Incidental Mutation 'IGL02601:Anxa4'
ID |
300068 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Anxa4
|
Ensembl Gene |
ENSMUSG00000029994 |
Gene Name |
annexin A4 |
Synonyms |
Anx4, Xanx-4, annexin IV, AIV |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
IGL02601
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
86713822-86770566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86737683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 13
(T13A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001187]
[ENSMUST00000113675]
[ENSMUST00000123732]
[ENSMUST00000127152]
[ENSMUST00000155456]
[ENSMUST00000204398]
[ENSMUST00000204441]
|
AlphaFold |
P97429 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001187
AA Change: T22A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000001187 Gene: ENSMUSG00000029994 AA Change: T22A
Domain | Start | End | E-Value | Type |
ANX
|
31 |
83 |
1.66e-20 |
SMART |
ANX
|
103 |
155 |
6.69e-25 |
SMART |
ANX
|
187 |
239 |
9.84e-23 |
SMART |
ANX
|
262 |
314 |
2.37e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113675
AA Change: T22A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109305 Gene: ENSMUSG00000029994 AA Change: T22A
Domain | Start | End | E-Value | Type |
ANX
|
31 |
83 |
1.66e-20 |
SMART |
ANX
|
103 |
155 |
6.69e-25 |
SMART |
ANX
|
187 |
239 |
9.84e-23 |
SMART |
ANX
|
262 |
314 |
2.37e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123732
AA Change: T22A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115346 Gene: ENSMUSG00000029994 AA Change: T22A
Domain | Start | End | E-Value | Type |
ANX
|
31 |
79 |
1.6e-13 |
SMART |
ANX
|
81 |
133 |
6.69e-25 |
SMART |
ANX
|
165 |
217 |
9.84e-23 |
SMART |
Pfam:Annexin
|
227 |
254 |
1.5e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127152
AA Change: T22A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138194 Gene: ENSMUSG00000029994 AA Change: T22A
Domain | Start | End | E-Value | Type |
ANX
|
31 |
83 |
1.66e-20 |
SMART |
ANX
|
103 |
155 |
6.69e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129772
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155456
AA Change: T13A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117378 Gene: ENSMUSG00000029994 AA Change: T13A
Domain | Start | End | E-Value | Type |
ANX
|
22 |
69 |
1.06e-2 |
SMART |
ANX
|
83 |
135 |
9.84e-23 |
SMART |
ANX
|
158 |
210 |
2.37e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204398
AA Change: T22A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144961 Gene: ENSMUSG00000029994 AA Change: T22A
Domain | Start | End | E-Value | Type |
ANX
|
31 |
83 |
7.1e-23 |
SMART |
ANX
|
103 |
155 |
2.8e-27 |
SMART |
ANX
|
187 |
239 |
4.3e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204441
AA Change: T22A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000145421 Gene: ENSMUSG00000029994 AA Change: T22A
Domain | Start | End | E-Value | Type |
ANX
|
31 |
83 |
7.1e-23 |
SMART |
ANX
|
103 |
155 |
2.8e-27 |
SMART |
ANX
|
187 |
239 |
4.3e-25 |
SMART |
Pfam:Annexin
|
249 |
274 |
5.4e-6 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016] PHENOTYPE: Mice homozygous for a gene-trapped allele often display abnormal maternal nurturing behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
C |
T |
5: 139,293,541 (GRCm39) |
V57M |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,688,369 (GRCm39) |
K23E |
possibly damaging |
Het |
Anln |
A |
T |
9: 22,249,331 (GRCm39) |
I132K |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,235,022 (GRCm39) |
Y191N |
possibly damaging |
Het |
Carm1 |
G |
A |
9: 21,498,204 (GRCm39) |
V403M |
probably damaging |
Het |
Cbx7 |
A |
G |
15: 79,807,671 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
C |
14: 52,451,757 (GRCm39) |
N16K |
possibly damaging |
Het |
Crtc3 |
A |
T |
7: 80,242,315 (GRCm39) |
D499E |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,249,432 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,060,631 (GRCm39) |
D1421G |
probably damaging |
Het |
Fgb |
T |
A |
3: 82,952,367 (GRCm39) |
E167D |
probably benign |
Het |
Gimap6 |
T |
A |
6: 48,679,409 (GRCm39) |
Q209L |
probably damaging |
Het |
Gm3604 |
G |
A |
13: 62,517,990 (GRCm39) |
H123Y |
possibly damaging |
Het |
Gm5884 |
A |
T |
6: 128,622,749 (GRCm39) |
|
noncoding transcript |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Obox3 |
T |
C |
7: 15,360,848 (GRCm39) |
E97G |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,466,264 (GRCm39) |
H1488R |
probably benign |
Het |
Or4e1 |
A |
T |
14: 52,700,802 (GRCm39) |
Y221* |
probably null |
Het |
Or6c75 |
A |
G |
10: 129,337,723 (GRCm39) |
*323W |
probably null |
Het |
Pak5 |
T |
A |
2: 135,958,855 (GRCm39) |
K78* |
probably null |
Het |
Paqr9 |
A |
G |
9: 95,442,877 (GRCm39) |
N289S |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,122,577 (GRCm39) |
R715H |
probably damaging |
Het |
Pglyrp2 |
T |
C |
17: 32,634,835 (GRCm39) |
H509R |
probably benign |
Het |
Pik3ap1 |
A |
C |
19: 41,290,881 (GRCm39) |
N550K |
probably benign |
Het |
Pon3 |
A |
G |
6: 5,221,671 (GRCm39) |
Y320H |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,608,227 (GRCm39) |
T690S |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,000,686 (GRCm39) |
D925E |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,473,018 (GRCm39) |
D708G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rbmy1b |
A |
G |
Y: 3,774,885 (GRCm39) |
I27M |
probably benign |
Het |
Rfx2 |
G |
A |
17: 57,092,354 (GRCm39) |
H315Y |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sis |
T |
C |
3: 72,820,543 (GRCm39) |
N1407S |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,490,555 (GRCm39) |
L261Q |
probably damaging |
Het |
Sox30 |
T |
G |
11: 45,875,589 (GRCm39) |
L447R |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssu72 |
A |
G |
4: 155,789,882 (GRCm39) |
N15S |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,137,574 (GRCm39) |
S455F |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,928,462 (GRCm39) |
L97Q |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,856,869 (GRCm39) |
N40I |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,794 (GRCm39) |
V877I |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,876,204 (GRCm39) |
H123L |
probably damaging |
Het |
Teddm1b |
A |
G |
1: 153,750,362 (GRCm39) |
Y57C |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,070,935 (GRCm39) |
C2121* |
probably null |
Het |
Tnfsf11 |
T |
A |
14: 78,537,385 (GRCm39) |
R93* |
probably null |
Het |
Tspan12 |
A |
C |
6: 21,835,378 (GRCm39) |
|
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
Vps4a |
T |
C |
8: 107,769,693 (GRCm39) |
I334T |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,583,462 (GRCm39) |
S1110P |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,491,136 (GRCm39) |
S716P |
probably damaging |
Het |
|
Other mutations in Anxa4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01355:Anxa4
|
APN |
6 |
86,729,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R0423:Anxa4
|
UTSW |
6 |
86,737,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R0948:Anxa4
|
UTSW |
6 |
86,718,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R1846:Anxa4
|
UTSW |
6 |
86,718,893 (GRCm39) |
splice site |
probably null |
|
R2341:Anxa4
|
UTSW |
6 |
86,720,135 (GRCm39) |
missense |
probably benign |
0.38 |
R4058:Anxa4
|
UTSW |
6 |
86,734,800 (GRCm39) |
critical splice donor site |
probably null |
|
R5000:Anxa4
|
UTSW |
6 |
86,742,766 (GRCm39) |
utr 5 prime |
probably benign |
|
R5390:Anxa4
|
UTSW |
6 |
86,730,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R6503:Anxa4
|
UTSW |
6 |
86,721,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R6897:Anxa4
|
UTSW |
6 |
86,720,160 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7625:Anxa4
|
UTSW |
6 |
86,714,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R8092:Anxa4
|
UTSW |
6 |
86,718,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R9239:Anxa4
|
UTSW |
6 |
86,734,812 (GRCm39) |
missense |
probably benign |
|
R9352:Anxa4
|
UTSW |
6 |
86,742,775 (GRCm39) |
start gained |
probably benign |
|
R9646:Anxa4
|
UTSW |
6 |
86,730,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |