Incidental Mutation 'R5235:Sec16b'
ID 398264
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 042807-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 157334303-157395995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157362334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 251 (I251F)
Ref Sequence ENSEMBL: ENSMUSP00000107329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027881] [ENSMUST00000086130] [ENSMUST00000111700] [ENSMUST00000146873]
AlphaFold Q91XT4
Predicted Effect probably benign
Transcript: ENSMUST00000027881
AA Change: I251F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: I251F

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: I251F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: I251F

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: I251F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: I251F

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: I62F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000119359
Gene: ENSMUSG00000026589
AA Change: I62F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155665
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V 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
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
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'- ACAAGCTCTCTGGAACTCCTTC -3'
(R):5'- GCAACCTATGATGCACATTCC -3'

Sequencing Primer
(F):5'- TCTGGAACTCCTTCCTACATAAC -3'
(R):5'- TTCCATTACTGAAGACAAGGCAG -3'
Posted On 2016-07-06