Incidental Mutation 'R7494:Sec16b'
ID |
580969 |
Institutional Source |
Beutler Lab
|
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 # |
R7494 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 157388369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 579
(S579P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027881]
[ENSMUST00000086130]
[ENSMUST00000111700]
[ENSMUST00000146873]
|
AlphaFold |
Q91XT4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027881
AA Change: S768P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027881 Gene: ENSMUSG00000026589 AA Change: S768P
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: S768P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083300 Gene: ENSMUSG00000026589 AA Change: S768P
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: S768P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107329 Gene: ENSMUSG00000026589 AA Change: S768P
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
AA Change: S579P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119359 Gene: ENSMUSG00000026589 AA Change: S579P
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
G |
A |
11: 110,099,571 (GRCm39) |
T992I |
possibly damaging |
Het |
Adamts10 |
T |
A |
17: 33,768,352 (GRCm39) |
C841* |
probably null |
Het |
AI661453 |
C |
T |
17: 47,779,105 (GRCm39) |
P944S |
unknown |
Het |
Als2 |
G |
A |
1: 59,222,325 (GRCm39) |
|
probably null |
Het |
Anapc2 |
A |
G |
2: 25,166,376 (GRCm39) |
E381G |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,824,756 (GRCm39) |
Y1142H |
|
Het |
Apip |
A |
T |
2: 102,922,896 (GRCm39) |
N238I |
probably benign |
Het |
Cblc |
A |
T |
7: 19,526,737 (GRCm39) |
V165D |
possibly damaging |
Het |
Cep295nl |
T |
A |
11: 118,224,758 (GRCm39) |
M29L |
probably benign |
Het |
Clec12a |
A |
G |
6: 129,330,362 (GRCm39) |
I47V |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,507,619 (GRCm39) |
Y350C |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,773,554 (GRCm39) |
G56R |
probably damaging |
Het |
Epsti1 |
G |
T |
14: 78,166,194 (GRCm39) |
E82D |
probably benign |
Het |
Eri2 |
C |
A |
7: 119,385,304 (GRCm39) |
C399F |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,298,361 (GRCm39) |
T672A |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,138,388 (GRCm39) |
C445S |
possibly damaging |
Het |
Folh1 |
G |
T |
7: 86,368,907 (GRCm39) |
T740K |
probably damaging |
Het |
Gapt |
A |
G |
13: 110,490,262 (GRCm39) |
Y134H |
probably damaging |
Het |
Gm19410 |
T |
C |
8: 36,262,684 (GRCm39) |
S874P |
probably damaging |
Het |
Gm2431 |
G |
A |
7: 141,811,547 (GRCm39) |
P119L |
unknown |
Het |
Gzmc |
G |
A |
14: 56,469,785 (GRCm39) |
Q172* |
probably null |
Het |
Hoxa1 |
C |
A |
6: 52,134,571 (GRCm39) |
V211F |
probably damaging |
Het |
Hyou1 |
G |
T |
9: 44,300,706 (GRCm39) |
R925L |
probably benign |
Het |
Ift70a1 |
A |
C |
2: 75,810,242 (GRCm39) |
F614V |
probably damaging |
Het |
Ilvbl |
A |
G |
10: 78,414,857 (GRCm39) |
Y240C |
possibly damaging |
Het |
Lama1 |
T |
A |
17: 68,118,441 (GRCm39) |
F2551Y |
|
Het |
Lrrtm3 |
A |
G |
10: 63,924,958 (GRCm39) |
Y70H |
probably damaging |
Het |
Naa38 |
T |
A |
11: 69,287,126 (GRCm39) |
C69S |
probably damaging |
Het |
Or12e7 |
T |
A |
2: 87,287,912 (GRCm39) |
N134K |
probably damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,038 (GRCm39) |
S123P |
probably damaging |
Het |
Or8k25 |
A |
T |
2: 86,243,592 (GRCm39) |
I268N |
probably benign |
Het |
Panx3 |
A |
G |
9: 37,572,608 (GRCm39) |
L314P |
probably damaging |
Het |
Polr2f |
T |
C |
15: 79,028,865 (GRCm39) |
|
probably null |
Het |
Prkcd |
C |
A |
14: 30,331,150 (GRCm39) |
R75L |
probably benign |
Het |
Psap |
A |
C |
10: 60,135,275 (GRCm39) |
L313F |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,775,017 (GRCm39) |
C263S |
probably benign |
Het |
Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
Pura |
T |
A |
18: 36,420,942 (GRCm39) |
M243K |
probably damaging |
Het |
Septin1 |
T |
A |
7: 126,814,122 (GRCm39) |
E338V |
probably damaging |
Het |
Sgms1 |
A |
G |
19: 32,107,091 (GRCm39) |
F255L |
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,637,862 (GRCm39) |
T353A |
possibly damaging |
Het |
Smg6 |
T |
C |
11: 74,820,449 (GRCm39) |
V240A |
probably benign |
Het |
Sntg2 |
T |
G |
12: 30,279,633 (GRCm39) |
D340A |
possibly damaging |
Het |
Sun1 |
C |
T |
5: 139,221,475 (GRCm39) |
P553S |
probably benign |
Het |
Tas2r140 |
T |
C |
6: 40,468,254 (GRCm39) |
V28A |
probably damaging |
Het |
Tfcp2l1 |
T |
C |
1: 118,592,686 (GRCm39) |
F323S |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,666,284 (GRCm39) |
Y269H |
possibly damaging |
Het |
Tpcn2 |
G |
A |
7: 144,832,586 (GRCm39) |
T90I |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,720,321 (GRCm39) |
Y6968* |
probably null |
Het |
Vmn2r44 |
A |
T |
7: 8,386,122 (GRCm39) |
L39* |
probably null |
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 |
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 |
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'- TAATGGAAGCCACGTGTAACAGC -3'
(R):5'- CACCAAAGGCAGGATGTGTC -3'
Sequencing Primer
(F):5'- TTGCTTTCTAGAGAAGACAAGAGC -3'
(R):5'- GGATGTGTCCGCAGCATATC -3'
|
Posted On |
2019-10-17 |