Incidental Mutation 'R7389:Anxa11'
ID 573323
Institutional Source Beutler Lab
Gene Symbol Anxa11
Ensembl Gene ENSMUSG00000021866
Gene Name annexin A11
Synonyms A830099O17Rik, Anx11
MMRRC Submission 045471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R7389 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 25842580-25887228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25873312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 182 (P182Q)
Ref Sequence ENSEMBL: ENSMUSP00000022416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022416] [ENSMUST00000112364]
AlphaFold P97384
Predicted Effect probably damaging
Transcript: ENSMUST00000022416
AA Change: P182Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
AA Change: P182Q

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 possibly damaging
Transcript: ENSMUST00000112364
AA Change: P182Q

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
AA Change: P182Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asns C A 6: 7,689,291 (GRCm39) L70F probably damaging Het
Cntrl A T 2: 35,017,529 (GRCm39) K445N probably benign Het
Cyp2c50 G T 19: 40,079,107 (GRCm39) R150L probably benign Het
Dqx1 G T 6: 83,041,775 (GRCm39) S539I probably null Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Epha3 T C 16: 63,593,347 (GRCm39) E247G probably damaging Het
Etl4 C T 2: 20,789,904 (GRCm39) Q801* probably null Het
Fabp2 G T 3: 122,689,014 (GRCm39) probably benign Het
Fsip2 G A 2: 82,819,140 (GRCm39) V4958I possibly damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Hdgfl2 T G 17: 56,406,389 (GRCm39) probably null Het
Igfn1 T C 1: 135,894,785 (GRCm39) D1927G probably benign Het
Ino80 A C 2: 119,273,010 (GRCm39) S489A probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lrriq3 A G 3: 154,893,741 (GRCm39) T481A probably benign Het
Map2k3 A T 11: 60,822,862 (GRCm39) probably benign Het
Matr3 A G 18: 35,717,638 (GRCm39) T617A probably benign Het
Mybpc2 T G 7: 44,155,028 (GRCm39) T960P probably benign Het
Ncoa2 T C 1: 13,257,049 (GRCm39) N150S possibly damaging Het
Nup153 A T 13: 46,854,463 (GRCm39) probably null Het
Obscn A G 11: 58,927,226 (GRCm39) L5498P probably benign Het
Or5b21 G T 19: 12,839,981 (GRCm39) V281L probably benign Het
Or5v1b A G 17: 37,841,548 (GRCm39) R227G possibly damaging Het
Paqr8 C A 1: 21,005,389 (GRCm39) P181Q probably damaging Het
Pcdhgb4 T C 18: 37,855,416 (GRCm39) Y604H probably damaging Het
Pja2 T A 17: 64,604,722 (GRCm39) E487V probably damaging Het
Pnpla6 C T 8: 3,593,981 (GRCm39) R1331* probably null Het
Ppl T A 16: 4,924,577 (GRCm39) probably null Het
Rhbdl3 T A 11: 80,237,665 (GRCm39) M299K possibly damaging Het
Scart1 A G 7: 139,808,704 (GRCm39) K872E possibly damaging Het
Slc26a9 A G 1: 131,696,986 (GRCm39) *791W probably null Het
Slc7a2 A G 8: 41,365,552 (GRCm39) Y461C probably benign Het
Sptb G T 12: 76,671,003 (GRCm39) Q447K probably damaging Het
Ssh1 A T 5: 114,096,892 (GRCm39) I205N probably benign Het
Stab1 C T 14: 30,869,196 (GRCm39) V1511I probably benign Het
Tex19.1 T C 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tinf2 G T 14: 55,918,167 (GRCm39) probably null Het
Tmeff1 A G 4: 48,617,097 (GRCm39) probably null Het
Tnip2 G T 5: 34,671,145 (GRCm39) Q33K probably benign Het
Traf3 C A 12: 111,204,187 (GRCm39) L59M probably damaging Het
Trav14d-3-dv8 T C 14: 53,316,328 (GRCm39) Y63H possibly damaging Het
Trim11 C T 11: 58,881,481 (GRCm39) S458L probably damaging Het
Tspan18 A T 2: 93,040,272 (GRCm39) V161E probably benign Het
Usf3 T A 16: 44,038,304 (GRCm39) V928E probably benign Het
Usp29 G A 7: 6,966,457 (GRCm39) V767I possibly damaging Het
Usp34 T G 11: 23,295,200 (GRCm39) F287L Het
Vmn1r213 T C 13: 23,196,556 (GRCm39) C380R probably benign Het
Zfyve9 A G 4: 108,550,515 (GRCm39) probably null 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
R5041:Anxa11 UTSW 14 25,875,188 (GRCm39) nonsense probably null
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
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'- CTTCATATCCAGCCTACCCAGG -3'
(R):5'- AGTAATCTCACGGAAGAGCAAC -3'

Sequencing Primer
(F):5'- AGCCTACCCAGGGGCCC -3'
(R):5'- AACCACCAGGGCTGTGCTTC -3'
Posted On 2019-09-13