Incidental Mutation 'R5390:Anxa4'
ID 425513
Institutional Source Beutler Lab
Gene Symbol Anxa4
Ensembl Gene ENSMUSG00000029994
Gene Name annexin A4
Synonyms Anx4, Xanx-4, annexin IV, AIV
MMRRC Submission 042962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R5390 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 86713822-86770566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86730865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 104 (T104M)
Ref Sequence ENSEMBL: ENSMUSP00000145421 (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: T104M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
AA Change: T104M

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: T104M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
AA Change: T104M

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: T82M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
AA Change: T82M

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 damaging
Transcript: ENSMUST00000127152
AA Change: T104M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138194
Gene: ENSMUSG00000029994
AA Change: T104M

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994

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: T104M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
AA Change: T104M

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: T104M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
AA Change: T104M

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,772 (GRCm39) probably benign Het
BC048562 G T 9: 108,313,777 (GRCm39) W9L probably damaging Het
Cachd1 T A 4: 100,838,203 (GRCm39) M822K probably damaging Het
Clec4g C A 8: 3,768,441 (GRCm39) V97L probably benign Het
Ddx19a G A 8: 111,707,263 (GRCm39) Q176* probably null Het
Eml6 T C 11: 29,710,096 (GRCm39) H1413R probably damaging Het
Fam161b C T 12: 84,395,408 (GRCm39) V512M probably damaging Het
Glcci1 A T 6: 8,537,835 (GRCm39) Q151L probably benign Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Gpnmb A T 6: 49,024,775 (GRCm39) D269V probably damaging Het
Gpx3 A T 11: 54,800,375 (GRCm39) D191V probably damaging Het
Grm4 C T 17: 27,653,712 (GRCm39) C491Y probably damaging Het
H2-M10.4 T A 17: 36,771,533 (GRCm39) H215L probably damaging Het
Hrc T A 7: 44,984,909 (GRCm39) L20Q probably damaging Het
Hsd17b6 T A 10: 127,827,308 (GRCm39) M255L probably benign Het
Hydin A T 8: 111,322,099 (GRCm39) I4584L probably benign Het
Ift70a2 A T 2: 75,807,630 (GRCm39) L294Q probably damaging Het
Ints5 T A 19: 8,873,931 (GRCm39) I630K possibly damaging Het
Kctd10 A G 5: 114,503,764 (GRCm39) I296T possibly damaging Het
Ltv1 G A 10: 13,058,103 (GRCm39) R234C probably damaging Het
Macf1 A G 4: 123,365,546 (GRCm39) S1507P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Ms4a4d T C 19: 11,526,004 (GRCm39) probably null Het
Net1 C T 13: 3,943,379 (GRCm39) A3T probably benign Het
Nlrp2 T C 7: 5,303,908 (GRCm39) M206V probably benign Het
Or1j1 C T 2: 36,702,444 (GRCm39) R220H probably benign Het
Or5an1b T A 19: 12,299,505 (GRCm39) I229F probably damaging Het
Pcyox1l T C 18: 61,832,433 (GRCm39) I205V probably benign Het
Pigo A G 4: 43,019,645 (GRCm39) probably null Het
Pla2g6 A T 15: 79,173,893 (GRCm39) S590T possibly damaging Het
Pwp2 T C 10: 78,013,605 (GRCm39) T539A possibly damaging Het
Rag1 T C 2: 101,473,079 (GRCm39) T688A probably benign Het
Senp7 A G 16: 55,990,279 (GRCm39) T676A probably benign Het
Slc26a6 T C 9: 108,738,499 (GRCm39) probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Sorbs2 A G 8: 46,272,778 (GRCm39) H653R probably damaging Het
Stk3 T A 15: 35,114,706 (GRCm39) K67* probably null Het
Tctn2 A ACC 5: 124,762,400 (GRCm39) probably benign Homo
Ttn T C 2: 76,540,395 (GRCm39) Y34197C probably damaging Het
Ufc1 A C 1: 171,117,746 (GRCm39) L56R probably damaging Het
Usp34 T A 11: 23,394,202 (GRCm39) probably null Het
Vnn3 T A 10: 23,727,483 (GRCm39) M1K probably null Het
Zfp653 C A 9: 21,969,099 (GRCm39) probably null 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
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'- CAGATATGGCAGAACACTCACG -3'
(R):5'- CAGGCCATGTTTCTAGACCC -3'

Sequencing Primer
(F):5'- TTTCAAGTCCTGGGCAAC -3'
(R):5'- GACCCTGTGAGCTGCTATTATAATC -3'
Posted On 2016-08-04