Incidental Mutation 'IGL01137:Anxa7'
ID52724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa7
Ensembl Gene ENSMUSG00000021814
Gene Nameannexin A7
Synonymssynexin, Anx7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.166) question?
Stock #IGL01137
Quality Score
Status
Chromosome14
Chromosomal Location20455260-20480133 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 20456580 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 431 (Q431*)
Ref Sequence ENSEMBL: ENSMUSP00000153669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073] [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225941]
Predicted Effect probably benign
Transcript: ENSMUST00000022348
SMART Domains Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543

DomainStartEndE-ValueType
Blast:C2 11 122 5e-44 BLAST
low complexity region 494 503 N/A INTRINSIC
low complexity region 581 590 N/A INTRINSIC
Blast:TPR 591 623 2e-11 BLAST
Blast:TPR 624 657 3e-15 BLAST
TPR 658 691 1.73e1 SMART
Blast:TPR 693 724 2e-7 BLAST
TPR 905 938 1.26e1 SMART
TPR 939 972 5.03e-1 SMART
TPR 976 1009 2.52e-1 SMART
TPR 1043 1076 2.07e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022349
SMART Domains Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543

DomainStartEndE-ValueType
Blast:C2 11 122 5e-44 BLAST
low complexity region 438 447 N/A INTRINSIC
low complexity region 569 578 N/A INTRINSIC
Blast:TPR 579 611 2e-11 BLAST
Blast:TPR 612 645 3e-15 BLAST
TPR 646 679 1.73e1 SMART
Blast:TPR 681 712 2e-7 BLAST
TPR 932 965 1.26e1 SMART
TPR 966 999 5.03e-1 SMART
TPR 1003 1036 2.52e-1 SMART
TPR 1070 1103 2.07e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056073
SMART Domains Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543

DomainStartEndE-ValueType
Blast:C2 11 122 5e-44 BLAST
low complexity region 494 503 N/A INTRINSIC
low complexity region 625 634 N/A INTRINSIC
Blast:TPR 635 667 2e-11 BLAST
Blast:TPR 668 701 3e-15 BLAST
TPR 702 735 1.73e1 SMART
Blast:TPR 737 768 2e-7 BLAST
TPR 949 982 1.26e1 SMART
TPR 983 1016 5.03e-1 SMART
TPR 1020 1053 2.52e-1 SMART
TPR 1087 1120 2.07e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000065504
AA Change: Q431*
SMART Domains Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: Q431*

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 null
Transcript: ENSMUST00000100844
AA Change: Q453*
SMART Domains Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: Q453*

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: ENSMUST00000141432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224410
Predicted Effect probably null
Transcript: ENSMUST00000224975
AA Change: Q431*
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,394,611 probably null Het
Ankrd11 T C 8: 122,884,336 T2583A probably damaging Het
Asb15 T A 6: 24,556,522 D5E probably benign Het
Bex1 C A X: 136,214,494 D29Y probably damaging Het
Cadm2 G A 16: 66,815,350 T108I probably damaging Het
Cecr2 T G 6: 120,762,028 L1211V probably damaging Het
Cntn2 T C 1: 132,521,297 probably benign Het
Ctrc C A 4: 141,838,754 V198L possibly damaging Het
Cyp2g1 A G 7: 26,814,259 S208G possibly damaging Het
Ddx46 T A 13: 55,669,717 Y718* probably null Het
Dlec1 T C 9: 119,137,311 I1116T probably damaging Het
Dnajc13 A G 9: 104,160,490 Y2177H probably benign Het
Dpp6 T C 5: 27,714,488 F661S probably damaging Het
Dpy19l2 G A 9: 24,658,562 T365I possibly damaging Het
Flot2 T C 11: 78,049,507 Y27H probably damaging Het
Gsta4 T C 9: 78,205,922 Y95H possibly damaging Het
Kir3dl1 A G X: 136,526,611 T192A probably damaging Het
Llgl1 T A 11: 60,709,999 N640K probably benign Het
Lrch1 C T 14: 74,757,092 V691M probably damaging Het
Myh9 T C 15: 77,769,542 D1302G probably benign Het
Myo18a T G 11: 77,827,829 F935V probably damaging Het
Mypn T C 10: 63,152,854 E464G probably benign Het
Olfr1085 A T 2: 86,657,711 I249N possibly damaging Het
Olfr1453 A T 19: 13,028,030 F100I possibly damaging Het
Olfr209 A C 16: 59,361,972 M82R probably benign Het
Olfr685 A G 7: 105,180,488 V290A probably benign Het
R3hdm1 C T 1: 128,181,875 R39C probably damaging Het
Rps3a3 A T 13: 108,671,132 probably benign Het
Sec24b C T 3: 130,007,444 S401N probably benign Het
Slc22a22 C A 15: 57,254,278 G289V probably damaging Het
Stk33 T C 7: 109,329,568 I246V probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Timmdc1 A T 16: 38,518,385 H114Q probably benign Het
Tlcd2 T C 11: 75,469,511 Y127H probably damaging Het
Tnfrsf11a G A 1: 105,809,422 D85N possibly damaging Het
Trbc2 T C 6: 41,547,817 probably benign Het
Unc13b G A 4: 43,091,291 R39H probably damaging Het
Vwa8 T C 14: 79,103,647 L1521P probably damaging Het
Zbtb17 T A 4: 141,466,367 C607* probably null Het
Other mutations in Anxa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Anxa7 APN 14 20458681 missense possibly damaging 0.87
IGL01376:Anxa7 APN 14 20460456 missense probably benign 0.00
IGL01651:Anxa7 APN 14 20456501 missense probably damaging 1.00
IGL02830:Anxa7 APN 14 20456540 missense possibly damaging 0.67
IGL03078:Anxa7 APN 14 20456556 missense probably damaging 0.97
IGL03177:Anxa7 APN 14 20456586 missense probably benign 0.41
FR4449:Anxa7 UTSW 14 20469411 missense probably damaging 0.97
FR4548:Anxa7 UTSW 14 20469411 missense probably damaging 0.97
FR4737:Anxa7 UTSW 14 20469411 missense probably damaging 0.97
FR4976:Anxa7 UTSW 14 20469411 missense probably damaging 0.97
LCD18:Anxa7 UTSW 14 20469411 missense probably damaging 0.97
R0049:Anxa7 UTSW 14 20462610 missense probably damaging 1.00
R0049:Anxa7 UTSW 14 20462610 missense probably damaging 1.00
R0121:Anxa7 UTSW 14 20460159 missense probably damaging 0.97
R0329:Anxa7 UTSW 14 20469498 splice site probably null
R0330:Anxa7 UTSW 14 20469498 splice site probably null
R1416:Anxa7 UTSW 14 20462707 missense probably damaging 1.00
R1601:Anxa7 UTSW 14 20464615 nonsense probably null
R1701:Anxa7 UTSW 14 20460161 missense probably damaging 1.00
R1794:Anxa7 UTSW 14 20471467 missense unknown
R1828:Anxa7 UTSW 14 20462664 missense probably damaging 1.00
R4676:Anxa7 UTSW 14 20467915 missense probably benign 0.00
R5354:Anxa7 UTSW 14 20464909 missense possibly damaging 0.63
R6547:Anxa7 UTSW 14 20469393 missense probably benign 0.13
R6985:Anxa7 UTSW 14 20471568 missense unknown
R7226:Anxa7 UTSW 14 20460195 missense probably damaging 0.97
R7267:Anxa7 UTSW 14 20469406 missense probably benign 0.05
Posted On2013-06-21