Incidental Mutation 'IGL01300:Anxa8'
| ID |
75227 |
| 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 # |
IGL01300
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
33807938-33822528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33821700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 300
(D300G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022519]
[ENSMUST00000120077]
[ENSMUST00000178958]
|
| AlphaFold |
O35640 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022519
AA Change: D326G
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: D326G
| 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 |
probably benign
Transcript: ENSMUST00000120077
AA Change: D300G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950
AA Change: D300G
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1g |
T |
C |
11: 94,324,738 (GRCm39) |
H1161R |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,331,372 (GRCm39) |
R1471Q |
unknown |
Het |
| Gm14496 |
A |
T |
2: 181,642,753 (GRCm39) |
E808V |
probably damaging |
Het |
| Gm1968 |
T |
C |
16: 29,781,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmb |
G |
A |
14: 56,497,653 (GRCm39) |
R196C |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,231,040 (GRCm39) |
|
probably benign |
Het |
| Itgal |
T |
A |
7: 126,913,290 (GRCm39) |
V629E |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,083 (GRCm39) |
Y1050N |
probably damaging |
Het |
| Lrrc69 |
C |
T |
4: 14,773,663 (GRCm39) |
|
probably benign |
Het |
| Mmd |
T |
C |
11: 90,140,537 (GRCm39) |
M1T |
probably null |
Het |
| Myh6 |
A |
G |
14: 55,200,548 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,667,755 (GRCm39) |
N485S |
probably damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,714 (GRCm39) |
T214M |
probably damaging |
Het |
| Ncoa3 |
A |
T |
2: 165,910,381 (GRCm39) |
T1265S |
probably benign |
Het |
| Or10al2 |
C |
A |
17: 37,983,778 (GRCm39) |
T288K |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,054 (GRCm39) |
S89P |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,327 (GRCm39) |
C138R |
possibly damaging |
Het |
| Prom2 |
A |
T |
2: 127,377,009 (GRCm39) |
L535H |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,734,174 (GRCm39) |
F327L |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,977,809 (GRCm39) |
M1479T |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,318,397 (GRCm39) |
Q1465* |
probably null |
Het |
| Serpinb3b |
A |
G |
1: 107,083,573 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,099,253 (GRCm39) |
Q339* |
probably null |
Het |
| Slc34a2 |
A |
C |
5: 53,225,469 (GRCm39) |
|
probably null |
Het |
| Smc3 |
T |
A |
19: 53,630,283 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
A |
G |
9: 79,682,382 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
T |
8: 47,954,903 (GRCm39) |
D878E |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,741,628 (GRCm39) |
T1325M |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,359,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,337 (GRCm39) |
I20N |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,414 (GRCm39) |
Y311H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,740,263 (GRCm39) |
F189I |
possibly damaging |
Het |
|
| Other mutations in Anxa8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Anxa8
|
APN |
14 |
33,811,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02131:Anxa8
|
APN |
14 |
33,812,588 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
2013-10-07 |
Incidental Mutation