Incidental Mutation 'R9522:Sec16b'
ID 718925
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9522 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 157334303-157395995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 157392335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 901 (S901L)
Ref Sequence ENSEMBL: ENSMUSP00000027881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027881] [ENSMUST00000086130] [ENSMUST00000111700] [ENSMUST00000146873]
AlphaFold Q91XT4
Predicted Effect probably damaging
Transcript: ENSMUST00000027881
AA Change: S901L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: S901L

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 damaging
Transcript: ENSMUST00000086130
AA Change: S901L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: S901L

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 damaging
Transcript: ENSMUST00000111700
AA Change: S901L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: S901L

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
SMART Domains Protein: ENSMUSP00000119359
Gene: ENSMUSG00000026589

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: 99.7%
  • 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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,847,368 (GRCm39) Y744F probably null Het
Adam17 C A 12: 21,395,693 (GRCm39) V277F probably damaging Het
Adcy8 C T 15: 64,792,560 (GRCm39) C132Y probably damaging Het
Adgrf3 G A 5: 30,404,482 (GRCm39) P318L possibly damaging Het
Ahcyl1 A T 3: 107,579,398 (GRCm39) I212N probably damaging Het
Allc A T 12: 28,620,653 (GRCm39) F33I probably damaging Het
Arhgap32 A G 9: 32,027,450 (GRCm39) T7A probably benign Het
Bbs4 A G 9: 59,260,691 (GRCm39) probably null Het
Btbd1 G T 7: 81,479,081 (GRCm39) P20H unknown Het
Cass4 A G 2: 172,269,348 (GRCm39) I477V possibly damaging Het
Cep83 A G 10: 94,586,184 (GRCm39) E362G probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cimip2c A T 5: 30,623,467 (GRCm39) S5C probably damaging Het
Cntnap5b A G 1: 100,412,347 (GRCm39) D896G probably benign Het
Crocc2 T C 1: 93,117,429 (GRCm39) V305A probably benign Het
Cse1l G A 2: 166,776,673 (GRCm39) V495I probably benign Het
Ctsj A T 13: 61,152,257 (GRCm39) Y36* probably null Het
Ctss T G 3: 95,454,109 (GRCm39) D220E probably benign Het
Ctu1 T C 7: 43,324,900 (GRCm39) L113P probably benign Het
Cyp2d40 G A 15: 82,648,274 (GRCm39) A13V possibly damaging Het
Dhrs4 A T 14: 55,716,219 (GRCm39) probably benign Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dpysl5 C A 5: 30,935,399 (GRCm39) Y167* probably null Het
E4f1 C T 17: 24,666,096 (GRCm39) G234D probably damaging Het
Eif3g G T 9: 20,809,451 (GRCm39) T27N probably benign Het
Eif3g T A 9: 20,809,452 (GRCm39) T27S probably benign Het
Fcrl2 A G 3: 87,164,101 (GRCm39) F343L possibly damaging Het
Fdft1 T C 14: 63,396,597 (GRCm39) probably null Het
Hsd3b9 T C 3: 98,353,783 (GRCm39) S239G probably benign Het
Igf2r G T 17: 12,917,215 (GRCm39) Q1562K probably benign Het
Ilf3 G A 9: 21,305,533 (GRCm39) V232I probably benign Het
Irx5 C T 8: 93,087,259 (GRCm39) T397M possibly damaging Het
Kif16b A T 2: 142,691,827 (GRCm39) V219D probably damaging Het
Klkb1 T C 8: 45,730,052 (GRCm39) I276M probably benign Het
Large2 A G 2: 92,200,266 (GRCm39) L115P probably damaging Het
Lrrc3b T C 14: 15,358,423 (GRCm38) D61G probably benign Het
Map7 A G 10: 20,105,642 (GRCm39) Y31C possibly damaging Het
Moxd2 T A 6: 40,857,375 (GRCm39) I462F probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or5b98 T A 19: 12,931,377 (GRCm39) C141* probably null Het
Or9m2 G A 2: 87,821,175 (GRCm39) C240Y probably damaging Het
Phf20l1 T C 15: 66,504,669 (GRCm39) V770A possibly damaging Het
Ppfia4 G A 1: 134,240,886 (GRCm39) A819V probably damaging Het
Qrfpr A G 3: 36,236,676 (GRCm39) W242R probably damaging Het
Rgs3 A G 4: 62,523,729 (GRCm39) I53M probably benign Het
Rif1 T C 2: 51,971,311 (GRCm39) F263S probably damaging Het
Rpl22l1 T C 3: 28,860,743 (GRCm39) probably null Het
Ryr3 T A 2: 112,560,759 (GRCm39) I3001F probably benign Het
Safb2 A G 17: 56,873,900 (GRCm39) I675T probably damaging Het
Scart2 T A 7: 139,853,987 (GRCm39) I330N possibly damaging Het
Setd5 T G 6: 113,091,995 (GRCm39) I272S probably damaging Het
Slc40a1 A T 1: 45,948,672 (GRCm39) M536K probably damaging Het
Slfn3 T C 11: 83,103,825 (GRCm39) V232A probably benign Het
Spata31d1b T C 13: 59,864,780 (GRCm39) S643P probably benign Het
Tbc1d23 T C 16: 57,019,107 (GRCm39) D251G probably benign Het
Tbccd1 T C 16: 22,641,249 (GRCm39) E376G possibly damaging Het
Tmem184a G T 5: 139,791,485 (GRCm39) P368T probably benign Het
Top1mt T C 15: 75,539,309 (GRCm39) D362G probably damaging Het
Top6bl T C 19: 4,677,274 (GRCm39) H612R probably benign Het
Ugt3a1 C A 15: 9,370,209 (GRCm39) P451H probably damaging Het
Unc80 G A 1: 66,677,221 (GRCm39) C2050Y possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r179 T C 7: 23,628,202 (GRCm39) V131A probably damaging Het
Wdr89 A G 12: 75,679,924 (GRCm39) F110S probably damaging Het
Znrf3 T C 11: 5,232,379 (GRCm39) Y282C probably damaging Het
Zscan18 T C 7: 12,503,297 (GRCm39) D754G possibly 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
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
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'- TGCTTCACAGAAAGGAAAGCTG -3'
(R):5'- AGGCCATGATAGAGCGTGAC -3'

Sequencing Primer
(F):5'- GAAGAATACAAAGGTGGAGAACTTG -3'
(R):5'- ACGCCAAGCCTGTGTTGTAAC -3'
Posted On 2022-07-18