Incidental Mutation 'R5041:Anxa11'
ID 393228
Institutional Source Beutler Lab
Gene Symbol Anxa11
Ensembl Gene ENSMUSG00000021866
Gene Name annexin A11
Synonyms A830099O17Rik, Anx11
MMRRC Submission 042631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5041 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 25842580-25887228 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 25875188 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P97384
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: 56,550,711 (GRCm39) F667S probably benign Het
Akna A G 4: 63,305,381 (GRCm39) Y462H possibly damaging Het
Ap3s2 T C 7: 79,570,267 (GRCm39) Y20C probably benign Het
Atxn7 T C 14: 14,096,317 (GRCm38) probably null Het
AW551984 T C 9: 39,511,894 (GRCm39) Y39C probably damaging Het
Becn1 A T 11: 101,179,662 (GRCm39) S442T probably benign Het
Bhlhe40 C T 6: 108,639,546 (GRCm39) T108I probably damaging Het
Cnst A G 1: 179,432,593 (GRCm39) D252G probably damaging Het
Cpxm1 A G 2: 130,235,990 (GRCm39) S391P probably damaging Het
Ctnna2 T A 6: 76,892,746 (GRCm39) N814Y probably damaging Het
Ddx3y T A Y: 1,266,611 (GRCm39) Y282F probably benign Het
Ddx56 A G 11: 6,214,178 (GRCm39) V357A probably damaging Het
Frmpd1 T G 4: 45,278,878 (GRCm39) C534W probably damaging Het
Gimap8 A G 6: 48,636,097 (GRCm39) N621D probably damaging Het
Herc1 T A 9: 66,336,327 (GRCm39) I1624N possibly damaging Het
Htr7 A C 19: 36,034,467 (GRCm39) W63G probably benign Het
Ly6g6c T A 17: 35,284,428 (GRCm39) probably null Het
Macf1 T C 4: 123,290,839 (GRCm39) probably null Het
Mfrp A G 9: 44,013,575 (GRCm39) D62G probably damaging Het
Ncam1 T C 9: 49,478,085 (GRCm39) Y173C probably damaging Het
Nwd1 T C 8: 73,431,683 (GRCm39) V1185A possibly damaging Het
Or4c113 A T 2: 88,885,265 (GRCm39) C168* probably null Het
Or51h7 T C 7: 102,591,785 (GRCm39) probably null Het
Pcf11 G A 7: 92,307,613 (GRCm39) P852S probably benign Het
Pramel25 T C 4: 143,520,260 (GRCm39) V4A probably benign Het
Ralgapa2 T C 2: 146,327,071 (GRCm39) I63V probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Rubcnl T C 14: 75,287,572 (GRCm39) F619L probably damaging Het
Sec24d A T 3: 123,087,880 (GRCm39) Q247L probably damaging Het
Spmap2l A G 5: 77,203,928 (GRCm39) T319A probably benign Het
Spns3 G T 11: 72,427,373 (GRCm39) Q306K possibly damaging Het
Sstr1 T C 12: 58,259,941 (GRCm39) V188A possibly damaging Het
Supt5 A T 7: 28,014,805 (GRCm39) L1024Q probably damaging Het
Tent4b CCCAACAACGCCAACAA CCCAACAA 8: 88,981,878 (GRCm39) probably benign Het
Unc13b T A 4: 43,237,836 (GRCm39) H3452Q probably benign Het
Usp28 A G 9: 48,949,073 (GRCm39) Q864R probably benign Het
Vmn2r43 T C 7: 8,247,806 (GRCm39) T786A probably damaging Het
Yy1 TCACCACCACCACCACCACCACCACCACC TCACCACCACCACCACCACCACCACCACCACC 12: 108,759,557 (GRCm39) probably benign Het
Other mutations in Anxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Anxa11 APN 14 25,870,553 (GRCm39) missense unknown
twirl UTSW 14 25,873,158 (GRCm39) missense unknown
R0597:Anxa11 UTSW 14 25,874,652 (GRCm39) missense probably damaging 1.00
R0656:Anxa11 UTSW 14 25,874,421 (GRCm39) missense probably damaging 1.00
R0717:Anxa11 UTSW 14 25,875,213 (GRCm39) splice site probably null
R1087:Anxa11 UTSW 14 25,870,603 (GRCm39) missense unknown
R2207:Anxa11 UTSW 14 25,874,721 (GRCm39) missense probably damaging 1.00
R6298:Anxa11 UTSW 14 25,873,158 (GRCm39) missense unknown
R6416:Anxa11 UTSW 14 25,874,694 (GRCm39) missense possibly damaging 0.74
R6944:Anxa11 UTSW 14 25,875,176 (GRCm39) missense probably damaging 0.99
R7389:Anxa11 UTSW 14 25,873,312 (GRCm39) missense probably damaging 0.99
R7760:Anxa11 UTSW 14 25,873,251 (GRCm39) nonsense probably null
R8881:Anxa11 UTSW 14 25,874,687 (GRCm39) missense probably damaging 1.00
X0005:Anxa11 UTSW 14 25,874,714 (GRCm39) missense probably benign 0.03
Z1177:Anxa11 UTSW 14 25,870,600 (GRCm39) 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 On 2016-06-15