Incidental Mutation 'IGL02131:Anxa8'
ID |
281205 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Anxa8
|
Ensembl Gene |
ENSMUSG00000021950 |
Gene Name |
annexin A8 |
Synonyms |
Anx8 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02131
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
33807938-33822528 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33812588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 46
(D46V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022519
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022519]
[ENSMUST00000120077]
[ENSMUST00000178958]
|
AlphaFold |
O35640 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022519
AA Change: D46V
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022519 Gene: ENSMUSG00000021950 AA Change: D46V
Domain | Start | End | E-Value | Type |
ANX
|
38 |
90 |
6.69e-25 |
SMART |
ANX
|
110 |
162 |
5.57e-22 |
SMART |
ANX
|
195 |
247 |
1.12e-17 |
SMART |
ANX
|
270 |
322 |
9.26e-19 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120077
AA Change: D46V
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113662 Gene: ENSMUSG00000021950 AA Change: D46V
Domain | Start | End | E-Value | Type |
ANX
|
38 |
90 |
6.69e-25 |
SMART |
ANX
|
110 |
162 |
5.57e-22 |
SMART |
ANX
|
165 |
221 |
4.14e-1 |
SMART |
ANX
|
244 |
296 |
9.26e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215823
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a floxed allele activated in all cells exhibit impaired leukocyte rolling flux and adhesion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,029,148 (GRCm39) |
D30G |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,352,020 (GRCm39) |
|
probably null |
Het |
Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
Or10a49 |
T |
C |
7: 108,467,415 (GRCm39) |
*315W |
probably null |
Het |
Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
Recql5 |
C |
A |
11: 115,814,068 (GRCm39) |
W86L |
probably benign |
Het |
Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
Sema4d |
T |
C |
13: 51,856,973 (GRCm39) |
|
probably null |
Het |
Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
Slc26a2 |
A |
C |
18: 61,331,884 (GRCm39) |
F516V |
possibly damaging |
Het |
Tcf4 |
A |
G |
18: 69,697,697 (GRCm39) |
|
probably benign |
Het |
Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably damaging |
Het |
|
Other mutations in Anxa8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01300:Anxa8
|
APN |
14 |
33,821,700 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01335:Anxa8
|
APN |
14 |
33,811,547 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02675:Anxa8
|
APN |
14 |
33,815,371 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02887:Anxa8
|
APN |
14 |
33,818,481 (GRCm39) |
splice site |
probably null |
|
R0095:Anxa8
|
UTSW |
14 |
33,808,028 (GRCm39) |
missense |
probably benign |
0.19 |
R0095:Anxa8
|
UTSW |
14 |
33,808,028 (GRCm39) |
missense |
probably benign |
0.19 |
R0138:Anxa8
|
UTSW |
14 |
33,819,897 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0138:Anxa8
|
UTSW |
14 |
33,819,896 (GRCm39) |
missense |
probably benign |
0.01 |
R0452:Anxa8
|
UTSW |
14 |
33,816,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R1586:Anxa8
|
UTSW |
14 |
33,815,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Anxa8
|
UTSW |
14 |
33,811,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Anxa8
|
UTSW |
14 |
33,818,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Anxa8
|
UTSW |
14 |
33,813,873 (GRCm39) |
critical splice donor site |
probably null |
|
R3921:Anxa8
|
UTSW |
14 |
33,816,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Anxa8
|
UTSW |
14 |
33,814,579 (GRCm39) |
critical splice donor site |
probably null |
|
R5372:Anxa8
|
UTSW |
14 |
33,815,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Anxa8
|
UTSW |
14 |
33,819,850 (GRCm39) |
missense |
probably damaging |
0.98 |
R6823:Anxa8
|
UTSW |
14 |
33,816,722 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6837:Anxa8
|
UTSW |
14 |
33,814,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R8079:Anxa8
|
UTSW |
14 |
33,816,769 (GRCm39) |
missense |
probably benign |
0.00 |
R8405:Anxa8
|
UTSW |
14 |
33,819,881 (GRCm39) |
missense |
probably damaging |
0.96 |
R9301:Anxa8
|
UTSW |
14 |
33,819,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Anxa8
|
UTSW |
14 |
33,814,509 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Posted On |
2015-04-16 |