Incidental Mutation 'R6503:Anxa4'
ID 519845
Institutional Source Beutler Lab
Gene Symbol Anxa4
Ensembl Gene ENSMUSG00000029994
Gene Name annexin A4
Synonyms Anx4, Xanx-4, annexin IV, AIV
MMRRC Submission 044635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R6503 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 86713822-86770566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86721649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 204 (S204P)
Ref Sequence ENSEMBL: ENSMUSP00000115346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001187] [ENSMUST00000113675] [ENSMUST00000123732] [ENSMUST00000127152] [ENSMUST00000155456] [ENSMUST00000204398] [ENSMUST00000204441]
AlphaFold P97429
Predicted Effect probably damaging
Transcript: ENSMUST00000001187
AA Change: S226P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
AA Change: S226P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000113675
AA Change: S226P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
AA Change: S226P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000123732
AA Change: S204P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
AA Change: S204P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
ANX 31 83 1.66e-20 SMART
ANX 103 155 6.69e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129772
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135921
Predicted Effect probably damaging
Transcript: ENSMUST00000155456
AA Change: S122P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994
AA Change: S122P

DomainStartEndE-ValueType
ANX 22 69 1.06e-2 SMART
ANX 83 135 9.84e-23 SMART
ANX 158 210 2.37e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204398
AA Change: S226P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
AA Change: S226P

DomainStartEndE-ValueType
ANX 31 83 7.1e-23 SMART
ANX 103 155 2.8e-27 SMART
ANX 187 239 4.3e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204441
AA Change: S226P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
AA Change: S226P

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G T 7: 78,747,580 (GRCm39) A784S probably benign Het
Arhgef7 A G 8: 11,883,054 (GRCm39) N625D possibly damaging Het
Cage1 G A 13: 38,209,425 (GRCm39) T78I possibly damaging Het
Dnaaf2 A T 12: 69,244,285 (GRCm39) C259S probably benign Het
Enah C T 1: 181,746,076 (GRCm39) G402R probably damaging Het
Epha6 T A 16: 60,025,984 (GRCm39) H486L possibly damaging Het
Fat4 A G 3: 39,036,406 (GRCm39) M3353V probably benign Het
Gulp1 A T 1: 44,812,540 (GRCm39) Q170L probably damaging Het
Jag1 C T 2: 136,943,549 (GRCm39) G216S probably damaging Het
Krt8 T A 15: 101,906,369 (GRCm39) Y380F possibly damaging Het
Mettl18 T C 1: 163,824,687 (GRCm39) V336A possibly damaging Het
Ntmt2 T A 1: 163,531,715 (GRCm39) D146V probably damaging Het
Oas1e T C 5: 120,926,042 (GRCm39) D342G probably benign Het
Or4a75 A G 2: 89,447,922 (GRCm39) S205P possibly damaging Het
Parp10 G A 15: 76,126,684 (GRCm39) R195C probably damaging Het
Pcdha1 G A 18: 37,064,724 (GRCm39) V463M probably damaging Het
Prb1c C A 6: 132,338,655 (GRCm39) G188* probably null Het
Rb1 T C 14: 73,443,320 (GRCm39) I778V probably benign Het
Sacs T A 14: 61,448,810 (GRCm39) S3619T probably benign Het
St18 A T 1: 6,865,621 (GRCm39) D33V probably damaging Het
Stag3 T C 5: 138,302,682 (GRCm39) S1014P probably damaging Het
Syngap1 A G 17: 27,163,658 (GRCm39) D40G probably benign Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem131l A G 3: 83,848,251 (GRCm39) S300P probably benign Het
Other mutations in Anxa4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTGTAACTCGTGTTTCAGGAGCT -3'
(R):5'- GCATGCAAATGCCACTGATC -3'

Sequencing Primer
(F):5'- CCTCAACAGGTATTGCAAGCATGTG -3'
(R):5'- TGCCACTGATCACATGCAGAGAG -3'
Posted On 2018-06-06