Incidental Mutation 'R9239:Anxa4'
| ID |
700631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa4
|
| Ensembl Gene |
ENSMUSG00000029994 |
| Gene Name |
annexin A4 |
| Synonyms |
Anx4, Xanx-4, annexin IV, AIV |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R9239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86713822-86770566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86734812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 59
(T59S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001187
(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: T59S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
AA Change: T59S
| 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: T59S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
AA Change: T59S
| 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: T59S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
AA Change: T59S
| 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: T59S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138194
Gene: ENSMUSG00000029994
AA Change: T59S
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
31 |
83 |
1.66e-20 |
SMART |
|
ANX
|
103 |
155 |
6.69e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155456
AA Change: T50S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994
AA Change: T50S
| 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: T59S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
AA Change: T59S
| 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: T59S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
AA Change: T59S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,608 (GRCm39) |
|
probably null |
Het |
| Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,864 (GRCm39) |
N665I |
probably benign |
Het |
| B3gnt8 |
ACCCC |
ACCC |
7: 25,327,676 (GRCm39) |
|
probably null |
Het |
| Cabs1 |
G |
A |
5: 88,127,385 (GRCm39) |
R12Q |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,425,830 (GRCm39) |
V845A |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,059,572 (GRCm39) |
E127G |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,750 (GRCm39) |
V941E |
probably damaging |
Het |
| Fbxo11 |
G |
T |
17: 88,316,522 (GRCm39) |
H284N |
|
Het |
| Fubp1 |
A |
G |
3: 151,923,486 (GRCm39) |
E98G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,626,637 (GRCm39) |
I1358T |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,649,825 (GRCm39) |
N156S |
possibly damaging |
Het |
| Gm3739 |
T |
C |
14: 18,505,221 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Itgb4 |
T |
C |
11: 115,898,130 (GRCm39) |
V1644A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,580,023 (GRCm39) |
D254G |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,197,020 (GRCm39) |
R6S |
probably benign |
Het |
| Klhl40 |
A |
T |
9: 121,607,637 (GRCm39) |
T266S |
probably benign |
Het |
| Lratd1 |
A |
G |
12: 14,200,185 (GRCm39) |
W181R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,995,856 (GRCm39) |
D289G |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,353,954 (GRCm39) |
D851V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,346 (GRCm39) |
V269A |
probably benign |
Het |
| Or52n4 |
G |
T |
7: 104,293,746 (GRCm39) |
H278N |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,439,454 (GRCm39) |
T99A |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,770,649 (GRCm39) |
I1042M |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,774,765 (GRCm39) |
I106T |
probably benign |
Het |
| Ppcs |
C |
T |
4: 119,276,235 (GRCm39) |
V290M |
possibly damaging |
Het |
| Rnasel |
T |
A |
1: 153,630,097 (GRCm39) |
N204K |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,402,935 (GRCm39) |
Y336H |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,184,710 (GRCm39) |
R285G |
possibly damaging |
Het |
| Slc25a2 |
A |
T |
18: 37,771,169 (GRCm39) |
M120K |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spats2l |
A |
G |
1: 57,871,257 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,871 (GRCm39) |
V289E |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,606,015 (GRCm39) |
L431H |
probably damaging |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,087,453 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,165,078 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,237,453 (GRCm39) |
F599L |
probably benign |
Het |
| Vcl |
A |
G |
14: 21,072,092 (GRCm39) |
D819G |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r1 |
G |
T |
3: 64,011,959 (GRCm39) |
V607L |
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 |
|
IGL02601:Anxa4
|
APN |
6 |
86,737,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTAGCTGCTGCCCCATAC -3'
(R):5'- GAAAGGCAAACGTTGTTTTGC -3'
Sequencing Primer
(F):5'- GCTGCCCCATACCCATTG -3'
(R):5'- GCAAACGTTGTTTTGCTTCCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation