Incidental Mutation 'R0095:Anxa8'
| ID |
17956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa8
|
| Ensembl Gene |
ENSMUSG00000021950 |
| Gene Name |
annexin A8 |
| Synonyms |
Anx8 |
| MMRRC Submission |
038381-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0095 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33807938-33822528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33808028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 6
(A6T)
|
| 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: A6T
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: A6T
| 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: A6T
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950
AA Change: A6T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227780
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.1%
- 10x: 74.3%
- 20x: 56.3%
|
| Validation Efficiency |
88% (50/57) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
T |
C |
1: 9,630,402 (GRCm39) |
I317T |
possibly damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,141,774 (GRCm39) |
G21D |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,235 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Arhgef4 |
C |
T |
1: 34,771,451 (GRCm39) |
Q86* |
probably null |
Het |
| Atp4a |
T |
A |
7: 30,420,160 (GRCm39) |
I769N |
probably damaging |
Het |
| Cacnb2 |
G |
T |
2: 14,963,586 (GRCm39) |
V61F |
probably damaging |
Het |
| Clcf1 |
T |
G |
19: 4,265,842 (GRCm39) |
|
probably benign |
Het |
| Cmah |
G |
T |
13: 24,620,668 (GRCm39) |
A301S |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,952,555 (GRCm39) |
W448R |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,283,065 (GRCm39) |
D630E |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,788 (GRCm39) |
Y1434N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,748,679 (GRCm39) |
D137G |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
| Foxp2 |
C |
A |
6: 15,196,976 (GRCm39) |
A6E |
probably damaging |
Het |
| Gpr3 |
T |
A |
4: 132,938,597 (GRCm39) |
D25V |
probably benign |
Het |
| Gstm7 |
A |
T |
3: 107,837,879 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,094,073 (GRCm39) |
V332A |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
| Itk |
T |
C |
11: 46,233,279 (GRCm39) |
D266G |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,278,205 (GRCm39) |
R839H |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,550 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
| Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,049,534 (GRCm39) |
S562P |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,724,696 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,578,417 (GRCm39) |
|
probably benign |
Het |
| Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,613,314 (GRCm39) |
Y464H |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,054,714 (GRCm39) |
N299K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,417 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,320,969 (GRCm39) |
T1569A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,382,737 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,855 (GRCm39) |
Y596C |
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 |
|
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 |
|
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 |
2013-03-25 |
Incidental Mutation