Incidental Mutation 'R7943:Sec16b'
ID 649134
Institutional Source Beutler Lab
Gene Symbol Sec16b
Ensembl Gene ENSMUSG00000026589
Gene Name SEC16 homolog B, endoplasmic reticulum export factor
Synonyms Lztr2, Rgpr, Rgpr-p117
MMRRC Submission 045989-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7943 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 157334303-157395995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157382327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 588 (M588L)
Ref Sequence ENSEMBL: ENSMUSP00000027881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027881] [ENSMUST00000086130] [ENSMUST00000111700] [ENSMUST00000146873]
AlphaFold Q91XT4
Predicted Effect probably benign
Transcript: ENSMUST00000027881
AA Change: M588L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: M588L

DomainStartEndE-ValueType
low complexity region 212 232 N/A INTRINSIC
Pfam:Sec16 270 371 1.7e-19 PFAM
Pfam:Sec16_C 436 681 1e-38 PFAM
low complexity region 795 810 N/A INTRINSIC
low complexity region 858 876 N/A INTRINSIC
low complexity region 900 909 N/A INTRINSIC
low complexity region 915 963 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086130
AA Change: M588L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: M588L

DomainStartEndE-ValueType
low complexity region 212 232 N/A INTRINSIC
Pfam:Sec16 271 370 4.8e-8 PFAM
Pfam:Sec16_C 437 677 2.2e-45 PFAM
low complexity region 795 810 N/A INTRINSIC
low complexity region 858 876 N/A INTRINSIC
low complexity region 900 909 N/A INTRINSIC
low complexity region 915 963 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111700
AA Change: M588L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: M588L

DomainStartEndE-ValueType
low complexity region 212 232 N/A INTRINSIC
Pfam:Sec16 270 371 1.7e-19 PFAM
Pfam:Sec16_C 436 681 1e-38 PFAM
low complexity region 795 810 N/A INTRINSIC
low complexity region 858 876 N/A INTRINSIC
low complexity region 900 909 N/A INTRINSIC
low complexity region 915 963 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146873
AA Change: M399L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119359
Gene: ENSMUSG00000026589
AA Change: M399L

DomainStartEndE-ValueType
low complexity region 23 43 N/A INTRINSIC
Pfam:Sec16 81 182 9.4e-20 PFAM
Pfam:Sec16_C 247 492 4.8e-39 PFAM
low complexity region 606 621 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,736,222 (GRCm39) T205I probably benign Het
Acsbg1 T C 9: 54,530,021 (GRCm39) H225R probably damaging Het
Anks1 T A 17: 28,204,178 (GRCm39) Y209N probably damaging Het
Appl1 T A 14: 26,667,525 (GRCm39) I377L probably benign Het
Arl9 A T 5: 77,158,395 (GRCm39) D159V probably damaging Het
Arsa A C 15: 89,358,292 (GRCm39) L339R probably damaging Het
C2 A G 17: 35,091,354 (GRCm39) L380P probably damaging Het
Ccdc13 A G 9: 121,628,196 (GRCm39) C97R unknown Het
Ccdc74a A G 16: 17,468,416 (GRCm39) H346R probably benign Het
Ccnl1 T C 3: 65,864,326 (GRCm39) I152V probably benign Het
Cd4 C T 6: 124,847,207 (GRCm39) probably null Het
Ceacam5 A T 7: 17,479,491 (GRCm39) I203L probably benign Het
Ckap2 C A 8: 22,665,090 (GRCm39) R458L probably damaging Het
Cldn10 T C 14: 119,099,271 (GRCm39) probably null Het
Col27a1 C T 4: 63,236,520 (GRCm39) R1377C unknown Het
Cry1 A T 10: 84,978,984 (GRCm39) M514K probably benign Het
Crybg2 T G 4: 133,800,295 (GRCm39) V176G probably damaging Het
Cyp2j5 C T 4: 96,547,849 (GRCm39) G131D possibly damaging Het
Ddx46 A G 13: 55,817,535 (GRCm39) Y720C probably damaging Het
Dock10 A T 1: 80,626,006 (GRCm39) V44D probably damaging Het
Eif1ad8 C T 12: 87,563,773 (GRCm39) A36V probably damaging Het
Enam A T 5: 88,636,410 (GRCm39) probably null Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam184a C T 10: 53,523,137 (GRCm39) A956T probably damaging Het
Fbxw10 A T 11: 62,741,487 (GRCm39) R202* probably null Het
Fnip1 A G 11: 54,393,214 (GRCm39) E550G probably damaging Het
Gpr149 A G 3: 62,438,132 (GRCm39) L675P probably damaging Het
Hivep3 T C 4: 119,989,554 (GRCm39) Y2002H probably benign Het
Hp A G 8: 110,302,187 (GRCm39) Y254H probably damaging Het
Ighg1 G T 12: 113,293,957 (GRCm39) T62N Het
Jcad A G 18: 4,672,700 (GRCm39) E154G probably damaging Het
Kmt2a A G 9: 44,760,437 (GRCm39) S471P probably damaging Het
Med13 A G 11: 86,169,352 (GRCm39) V1968A probably damaging Het
Mknk2 T A 10: 80,511,701 (GRCm39) Q3L probably benign Het
Nup98 G A 7: 101,844,029 (GRCm39) T65I probably benign Het
Or10p21 T A 10: 128,847,934 (GRCm39) M260K possibly damaging Het
Or51f1e G A 7: 102,747,153 (GRCm39) M68I probably damaging Het
Or5m11 A G 2: 85,782,342 (GRCm39) T312A probably benign Het
Or9i14 A T 19: 13,792,600 (GRCm39) M118K probably damaging Het
Pcdhgb4 C T 18: 37,855,063 (GRCm39) T486I probably benign Het
Perm1 T A 4: 156,302,991 (GRCm39) F512I probably damaging Het
Pgap3 A T 11: 98,281,227 (GRCm39) L262Q probably damaging Het
Pklr A C 3: 89,048,814 (GRCm39) Y126S probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppm1k T C 6: 57,501,813 (GRCm39) T117A probably benign Het
Prkd2 G A 7: 16,584,244 (GRCm39) E366K probably benign Het
Psd C A 19: 46,313,169 (GRCm39) C67F possibly damaging Het
Ptpra T A 2: 30,322,056 (GRCm39) F100L probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rock1 T C 18: 10,112,357 (GRCm39) E466G probably damaging Het
Serpina1f T A 12: 103,659,949 (GRCm39) H111L probably damaging Het
Sf3a1 T C 11: 4,116,537 (GRCm39) I76T possibly damaging Het
Shcbp1 A T 8: 4,798,812 (GRCm39) L369Q possibly damaging Het
Spef2 A G 15: 9,601,171 (GRCm39) M1697T unknown Het
St7 G A 6: 17,844,911 (GRCm39) C133Y probably damaging Het
Tdpoz6 A T 3: 93,600,070 (GRCm39) C100S probably benign Het
Tex19.1 T A 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tfrc T A 16: 32,449,039 (GRCm39) I726N probably benign Het
Thbs1 A G 2: 117,950,098 (GRCm39) probably null Het
Trim43a C T 9: 88,464,238 (GRCm39) P50S probably benign Het
Trpm4 A T 7: 44,958,105 (GRCm39) V935E probably damaging Het
Ttc12 A T 9: 49,381,620 (GRCm39) V117D possibly damaging Het
Ulbp1 T C 10: 7,407,053 (GRCm39) T82A probably damaging Het
Usp13 C T 3: 32,931,089 (GRCm39) H288Y probably damaging Het
Vmn2r82 A G 10: 79,232,079 (GRCm39) K693E possibly damaging Het
Vmn2r90 A G 17: 17,932,566 (GRCm39) T158A probably damaging Het
Vps8 A G 16: 21,296,622 (GRCm39) K540R possibly damaging Het
Zfp143 T A 7: 109,671,681 (GRCm39) probably null Het
Zfp709 G T 8: 72,643,933 (GRCm39) C454F probably damaging Het
Other mutations in Sec16b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Sec16b APN 1 157,365,900 (GRCm39) missense probably damaging 1.00
IGL00645:Sec16b APN 1 157,394,289 (GRCm39) missense probably damaging 1.00
IGL00763:Sec16b APN 1 157,356,827 (GRCm39) missense probably benign 0.00
IGL00822:Sec16b APN 1 157,392,125 (GRCm39) missense probably benign 0.05
IGL02225:Sec16b APN 1 157,359,614 (GRCm39) unclassified probably benign
IGL02746:Sec16b APN 1 157,373,859 (GRCm39) splice site probably benign
IGL03031:Sec16b APN 1 157,388,369 (GRCm39) missense probably benign
IGL03117:Sec16b APN 1 157,362,970 (GRCm39) missense probably damaging 1.00
IGL03193:Sec16b APN 1 157,362,963 (GRCm39) missense probably benign 0.01
R0206:Sec16b UTSW 1 157,380,505 (GRCm39) nonsense probably null
R0208:Sec16b UTSW 1 157,380,505 (GRCm39) nonsense probably null
R0349:Sec16b UTSW 1 157,359,746 (GRCm39) splice site probably null
R0433:Sec16b UTSW 1 157,362,279 (GRCm39) nonsense probably null
R0537:Sec16b UTSW 1 157,365,116 (GRCm39) missense possibly damaging 0.91
R0593:Sec16b UTSW 1 157,359,718 (GRCm39) missense probably benign 0.03
R0629:Sec16b UTSW 1 157,392,433 (GRCm39) unclassified probably benign
R1028:Sec16b UTSW 1 157,388,487 (GRCm39) missense probably benign 0.03
R1119:Sec16b UTSW 1 157,392,404 (GRCm39) missense possibly damaging 0.93
R1835:Sec16b UTSW 1 157,358,882 (GRCm39) missense probably benign 0.00
R1894:Sec16b UTSW 1 157,380,545 (GRCm39) missense possibly damaging 0.90
R2307:Sec16b UTSW 1 157,363,062 (GRCm39) missense probably damaging 1.00
R3438:Sec16b UTSW 1 157,384,328 (GRCm39) splice site probably benign
R4788:Sec16b UTSW 1 157,389,094 (GRCm39) missense possibly damaging 0.77
R5109:Sec16b UTSW 1 157,392,361 (GRCm39) nonsense probably null
R5235:Sec16b UTSW 1 157,362,334 (GRCm39) missense probably benign 0.00
R5942:Sec16b UTSW 1 157,358,920 (GRCm39) missense probably damaging 1.00
R6034:Sec16b UTSW 1 157,380,509 (GRCm39) missense probably damaging 1.00
R6034:Sec16b UTSW 1 157,380,509 (GRCm39) missense probably damaging 1.00
R6081:Sec16b UTSW 1 157,388,324 (GRCm39) missense probably benign
R7026:Sec16b UTSW 1 157,362,281 (GRCm39) missense possibly damaging 0.80
R7192:Sec16b UTSW 1 157,357,013 (GRCm39) missense probably benign 0.00
R7270:Sec16b UTSW 1 157,392,033 (GRCm39) missense probably damaging 1.00
R7270:Sec16b UTSW 1 157,392,032 (GRCm39) missense probably damaging 1.00
R7404:Sec16b UTSW 1 157,358,927 (GRCm39) missense probably damaging 1.00
R7494:Sec16b UTSW 1 157,388,369 (GRCm39) missense probably benign
R7570:Sec16b UTSW 1 157,358,965 (GRCm39) splice site probably null
R7747:Sec16b UTSW 1 157,393,042 (GRCm39) missense possibly damaging 0.69
R7751:Sec16b UTSW 1 157,385,630 (GRCm39) missense probably damaging 1.00
R7797:Sec16b UTSW 1 157,389,245 (GRCm39) missense unknown
R7913:Sec16b UTSW 1 157,356,899 (GRCm39) missense probably benign 0.00
R8176:Sec16b UTSW 1 157,362,981 (GRCm39) missense probably damaging 1.00
R8891:Sec16b UTSW 1 157,382,409 (GRCm39) missense probably damaging 1.00
R9080:Sec16b UTSW 1 157,393,300 (GRCm39) missense probably benign 0.09
R9263:Sec16b UTSW 1 157,359,748 (GRCm39) unclassified probably benign
R9290:Sec16b UTSW 1 157,373,816 (GRCm39) missense probably damaging 1.00
R9388:Sec16b UTSW 1 157,388,393 (GRCm39) missense probably benign 0.01
R9430:Sec16b UTSW 1 157,394,894 (GRCm39) missense probably damaging 1.00
R9522:Sec16b UTSW 1 157,392,335 (GRCm39) missense probably damaging 1.00
R9706:Sec16b UTSW 1 157,378,695 (GRCm39) critical splice donor site probably null
Z1088:Sec16b UTSW 1 157,385,594 (GRCm39) splice site probably null
Z1176:Sec16b UTSW 1 157,378,639 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTTCTAGAAGTGCTGGCAC -3'
(R):5'- ATGCAGGAGATGACTTGGCC -3'

Sequencing Primer
(F):5'- GGCACTCTCACTTATTGCCCAAAC -3'
(R):5'- TGGTACCAGGTGCCAAAC -3'
Posted On 2020-09-15