Incidental Mutation 'R2307:Sec16b'
| ID |
244614 |
| 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 |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 157363062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 298
(V298I)
|
| 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: V298I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: V298I
| 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: V298I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: V298I
| 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: V298I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: V298I
| 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: V109I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119359
Gene: ENSMUSG00000026589
AA Change: V109I
| 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 |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
| Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
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 |
|
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'- ACCTAGCATCTCATCCTGGC -3'
(R):5'- TTTAGAGAAAAGCCCACCCATTCTTG -3'
Sequencing Primer
(F):5'- CCTGGCCCAGGTAGAATGG -3'
(R):5'- CTTGCTCACAATCTAAGGCACATGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation