Incidental Mutation 'R0537:Sec16b'
| ID |
49479 |
| 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 |
038729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0537 (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 157365116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 335
(T335A)
|
| 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: T335A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: T335A
| 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: T335A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: T335A
| 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: T335A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: T335A
| 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: ENSMUST00000146873
AA Change: T146A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119359
Gene: ENSMUSG00000026589
AA Change: T146A
| 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
|
| Meta Mutation Damage Score |
0.0670 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (53/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
T |
14: 35,818,657 (GRCm39) |
K218N |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,619,652 (GRCm39) |
E156G |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,094,224 (GRCm39) |
N973K |
probably damaging |
Het |
| B4galt3 |
T |
C |
1: 171,101,821 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
T |
C |
14: 34,165,769 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
T |
17: 85,702,087 (GRCm39) |
I184F |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,737 (GRCm39) |
Y163C |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,014,701 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
T |
1: 160,888,318 (GRCm39) |
C201S |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,312,767 (GRCm39) |
S194R |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,148,941 (GRCm39) |
D1473G |
probably benign |
Het |
| Dpm2 |
T |
A |
2: 32,462,961 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,591,628 (GRCm39) |
S456P |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,089,425 (GRCm39) |
S195P |
probably damaging |
Het |
| Heatr6 |
G |
T |
11: 83,670,290 (GRCm39) |
E948* |
probably null |
Het |
| Itgal |
G |
A |
7: 126,910,445 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,103 (GRCm39) |
T172S |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,840,604 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,975,562 (GRCm39) |
F121S |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,622,817 (GRCm39) |
R1966W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,256 (GRCm39) |
F247L |
possibly damaging |
Het |
| Nebl |
G |
T |
2: 17,409,026 (GRCm39) |
D392E |
possibly damaging |
Het |
| Notch2 |
C |
A |
3: 98,024,057 (GRCm39) |
N840K |
possibly damaging |
Het |
| Nubp1 |
T |
C |
16: 10,240,678 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,577,017 (GRCm39) |
Q159L |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,444 (GRCm39) |
S167P |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,897 (GRCm39) |
S455T |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,184,516 (GRCm39) |
E828G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rala |
A |
T |
13: 18,063,233 (GRCm39) |
N119K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,975,362 (GRCm39) |
V1149E |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,715,501 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rps18-ps6 |
A |
T |
13: 97,897,071 (GRCm39) |
F9Y |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,431,752 (GRCm39) |
D635E |
probably damaging |
Het |
| Slc11a2 |
C |
T |
15: 100,303,679 (GRCm39) |
G185R |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,967 (GRCm39) |
R274H |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,032,618 (GRCm39) |
V2276A |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Tmem168 |
C |
A |
6: 13,603,360 (GRCm39) |
C2F |
probably damaging |
Het |
| Tmem80 |
A |
G |
7: 140,913,609 (GRCm39) |
Y13C |
probably damaging |
Het |
| Try4 |
T |
A |
6: 41,281,296 (GRCm39) |
N79K |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,225,318 (GRCm39) |
N798K |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,813 (GRCm39) |
|
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,160 (GRCm39) |
E138V |
probably damaging |
Het |
| Zfp366 |
A |
C |
13: 99,365,786 (GRCm39) |
T316P |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,883,621 (GRCm39) |
H162R |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGATCTTGCGATTCCAGACTTCC -3'
(R):5'- TGGCACACCAGTGTTAGAACCG -3'
Sequencing Primer
(F):5'- GCGATTCCAGACTTCCAGTCC -3'
(R):5'- GTGTTAGAACCGGAGCTACACTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation