Incidental Mutation 'R7026:Sec16b'
ID |
545942 |
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 |
045127-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7026 (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 157362281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 44
(M44T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027881]
[ENSMUST00000086130]
[ENSMUST00000111700]
[ENSMUST00000146873]
|
AlphaFold |
Q91XT4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027881
AA Change: M233T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027881 Gene: ENSMUSG00000026589 AA Change: M233T
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: M233T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083300 Gene: ENSMUSG00000026589 AA Change: M233T
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: M233T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107329 Gene: ENSMUSG00000026589 AA Change: M233T
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: M44T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000119359 Gene: ENSMUSG00000026589 AA Change: M44T
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (69/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,805,392 (GRCm39) |
M749L |
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,818,974 (GRCm39) |
N1321S |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,191,450 (GRCm39) |
V506E |
probably damaging |
Het |
Add2 |
G |
A |
6: 86,063,965 (GRCm39) |
R88Q |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,118,083 (GRCm39) |
V1155A |
probably benign |
Het |
Ahsg |
T |
A |
16: 22,710,963 (GRCm39) |
D33E |
probably damaging |
Het |
Alox12b |
A |
T |
11: 69,048,131 (GRCm39) |
D20V |
possibly damaging |
Het |
Alppl2 |
A |
G |
1: 87,017,420 (GRCm39) |
|
probably null |
Het |
Ankfn1 |
A |
G |
11: 89,530,403 (GRCm39) |
*49Q |
probably null |
Het |
Bcl11b |
T |
C |
12: 107,882,851 (GRCm39) |
D488G |
probably damaging |
Het |
Bcl2l10 |
T |
A |
9: 75,258,364 (GRCm39) |
F175L |
probably benign |
Het |
C2cd3 |
T |
A |
7: 100,081,299 (GRCm39) |
D127E |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,614,732 (GRCm39) |
V1311I |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,316,427 (GRCm39) |
I374K |
probably benign |
Het |
Cfap36 |
T |
C |
11: 29,172,565 (GRCm39) |
T267A |
probably benign |
Het |
Cibar2 |
G |
A |
8: 120,895,324 (GRCm39) |
H193Y |
probably damaging |
Het |
Cog1 |
T |
C |
11: 113,540,415 (GRCm39) |
L10P |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,543,448 (GRCm39) |
M2241L |
probably benign |
Het |
Dock10 |
G |
T |
1: 80,479,504 (GRCm39) |
A1809E |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,967,156 (GRCm39) |
D255E |
probably benign |
Het |
Exph5 |
T |
C |
9: 53,251,728 (GRCm39) |
F123L |
probably benign |
Het |
Fbxw27 |
C |
A |
9: 109,617,146 (GRCm39) |
K118N |
possibly damaging |
Het |
Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
Get4 |
C |
T |
5: 139,238,358 (GRCm39) |
R47W |
possibly damaging |
Het |
Gm3676 |
G |
A |
14: 41,366,072 (GRCm39) |
S81F |
probably benign |
Het |
Gulp1 |
C |
T |
1: 44,820,245 (GRCm39) |
P251S |
possibly damaging |
Het |
Hhatl |
T |
C |
9: 121,617,339 (GRCm39) |
D298G |
probably benign |
Het |
Hsf2bp |
T |
A |
17: 32,252,254 (GRCm39) |
K60N |
possibly damaging |
Het |
Ints4 |
T |
A |
7: 97,168,361 (GRCm39) |
V625D |
possibly damaging |
Het |
Iqch |
T |
A |
9: 63,432,421 (GRCm39) |
K286* |
probably null |
Het |
Irak1bp1 |
T |
A |
9: 82,712,084 (GRCm39) |
S2T |
possibly damaging |
Het |
Kdm3b |
G |
A |
18: 34,955,517 (GRCm39) |
V1135I |
possibly damaging |
Het |
Lama3 |
C |
A |
18: 12,649,605 (GRCm39) |
N181K |
probably damaging |
Het |
Lrfn2 |
T |
G |
17: 49,404,005 (GRCm39) |
S709R |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,743,566 (GRCm39) |
H123R |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,159,234 (GRCm39) |
S1569P |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,352,131 (GRCm39) |
Q635P |
probably damaging |
Het |
Mboat2 |
T |
C |
12: 24,998,381 (GRCm39) |
|
probably null |
Het |
Mctp1 |
A |
G |
13: 76,954,378 (GRCm39) |
T596A |
probably benign |
Het |
Mroh9 |
T |
A |
1: 162,888,251 (GRCm39) |
M275L |
probably benign |
Het |
Ms4a10 |
A |
C |
19: 10,944,869 (GRCm39) |
|
probably null |
Het |
Myo9a |
C |
T |
9: 59,722,617 (GRCm39) |
R560C |
probably damaging |
Het |
Or11h4b |
A |
G |
14: 50,918,716 (GRCm39) |
I125T |
probably damaging |
Het |
Or5b107 |
A |
G |
19: 13,142,779 (GRCm39) |
T134A |
probably benign |
Het |
Or6z1 |
T |
A |
7: 6,504,820 (GRCm39) |
H135L |
probably damaging |
Het |
Ormdl3 |
A |
G |
11: 98,474,808 (GRCm39) |
V45A |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,858,049 (GRCm39) |
Y894H |
probably benign |
Het |
Pigo |
G |
A |
4: 43,023,380 (GRCm39) |
Q259* |
probably null |
Het |
Prrc2a |
G |
A |
17: 35,380,803 (GRCm39) |
P70S |
unknown |
Het |
Rab3ip |
A |
G |
10: 116,773,441 (GRCm39) |
I124T |
probably benign |
Het |
Rap1b |
A |
G |
10: 117,654,384 (GRCm39) |
I21T |
probably benign |
Het |
Rasgrf2 |
T |
A |
13: 92,131,732 (GRCm39) |
S642C |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,535,539 (GRCm39) |
E106G |
probably benign |
Het |
Reps1 |
C |
A |
10: 17,983,437 (GRCm39) |
R427S |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,370,481 (GRCm39) |
H4760P |
possibly damaging |
Het |
Rtl1 |
A |
G |
12: 109,559,595 (GRCm39) |
I748T |
probably damaging |
Het |
Sco1 |
A |
T |
11: 66,944,683 (GRCm39) |
K102M |
probably damaging |
Het |
Slc7a10 |
T |
C |
7: 34,898,139 (GRCm39) |
M297T |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,656,662 (GRCm39) |
H1935R |
probably benign |
Het |
Sowaha |
G |
A |
11: 53,370,050 (GRCm39) |
R229W |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,379,608 (GRCm39) |
M83L |
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,968,192 (GRCm39) |
V431A |
probably benign |
Het |
Tmem98 |
A |
G |
11: 80,712,214 (GRCm39) |
E217G |
possibly damaging |
Het |
Trim13 |
T |
A |
14: 61,842,562 (GRCm39) |
L193* |
probably null |
Het |
Trp53bp2 |
T |
C |
1: 182,270,300 (GRCm39) |
S367P |
probably benign |
Het |
Tsc2 |
T |
G |
17: 24,845,713 (GRCm39) |
I202L |
probably damaging |
Het |
Twf2 |
T |
A |
9: 106,092,079 (GRCm39) |
V312E |
probably damaging |
Het |
Usp34 |
G |
T |
11: 23,311,622 (GRCm39) |
L471F |
probably damaging |
Het |
Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
probably damaging |
Het |
Zfp1010 |
T |
A |
2: 176,957,361 (GRCm39) |
I46F |
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 |
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 |
|
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'- TTCTCATGAATCCACAGTCGCTG -3'
(R):5'- CCAGCAAGGCAAATGTAGAC -3'
Sequencing Primer
(F):5'- ACAGTCGCTGTGCTTAGTAGGAAG -3'
(R):5'- GGCAAATGTAGACCCATTCCTGG -3'
|
Posted On |
2019-05-13 |