Incidental Mutation 'R1266:Defa22'
ID 151168
Institutional Source Beutler Lab
Gene Symbol Defa22
Ensembl Gene ENSMUSG00000074443
Gene Name defensin, alpha, 22
Synonyms Defcr22
MMRRC Submission 039333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.046) question?
Stock # R1266 (G1)
Quality Score 91
Status Not validated
Chromosome 8
Chromosomal Location 21652293-21653265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21652384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 17 (V17F)
Ref Sequence ENSEMBL: ENSMUSP00000096496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098897]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098897
AA Change: V17F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443
AA Change: V17F

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.1e-26 PFAM
DEFSN 64 89 1.46e-3 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob C A 12: 8,056,093 (GRCm39) T1492N probably benign Het
Brix1 T C 15: 10,478,847 (GRCm39) T191A probably damaging Het
C1qc A G 4: 136,617,668 (GRCm39) S143P possibly damaging Het
Crim1 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 78,508,262 (GRCm39) probably benign Het
Fer1l4 T A 2: 155,888,169 (GRCm39) T439S possibly damaging Het
Flt3 A G 5: 147,293,670 (GRCm39) S469P probably benign Het
Krtap19-9b A T 16: 88,728,940 (GRCm39) S54T unknown Het
Ncor1 T C 11: 62,224,866 (GRCm39) D798G probably damaging Het
Oosp1 T C 19: 11,645,163 (GRCm39) H167R possibly damaging Het
Or5d16 A T 2: 87,773,877 (GRCm39) L32M probably benign Het
Poln A T 5: 34,290,453 (GRCm39) probably null Het
Primpol A T 8: 47,046,734 (GRCm39) N187K probably damaging Het
Prr12 A G 7: 44,699,677 (GRCm39) probably benign Het
Setd1b A G 5: 123,285,904 (GRCm39) T317A unknown Het
Sgo2b G A 8: 64,381,455 (GRCm39) T459M probably benign Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zfp455 C T 13: 67,355,028 (GRCm39) R99* probably null Het
Other mutations in Defa22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Defa22 APN 8 21,653,053 (GRCm39) splice site probably null
IGL01154:Defa22 APN 8 21,653,053 (GRCm39) splice site probably null
IGL01155:Defa22 APN 8 21,653,053 (GRCm39) splice site probably null
IGL02142:Defa22 APN 8 21,653,130 (GRCm39) missense possibly damaging 0.93
P0047:Defa22 UTSW 8 21,653,102 (GRCm39) nonsense probably null
PIT4696001:Defa22 UTSW 8 21,652,352 (GRCm39) missense probably damaging 0.99
R0738:Defa22 UTSW 8 21,652,391 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCCAGTTCCCATCAAAGAGTGCC -3'
(R):5'- CAGCCTTCAGCATGGACATTTCAAC -3'

Sequencing Primer
(F):5'- CAAAGAGTGCCTTCTCTAAGTGTG -3'
(R):5'- TAGAGTTGCCTTAGGAACCAC -3'
Posted On 2014-01-29