Incidental Mutation 'R4588:Defa21'
ID 342615
Institutional Source Beutler Lab
Gene Symbol Defa21
Ensembl Gene ENSMUSG00000074447
Gene Name defensin, alpha, 21
Synonyms 2010016B13Rik, Defcr21
MMRRC Submission 042007-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4588 (G1)
Quality Score 196
Status Not validated
Chromosome 8
Chromosomal Location 21515561-21516532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21515664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 21 (P21S)
Ref Sequence ENSEMBL: ENSMUSP00000076041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076754]
AlphaFold Q8C1P2
Predicted Effect probably damaging
Transcript: ENSMUST00000076754
AA Change: P21S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076041
Gene: ENSMUSG00000074447
AA Change: P21S

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.1e-24 PFAM
DEFSN 64 89 1.25e-2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,833,701 (GRCm39) probably null Het
Abcb4 A T 5: 8,997,328 (GRCm39) I936F probably benign Het
Adnp2 G T 18: 80,171,863 (GRCm39) L849I probably benign Het
Atf7ip T C 6: 136,576,692 (GRCm39) S1032P probably benign Het
Atr A C 9: 95,747,720 (GRCm39) D334A probably benign Het
Atrip A T 9: 108,889,347 (GRCm39) D20E probably damaging Het
Atxn7 T A 14: 14,096,268 (GRCm38) C43* probably null Het
Cfap65 C A 1: 74,943,215 (GRCm39) Q1603H possibly damaging Het
Cpne5 T C 17: 29,383,687 (GRCm39) I327V probably benign Het
Ctsa T C 2: 164,676,070 (GRCm39) S41P possibly damaging Het
Cyp4x1 A T 4: 114,965,994 (GRCm39) L444Q probably damaging Het
Dchs1 C A 7: 105,405,248 (GRCm39) M2431I probably benign Het
Ddi1 T A 9: 6,266,003 (GRCm39) H122L probably benign Het
Ect2 A G 3: 27,201,149 (GRCm39) V77A probably damaging Het
Ermap C A 4: 119,045,445 (GRCm39) probably benign Het
Fancm G A 12: 65,165,215 (GRCm39) probably null Het
Gcnt3 T A 9: 69,941,512 (GRCm39) D352V probably damaging Het
Gys2 A G 6: 142,395,181 (GRCm39) M428T possibly damaging Het
Igtp T A 11: 58,097,508 (GRCm39) N226K probably damaging Het
Itpr2 T A 6: 146,142,694 (GRCm39) H1675L probably benign Het
Lipo4 G A 19: 33,476,647 (GRCm39) P367L possibly damaging Het
Lzts3 T C 2: 130,476,686 (GRCm39) *587W probably null Het
Mast3 T A 8: 71,233,251 (GRCm39) K300* probably null Het
Mepce G A 5: 137,783,534 (GRCm39) T264I possibly damaging Het
Mif4gd A T 11: 115,500,372 (GRCm39) I62N probably damaging Het
Or14a260 C T 7: 85,984,852 (GRCm39) V251I probably benign Het
Or7e175 T A 9: 20,049,383 (GRCm39) *324K probably null Het
Palm3 A G 8: 84,756,015 (GRCm39) K509R probably benign Het
Pde11a T C 2: 75,859,647 (GRCm39) T821A probably damaging Het
Pik3r5 A G 11: 68,384,087 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,271,092 (GRCm39) T3154A probably benign Het
Ptprs A G 17: 56,732,534 (GRCm39) Y438H probably damaging Het
Rdh8 T A 9: 20,734,025 (GRCm39) D70E probably benign Het
Scn2a A T 2: 65,544,111 (GRCm39) I831L possibly damaging Het
Selenoo A G 15: 88,980,921 (GRCm39) H420R probably benign Het
Slc22a16 T C 10: 40,446,677 (GRCm39) probably benign Het
Slc5a1 A G 5: 33,302,632 (GRCm39) T208A probably benign Het
Sparc T C 11: 55,296,062 (GRCm39) M121V probably benign Het
Sstr1 G T 12: 58,260,417 (GRCm39) A347S probably benign Het
Stab1 C A 14: 30,879,402 (GRCm39) V693F probably benign Het
Tnn A G 1: 159,972,681 (GRCm39) V307A probably benign Het
Trmt1 A G 8: 85,417,382 (GRCm39) probably benign Het
Ttc3 T C 16: 94,243,760 (GRCm39) S1255P probably benign Het
Ube2ql1 A C 13: 69,887,276 (GRCm39) S62A unknown Het
Vmn2r84 T A 10: 130,221,809 (GRCm39) M804L probably damaging Het
Vps13a T C 19: 16,617,403 (GRCm39) T3002A probably damaging Het
Vps50 A G 6: 3,562,306 (GRCm39) E467G probably damaging Het
Other mutations in Defa21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03388:Defa21 APN 8 21,515,764 (GRCm39) missense probably damaging 0.99
R0035:Defa21 UTSW 8 21,515,784 (GRCm39) splice site probably null
R5029:Defa21 UTSW 8 21,516,381 (GRCm39) missense probably damaging 0.98
R7107:Defa21 UTSW 8 21,515,724 (GRCm39) missense probably damaging 0.99
Z1176:Defa21 UTSW 8 21,515,739 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TTCCCATCAAAGAGTGCCTTC -3'
(R):5'- AATAGAGTTGCCTTAGGAGCCAC -3'

Sequencing Primer
(F):5'- CCATCAAAGAGTGCCTTCTCTAAGTG -3'
(R):5'- GAGTTGCCTTAGGAGCCACATTAC -3'
Posted On 2015-09-24