39) Y209* probably null Het
Cdk12 T A 11: 98,132,611 (GRCm39) S1013R unknown Het
Cntd1 T A 11: 101,176,566 (GRCm39) L221Q possibly damaging Het
Cntn4 G A 6: 106,321,831 (GRCm39) probably null Het
Col17a1 T A 19: 47,659,944 (GRCm39) D336V probably damaging Het
Creb3l4 A G 3: 90,146,045 (GRCm39) I193T possibly damaging Het
Cyp2d10 A T 15: 82,290,106 (GRCm39) probably null Het
Dcun1d3 A G 7: 119,457,158 (GRCm39) F185L probably damaging Het
Dnah17 T A 11: 117,964,849 (GRCm39) N2365Y probably damaging Het
Dnah7a T A 1: 53,686,395 (GRCm39) probably benign Het
Dnajc16 G T 4: 141,495,052 (GRCm39) S520* probably null Het
Dsg1b G T 18: 20,530,487 (GRCm39) E381* probably null Het
Dusp1 A G 17: 26,727,293 (GRCm39) V2A probably benign Het
Elf1 T C 14: 79,798,215 (GRCm39) V34A probably damaging Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Epn2 A G 11: 61,413,912 (GRCm39) S419P probably benign Het
Fat4 T C 3: 38,944,962 (GRCm39) I1285T probably damaging Het
Fcgr2b T C 1: 170,788,650 (GRCm39) Y319C probably damaging Het
Fhip2a G A 19: 57,359,594 (GRCm39) A45T possibly damaging Het
Gfra1 A C 19: 58,226,849 (GRCm39) S461A possibly damaging Het
Gli2 T G 1: 118,769,666 (GRCm39) I629L probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gnas C T 2: 174,187,007 (GRCm39) probably benign Het
Gpx3 G A 11: 54,800,422 (GRCm39) V207I probably damaging Het
Hormad2 A G 11: 4,359,005 (GRCm39) probably null Het
Hsd17b4 G T 18: 50,263,254 (GRCm39) probably benign Het
Kmt2b A G 7: 30,276,385 (GRCm39) probably benign Het
Lrch1 T C 14: 75,041,709 (GRCm39) probably benign Het
Mark3 T C 12: 111,594,271 (GRCm39) I307T possibly damaging Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mtch2 A T 2: 90,683,359 (GRCm39) probably benign Het
Mtif2 G A 11: 29,495,002 (GRCm39) V701I probably benign Het
Mug1 C T 6: 121,815,635 (GRCm39) S13L probably benign Het
Naa25 T G 5: 121,561,797 (GRCm39) L450R probably damaging Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nrp2 C T 1: 62,822,491 (GRCm39) R695* probably null Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or10s1 T A 9: 39,985,768 (GRCm39) L59H probably damaging Het
Or2z9 T C 8: 72,854,231 (GRCm39) L209P probably damaging Het
Otog G T 7: 45,924,039 (GRCm39) A1133S probably damaging Het
Pclo A T 5: 14,728,144 (GRCm39) probably benign Het
Pdcd11 A G 19: 47,118,516 (GRCm39) D1794G probably damaging Het
Pde4d C A 13: 110,086,921 (GRCm39) S609* probably null Het
Pkn3 T A 2: 29,973,059 (GRCm39) V323E probably damaging Het
Plekhd1 A G 12: 80,739,659 (GRCm39) T3A probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plppr2 C T 9: 21,859,085 (GRCm39) P401S possibly damaging Het
Poln A G 5: 34,236,319 (GRCm39) V604A probably benign Het
Pramel21 T A 4: 143,342,604 (GRCm39) I237K probably benign Het
Prkd2 A G 7: 16,603,470 (GRCm39) D800G probably benign Het
Ptprb A G 10: 116,155,375 (GRCm39) T710A probably benign Het
Qrfpr C A 3: 36,234,244 (GRCm39) G366W probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Ralbp1 A T 17: 66,166,143 (GRCm39) probably benign Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Slc38a9 T C 13: 112,826,714 (GRCm39) C151R probably benign Het
Smcr8 T C 11: 60,668,858 (GRCm39) I2T probably damaging Het
Smtnl2 T C 11: 72,292,247 (GRCm39) T301A probably damaging Het
Smyd1 G A 6: 71,239,151 (GRCm39) T13I probably benign Het
Sp110 G A 1: 85,522,106 (GRCm39) H66Y probably benign Het
Szt2 A T 4: 118,244,976 (GRCm39) S1187T probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tfap2a T A 13: 40,870,680 (GRCm39) M405L possibly damaging Het
Thap12 A G 7: 98,366,037 (GRCm39) D735G probably damaging Het
Tmem132b C A 5: 125,715,313 (GRCm39) Q341K probably benign Het
Tnip3 T C 6: 65,574,413 (GRCm39) V88A probably benign Het
Trim45 G T 3: 100,834,614 (GRCm39) M432I probably benign Het
Ttn A G 2: 76,565,755 (GRCm39) V28199A possibly damaging Het
Ube3b T C 5: 114,556,636 (GRCm39) F989S probably damaging Het
Ubox5 A G 2: 130,442,210 (GRCm39) L159P probably damaging Het
Uevld A T 7: 46,587,758 (GRCm39) V314E possibly damaging Het
Urb1 T C 16: 90,566,354 (GRCm39) M1478V probably damaging Het
Utrn C T 10: 12,589,094 (GRCm39) V871I probably benign Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Vmn1r205 T C 13: 22,777,049 (GRCm39) K18E probably benign Het
Zfp518a T A 19: 40,902,803 (GRCm39) Y911N probably damaging Het
Zfyve28 A G 5: 34,374,590 (GRCm39) C475R 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
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'- GTCTCCAAGGACTACAGCAACGTG -3'
(R):5'- CAGCATTACCCAGGTGTGAACCAG -3'

Sequencing Primer
(F):5'- cacacaccacaacccaaac -3'
(R):5'- AGCTGTCCTCAGGTCTCG -3'
Posted On 2014-03-14