Incidental Mutation 'R7913:Sec16b'
| ID |
610640 |
| 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 |
045961-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7913 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 157356899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 36
(Y36H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027881]
[ENSMUST00000086130]
[ENSMUST00000111700]
[ENSMUST00000146873]
|
| AlphaFold |
Q91XT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027881
AA Change: Y36H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: Y36H
| 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: Y36H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: Y36H
| 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: Y36H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: Y36H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (65/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
A |
G |
10: 90,896,133 (GRCm39) |
V324A |
probably damaging |
Het |
| Aqp8 |
T |
A |
7: 123,063,495 (GRCm39) |
I115N |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,812,131 (GRCm39) |
C692Y |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,665,303 (GRCm39) |
S717T |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,947,941 (GRCm39) |
S408G |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,137,621 (GRCm39) |
G895* |
probably null |
Het |
| Cs |
A |
T |
10: 128,186,310 (GRCm39) |
K34N |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,408,435 (GRCm39) |
E1799G |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,187,192 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,859 (GRCm39) |
Y696* |
probably null |
Het |
| Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
| Fgd2 |
G |
T |
17: 29,593,019 (GRCm39) |
R423L |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,621,741 (GRCm39) |
D490G |
possibly damaging |
Het |
| Gm5113 |
A |
T |
7: 29,877,648 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,291,654 (GRCm39) |
W854R |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,981,129 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,842 (GRCm39) |
M694K |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,645 (GRCm39) |
T79A |
possibly damaging |
Het |
| Hspa4 |
A |
C |
11: 53,153,134 (GRCm39) |
V761G |
probably benign |
Het |
| Ifi203 |
T |
C |
1: 173,754,523 (GRCm39) |
Y736C |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 120,675,524 (GRCm39) |
L308Q |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,220,785 (GRCm39) |
D230G |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,959,522 (GRCm39) |
C319* |
probably null |
Het |
| Ncs1 |
C |
A |
2: 31,177,296 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
A |
7: 49,929,270 (GRCm39) |
H392Q |
possibly damaging |
Het |
| Nlrp1b |
C |
A |
11: 71,108,537 (GRCm39) |
E321D |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,779,725 (GRCm39) |
H796L |
probably benign |
Het |
| Nudt16l1 |
C |
A |
16: 4,757,245 (GRCm39) |
Q53K |
possibly damaging |
Het |
| Nyap1 |
A |
G |
5: 137,733,231 (GRCm39) |
S601P |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 144,859,244 (GRCm39) |
Q634* |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,982,999 (GRCm39) |
E28D |
probably benign |
Het |
| Or12e14 |
A |
G |
2: 87,677,037 (GRCm39) |
I141V |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,224 (GRCm39) |
V142A |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,571 (GRCm39) |
V288E |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,718,074 (GRCm39) |
L310H |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 133,017,799 (GRCm39) |
|
probably null |
Het |
| Pramel21 |
T |
A |
4: 143,341,615 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Prl3c1 |
A |
G |
13: 27,383,393 (GRCm39) |
I40V |
probably benign |
Het |
| R3hdm4 |
C |
T |
10: 79,747,779 (GRCm39) |
A229T |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,995,013 (GRCm39) |
S851P |
possibly damaging |
Het |
| Ralgapb |
A |
T |
2: 158,307,859 (GRCm39) |
I1056F |
probably damaging |
Het |
| Setd3 |
A |
T |
12: 108,073,924 (GRCm39) |
V451D |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,506 (GRCm39) |
K334R |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,788,315 (GRCm39) |
N184K |
possibly damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,109 (GRCm39) |
D105G |
probably benign |
Het |
| Taar7e |
T |
A |
10: 23,913,902 (GRCm39) |
C131S |
possibly damaging |
Het |
| Tead4 |
A |
G |
6: 128,220,331 (GRCm39) |
|
probably null |
Het |
| Tescl |
C |
A |
7: 24,033,076 (GRCm39) |
R83L |
probably damaging |
Het |
| Ufd1 |
G |
T |
16: 18,633,616 (GRCm39) |
V14F |
probably benign |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,477 (GRCm39) |
Y92N |
probably benign |
Het |
| Vmn2r52 |
C |
A |
7: 9,896,877 (GRCm39) |
V532L |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,801,036 (GRCm39) |
T300I |
possibly damaging |
Het |
| Wt1 |
T |
G |
2: 104,997,205 (GRCm39) |
S381A |
probably damaging |
Het |
| Zbtb44 |
C |
T |
9: 30,965,504 (GRCm39) |
Q305* |
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 |
|
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 |
|
|
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'- CCAGAATGATGACTGGTTTTCC -3'
(R):5'- TTCACTGTAACCCTAAGCATCATAC -3'
Sequencing Primer
(F):5'- CAGAATGATGACTGGTTTTCCTTCTG -3'
(R):5'- GCATCATACCTTGAGTACAGGTGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation