Incidental Mutation 'R0724:Anxa3'
ID 262008
Institutional Source Beutler Lab
Gene Symbol Anxa3
Ensembl Gene ENSMUSG00000029484
Gene Name annexin A3
Synonyms Anx3
MMRRC Submission 038906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0724 (G1)
Quality Score 21
Status Validated
Chromosome 5
Chromosomal Location 96941244-96993827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96976607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 198 (T198A)
Ref Sequence ENSEMBL: ENSMUSP00000031447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031447] [ENSMUST00000198631] [ENSMUST00000200379]
AlphaFold O35639
Predicted Effect possibly damaging
Transcript: ENSMUST00000031447
AA Change: T198A

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484
AA Change: T198A

DomainStartEndE-ValueType
ANX 35 87 5.74e-24 SMART
ANX 107 159 1.67e-25 SMART
ANX 191 243 3.67e-22 SMART
ANX 266 318 2.87e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197339
Predicted Effect probably benign
Transcript: ENSMUST00000198631
SMART Domains Protein: ENSMUSP00000143491
Gene: ENSMUSG00000029484

DomainStartEndE-ValueType
ANX 35 87 5.74e-24 SMART
ANX 107 159 1.67e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199656
Predicted Effect probably benign
Transcript: ENSMUST00000200379
SMART Domains Protein: ENSMUSP00000142527
Gene: ENSMUSG00000029484

DomainStartEndE-ValueType
ANX 24 76 7.2e-28 SMART
Meta Mutation Damage Score 0.0963 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,981,573 (GRCm39) E136G probably benign Het
Adgre4 T A 17: 56,159,281 (GRCm39) S655R probably benign Het
Ak7 T A 12: 105,676,513 (GRCm39) V71E probably benign Het
Ank2 C T 3: 126,755,986 (GRCm39) R1077H probably damaging Het
Atp1a1 A T 3: 101,499,755 (GRCm39) I109N possibly damaging Het
Camta1 A G 4: 151,162,349 (GRCm39) I119T probably damaging Het
Carm1 A G 9: 21,498,670 (GRCm39) Y504C probably damaging Het
Casp1 C T 9: 5,303,077 (GRCm39) P177L probably benign Het
Ccdc122 C A 14: 77,329,517 (GRCm39) probably benign Het
Ces1a A G 8: 93,766,141 (GRCm39) S158P probably damaging Het
Ces3a T A 8: 105,776,827 (GRCm39) D103E possibly damaging Het
Clstn1 A C 4: 149,728,081 (GRCm39) D583A possibly damaging Het
Corin A G 5: 72,490,138 (GRCm39) probably benign Het
Cryba1 T C 11: 77,610,283 (GRCm39) D144G probably damaging Het
Cwf19l2 G T 9: 3,421,377 (GRCm39) probably null Het
Dis3l T C 9: 64,214,408 (GRCm39) T1027A possibly damaging Het
Dop1b A G 16: 93,559,213 (GRCm39) E653G probably benign Het
Dst A G 1: 34,227,758 (GRCm39) I1459V probably benign Het
Dyrk3 T C 1: 131,057,877 (GRCm39) T64A probably benign Het
Emp2 C T 16: 10,102,479 (GRCm39) C111Y probably benign Het
Enam A G 5: 88,649,853 (GRCm39) Y454C probably damaging Het
Fbn1 A T 2: 125,193,984 (GRCm39) C1328S probably benign Het
Gata3 T C 2: 9,879,386 (GRCm39) T197A probably benign Het
Gm1043 A G 5: 37,344,573 (GRCm39) T212A probably damaging Het
H2-Eb1 T C 17: 34,534,006 (GRCm39) probably benign Het
Hand1 T C 11: 57,722,506 (GRCm39) H36R probably damaging Het
Hmgcs2 C A 3: 98,204,317 (GRCm39) Y239* probably null Het
Hoxc12 A G 15: 102,845,490 (GRCm39) Y68C probably damaging Het
Inpp5a A G 7: 139,096,579 (GRCm39) I143V probably benign Het
Klhdc2 C A 12: 69,343,822 (GRCm39) F18L probably benign Het
Kpnb1 T C 11: 97,069,130 (GRCm39) Y251C probably damaging Het
Lrch4 A T 5: 137,635,570 (GRCm39) N315I probably damaging Het
Map3k10 A C 7: 27,367,780 (GRCm39) V286G probably damaging Het
Myo7b G A 18: 32,138,602 (GRCm39) probably benign Het
Nlrp2 G T 7: 5,322,221 (GRCm39) L809I probably damaging Het
Oacyl T C 18: 65,870,896 (GRCm39) probably benign Het
Or4q3 A G 14: 50,583,374 (GRCm39) V175A possibly damaging Het
Paxbp1 T A 16: 90,833,424 (GRCm39) D270V probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pira13 T C 7: 3,819,871 (GRCm39) N564S possibly damaging Het
Plcb3 G A 19: 6,940,760 (GRCm39) R359C probably damaging Het
Plcxd3 G A 15: 4,546,350 (GRCm39) S118N probably damaging Het
Ptpn14 T C 1: 189,583,144 (GRCm39) S664P possibly damaging Het
Sirt1 T C 10: 63,159,752 (GRCm39) I443V possibly damaging Het
Slc7a8 G A 14: 54,972,643 (GRCm39) probably benign Het
Smim14 A G 5: 65,610,682 (GRCm39) probably benign Het
Sost C T 11: 101,857,744 (GRCm39) C19Y probably benign Het
Tcaf1 G T 6: 42,652,301 (GRCm39) A727E probably damaging Het
Thoc1 T C 18: 9,963,829 (GRCm39) L144P probably damaging Het
Tmem132b A T 5: 125,860,485 (GRCm39) T577S possibly damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tshr T C 12: 91,505,060 (GRCm39) F666S probably damaging Het
Wdr1 A G 5: 38,698,205 (GRCm39) V192A possibly damaging Het
Zfp697 T C 3: 98,335,482 (GRCm39) W416R probably damaging Het
Other mutations in Anxa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Anxa3 APN 5 96,982,630 (GRCm39) splice site probably benign
IGL03243:Anxa3 APN 5 96,976,551 (GRCm39) unclassified probably benign
F6893:Anxa3 UTSW 5 96,972,853 (GRCm39) unclassified probably benign
R0026:Anxa3 UTSW 5 96,986,260 (GRCm39) missense probably benign 0.01
R0468:Anxa3 UTSW 5 96,958,958 (GRCm39) missense probably benign 0.00
R0562:Anxa3 UTSW 5 96,960,743 (GRCm39) missense possibly damaging 0.90
R1442:Anxa3 UTSW 5 96,976,549 (GRCm39) splice site probably null
R2276:Anxa3 UTSW 5 96,978,349 (GRCm39) critical splice donor site probably null
R4922:Anxa3 UTSW 5 96,968,288 (GRCm39) missense probably damaging 1.00
R5108:Anxa3 UTSW 5 96,978,273 (GRCm39) missense possibly damaging 0.83
R5230:Anxa3 UTSW 5 96,986,171 (GRCm39) missense possibly damaging 0.47
R5529:Anxa3 UTSW 5 96,976,238 (GRCm39) missense probably benign 0.00
R5733:Anxa3 UTSW 5 96,968,331 (GRCm39) missense probably damaging 1.00
R5857:Anxa3 UTSW 5 96,976,651 (GRCm39) critical splice donor site probably null
R5902:Anxa3 UTSW 5 96,960,712 (GRCm39) nonsense probably null
R6558:Anxa3 UTSW 5 96,960,798 (GRCm39) splice site probably null
R6772:Anxa3 UTSW 5 96,958,972 (GRCm39) missense probably damaging 0.98
R7425:Anxa3 UTSW 5 96,982,680 (GRCm39) missense probably benign 0.30
R7515:Anxa3 UTSW 5 96,986,179 (GRCm39) missense probably damaging 1.00
R7619:Anxa3 UTSW 5 96,978,263 (GRCm39) missense probably damaging 1.00
R8018:Anxa3 UTSW 5 96,968,288 (GRCm39) missense probably damaging 1.00
R8197:Anxa3 UTSW 5 96,982,651 (GRCm39) missense probably benign 0.05
R8405:Anxa3 UTSW 5 96,978,295 (GRCm39) missense probably benign 0.00
R8723:Anxa3 UTSW 5 96,986,206 (GRCm39) missense probably benign 0.05
R9046:Anxa3 UTSW 5 96,976,626 (GRCm39) missense probably damaging 0.99
R9119:Anxa3 UTSW 5 96,976,557 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGTAGTGTCAAGCATCCACCATTCC -3'
(R):5'- GTTCTCATCTAGAGTGCCGCACAG -3'

Sequencing Primer
(F):5'- AGGTCCTGTATTTGACCTTCAG -3'
(R):5'- CCTGCTAAGTCTTTAGGGCAAAAC -3'
Posted On 2015-02-04