Incidental Mutation 'IGL03117:Sec16b'
ID |
419471 |
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 # |
IGL03117
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 157362970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 267
(F267S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027881]
[ENSMUST00000086130]
[ENSMUST00000111700]
[ENSMUST00000146873]
|
AlphaFold |
Q91XT4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027881
AA Change: F267S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027881 Gene: ENSMUSG00000026589 AA Change: F267S
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 damaging
Transcript: ENSMUST00000086130
AA Change: F267S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083300 Gene: ENSMUSG00000026589 AA Change: F267S
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 damaging
Transcript: ENSMUST00000111700
AA Change: F267S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107329 Gene: ENSMUSG00000026589 AA Change: F267S
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 damaging
Transcript: ENSMUST00000146873
AA Change: F78S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119359 Gene: ENSMUSG00000026589 AA Change: F78S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155665
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
Ccdc187 |
A |
G |
2: 26,177,980 (GRCm39) |
S270P |
possibly damaging |
Het |
Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
Clk1 |
A |
G |
1: 58,456,166 (GRCm39) |
|
probably null |
Het |
Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
Dsel |
A |
T |
1: 111,786,908 (GRCm39) |
|
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,473,886 (GRCm39) |
L231P |
probably damaging |
Het |
Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
Phf12 |
A |
T |
11: 77,913,846 (GRCm39) |
|
probably benign |
Het |
Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
Slc44a5 |
T |
A |
3: 153,956,714 (GRCm39) |
M322K |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,257,323 (GRCm39) |
Y395* |
probably null |
Het |
Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
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 |
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 |
|
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 |
2016-08-02 |