Incidental Mutation 'IGL01376:Anxa7'
ID 78731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa7
Ensembl Gene ENSMUSG00000021814
Gene Name annexin A7
Synonyms Anx7, synexin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01376
Quality Score
Status
Chromosome 14
Chromosomal Location 20505328-20530201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20510524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 313 (N313D)
Ref Sequence ENSEMBL: ENSMUSP00000153669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225941]
AlphaFold Q07076
Predicted Effect probably benign
Transcript: ENSMUST00000065504
AA Change: N313D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: N313D

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 37 103 N/A INTRINSIC
low complexity region 111 129 N/A INTRINSIC
ANX 177 229 5.92e-26 SMART
ANX 249 301 3.12e-25 SMART
ANX 333 385 1.03e-11 SMART
ANX 408 460 2e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100844
AA Change: N335D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: N335D

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 37 103 N/A INTRINSIC
low complexity region 111 129 N/A INTRINSIC
ANX 177 229 5.92e-26 SMART
ANX 249 301 3.12e-25 SMART
ANX 333 385 1.03e-11 SMART
ANX 408 460 2e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224410
Predicted Effect probably benign
Transcript: ENSMUST00000224975
AA Change: N313D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000225941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226001
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are viable but exhibit altered Ca2+ signaling and/or homeostasis in cardiomyocytes and glia cells, and changes in erythrocyte shape, osmotic resistance, platelet number and aggregation velocity. Homozygotes for another null allele die at ~E10 with cerebral hemorrhage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,245,640 (GRCm39) I61K probably benign Het
Acot12 A G 13: 91,932,790 (GRCm39) Y521C probably damaging Het
Cdk14 T C 5: 5,060,839 (GRCm39) I327M probably damaging Het
Clca3b T C 3: 144,531,812 (GRCm39) N664S possibly damaging Het
Cpb1 A C 3: 20,324,488 (GRCm39) L62R probably benign Het
Cracdl A G 1: 37,667,425 (GRCm39) L207P probably damaging Het
Eef2 G A 10: 81,013,883 (GRCm39) probably benign Het
Enox1 T C 14: 77,489,283 (GRCm39) probably benign Het
Esco1 A T 18: 10,594,892 (GRCm39) C131* probably null Het
Etv1 A T 12: 38,907,039 (GRCm39) D347V probably damaging Het
Fat1 A G 8: 45,479,878 (GRCm39) I2975V probably benign Het
Ghsr A G 3: 27,425,977 (GRCm39) E11G probably benign Het
Gins4 T C 8: 23,717,343 (GRCm39) D166G probably benign Het
Iglv2 G T 16: 19,079,315 (GRCm39) H62N possibly damaging Het
Irf2bp1 T C 7: 18,739,952 (GRCm39) S531P possibly damaging Het
Lrig3 T A 10: 125,830,335 (GRCm39) F144L probably benign Het
Magi1 C T 6: 94,260,074 (GRCm39) R77Q possibly damaging Het
Mlkl A G 8: 112,046,379 (GRCm39) L298P probably damaging Het
Ndc1 T C 4: 107,232,394 (GRCm39) L193P probably damaging Het
Npas3 A T 12: 54,091,369 (GRCm39) T308S probably benign Het
Nt5dc3 A T 10: 86,670,028 (GRCm39) Q541L probably benign Het
Or10ag53 T C 2: 87,083,217 (GRCm39) V312A possibly damaging Het
Or8k37 A C 2: 86,469,953 (GRCm39) V33G probably benign Het
Parp10 G T 15: 76,125,877 (GRCm39) T437K probably benign Het
Phf3 A G 1: 30,869,566 (GRCm39) V494A possibly damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Sars2 T A 7: 28,449,308 (GRCm39) Y307N probably damaging Het
Serping1 A T 2: 84,600,529 (GRCm39) V271E probably damaging Het
Sgpl1 G A 10: 60,949,849 (GRCm39) P117S probably damaging Het
Slc38a1 A C 15: 96,483,437 (GRCm39) L297R probably damaging Het
Strbp A G 2: 37,535,663 (GRCm39) M15T probably damaging Het
Tdp2 A G 13: 25,020,932 (GRCm39) probably null Het
Tex10 T C 4: 48,456,740 (GRCm39) Y657C possibly damaging Het
Xrcc4 A T 13: 90,210,169 (GRCm39) S92T probably benign Het
Other mutations in Anxa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Anxa7 APN 14 20,508,749 (GRCm39) missense possibly damaging 0.87
IGL01137:Anxa7 APN 14 20,506,648 (GRCm39) nonsense probably null
IGL01651:Anxa7 APN 14 20,506,569 (GRCm39) missense probably damaging 1.00
IGL02830:Anxa7 APN 14 20,506,608 (GRCm39) missense possibly damaging 0.67
IGL03078:Anxa7 APN 14 20,506,624 (GRCm39) missense probably damaging 0.97
IGL03177:Anxa7 APN 14 20,506,654 (GRCm39) missense probably benign 0.41
FR4449:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
FR4548:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
FR4737:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
FR4976:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
LCD18:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
R0049:Anxa7 UTSW 14 20,512,678 (GRCm39) missense probably damaging 1.00
R0049:Anxa7 UTSW 14 20,512,678 (GRCm39) missense probably damaging 1.00
R0121:Anxa7 UTSW 14 20,510,227 (GRCm39) missense probably damaging 0.97
R0329:Anxa7 UTSW 14 20,519,566 (GRCm39) splice site probably null
R0330:Anxa7 UTSW 14 20,519,566 (GRCm39) splice site probably null
R1416:Anxa7 UTSW 14 20,512,775 (GRCm39) missense probably damaging 1.00
R1601:Anxa7 UTSW 14 20,514,683 (GRCm39) nonsense probably null
R1701:Anxa7 UTSW 14 20,510,229 (GRCm39) missense probably damaging 1.00
R1794:Anxa7 UTSW 14 20,521,535 (GRCm39) missense unknown
R1828:Anxa7 UTSW 14 20,512,732 (GRCm39) missense probably damaging 1.00
R4676:Anxa7 UTSW 14 20,517,983 (GRCm39) missense probably benign 0.00
R5354:Anxa7 UTSW 14 20,514,977 (GRCm39) missense possibly damaging 0.63
R6547:Anxa7 UTSW 14 20,519,461 (GRCm39) missense probably benign 0.13
R6985:Anxa7 UTSW 14 20,521,636 (GRCm39) missense unknown
R7226:Anxa7 UTSW 14 20,510,263 (GRCm39) missense probably damaging 0.97
R7267:Anxa7 UTSW 14 20,519,474 (GRCm39) missense probably benign 0.05
R7811:Anxa7 UTSW 14 20,510,254 (GRCm39) missense probably benign
R8550:Anxa7 UTSW 14 20,506,593 (GRCm39) missense probably damaging 1.00
R8877:Anxa7 UTSW 14 20,517,548 (GRCm39) missense probably benign 0.02
R8936:Anxa7 UTSW 14 20,521,495 (GRCm39) missense unknown
R9035:Anxa7 UTSW 14 20,510,460 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05