Incidental Mutation 'R1077:Defa41'
ID 85687
Institutional Source Beutler Lab
Gene Symbol Defa41
Ensembl Gene ENSMUSG00000079116
Gene Name defensin, alpha, 41
Synonyms Gm15293
MMRRC Submission 039163-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1077 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 21691620-21692462 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21692449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 90 (F90Y)
Ref Sequence ENSEMBL: ENSMUSP00000106382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110754]
AlphaFold D3YX02
Predicted Effect probably benign
Transcript: ENSMUST00000110754
AA Change: F90Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106382
Gene: ENSMUSG00000079116
AA Change: F90Y

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 3.5e-24 PFAM
DEFSN 64 92 7.12e-7 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,130,770 (GRCm39) noncoding transcript Het
Apob A G 12: 8,056,017 (GRCm39) K1500E probably benign Het
Atp8b1 A T 18: 64,706,333 (GRCm39) Y225* probably null Het
Cdc25c A T 18: 34,882,026 (GRCm39) probably benign Het
Ceacam15 T C 7: 16,406,000 (GRCm39) N184D probably benign Het
Cntln T C 4: 84,914,716 (GRCm39) S508P probably damaging Het
Dhx34 A G 7: 15,952,293 (GRCm39) S111P probably damaging Het
Dst A G 1: 34,203,248 (GRCm39) E759G probably damaging Het
Fis1 G A 5: 136,994,000 (GRCm39) A28T probably damaging Het
Fsd1 T C 17: 56,297,542 (GRCm39) probably null Het
Grk6 T C 13: 55,602,340 (GRCm39) probably null Het
Il23r A T 6: 67,450,794 (GRCm39) H228Q probably benign Het
Kcnh4 C T 11: 100,643,164 (GRCm39) V368I possibly damaging Het
Kdr T C 5: 76,116,891 (GRCm39) E728G probably damaging Het
Krt33a T A 11: 99,906,763 (GRCm39) M71L probably benign Het
Lrrc7 T G 3: 157,866,780 (GRCm39) D987A probably damaging Het
Naalad2 C T 9: 18,258,802 (GRCm39) R491Q probably damaging Het
Nedd4l A T 18: 65,300,570 (GRCm39) probably benign Het
Pramel7 A G 2: 87,321,534 (GRCm39) L167S probably damaging Het
Prkci A G 3: 31,104,341 (GRCm39) D568G probably damaging Het
Psg18 G A 7: 18,085,000 (GRCm39) T32I possibly damaging Het
Ric8b T A 10: 84,806,581 (GRCm39) probably benign Het
Rnf213 T C 11: 119,376,824 (GRCm39) probably benign Het
Rttn T C 18: 89,082,373 (GRCm39) V1433A probably damaging Het
Sbf2 A T 7: 109,966,379 (GRCm39) probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sfta2 T C 17: 35,961,019 (GRCm39) probably benign Het
Slc17a1 T A 13: 24,062,433 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,626 (GRCm39) C314Y probably benign Het
Smpd4 T C 16: 17,441,833 (GRCm39) V35A probably damaging Het
Sorl1 T C 9: 41,925,786 (GRCm39) D1182G probably damaging Het
Syne2 A G 12: 76,088,809 (GRCm39) I5056V possibly damaging Het
Tex14 T C 11: 87,410,571 (GRCm39) probably benign Het
Tex44 A G 1: 86,354,777 (GRCm39) T229A probably benign Het
Tfap2b T A 1: 19,304,373 (GRCm39) C394* probably null Het
Ttk T A 9: 83,726,202 (GRCm39) probably benign Het
Vmn2r26 G A 6: 124,030,872 (GRCm39) V536I probably benign Het
Wac A G 18: 7,921,916 (GRCm39) T553A probably damaging Het
Wdcp T A 12: 4,900,685 (GRCm39) H180Q probably damaging Het
Wdr33 A G 18: 31,968,514 (GRCm39) H235R probably benign Het
Other mutations in Defa41
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3762:Defa41 UTSW 8 21,691,753 (GRCm39) missense probably damaging 0.99
R4963:Defa41 UTSW 8 21,691,774 (GRCm39) missense probably damaging 0.98
R5170:Defa41 UTSW 8 21,691,696 (GRCm39) missense probably damaging 1.00
R6148:Defa41 UTSW 8 21,692,428 (GRCm39) missense probably benign 0.00
R6594:Defa41 UTSW 8 21,692,471 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TCACATACTATTACATGCTGCCAACCG -3'
(R):5'- ACTGCCTAAAGACAGGTAAAAGTCACG -3'

Sequencing Primer
(F):5'- TGCCAACCGCAAAACTTATTG -3'
(R):5'- TGTGTCTAAACCTGGAGTCATC -3'
Posted On 2013-11-18