Incidental Mutation 'R3921:Anxa8'
ID |
315750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anxa8
|
Ensembl Gene |
ENSMUSG00000021950 |
Gene Name |
annexin A8 |
Synonyms |
Anx8 |
MMRRC Submission |
040818-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3921 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
33807938-33822528 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33816403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 201
(F201L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022519
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022519]
[ENSMUST00000120077]
[ENSMUST00000178958]
|
AlphaFold |
O35640 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022519
AA Change: F201L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022519 Gene: ENSMUSG00000021950 AA Change: F201L
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
|
SMART Domains |
Protein: ENSMUSP00000113662 Gene: ENSMUSG00000021950
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
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 |
Aadacl2fm2 |
T |
A |
3: 59,659,498 (GRCm39) |
L317Q |
probably damaging |
Het |
Aebp2 |
C |
T |
6: 140,579,461 (GRCm39) |
R11C |
probably damaging |
Het |
Armh4 |
A |
G |
14: 50,011,659 (GRCm39) |
F16S |
probably benign |
Het |
Bcl7a |
A |
G |
5: 123,509,136 (GRCm39) |
N206S |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,934,014 (GRCm39) |
N2542D |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,331,488 (GRCm39) |
Y2562H |
probably damaging |
Het |
Dnah12 |
C |
G |
14: 26,493,008 (GRCm39) |
D1256E |
probably damaging |
Het |
Dnajb14 |
A |
T |
3: 137,610,613 (GRCm39) |
R280S |
probably damaging |
Het |
Dop1a |
A |
T |
9: 86,402,324 (GRCm39) |
I1173F |
probably benign |
Het |
Fam228a |
T |
C |
12: 4,781,506 (GRCm39) |
T118A |
probably benign |
Het |
Gata2 |
TGCCATGGGCTAGGCAAGCC |
TGCC |
6: 88,182,464 (GRCm39) |
|
probably null |
Het |
Hif3a |
T |
C |
7: 16,771,097 (GRCm39) |
D618G |
possibly damaging |
Het |
Ighv1-43 |
C |
A |
12: 114,909,772 (GRCm39) |
G50V |
probably benign |
Het |
Lrrc37a |
G |
T |
11: 103,392,296 (GRCm39) |
T1043N |
probably benign |
Het |
Masp2 |
T |
A |
4: 148,690,188 (GRCm39) |
D232E |
possibly damaging |
Het |
Ms4a4a |
A |
C |
19: 11,356,172 (GRCm39) |
Q19P |
probably benign |
Het |
Nckipsd |
A |
G |
9: 108,691,275 (GRCm39) |
E399G |
possibly damaging |
Het |
Nnt |
T |
A |
13: 119,503,030 (GRCm39) |
T572S |
probably damaging |
Het |
Olig3 |
A |
G |
10: 19,232,423 (GRCm39) |
D16G |
probably damaging |
Het |
Or4a74 |
C |
T |
2: 89,439,853 (GRCm39) |
V198I |
probably benign |
Het |
Or5p57 |
T |
A |
7: 107,665,108 (GRCm39) |
D299V |
possibly damaging |
Het |
Polr2b |
T |
C |
5: 77,474,500 (GRCm39) |
Y446H |
probably damaging |
Het |
Prtg |
T |
C |
9: 72,755,629 (GRCm39) |
V277A |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,838,599 (GRCm39) |
Y857H |
probably damaging |
Het |
Serac1 |
T |
C |
17: 6,117,067 (GRCm39) |
D163G |
probably damaging |
Het |
Slc22a22 |
C |
A |
15: 57,119,940 (GRCm39) |
V197F |
probably benign |
Het |
Slc2a10 |
C |
T |
2: 165,357,521 (GRCm39) |
P394S |
probably benign |
Het |
Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
St7 |
A |
G |
6: 17,846,244 (GRCm39) |
N120D |
probably benign |
Het |
Sult2a6 |
C |
T |
7: 13,988,668 (GRCm39) |
V31M |
possibly damaging |
Het |
Taf3 |
T |
C |
2: 10,053,109 (GRCm39) |
T35A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,847,908 (GRCm39) |
I319T |
possibly damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ttc23l |
T |
TTGGATG |
15: 10,537,649 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
G |
5: 108,996,921 (GRCm39) |
Y116S |
probably benign |
Het |
Vstm2l |
A |
G |
2: 157,777,283 (GRCm39) |
T54A |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,851,337 (GRCm39) |
M153K |
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,097 (GRCm39) |
P770L |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTCAGTGCTCCCAGAGAC -3'
(R):5'- AAGGTCTCCATGGCTCTCTC -3'
Sequencing Primer
(F):5'- TTCTAAAGAAGCTGATGGCCC -3'
(R):5'- TCCCCAAGTCTAAGCTGCTTAAG -3'
|
Posted On |
2015-05-15 |