Incidental Mutation 'R4983:Sec16a'
| ID |
385684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec16a
|
| Ensembl Gene |
ENSMUSG00000026924 |
| Gene Name |
SEC16 homolog A, endoplasmic reticulum export factor |
| Synonyms |
C230052J16Rik |
| MMRRC Submission |
042577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R4983 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26299443-26335228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26329531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 828
(V828A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091252]
[ENSMUST00000114082]
|
| AlphaFold |
E9QAT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091252
AA Change: V828A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
AA Change: V828A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1195 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1392 |
N/A |
INTRINSIC |
|
Pfam:Sec16
|
1463 |
1565 |
3.1e-24 |
PFAM |
|
low complexity region
|
1600 |
1614 |
N/A |
INTRINSIC |
|
Pfam:Sec16_C
|
1635 |
1898 |
2.3e-39 |
PFAM |
|
low complexity region
|
2109 |
2124 |
N/A |
INTRINSIC |
|
low complexity region
|
2165 |
2177 |
N/A |
INTRINSIC |
|
low complexity region
|
2187 |
2197 |
N/A |
INTRINSIC |
|
low complexity region
|
2227 |
2242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114082
AA Change: V828A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
AA Change: V828A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1195 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1392 |
N/A |
INTRINSIC |
|
Pfam:Sec16
|
1464 |
1564 |
2.6e-10 |
PFAM |
|
low complexity region
|
1600 |
1614 |
N/A |
INTRINSIC |
|
Pfam:Sec16_C
|
1636 |
1887 |
6.8e-45 |
PFAM |
|
low complexity region
|
2109 |
2124 |
N/A |
INTRINSIC |
|
low complexity region
|
2165 |
2177 |
N/A |
INTRINSIC |
|
low complexity region
|
2187 |
2197 |
N/A |
INTRINSIC |
|
low complexity region
|
2227 |
2242 |
N/A |
INTRINSIC |
|
low complexity region
|
2310 |
2320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153996
AA Change: V79A
|
| SMART Domains |
Protein: ENSMUSP00000121179
Gene: ENSMUSG00000026924
AA Change: V79A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155252
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (103/106) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
T |
G |
19: 42,041,515 (GRCm39) |
S215R |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,627,867 (GRCm39) |
M388V |
probably benign |
Het |
| Acbd6 |
A |
C |
1: 155,477,275 (GRCm39) |
T154P |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,347,447 (GRCm39) |
D434G |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,819,652 (GRCm39) |
M89K |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,833,868 (GRCm39) |
H866Q |
probably damaging |
Het |
| Armh3 |
T |
C |
19: 45,939,146 (GRCm39) |
T335A |
probably benign |
Het |
| Capn12 |
A |
T |
7: 28,589,795 (GRCm39) |
H622L |
probably benign |
Het |
| Capns2 |
T |
G |
8: 93,628,530 (GRCm39) |
F140V |
probably damaging |
Het |
| Catsper1 |
T |
G |
19: 5,385,991 (GRCm39) |
F75V |
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,729,297 (GRCm39) |
N16S |
probably benign |
Het |
| Cdkn2aip |
A |
T |
8: 48,165,964 (GRCm39) |
L114Q |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,940,689 (GRCm39) |
S649R |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,635,602 (GRCm39) |
R515W |
probably damaging |
Het |
| Chrnb1 |
A |
G |
11: 69,684,804 (GRCm39) |
F123S |
probably damaging |
Het |
| Copz2 |
A |
T |
11: 96,748,377 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
| Daw1 |
C |
A |
1: 83,165,719 (GRCm39) |
A178E |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epb41l5 |
T |
C |
1: 119,482,801 (GRCm39) |
D629G |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,838,829 (GRCm39) |
E925G |
probably benign |
Het |
| Exoc7 |
A |
C |
11: 116,180,095 (GRCm39) |
F657V |
probably damaging |
Het |
| Fam210b |
G |
C |
2: 172,187,585 (GRCm39) |
A2P |
probably damaging |
Homo |
| Fry |
A |
G |
5: 150,321,719 (GRCm39) |
E1018G |
probably damaging |
Het |
| Galc |
A |
T |
12: 98,209,027 (GRCm39) |
L15* |
probably null |
Het |
| Gm11232 |
T |
A |
4: 71,675,138 (GRCm39) |
K121N |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,831,045 (GRCm39) |
D931E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,871,830 (GRCm39) |
H1372R |
probably benign |
Het |
| Ighv3-2 |
T |
A |
12: 113,997,606 (GRCm39) |
|
noncoding transcript |
Het |
| Kcns2 |
T |
G |
15: 34,839,751 (GRCm39) |
S371R |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,843,985 (GRCm39) |
K175E |
probably benign |
Het |
| Kmt2c |
G |
A |
5: 25,500,509 (GRCm39) |
R436W |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,835,242 (GRCm39) |
S1317P |
probably benign |
Het |
| Lce1e |
T |
C |
3: 92,615,135 (GRCm39) |
S71G |
unknown |
Het |
| Lrrc37a |
T |
A |
11: 103,388,444 (GRCm39) |
E2327V |
unknown |
Het |
| Map3k20 |
A |
G |
2: 72,232,411 (GRCm39) |
M356V |
probably benign |
Het |
| Med12l |
C |
T |
3: 59,169,350 (GRCm39) |
A1580V |
probably damaging |
Het |
| Metap2 |
G |
T |
10: 93,725,462 (GRCm39) |
T30K |
possibly damaging |
Het |
| Mysm1 |
T |
A |
4: 94,861,207 (GRCm39) |
T53S |
probably benign |
Het |
| Nasp |
A |
T |
4: 116,459,382 (GRCm39) |
D717E |
probably damaging |
Het |
| Ndnf |
G |
A |
6: 65,680,555 (GRCm39) |
R278H |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,106,273 (GRCm39) |
N4205K |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,380,082 (GRCm39) |
I764N |
possibly damaging |
Het |
| Nucb1 |
A |
G |
7: 45,148,313 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or14c39 |
A |
C |
7: 86,343,687 (GRCm39) |
T8P |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,623 (GRCm39) |
I9T |
probably benign |
Het |
| Or5l14 |
G |
T |
2: 87,793,042 (GRCm39) |
H65N |
probably benign |
Het |
| Oscp1 |
T |
A |
4: 125,970,555 (GRCm39) |
C115S |
probably benign |
Het |
| Paip2 |
C |
T |
18: 35,746,412 (GRCm39) |
R59C |
possibly damaging |
Het |
| Pate10 |
T |
G |
9: 35,653,465 (GRCm39) |
F90V |
probably benign |
Het |
| Pcdhga4 |
G |
A |
18: 37,819,572 (GRCm39) |
D374N |
probably damaging |
Het |
| Pcolce |
G |
T |
5: 137,603,936 (GRCm39) |
|
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,832,468 (GRCm39) |
E193G |
probably damaging |
Het |
| Pde6b |
A |
T |
5: 108,573,196 (GRCm39) |
Q522L |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phf11a |
A |
G |
14: 59,521,887 (GRCm39) |
F95L |
probably benign |
Het |
| Pja2 |
A |
C |
17: 64,616,053 (GRCm39) |
S281A |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,361,687 (GRCm39) |
F272S |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,167,984 (GRCm39) |
S752P |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,906,582 (GRCm39) |
T1238A |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,976,995 (GRCm39) |
Y569C |
probably damaging |
Het |
| Prss37 |
G |
A |
6: 40,493,070 (GRCm39) |
T132I |
probably benign |
Het |
| Psmf1 |
A |
T |
2: 151,571,377 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
A |
C |
2: 90,290,876 (GRCm39) |
I528S |
probably damaging |
Het |
| Reg1 |
A |
G |
6: 78,405,196 (GRCm39) |
T140A |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,657,217 (GRCm39) |
N457S |
probably benign |
Het |
| Rusf1 |
C |
T |
7: 127,875,645 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,396,614 (GRCm39) |
K93R |
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,423,873 (GRCm39) |
D507E |
probably benign |
Het |
| Sirt4 |
A |
T |
5: 115,620,850 (GRCm39) |
F107L |
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,193,616 (GRCm39) |
L862Q |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,208,176 (GRCm39) |
S229P |
probably benign |
Het |
| Slc37a3 |
A |
T |
6: 39,329,651 (GRCm39) |
C185* |
probably null |
Het |
| Slc5a2 |
A |
T |
7: 127,870,982 (GRCm39) |
*154C |
probably null |
Het |
| Snx17 |
A |
G |
5: 31,353,138 (GRCm39) |
S42G |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,983,113 (GRCm39) |
V234A |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,927,207 (GRCm39) |
M94T |
probably benign |
Het |
| Thtpa |
A |
G |
14: 55,309,605 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,340,952 (GRCm39) |
E343G |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,008,027 (GRCm39) |
I238V |
probably benign |
Het |
| Tmprss11f |
T |
C |
5: 86,685,858 (GRCm39) |
S170G |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,499,283 (GRCm39) |
D865E |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,809,785 (GRCm39) |
E337G |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,697,790 (GRCm39) |
|
probably benign |
Het |
| Tubgcp6 |
T |
C |
15: 88,990,494 (GRCm39) |
E710G |
probably damaging |
Het |
| Txndc2 |
T |
A |
17: 65,945,055 (GRCm39) |
H374L |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,713,891 (GRCm39) |
|
probably null |
Het |
| Vmn2r23 |
G |
A |
6: 123,710,308 (GRCm39) |
C537Y |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,116 (GRCm39) |
F391L |
probably damaging |
Het |
| Vstm4 |
A |
T |
14: 32,641,202 (GRCm39) |
T262S |
probably benign |
Het |
| Zfp180 |
C |
T |
7: 23,805,503 (GRCm39) |
R641C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,371 (GRCm39) |
S113T |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
Het |
| Zswim5 |
T |
A |
4: 116,842,883 (GRCm39) |
M876K |
possibly damaging |
Het |
|
| Other mutations in Sec16a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Sec16a
|
APN |
2 |
26,329,499 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00435:Sec16a
|
APN |
2 |
26,320,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00469:Sec16a
|
APN |
2 |
26,318,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Sec16a
|
APN |
2 |
26,328,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01623:Sec16a
|
APN |
2 |
26,328,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02158:Sec16a
|
APN |
2 |
26,306,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02188:Sec16a
|
APN |
2 |
26,326,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Sec16a
|
APN |
2 |
26,312,052 (GRCm39) |
missense |
probably benign |
|
|
IGL02568:Sec16a
|
APN |
2 |
26,326,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Sec16a
|
APN |
2 |
26,320,142 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02735:Sec16a
|
APN |
2 |
26,318,149 (GRCm39) |
splice site |
probably benign |
|
|
IGL02964:Sec16a
|
APN |
2 |
26,309,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03027:Sec16a
|
APN |
2 |
26,313,601 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03073:Sec16a
|
APN |
2 |
26,329,195 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03297:Sec16a
|
APN |
2 |
26,329,202 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03339:Sec16a
|
APN |
2 |
26,325,945 (GRCm39) |
missense |
probably benign |
|
|
H8562:Sec16a
|
UTSW |
2 |
26,331,517 (GRCm39) |
missense |
probably benign |
|
|
IGL03050:Sec16a
|
UTSW |
2 |
26,305,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Sec16a
|
UTSW |
2 |
26,315,785 (GRCm39) |
missense |
|
|
|
R0039:Sec16a
|
UTSW |
2 |
26,313,926 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0095:Sec16a
|
UTSW |
2 |
26,315,772 (GRCm39) |
splice site |
probably null |
|
|
R0095:Sec16a
|
UTSW |
2 |
26,315,772 (GRCm39) |
splice site |
probably null |
|
|
R0189:Sec16a
|
UTSW |
2 |
26,314,426 (GRCm39) |
splice site |
probably null |
|
|
R0255:Sec16a
|
UTSW |
2 |
26,321,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0278:Sec16a
|
UTSW |
2 |
26,318,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Sec16a
|
UTSW |
2 |
26,331,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0743:Sec16a
|
UTSW |
2 |
26,309,734 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1446:Sec16a
|
UTSW |
2 |
26,313,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Sec16a
|
UTSW |
2 |
26,321,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Sec16a
|
UTSW |
2 |
26,321,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1501:Sec16a
|
UTSW |
2 |
26,330,057 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1524:Sec16a
|
UTSW |
2 |
26,318,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Sec16a
|
UTSW |
2 |
26,321,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1649:Sec16a
|
UTSW |
2 |
26,315,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Sec16a
|
UTSW |
2 |
26,329,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Sec16a
|
UTSW |
2 |
26,320,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1973:Sec16a
|
UTSW |
2 |
26,316,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Sec16a
|
UTSW |
2 |
26,329,092 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2073:Sec16a
|
UTSW |
2 |
26,330,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Sec16a
|
UTSW |
2 |
26,330,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Sec16a
|
UTSW |
2 |
26,330,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Sec16a
|
UTSW |
2 |
26,303,757 (GRCm39) |
intron |
probably benign |
|
|
R2472:Sec16a
|
UTSW |
2 |
26,329,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Sec16a
|
UTSW |
2 |
26,329,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2520:Sec16a
|
UTSW |
2 |
26,331,368 (GRCm39) |
nonsense |
probably null |
|
|
R2571:Sec16a
|
UTSW |
2 |
26,329,343 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3105:Sec16a
|
UTSW |
2 |
26,328,433 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3508:Sec16a
|
UTSW |
2 |
26,315,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Sec16a
|
UTSW |
2 |
26,331,825 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3912:Sec16a
|
UTSW |
2 |
26,304,399 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4292:Sec16a
|
UTSW |
2 |
26,312,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4293:Sec16a
|
UTSW |
2 |
26,312,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4294:Sec16a
|
UTSW |
2 |
26,312,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4576:Sec16a
|
UTSW |
2 |
26,321,131 (GRCm39) |
nonsense |
probably null |
|
|
R4611:Sec16a
|
UTSW |
2 |
26,331,817 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4627:Sec16a
|
UTSW |
2 |
26,321,080 (GRCm39) |
splice site |
probably null |
|
|
R4627:Sec16a
|
UTSW |
2 |
26,319,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4662:Sec16a
|
UTSW |
2 |
26,320,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4665:Sec16a
|
UTSW |
2 |
26,302,970 (GRCm39) |
intron |
probably benign |
|
|
R4906:Sec16a
|
UTSW |
2 |
26,331,979 (GRCm39) |
unclassified |
probably benign |
|
|
R4967:Sec16a
|
UTSW |
2 |
26,302,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5033:Sec16a
|
UTSW |
2 |
26,309,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5251:Sec16a
|
UTSW |
2 |
26,329,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5391:Sec16a
|
UTSW |
2 |
26,330,044 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5457:Sec16a
|
UTSW |
2 |
26,330,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5530:Sec16a
|
UTSW |
2 |
26,329,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5645:Sec16a
|
UTSW |
2 |
26,329,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5661:Sec16a
|
UTSW |
2 |
26,329,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5770:Sec16a
|
UTSW |
2 |
26,304,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5830:Sec16a
|
UTSW |
2 |
26,330,853 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5866:Sec16a
|
UTSW |
2 |
26,309,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5875:Sec16a
|
UTSW |
2 |
26,323,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Sec16a
|
UTSW |
2 |
26,328,843 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5922:Sec16a
|
UTSW |
2 |
26,305,651 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6076:Sec16a
|
UTSW |
2 |
26,313,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Sec16a
|
UTSW |
2 |
26,316,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Sec16a
|
UTSW |
2 |
26,318,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Sec16a
|
UTSW |
2 |
26,315,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Sec16a
|
UTSW |
2 |
26,328,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6459:Sec16a
|
UTSW |
2 |
26,313,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6520:Sec16a
|
UTSW |
2 |
26,316,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Sec16a
|
UTSW |
2 |
26,329,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6657:Sec16a
|
UTSW |
2 |
26,315,876 (GRCm39) |
nonsense |
probably null |
|
|
R6750:Sec16a
|
UTSW |
2 |
26,330,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6852:Sec16a
|
UTSW |
2 |
26,331,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6860:Sec16a
|
UTSW |
2 |
26,320,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Sec16a
|
UTSW |
2 |
26,320,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Sec16a
|
UTSW |
2 |
26,320,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Sec16a
|
UTSW |
2 |
26,320,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Sec16a
|
UTSW |
2 |
26,320,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6993:Sec16a
|
UTSW |
2 |
26,313,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7009:Sec16a
|
UTSW |
2 |
26,326,014 (GRCm39) |
nonsense |
probably null |
|
|
R7057:Sec16a
|
UTSW |
2 |
26,315,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Sec16a
|
UTSW |
2 |
26,330,715 (GRCm39) |
nonsense |
probably null |
|
|
R7227:Sec16a
|
UTSW |
2 |
26,328,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7234:Sec16a
|
UTSW |
2 |
26,329,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Sec16a
|
UTSW |
2 |
26,331,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7326:Sec16a
|
UTSW |
2 |
26,329,729 (GRCm39) |
missense |
unknown |
|
|
R7371:Sec16a
|
UTSW |
2 |
26,331,734 (GRCm39) |
missense |
probably benign |
|
|
R7388:Sec16a
|
UTSW |
2 |
26,318,376 (GRCm39) |
missense |
|
|
|
R7414:Sec16a
|
UTSW |
2 |
26,313,643 (GRCm39) |
missense |
|
|
|
R7417:Sec16a
|
UTSW |
2 |
26,311,409 (GRCm39) |
missense |
|
|
|
R7501:Sec16a
|
UTSW |
2 |
26,331,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7558:Sec16a
|
UTSW |
2 |
26,329,746 (GRCm39) |
missense |
|
|
|
R7696:Sec16a
|
UTSW |
2 |
26,305,645 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7981:Sec16a
|
UTSW |
2 |
26,311,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8117:Sec16a
|
UTSW |
2 |
26,331,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8131:Sec16a
|
UTSW |
2 |
26,300,958 (GRCm39) |
missense |
|
|
|
R8163:Sec16a
|
UTSW |
2 |
26,306,433 (GRCm39) |
missense |
|
|
|
R8825:Sec16a
|
UTSW |
2 |
26,313,586 (GRCm39) |
missense |
|
|
|
R8855:Sec16a
|
UTSW |
2 |
26,329,852 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9165:Sec16a
|
UTSW |
2 |
26,313,645 (GRCm39) |
missense |
|
|
|
R9216:Sec16a
|
UTSW |
2 |
26,304,401 (GRCm39) |
missense |
|
|
|
R9283:Sec16a
|
UTSW |
2 |
26,313,904 (GRCm39) |
missense |
|
|
|
R9506:Sec16a
|
UTSW |
2 |
26,319,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9581:Sec16a
|
UTSW |
2 |
26,328,647 (GRCm39) |
missense |
|
|
|
R9772:Sec16a
|
UTSW |
2 |
26,329,417 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0011:Sec16a
|
UTSW |
2 |
26,305,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0034:Sec16a
|
UTSW |
2 |
26,306,709 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0062:Sec16a
|
UTSW |
2 |
26,306,709 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1088:Sec16a
|
UTSW |
2 |
26,329,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Sec16a
|
UTSW |
2 |
26,328,760 (GRCm39) |
missense |
|
|
|
Z1177:Sec16a
|
UTSW |
2 |
26,329,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTCCCCAGGACTGATTC -3'
(R):5'- TGGGCACAAAATGAGCTGC -3'
Sequencing Primer
(F):5'- CCAGGACTGATTCTTCTCATTAGG -3'
(R):5'- GCACAAAATGAGCTGCCAGATTTTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation