Incidental Mutation 'IGL00822:Sec16b'
ID |
13947 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL00822
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 157392125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 886
(A886S)
|
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: A886S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000027881 Gene: ENSMUSG00000026589 AA Change: A886S
Domain | Start | End | E-Value | Type |
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: A886S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000083300 Gene: ENSMUSG00000026589 AA Change: A886S
Domain | Start | End | E-Value | Type |
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: A886S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107329 Gene: ENSMUSG00000026589 AA Change: A886S
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
C |
8: 60,988,792 (GRCm39) |
S332P |
probably benign |
Het |
Abcb4 |
T |
C |
5: 9,000,046 (GRCm39) |
F1005L |
probably benign |
Het |
Actr2 |
G |
A |
11: 20,044,367 (GRCm39) |
R80W |
probably damaging |
Het |
Adck1 |
T |
C |
12: 88,422,286 (GRCm39) |
I299T |
probably damaging |
Het |
Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
Car15 |
A |
T |
16: 17,654,498 (GRCm39) |
M146K |
probably damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,689,806 (GRCm39) |
N84S |
probably benign |
Het |
Dock8 |
G |
T |
19: 25,165,773 (GRCm39) |
E1886* |
probably null |
Het |
Kansl2 |
T |
C |
15: 98,426,734 (GRCm39) |
|
probably benign |
Het |
Klc2 |
A |
T |
19: 5,161,541 (GRCm39) |
V323E |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,891,111 (GRCm39) |
V352A |
probably damaging |
Het |
Lrrc8c |
G |
T |
5: 105,756,174 (GRCm39) |
A650S |
probably benign |
Het |
Ltbp1 |
A |
G |
17: 75,458,316 (GRCm39) |
Y299C |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,252,154 (GRCm39) |
T1421A |
probably damaging |
Het |
Myl3 |
C |
A |
9: 110,595,557 (GRCm39) |
T56K |
possibly damaging |
Het |
Nod1 |
T |
C |
6: 54,921,931 (GRCm39) |
Y129C |
probably damaging |
Het |
Odad2 |
A |
T |
18: 7,181,817 (GRCm39) |
L836M |
probably damaging |
Het |
Otog |
G |
A |
7: 45,945,304 (GRCm39) |
S2187N |
probably benign |
Het |
Pank4 |
G |
A |
4: 155,065,059 (GRCm39) |
R786H |
possibly damaging |
Het |
Sag |
A |
G |
1: 87,772,748 (GRCm39) |
|
probably null |
Het |
Scn2b |
G |
A |
9: 45,036,842 (GRCm39) |
V117M |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Spns3 |
A |
T |
11: 72,390,179 (GRCm39) |
|
probably null |
Het |
Styk1 |
T |
C |
6: 131,278,625 (GRCm39) |
K350E |
possibly damaging |
Het |
Tns3 |
G |
A |
11: 8,393,976 (GRCm39) |
T1291I |
probably damaging |
Het |
Xntrpc |
A |
G |
7: 101,733,575 (GRCm39) |
I175V |
probably damaging |
Het |
Zfp106 |
G |
A |
2: 120,344,641 (GRCm39) |
R1745C |
probably damaging |
Het |
|
Other mutations in Sec16b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2012-12-06 |