Incidental Mutation 'IGL02639:Defa29'
ID301647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa29
Ensembl Gene ENSMUSG00000074437
Gene Namedefensin, alpha, 29
SynonymsCRS1C-2, 2010319H24Rik, Defcr-rs1, 2010300L12Rik, Defa-rs1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02639
Quality Score
Status
Chromosome8
Chromosomal Location21325887-21327020 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21326121 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 77 (C77R)
Ref Sequence ENSEMBL: ENSMUSP00000096489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098890]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098890
AA Change: C77R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096489
Gene: ENSMUSG00000074437
AA Change: C77R

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 2.9e-26 PFAM
low complexity region 65 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179812
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,429,804 R71* probably null Het
Abca5 A T 11: 110,288,073 I1140N possibly damaging Het
Atp6v0a1 T A 11: 101,055,518 I773N possibly damaging Het
Atp9a A G 2: 168,649,620 M675T probably damaging Het
Baz1a A G 12: 54,896,025 probably benign Het
Cd5l T C 3: 87,368,506 V261A probably damaging Het
Copb1 A G 7: 114,226,595 probably benign Het
Cul5 T C 9: 53,655,342 D130G possibly damaging Het
Cyp2j5 T A 4: 96,658,749 Q176L probably benign Het
D430042O09Rik A G 7: 125,872,792 I1518V probably damaging Het
Ddo A G 10: 40,647,737 D241G probably damaging Het
Dpp4 T C 2: 62,352,240 N566D probably benign Het
Emilin2 T C 17: 71,274,549 D394G probably benign Het
Fbf1 T C 11: 116,152,600 E461G probably benign Het
Fgfr2 A G 7: 130,228,802 probably benign Het
Fibcd1 G A 2: 31,817,150 T365M probably damaging Het
Fndc3a A C 14: 72,574,357 H344Q probably benign Het
Fnip1 T A 11: 54,475,640 C52* probably null Het
Fto T A 8: 91,409,528 N143K probably damaging Het
Gm2035 G T 12: 87,919,499 T120K probably benign Het
Hells G T 19: 38,938,429 L84F probably damaging Het
Hydin G A 8: 110,538,449 V2755I probably benign Het
Irgq C A 7: 24,531,462 A26E probably damaging Het
Klhl29 A T 12: 5,137,453 Y304N probably damaging Het
Muc6 T C 7: 141,649,578 probably benign Het
Myo15 T C 11: 60,478,621 F736L probably benign Het
Nynrin G T 14: 55,870,655 W1073L probably damaging Het
Olfr116 A T 17: 37,623,987 I216N probably benign Het
Olfr1490 A T 19: 13,654,596 T51S possibly damaging Het
Olfr310 A T 7: 86,269,720 I23N probably damaging Het
Olfr389 A T 11: 73,776,545 C261S probably benign Het
Olfr63 G A 17: 33,269,395 V224M possibly damaging Het
Olfr642 C A 7: 104,049,781 C191F probably damaging Het
Olfr675 T A 7: 105,024,222 I253F probably damaging Het
Pdzd2 T A 15: 12,592,243 K105M probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pola2 A G 19: 5,953,774 V191A probably benign Het
Slc22a8 A T 19: 8,593,959 Y18F probably benign Het
Slc26a5 C T 5: 21,819,767 V440M probably damaging Het
Other mutations in Defa29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01644:Defa29 APN 8 21326121 missense possibly damaging 0.53
IGL03159:Defa29 APN 8 21326962 missense possibly damaging 0.89
FR4342:Defa29 UTSW 8 21326144 missense probably benign
R1912:Defa29 UTSW 8 21326012 missense possibly damaging 0.66
R1932:Defa29 UTSW 8 21326849 missense probably damaging 0.96
R7261:Defa29 UTSW 8 21326802 critical splice donor site probably null
R7999:Defa29 UTSW 8 21326843 missense probably benign 0.32
R8100:Defa29 UTSW 8 21326974 start codon destroyed probably null 0.05
R8412:Defa29 UTSW 8 21326046 missense probably benign
Posted On2015-04-16