Incidental Mutation 'R6134:Anxa10'
ID 487281
Institutional Source Beutler Lab
Gene Symbol Anxa10
Ensembl Gene ENSMUSG00000031635
Gene Name annexin A10
Synonyms
MMRRC Submission 044281-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6134 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 62510076-62576184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62530977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 78 (H78N)
Ref Sequence ENSEMBL: ENSMUSP00000034054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034052] [ENSMUST00000034054]
AlphaFold Q9QZ10
Predicted Effect probably damaging
Transcript: ENSMUST00000034052
AA Change: H78N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034052
Gene: ENSMUSG00000031635
AA Change: H78N

DomainStartEndE-ValueType
ANX 34 86 6.71e-16 SMART
ANX 106 158 8.13e-15 SMART
ANX 198 241 5.48e-2 SMART
ANX 264 316 6.51e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000034054
AA Change: H78N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034054
Gene: ENSMUSG00000031635
AA Change: H78N

DomainStartEndE-ValueType
ANX 34 86 6.71e-16 SMART
ANX 106 161 2.38e-1 SMART
ANX 178 221 5.48e-2 SMART
ANX 244 296 6.51e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210799
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 94% (51/54)
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. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Litter sizes from crosses of females that are either homozygous or heterozygous for a null allele contain fewer pups than wild-type females, indicating a dominant maternal effect on embryonic lethality. Embryos of homozygous null females die between E4.5 and E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,767,619 (GRCm39) E39K probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aktip T A 8: 91,856,388 (GRCm39) S30C probably damaging Het
Aoah C T 13: 21,095,293 (GRCm39) R196W probably damaging Het
Arl4c A T 1: 88,629,152 (GRCm39) W79R probably damaging Het
Brd2 A T 17: 34,332,669 (GRCm39) D178E probably benign Het
Cacna1e G A 1: 154,577,037 (GRCm39) P120L probably damaging Het
Cdh16 A T 8: 105,342,697 (GRCm39) M17K probably benign Het
Cdhr17 A T 5: 17,029,683 (GRCm39) D473V probably damaging Het
Chit1 A G 1: 134,071,798 (GRCm39) T103A possibly damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Coch T A 12: 51,649,536 (GRCm39) D282E probably damaging Het
Col1a2 C A 6: 4,538,035 (GRCm39) S1181R unknown Het
Col6a2 T C 10: 76,442,978 (GRCm39) D506G probably damaging Het
Crx A T 7: 15,602,032 (GRCm39) Y215* probably null Het
Fasn A T 11: 120,713,012 (GRCm39) S58T probably benign Het
Fhip1a T C 3: 85,580,651 (GRCm39) E518G possibly damaging Het
Garem1 A T 18: 21,262,881 (GRCm39) D644E probably benign Het
H2-Q2 A C 17: 35,562,217 (GRCm39) T155P probably damaging Het
Insr A T 8: 3,242,572 (GRCm39) I49N probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lnpep A G 17: 17,773,454 (GRCm39) M639T probably benign Het
Lypd11 G A 7: 24,425,481 (GRCm39) A3V probably damaging Het
Map3k20 C T 2: 72,240,503 (GRCm39) S333F probably damaging Het
Miga2 A G 2: 30,261,229 (GRCm39) S175G probably benign Het
Muc3a A T 5: 137,244,579 (GRCm39) I191N probably damaging Het
Ncoa2 A G 1: 13,244,595 (GRCm39) V701A probably damaging Het
Nid2 T C 14: 19,828,851 (GRCm39) V565A probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Numbl G C 7: 26,980,739 (GRCm39) A574P probably damaging Het
Oas3 A G 5: 120,907,113 (GRCm39) V508A unknown Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pcdhb21 T A 18: 37,647,461 (GRCm39) S197T probably benign Het
Pck2 T A 14: 55,781,419 (GRCm39) M180K probably damaging Het
Pgr T C 9: 8,900,740 (GRCm39) V91A possibly damaging Het
Phtf1 A T 3: 103,911,721 (GRCm39) M643L probably damaging Het
Prokr1 T C 6: 87,565,837 (GRCm39) T3A possibly damaging Het
Ptgs1 T C 2: 36,141,190 (GRCm39) Y546H probably damaging Het
Rasa1 A G 13: 85,374,745 (GRCm39) L742P probably benign Het
Rbbp6 T C 7: 122,596,534 (GRCm39) probably null Het
Rgs22 A G 15: 36,107,194 (GRCm39) L64P probably damaging Het
Rnf213 A T 11: 119,302,296 (GRCm39) I407F probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scin G A 12: 40,110,578 (GRCm39) P690L probably damaging Het
Septin9 T C 11: 117,242,987 (GRCm39) L58P probably damaging Het
Slc1a7 A G 4: 107,869,633 (GRCm39) E566G probably damaging Het
Speer4f1 G A 5: 17,681,140 (GRCm39) R6Q probably benign Het
Tnxb A T 17: 34,890,986 (GRCm39) Y443F probably damaging Het
Trpv1 A G 11: 73,135,143 (GRCm39) I79V probably benign Het
Ttll6 C T 11: 96,030,568 (GRCm39) T245I possibly damaging Het
Vmn2r26 T C 6: 124,038,444 (GRCm39) I673T probably damaging Het
Zfp60 T C 7: 27,449,323 (GRCm39) F664L probably benign Het
Other mutations in Anxa10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Anxa10 APN 8 62,529,348 (GRCm39) missense probably damaging 1.00
IGL03354:Anxa10 APN 8 62,549,778 (GRCm39) missense probably damaging 1.00
R0687:Anxa10 UTSW 8 62,545,606 (GRCm39) missense possibly damaging 0.69
R0826:Anxa10 UTSW 8 62,529,318 (GRCm39) nonsense probably null
R0883:Anxa10 UTSW 8 62,531,001 (GRCm39) missense probably benign 0.40
R0945:Anxa10 UTSW 8 62,513,279 (GRCm39) splice site probably benign
R1124:Anxa10 UTSW 8 62,514,038 (GRCm39) splice site probably null
R1647:Anxa10 UTSW 8 62,545,618 (GRCm39) missense probably damaging 1.00
R2877:Anxa10 UTSW 8 62,513,373 (GRCm39) missense probably damaging 1.00
R3706:Anxa10 UTSW 8 62,517,321 (GRCm39) missense probably damaging 1.00
R4677:Anxa10 UTSW 8 62,516,054 (GRCm39) missense probably damaging 1.00
R5109:Anxa10 UTSW 8 62,516,093 (GRCm39) missense possibly damaging 0.91
R5554:Anxa10 UTSW 8 62,514,080 (GRCm39) missense possibly damaging 0.93
R5971:Anxa10 UTSW 8 62,530,960 (GRCm39) missense probably benign 0.00
R6079:Anxa10 UTSW 8 62,530,960 (GRCm39) missense probably benign 0.00
R6857:Anxa10 UTSW 8 62,514,051 (GRCm39) missense probably benign 0.19
R6901:Anxa10 UTSW 8 62,549,816 (GRCm39) missense probably damaging 1.00
R7428:Anxa10 UTSW 8 62,545,543 (GRCm39) missense probably benign 0.01
R8683:Anxa10 UTSW 8 62,510,825 (GRCm39) missense probably damaging 1.00
R8920:Anxa10 UTSW 8 62,527,580 (GRCm39) missense probably benign 0.00
R9276:Anxa10 UTSW 8 62,549,753 (GRCm39) missense probably damaging 1.00
R9500:Anxa10 UTSW 8 62,545,545 (GRCm39) missense probably benign 0.00
Z1088:Anxa10 UTSW 8 62,545,540 (GRCm39) missense probably damaging 0.97
Z1176:Anxa10 UTSW 8 62,516,104 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AAATTGCAGGACCATCACAGG -3'
(R):5'- CCTCAAATCCATTGTCTAGTGTTAC -3'

Sequencing Primer
(F):5'- ACCATCACAGGGAAGTCTATCCTTTG -3'
(R):5'- GTGTTACCCAAAAATATGTGAGTGAG -3'
Posted On 2017-10-10