Incidental Mutation 'R1119:Sec16b'
ID |
97673 |
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 |
039192-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1119 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 157392404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 924
(D924G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027881]
[ENSMUST00000086130]
[ENSMUST00000111700]
[ENSMUST00000146873]
|
AlphaFold |
Q91XT4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027881
AA Change: D924G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000027881 Gene: ENSMUSG00000026589 AA Change: D924G
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 |
possibly damaging
Transcript: ENSMUST00000086130
AA Change: D924G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083300 Gene: ENSMUSG00000026589 AA Change: D924G
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 |
possibly damaging
Transcript: ENSMUST00000111700
AA Change: D924G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107329 Gene: ENSMUSG00000026589 AA Change: D924G
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 |
|
Meta Mutation Damage Score |
0.0952 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
100% (51/51) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
Cul2 |
A |
G |
18: 3,419,335 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
probably damaging |
Het |
Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
Larp1b |
C |
A |
3: 40,987,963 (GRCm39) |
R62S |
possibly damaging |
Het |
Lgr5 |
A |
T |
10: 115,296,716 (GRCm39) |
|
probably null |
Het |
Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
Nxpe5 |
G |
A |
5: 138,237,658 (GRCm39) |
D61N |
probably benign |
Het |
Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Tax1bp1 |
C |
A |
6: 52,718,933 (GRCm39) |
|
probably benign |
Het |
Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
Het |
Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTCAAACAGCAGTGCAGTCC -3'
(R):5'- CATGCGTCCCGGTATCCACAATAG -3'
Sequencing Primer
(F):5'- AGTGCAGTCCAAAGCCCTG -3'
(R):5'- tcctcctgcctcagcatc -3'
|
Posted On |
2014-01-05 |