Incidental Mutation 'R7943:Sec16b'
ID |
649134 |
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 |
045989-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7943 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 157382327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 588
(M588L)
|
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: M588L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027881 Gene: ENSMUSG00000026589 AA Change: M588L
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: M588L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083300 Gene: ENSMUSG00000026589 AA Change: M588L
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: M588L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107329 Gene: ENSMUSG00000026589 AA Change: M588L
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: M399L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119359 Gene: ENSMUSG00000026589 AA Change: M399L
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (68/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
C |
T |
5: 8,736,222 (GRCm39) |
T205I |
probably benign |
Het |
Acsbg1 |
T |
C |
9: 54,530,021 (GRCm39) |
H225R |
probably damaging |
Het |
Anks1 |
T |
A |
17: 28,204,178 (GRCm39) |
Y209N |
probably damaging |
Het |
Appl1 |
T |
A |
14: 26,667,525 (GRCm39) |
I377L |
probably benign |
Het |
Arl9 |
A |
T |
5: 77,158,395 (GRCm39) |
D159V |
probably damaging |
Het |
Arsa |
A |
C |
15: 89,358,292 (GRCm39) |
L339R |
probably damaging |
Het |
C2 |
A |
G |
17: 35,091,354 (GRCm39) |
L380P |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,628,196 (GRCm39) |
C97R |
unknown |
Het |
Ccdc74a |
A |
G |
16: 17,468,416 (GRCm39) |
H346R |
probably benign |
Het |
Ccnl1 |
T |
C |
3: 65,864,326 (GRCm39) |
I152V |
probably benign |
Het |
Cd4 |
C |
T |
6: 124,847,207 (GRCm39) |
|
probably null |
Het |
Ceacam5 |
A |
T |
7: 17,479,491 (GRCm39) |
I203L |
probably benign |
Het |
Ckap2 |
C |
A |
8: 22,665,090 (GRCm39) |
R458L |
probably damaging |
Het |
Cldn10 |
T |
C |
14: 119,099,271 (GRCm39) |
|
probably null |
Het |
Col27a1 |
C |
T |
4: 63,236,520 (GRCm39) |
R1377C |
unknown |
Het |
Cry1 |
A |
T |
10: 84,978,984 (GRCm39) |
M514K |
probably benign |
Het |
Crybg2 |
T |
G |
4: 133,800,295 (GRCm39) |
V176G |
probably damaging |
Het |
Cyp2j5 |
C |
T |
4: 96,547,849 (GRCm39) |
G131D |
possibly damaging |
Het |
Ddx46 |
A |
G |
13: 55,817,535 (GRCm39) |
Y720C |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,626,006 (GRCm39) |
V44D |
probably damaging |
Het |
Eif1ad8 |
C |
T |
12: 87,563,773 (GRCm39) |
A36V |
probably damaging |
Het |
Enam |
A |
T |
5: 88,636,410 (GRCm39) |
|
probably null |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Fam184a |
C |
T |
10: 53,523,137 (GRCm39) |
A956T |
probably damaging |
Het |
Fbxw10 |
A |
T |
11: 62,741,487 (GRCm39) |
R202* |
probably null |
Het |
Fnip1 |
A |
G |
11: 54,393,214 (GRCm39) |
E550G |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,438,132 (GRCm39) |
L675P |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,989,554 (GRCm39) |
Y2002H |
probably benign |
Het |
Hp |
A |
G |
8: 110,302,187 (GRCm39) |
Y254H |
probably damaging |
Het |
Ighg1 |
G |
T |
12: 113,293,957 (GRCm39) |
T62N |
|
Het |
Jcad |
A |
G |
18: 4,672,700 (GRCm39) |
E154G |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,760,437 (GRCm39) |
S471P |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,169,352 (GRCm39) |
V1968A |
probably damaging |
Het |
Mknk2 |
T |
A |
10: 80,511,701 (GRCm39) |
Q3L |
probably benign |
Het |
Nup98 |
G |
A |
7: 101,844,029 (GRCm39) |
T65I |
probably benign |
Het |
Or10p21 |
T |
A |
10: 128,847,934 (GRCm39) |
M260K |
possibly damaging |
Het |
Or51f1e |
G |
A |
7: 102,747,153 (GRCm39) |
M68I |
probably damaging |
Het |
Or5m11 |
A |
G |
2: 85,782,342 (GRCm39) |
T312A |
probably benign |
Het |
Or9i14 |
A |
T |
19: 13,792,600 (GRCm39) |
M118K |
probably damaging |
Het |
Pcdhgb4 |
C |
T |
18: 37,855,063 (GRCm39) |
T486I |
probably benign |
Het |
Perm1 |
T |
A |
4: 156,302,991 (GRCm39) |
F512I |
probably damaging |
Het |
Pgap3 |
A |
T |
11: 98,281,227 (GRCm39) |
L262Q |
probably damaging |
Het |
Pklr |
A |
C |
3: 89,048,814 (GRCm39) |
Y126S |
probably damaging |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,501,813 (GRCm39) |
T117A |
probably benign |
Het |
Prkd2 |
G |
A |
7: 16,584,244 (GRCm39) |
E366K |
probably benign |
Het |
Psd |
C |
A |
19: 46,313,169 (GRCm39) |
C67F |
possibly damaging |
Het |
Ptpra |
T |
A |
2: 30,322,056 (GRCm39) |
F100L |
probably damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,112,357 (GRCm39) |
E466G |
probably damaging |
Het |
Serpina1f |
T |
A |
12: 103,659,949 (GRCm39) |
H111L |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,116,537 (GRCm39) |
I76T |
possibly damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,812 (GRCm39) |
L369Q |
possibly damaging |
Het |
Spef2 |
A |
G |
15: 9,601,171 (GRCm39) |
M1697T |
unknown |
Het |
St7 |
G |
A |
6: 17,844,911 (GRCm39) |
C133Y |
probably damaging |
Het |
Tdpoz6 |
A |
T |
3: 93,600,070 (GRCm39) |
C100S |
probably benign |
Het |
Tex19.1 |
T |
A |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
Tfrc |
T |
A |
16: 32,449,039 (GRCm39) |
I726N |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,950,098 (GRCm39) |
|
probably null |
Het |
Trim43a |
C |
T |
9: 88,464,238 (GRCm39) |
P50S |
probably benign |
Het |
Trpm4 |
A |
T |
7: 44,958,105 (GRCm39) |
V935E |
probably damaging |
Het |
Ttc12 |
A |
T |
9: 49,381,620 (GRCm39) |
V117D |
possibly damaging |
Het |
Ulbp1 |
T |
C |
10: 7,407,053 (GRCm39) |
T82A |
probably damaging |
Het |
Usp13 |
C |
T |
3: 32,931,089 (GRCm39) |
H288Y |
probably damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,232,079 (GRCm39) |
K693E |
possibly damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,932,566 (GRCm39) |
T158A |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,296,622 (GRCm39) |
K540R |
possibly damaging |
Het |
Zfp143 |
T |
A |
7: 109,671,681 (GRCm39) |
|
probably null |
Het |
Zfp709 |
G |
T |
8: 72,643,933 (GRCm39) |
C454F |
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 |
|
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 |
|
R7913:Sec16b
|
UTSW |
1 |
157,356,899 (GRCm39) |
missense |
probably benign |
0.00 |
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'- CTCTTCTAGAAGTGCTGGCAC -3'
(R):5'- ATGCAGGAGATGACTTGGCC -3'
Sequencing Primer
(F):5'- GGCACTCTCACTTATTGCCCAAAC -3'
(R):5'- TGGTACCAGGTGCCAAAC -3'
|
Posted On |
2020-09-15 |