Incidental Mutation 'R5041:Anxa11'
ID393228
Institutional Source Beutler Lab
Gene Symbol Anxa11
Ensembl Gene ENSMUSG00000021866
Gene Nameannexin A11
SynonymsA830099O17Rik, Anx11
MMRRC Submission 042631-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #R5041 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location25842156-25886804 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 25874764 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 278 (E278*)
Ref Sequence ENSEMBL: ENSMUSP00000107983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022416] [ENSMUST00000112364]
Predicted Effect probably null
Transcript: ENSMUST00000022416
AA Change: E278*
SMART Domains Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
AA Change: E278*

DomainStartEndE-ValueType
low complexity region 3 31 N/A INTRINSIC
low complexity region 73 175 N/A INTRINSIC
ANX 215 267 7.18e-25 SMART
ANX 287 339 7.57e-24 SMART
ANX 371 423 1.35e-20 SMART
ANX 446 498 1.89e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112364
AA Change: E278*
SMART Domains Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
AA Change: E278*

DomainStartEndE-ValueType
low complexity region 3 31 N/A INTRINSIC
low complexity region 73 175 N/A INTRINSIC
ANX 215 267 7.18e-25 SMART
ANX 287 339 7.57e-24 SMART
Pfam:Annexin 357 392 1.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184083
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (42/43)
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, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,730,348 F667S probably benign Het
Akna A G 4: 63,387,144 Y462H possibly damaging Het
Ap3s2 T C 7: 79,920,519 Y20C probably benign Het
Atxn7 T C 14: 14,096,317 probably null Het
AW551984 T C 9: 39,600,598 Y39C probably damaging Het
Becn1 A T 11: 101,288,836 S442T probably benign Het
Bhlhe40 C T 6: 108,662,585 T108I probably damaging Het
Cnst A G 1: 179,605,028 D252G probably damaging Het
Cpxm1 A G 2: 130,394,070 S391P probably damaging Het
Ctnna2 T A 6: 76,915,763 N814Y probably damaging Het
Ddx3y T A Y: 1,266,611 Y282F probably benign Het
Ddx56 A G 11: 6,264,178 V357A probably damaging Het
Frmpd1 T G 4: 45,278,878 C534W probably damaging Het
Gimap8 A G 6: 48,659,163 N621D probably damaging Het
Gm13023 T C 4: 143,793,690 V4A probably benign Het
Herc1 T A 9: 66,429,045 I1624N possibly damaging Het
Htr7 A C 19: 36,057,067 W63G probably benign Het
Ly6g6c T A 17: 35,065,452 probably null Het
Macf1 T C 4: 123,397,046 probably null Het
Mfrp A G 9: 44,102,278 D62G probably damaging Het
Ncam1 T C 9: 49,566,785 Y173C probably damaging Het
Nwd1 T C 8: 72,705,055 V1185A possibly damaging Het
Olfr1218 A T 2: 89,054,921 C168* probably null Het
Olfr573-ps1 T C 7: 102,942,578 probably null Het
Papd5 CCCAACAACGCCAACAA CCCAACAA 8: 88,255,250 probably benign Het
Pcf11 G A 7: 92,658,405 P852S probably benign Het
Ralgapa2 T C 2: 146,485,151 I63V probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,579,925 probably benign Het
Rubcnl T C 14: 75,050,132 F619L probably damaging Het
Sec24d A T 3: 123,294,231 Q247L probably damaging Het
Spns3 G T 11: 72,536,547 Q306K possibly damaging Het
Sstr1 T C 12: 58,213,155 V188A possibly damaging Het
Supt5 A T 7: 28,315,380 L1024Q probably damaging Het
Thegl A G 5: 77,056,081 T319A probably benign Het
Unc13b T A 4: 43,237,836 H3452Q probably benign Het
Usp28 A G 9: 49,037,773 Q864R probably benign Het
Vmn2r43 T C 7: 8,244,807 T786A probably damaging Het
Yy1 TCACCACCACCACCACCACCACCACCACC TCACCACCACCACCACCACCACCACCACCACC 12: 108,793,631 probably benign Het
Other mutations in Anxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Anxa11 APN 14 25870129 missense unknown
twirl UTSW 14 25872734 missense unknown
R0597:Anxa11 UTSW 14 25874228 missense probably damaging 1.00
R0656:Anxa11 UTSW 14 25873997 missense probably damaging 1.00
R0717:Anxa11 UTSW 14 25874789 splice site probably null
R1087:Anxa11 UTSW 14 25870179 missense unknown
R2207:Anxa11 UTSW 14 25874297 missense probably damaging 1.00
R6298:Anxa11 UTSW 14 25872734 missense unknown
R6416:Anxa11 UTSW 14 25874270 missense possibly damaging 0.74
R6944:Anxa11 UTSW 14 25874752 missense probably damaging 0.99
R7389:Anxa11 UTSW 14 25872888 missense probably damaging 0.99
R7760:Anxa11 UTSW 14 25872827 nonsense probably null
X0005:Anxa11 UTSW 14 25874290 missense probably benign 0.03
Z1177:Anxa11 UTSW 14 25870176 missense unknown
Predicted Primers PCR Primer
(F):5'- TGTTAGTGCTCCAGCTCAGG -3'
(R):5'- GAGAAGATGGCATGTTATCTGC -3'

Sequencing Primer
(F):5'- TCCAGCTCAGGGTGCTC -3'
(R):5'- GCATCTTGGAAAAACTACCAGTTGC -3'
Posted On2016-06-15