Incidental Mutation 'R9706:Sec16b'
| ID |
729780 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
157334303-157395995 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 157378695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027881]
[ENSMUST00000086130]
[ENSMUST00000111700]
[ENSMUST00000146873]
|
| AlphaFold |
Q91XT4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027881
|
| SMART Domains |
Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
| 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
|
| SMART Domains |
Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,834,929 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
T |
C |
1: 87,713,977 (GRCm39) |
F463L |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,658,689 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cldn10 |
T |
A |
14: 119,099,189 (GRCm39) |
M101K |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,520 (GRCm39) |
L209* |
probably null |
Het |
| Crocc |
C |
A |
4: 140,746,046 (GRCm39) |
R1855L |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,302,869 (GRCm39) |
M169K |
probably benign |
Het |
| Defb22 |
T |
C |
2: 152,327,820 (GRCm39) |
T122A |
unknown |
Het |
| Dnaaf6rt |
A |
C |
1: 31,262,252 (GRCm39) |
E78A |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,026 (GRCm39) |
I238N |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,625,901 (GRCm39) |
S457T |
possibly damaging |
Het |
| Ephb3 |
A |
T |
16: 21,039,193 (GRCm39) |
I604F |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,249 (GRCm39) |
D120G |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,735,474 (GRCm39) |
T267S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,161 (GRCm39) |
Q471L |
probably damaging |
Het |
| H2-Q4 |
A |
T |
17: 35,599,129 (GRCm39) |
Y133F |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,325,735 (GRCm39) |
H285Q |
probably benign |
Het |
| Hc |
A |
C |
2: 34,914,196 (GRCm39) |
V837G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,305,279 (GRCm39) |
V3151I |
probably benign |
Het |
| Inpp5e |
T |
A |
2: 26,292,126 (GRCm39) |
M311L |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,449,960 (GRCm39) |
F644S |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo3 |
A |
T |
10: 80,670,288 (GRCm39) |
F547L |
probably damaging |
Het |
| Lrrc47 |
T |
G |
4: 154,096,487 (GRCm39) |
L94R |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,881,902 (GRCm39) |
F155S |
|
Het |
| Masp2 |
A |
G |
4: 148,696,597 (GRCm39) |
E398G |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,312,352 (GRCm39) |
S477L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,655 (GRCm39) |
V256A |
possibly damaging |
Het |
| Muc1 |
T |
A |
3: 89,138,888 (GRCm39) |
I499K |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,811,648 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
T |
7: 139,999,266 (GRCm39) |
I140N |
probably damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,779 (GRCm39) |
M197L |
probably benign |
Het |
| Or52e18 |
A |
G |
7: 104,609,195 (GRCm39) |
V248A |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,658 (GRCm39) |
H159L |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,905,683 (GRCm39) |
H4971L |
unknown |
Het |
| Pcsk1 |
G |
T |
13: 75,247,473 (GRCm39) |
|
probably null |
Het |
| Pik3r5 |
C |
A |
11: 68,381,426 (GRCm39) |
T204N |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,107,300 (GRCm39) |
V1621A |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,814,806 (GRCm39) |
*902W |
probably null |
Het |
| R3hdm2 |
A |
G |
10: 127,334,298 (GRCm39) |
D907G |
probably benign |
Het |
| R3hdm4 |
A |
T |
10: 79,752,655 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
C |
T |
9: 65,558,285 (GRCm39) |
A107V |
probably benign |
Het |
| Rgs14 |
G |
A |
13: 55,531,934 (GRCm39) |
E544K |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,445,822 (GRCm39) |
Q2623* |
probably null |
Het |
| Spire1 |
C |
T |
18: 67,636,508 (GRCm39) |
R386Q |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,201,625 (GRCm39) |
Y492F |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,677,104 (GRCm39) |
T427I |
probably benign |
Het |
| Tbx5 |
C |
A |
5: 119,979,909 (GRCm39) |
L152I |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,925 (GRCm39) |
M237T |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,510,000 (GRCm39) |
F526I |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
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 |
|
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 |
|
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'- TAACTACACCCTGGTTTGTGG -3'
(R):5'- AGGTACCTTTCCCTGGGGTTTC -3'
Sequencing Primer
(F):5'- ACTACACCCTGGTTTGTGGTAAATG -3'
(R):5'- GTTTCTTAACCAGGAGGCTAACAGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation