Incidental Mutation 'R5048:Defb10'
ID 394468
Institutional Source Beutler Lab
Gene Symbol Defb10
Ensembl Gene ENSMUSG00000044743
Gene Name defensin beta 10
Synonyms Defb7
MMRRC Submission 042638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5048 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22348917-22352027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22351887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 44 (C44Y)
Ref Sequence ENSEMBL: ENSMUSP00000061533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054162]
AlphaFold Q8R2I8
Predicted Effect probably damaging
Transcript: ENSMUST00000054162
AA Change: C44Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061533
Gene: ENSMUSG00000044743
AA Change: C44Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Defensin_beta 33 68 3.4e-13 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.1%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,138,850 (GRCm39) I144V probably benign Het
Abhd5 T C 9: 122,206,968 (GRCm39) Y85H probably damaging Het
Acadsb G A 7: 131,039,198 (GRCm39) G323D probably damaging Het
Amotl2 A G 9: 102,600,997 (GRCm39) R322G probably benign Het
Aox1 A T 1: 58,098,641 (GRCm39) probably benign Het
Aste1 C T 9: 105,274,188 (GRCm39) R82W probably damaging Het
Atg4b T C 1: 93,703,380 (GRCm39) I139T possibly damaging Het
Btnl5-ps T A 17: 34,707,697 (GRCm39) noncoding transcript Het
Ccdc85c A G 12: 108,187,966 (GRCm39) probably null Het
Clasp1 A G 1: 118,475,340 (GRCm39) probably benign Het
Dhrs9 T C 2: 69,224,744 (GRCm39) V144A probably damaging Het
Dnhd1 G C 7: 105,342,904 (GRCm39) S1416T probably benign Het
Dok1 T A 6: 83,009,087 (GRCm39) probably benign Het
Emilin2 G A 17: 71,580,962 (GRCm39) T588M probably damaging Het
Fam181b A G 7: 92,729,147 (GRCm39) probably benign Het
Fhad1 T C 4: 141,691,987 (GRCm39) probably null Het
Foxi2 A G 7: 135,013,364 (GRCm39) E198G probably damaging Het
Fsip2 C A 2: 82,823,494 (GRCm39) A6409E probably damaging Het
Gje1 T C 10: 14,593,021 (GRCm39) Y65C probably damaging Het
Gm6401 T C 14: 41,789,724 (GRCm39) probably null Het
Gprc5c T C 11: 114,761,177 (GRCm39) *442Q probably null Het
Iars1 T A 13: 49,841,713 (GRCm39) I67N probably damaging Het
Igkv4-79 T C 6: 69,019,971 (GRCm39) S115G probably benign Het
Itga4 C A 2: 79,103,378 (GRCm39) S156R probably benign Het
Lilra6 C T 7: 3,918,440 (GRCm39) probably null Het
Majin C A 19: 6,272,684 (GRCm39) A208E probably benign Het
Megf8 A G 7: 25,030,517 (GRCm39) Q490R possibly damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mgarp G A 3: 51,298,707 (GRCm39) R88C probably damaging Het
Msh2 T C 17: 87,980,196 (GRCm39) F58S probably damaging Het
Nemp1 T C 10: 127,526,804 (GRCm39) probably null Het
Nlrp10 A T 7: 108,523,772 (GRCm39) N569K probably benign Het
Nxpe2 T C 9: 48,237,388 (GRCm39) probably null Het
Or4c106 T C 2: 88,682,807 (GRCm39) V171A possibly damaging Het
Or5w16 C A 2: 87,576,663 (GRCm39) A41E probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pigb T A 9: 72,936,990 (GRCm39) probably null Het
Pitpnb T C 5: 111,530,869 (GRCm39) F221L possibly damaging Het
Prox2 A T 12: 85,141,115 (GRCm39) W363R probably damaging Het
Psmg1 T A 16: 95,785,171 (GRCm39) R139S probably benign Het
Rab11fip3 A G 17: 26,286,554 (GRCm39) probably null Het
Samd9l G A 6: 3,374,157 (GRCm39) R1035C probably benign Het
Shkbp1 G A 7: 27,051,521 (GRCm39) probably benign Het
Slc30a5 C A 13: 100,943,249 (GRCm39) L536F probably damaging Het
Slc6a17 A T 3: 107,378,753 (GRCm39) L643* probably null Het
Slit3 T C 11: 35,479,812 (GRCm39) Y330H probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stoml3 A C 3: 53,408,213 (GRCm39) K86N possibly damaging Het
Tmtc1 A T 6: 148,139,344 (GRCm39) L926Q possibly damaging Het
Tns4 T G 11: 98,969,605 (GRCm39) R285S possibly damaging Het
Uncx C T 5: 139,532,874 (GRCm39) T313M probably benign Het
Vmn2r75 G A 7: 85,814,735 (GRCm39) R253C possibly damaging Het
Zbed6 T C 1: 133,586,462 (GRCm39) S292G probably damaging Het
Zfp143 A G 7: 109,673,325 (GRCm39) T142A probably damaging Het
Zfp287 T C 11: 62,605,777 (GRCm39) K366E probably damaging Het
Other mutations in Defb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Defb10 APN 8 22,351,952 (GRCm39) missense possibly damaging 0.93
R1442:Defb10 UTSW 8 22,348,944 (GRCm39) start codon destroyed probably benign 0.08
R1502:Defb10 UTSW 8 22,348,972 (GRCm39) missense possibly damaging 0.86
R5227:Defb10 UTSW 8 22,351,894 (GRCm39) nonsense probably null
R6879:Defb10 UTSW 8 22,351,898 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCTTGGAAGAGAAAATTGTCCC -3'
(R):5'- CCTAAACCTGGACATTAGCCTTG -3'

Sequencing Primer
(F):5'- TTGGAAGAGAAAATTGTCCCATGAAC -3'
(R):5'- CACAGGTTTCAATAGGATCTGAAG -3'
Posted On 2016-06-15