Incidental Mutation 'R4058:Anxa4'
| ID |
314336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa4
|
| Ensembl Gene |
ENSMUSG00000029994 |
| Gene Name |
annexin A4 |
| Synonyms |
Anx4, Xanx-4, annexin IV, AIV |
| MMRRC Submission |
040969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R4058 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86713822-86770566 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 86734800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001187]
[ENSMUST00000113675]
[ENSMUST00000123732]
[ENSMUST00000123732]
[ENSMUST00000127152]
[ENSMUST00000155456]
[ENSMUST00000155456]
[ENSMUST00000204398]
[ENSMUST00000204398]
[ENSMUST00000204441]
[ENSMUST00000204441]
|
| AlphaFold |
P97429 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001187
|
| SMART Domains |
Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000113675
|
| SMART Domains |
Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000123732
|
| SMART Domains |
Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000123732
|
| SMART Domains |
Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138194
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000155456
|
| SMART Domains |
Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000155456
|
| SMART Domains |
Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000204398
|
| SMART Domains |
Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000204398
|
| SMART Domains |
Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
| 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 null
Transcript: ENSMUST00000204441
|
| SMART Domains |
Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204441
|
| SMART Domains |
Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
| 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 |
|
| Meta Mutation Damage Score |
0.9584 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
88% (38/43) |
| 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 |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
| H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
| Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
| Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,561,245 (GRCm39) |
F418L |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
| Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,358,525 (GRCm39) |
I83N |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
| Slc1a5 |
T |
C |
7: 16,529,778 (GRCm39) |
V399A |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,264 (GRCm39) |
K581M |
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
| Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCCTCATCCTCTCATCTAG -3'
(R):5'- TTTCCTCACACAGGGGAGAC -3'
Sequencing Primer
(F):5'- AGCTGCTGCCCCATACC -3'
(R):5'- GGAGACCATTTCCTCACACAGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation