Incidental Mutation 'R7494:Sec16b'
ID 580969
Institutional Source Beutler Lab
Gene Symbol Sec16b
Ensembl Gene ENSMUSG00000026589
Gene Name SEC16 homolog B, endoplasmic reticulum export factor
Synonyms Lztr2, Rgpr, Rgpr-p117
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 157334303-157395995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157388369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 579 (S579P)
Ref Sequence ENSEMBL: ENSMUSP00000119359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027881] [ENSMUST00000086130] [ENSMUST00000111700] [ENSMUST00000146873]
AlphaFold Q91XT4
Predicted Effect probably benign
Transcript: ENSMUST00000027881
AA Change: S768P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: S768P

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: S768P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: S768P

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: S768P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: S768P

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: S579P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119359
Gene: ENSMUSG00000026589
AA Change: S579P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G A 11: 110,099,571 (GRCm39) T992I possibly damaging Het
Adamts10 T A 17: 33,768,352 (GRCm39) C841* probably null Het
AI661453 C T 17: 47,779,105 (GRCm39) P944S unknown Het
Als2 G A 1: 59,222,325 (GRCm39) probably null Het
Anapc2 A G 2: 25,166,376 (GRCm39) E381G possibly damaging Het
Ank3 T C 10: 69,824,756 (GRCm39) Y1142H Het
Apip A T 2: 102,922,896 (GRCm39) N238I probably benign Het
Cblc A T 7: 19,526,737 (GRCm39) V165D possibly damaging Het
Cep295nl T A 11: 118,224,758 (GRCm39) M29L probably benign Het
Clec12a A G 6: 129,330,362 (GRCm39) I47V possibly damaging Het
Dpp9 T C 17: 56,507,619 (GRCm39) Y350C probably damaging Het
Enpp2 C T 15: 54,773,554 (GRCm39) G56R probably damaging Het
Epsti1 G T 14: 78,166,194 (GRCm39) E82D probably benign Het
Eri2 C A 7: 119,385,304 (GRCm39) C399F probably damaging Het
Ern1 T C 11: 106,298,361 (GRCm39) T672A probably damaging Het
Fbxo21 T A 5: 118,138,388 (GRCm39) C445S possibly damaging Het
Folh1 G T 7: 86,368,907 (GRCm39) T740K probably damaging Het
Gapt A G 13: 110,490,262 (GRCm39) Y134H probably damaging Het
Gm19410 T C 8: 36,262,684 (GRCm39) S874P probably damaging Het
Gm2431 G A 7: 141,811,547 (GRCm39) P119L unknown Het
Gzmc G A 14: 56,469,785 (GRCm39) Q172* probably null Het
Hoxa1 C A 6: 52,134,571 (GRCm39) V211F probably damaging Het
Hyou1 G T 9: 44,300,706 (GRCm39) R925L probably benign Het
Ift70a1 A C 2: 75,810,242 (GRCm39) F614V probably damaging Het
Ilvbl A G 10: 78,414,857 (GRCm39) Y240C possibly damaging Het
Lama1 T A 17: 68,118,441 (GRCm39) F2551Y Het
Lrrtm3 A G 10: 63,924,958 (GRCm39) Y70H probably damaging Het
Naa38 T A 11: 69,287,126 (GRCm39) C69S probably damaging Het
Or12e7 T A 2: 87,287,912 (GRCm39) N134K probably damaging Het
Or2t46 T C 11: 58,472,038 (GRCm39) S123P probably damaging Het
Or8k25 A T 2: 86,243,592 (GRCm39) I268N probably benign Het
Panx3 A G 9: 37,572,608 (GRCm39) L314P probably damaging Het
Polr2f T C 15: 79,028,865 (GRCm39) probably null Het
Prkcd C A 14: 30,331,150 (GRCm39) R75L probably benign Het
Psap A C 10: 60,135,275 (GRCm39) L313F probably benign Het
Psen1 T A 12: 83,775,017 (GRCm39) C263S probably benign Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Pura T A 18: 36,420,942 (GRCm39) M243K probably damaging Het
Septin1 T A 7: 126,814,122 (GRCm39) E338V probably damaging Het
Sgms1 A G 19: 32,107,091 (GRCm39) F255L probably benign Het
Slc4a2 A G 5: 24,637,862 (GRCm39) T353A possibly damaging Het
Smg6 T C 11: 74,820,449 (GRCm39) V240A probably benign Het
Sntg2 T G 12: 30,279,633 (GRCm39) D340A possibly damaging Het
Sun1 C T 5: 139,221,475 (GRCm39) P553S probably benign Het
Tas2r140 T C 6: 40,468,254 (GRCm39) V28A probably damaging Het
Tfcp2l1 T C 1: 118,592,686 (GRCm39) F323S probably damaging Het
Thoc2l T C 5: 104,666,284 (GRCm39) Y269H possibly damaging Het
Tpcn2 G A 7: 144,832,586 (GRCm39) T90I possibly damaging Het
Ttn A T 2: 76,720,321 (GRCm39) Y6968* probably null Het
Vmn2r44 A T 7: 8,386,122 (GRCm39) L39* probably null 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
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
R7943:Sec16b UTSW 1 157,382,327 (GRCm39) missense probably benign
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'- TAATGGAAGCCACGTGTAACAGC -3'
(R):5'- CACCAAAGGCAGGATGTGTC -3'

Sequencing Primer
(F):5'- TTGCTTTCTAGAGAAGACAAGAGC -3'
(R):5'- GGATGTGTCCGCAGCATATC -3'
Posted On 2019-10-17