Incidental Mutation 'R1601:Anxa7'
ID 176171
Institutional Source Beutler Lab
Gene Symbol Anxa7
Ensembl Gene ENSMUSG00000021814
Gene Name annexin A7
Synonyms Anx7, synexin
MMRRC Submission 039638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R1601 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 20505328-20530201 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 20514683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 64 (Y64*)
Ref Sequence ENSEMBL: ENSMUSP00000153174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225941]
AlphaFold Q07076
Predicted Effect probably null
Transcript: ENSMUST00000065504
AA Change: Y206*
SMART Domains Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: Y206*

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: Y228*
SMART Domains Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: Y228*

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: ENSMUST00000223681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224410
Predicted Effect probably null
Transcript: ENSMUST00000224975
AA Change: Y206*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225118
Predicted Effect probably null
Transcript: ENSMUST00000225941
AA Change: Y64*
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,777,546 (GRCm39) S169N probably benign Het
Adgra2 T C 8: 27,600,046 (GRCm39) probably null Het
Adgrb2 T C 4: 129,886,630 (GRCm39) S257P probably benign Het
Adgre1 A G 17: 57,748,353 (GRCm39) K518E probably benign Het
Arhgef7 A G 8: 11,832,638 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,892,566 (GRCm39) Y243* probably null Het
Cdk14 C T 5: 5,185,378 (GRCm39) V176M probably damaging Het
Cnbd2 A G 2: 156,175,551 (GRCm39) E54G probably damaging Het
Crx T C 7: 15,601,736 (GRCm39) probably null Het
Cyp24a1 A G 2: 170,327,611 (GRCm39) F511L possibly damaging Het
Ddx11 A G 17: 66,457,380 (GRCm39) M810V probably damaging Het
Dock10 T C 1: 80,527,519 (GRCm39) T1077A probably benign Het
Dop1a G A 9: 86,418,303 (GRCm39) D2011N probably damaging Het
Ehhadh T A 16: 21,585,158 (GRCm39) H241L probably benign Het
Elp1 T A 4: 56,774,756 (GRCm39) K740* probably null Het
Enah A T 1: 181,747,185 (GRCm39) L523* probably null Het
Fabp3 T C 4: 130,202,641 (GRCm39) L24P probably benign Het
Fat2 A G 11: 55,172,836 (GRCm39) S2626P probably benign Het
Fbxo4 A G 15: 3,998,447 (GRCm39) M337T possibly damaging Het
Gas6 G T 8: 13,515,786 (GRCm39) T662N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Hrh4 G A 18: 13,148,955 (GRCm39) V106I possibly damaging Het
Ido2 G T 8: 25,066,205 (GRCm39) H20Q possibly damaging Het
Itga10 G T 3: 96,560,974 (GRCm39) R613L possibly damaging Het
Itsn2 T C 12: 4,708,452 (GRCm39) S836P probably benign Het
Kcng3 A T 17: 83,895,768 (GRCm39) C233S probably damaging Het
Kdm3b A G 18: 34,941,784 (GRCm39) Q625R probably damaging Het
Kidins220 A G 12: 25,055,087 (GRCm39) S553G probably benign Het
Krt82 A T 15: 101,453,588 (GRCm39) I266N probably damaging Het
Lama5 A T 2: 179,839,538 (GRCm39) L736Q probably damaging Het
Lnx2 A G 5: 146,970,329 (GRCm39) C138R probably damaging Het
Mcm5 T C 8: 75,845,982 (GRCm39) C397R possibly damaging Het
Me1 A C 9: 86,560,065 (GRCm39) Y52D probably damaging Het
Muc4 C A 16: 32,575,875 (GRCm39) probably benign Het
Myo18b G T 5: 113,019,364 (GRCm39) Q638K possibly damaging Het
Ncapd2 A G 6: 125,162,735 (GRCm39) L170P probably damaging Het
Neb A T 2: 52,177,264 (GRCm39) L1359* probably null Het
Nomo1 C A 7: 45,696,379 (GRCm39) S299Y probably damaging Het
Onecut1 A T 9: 74,769,973 (GRCm39) H132L probably benign Het
Or2b2 C A 13: 21,887,396 (GRCm39) T75K probably damaging Het
Or2w3 A T 11: 58,556,903 (GRCm39) R173W probably damaging Het
Or4e2 A C 14: 52,687,899 (GRCm39) T10P probably benign Het
Or7a41 A T 10: 78,871,338 (GRCm39) Y236F possibly damaging Het
Paqr3 A G 5: 97,259,248 (GRCm39) Y19H probably benign Het
Prdx5 T C 19: 6,884,926 (GRCm39) H140R possibly damaging Het
Prox1 T C 1: 189,893,203 (GRCm39) D414G probably damaging Het
Ptprh T G 7: 4,555,637 (GRCm39) E774A probably damaging Het
Rnpepl1 A T 1: 92,844,944 (GRCm39) D412V possibly damaging Het
Sars2 C T 7: 28,448,396 (GRCm39) T259M probably benign Het
Sbf2 T C 7: 109,939,283 (GRCm39) probably null Het
Sbno2 C T 10: 79,896,326 (GRCm39) R898H probably damaging Het
Smox C A 2: 131,362,094 (GRCm39) T172N probably damaging Het
Taf7l2 T C 10: 115,949,521 (GRCm39) S2G probably damaging Het
Tdrd9 C T 12: 111,989,687 (GRCm39) R341* probably null Het
Thrap3 C G 4: 126,073,894 (GRCm39) G284A probably damaging Het
Tmtc4 A G 14: 123,182,238 (GRCm39) V271A probably benign Het
Trank1 A G 9: 111,202,545 (GRCm39) T1637A probably damaging Het
Tspan5 T A 3: 138,602,596 (GRCm39) I166N probably damaging Het
Vps13b T C 15: 35,642,582 (GRCm39) V1398A probably benign Het
Xbp1 C T 11: 5,471,975 (GRCm39) R34W probably damaging 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
IGL01376:Anxa7 APN 14 20,510,524 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGATGACATAAAGCAAACCGCACTCT -3'
(R):5'- GGTGACATCTGGTCCCCTGGAA -3'

Sequencing Primer
(F):5'- gaagtgagaggaaaagaggagag -3'
(R):5'- GTCCCCTGGAAGCATTTTCATC -3'
Posted On 2014-04-24