Incidental Mutation 'IGL00323:Exd2'
ID 10566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exd2
Ensembl Gene ENSMUSG00000032705
Gene Name exonuclease 3'-5' domain containing 2
Synonyms 4930539P14Rik, Exdl2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL00323
Quality Score
Status
Chromosome 12
Chromosomal Location 80509869-80544909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80522940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 133 (V133A)
Ref Sequence ENSEMBL: ENSMUSP00000043049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038185] [ENSMUST00000219272]
AlphaFold Q8VEG4
Predicted Effect probably damaging
Transcript: ENSMUST00000038185
AA Change: V133A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
AA Change: V133A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 40 72 N/A INTRINSIC
35EXOc 105 291 3.8e-10 SMART
Blast:HNHc 438 492 1e-6 BLAST
low complexity region 517 532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000219272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219477
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,311,247 (GRCm39) Y106H probably damaging Het
Atrnl1 C A 19: 57,680,249 (GRCm39) N716K probably benign Het
Ccnq A G 11: 78,641,782 (GRCm39) V236A probably benign Het
Cdk13 A T 13: 17,895,683 (GRCm39) N1075K possibly damaging Het
Daam1 G A 12: 72,005,517 (GRCm39) probably benign Het
Glrb T C 3: 80,769,262 (GRCm39) D155G probably damaging Het
Gm13941 T A 2: 110,935,198 (GRCm39) M11L unknown Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Inpp5d G T 1: 87,611,537 (GRCm39) V329F probably benign Het
Lilrb4b A T 10: 51,357,347 (GRCm39) D61V probably benign Het
Malt1 T A 18: 65,582,034 (GRCm39) C299* probably null Het
Or10j27 G A 1: 172,957,978 (GRCm39) Q269* probably null Het
Or4f14 A T 2: 111,742,381 (GRCm39) M298K possibly damaging Het
Pigk C A 3: 152,453,269 (GRCm39) S282* probably null Het
Pik3r1 T A 13: 101,827,044 (GRCm39) M1L probably benign Het
Pnpla1 A G 17: 29,096,416 (GRCm39) Y165C probably damaging Het
Rfx7 A G 9: 72,524,702 (GRCm39) N631D probably damaging Het
Rp1 T A 1: 4,416,969 (GRCm39) D1381V probably damaging Het
Rrp8 T C 7: 105,382,223 (GRCm39) probably benign Het
Scn4a A T 11: 106,210,745 (GRCm39) D1757E probably benign Het
Sec62 T C 3: 30,864,591 (GRCm39) probably benign Het
Smarca5 G A 8: 81,440,670 (GRCm39) T598M probably benign Het
Sptbn5 T C 2: 119,884,948 (GRCm39) probably benign Het
Srcap T C 7: 127,141,885 (GRCm39) probably benign Het
Stab1 T A 14: 30,861,263 (GRCm39) E71D probably benign Het
Trhde A T 10: 114,322,652 (GRCm39) S716R possibly damaging Het
Ttn T C 2: 76,726,859 (GRCm39) probably benign Het
Wscd2 A C 5: 113,689,236 (GRCm39) T81P possibly damaging Het
Zfp335 G A 2: 164,734,302 (GRCm39) T1295I probably damaging Het
Other mutations in Exd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Exd2 APN 12 80,527,321 (GRCm39) missense probably benign 0.05
IGL02964:Exd2 APN 12 80,527,302 (GRCm39) missense probably damaging 0.99
IGL03036:Exd2 APN 12 80,536,185 (GRCm39) missense probably damaging 1.00
R0304:Exd2 UTSW 12 80,538,014 (GRCm39) unclassified probably benign
R0436:Exd2 UTSW 12 80,537,544 (GRCm39) splice site probably benign
R1290:Exd2 UTSW 12 80,531,100 (GRCm39) missense probably benign 0.00
R1772:Exd2 UTSW 12 80,536,253 (GRCm39) missense probably benign 0.00
R2102:Exd2 UTSW 12 80,527,377 (GRCm39) missense possibly damaging 0.78
R2104:Exd2 UTSW 12 80,543,575 (GRCm39) missense probably benign 0.01
R2408:Exd2 UTSW 12 80,531,015 (GRCm39) splice site probably benign
R3693:Exd2 UTSW 12 80,527,467 (GRCm39) missense probably damaging 1.00
R4748:Exd2 UTSW 12 80,527,350 (GRCm39) missense probably damaging 1.00
R4773:Exd2 UTSW 12 80,522,592 (GRCm39) missense possibly damaging 0.46
R5022:Exd2 UTSW 12 80,543,564 (GRCm39) missense probably damaging 1.00
R5057:Exd2 UTSW 12 80,543,564 (GRCm39) missense probably damaging 1.00
R5179:Exd2 UTSW 12 80,531,118 (GRCm39) missense probably damaging 1.00
R5377:Exd2 UTSW 12 80,536,222 (GRCm39) missense probably damaging 1.00
R7246:Exd2 UTSW 12 80,527,309 (GRCm39) missense probably damaging 1.00
R7761:Exd2 UTSW 12 80,522,546 (GRCm39) missense probably damaging 0.98
R7776:Exd2 UTSW 12 80,539,334 (GRCm39) missense probably damaging 1.00
R8032:Exd2 UTSW 12 80,536,427 (GRCm39) missense probably benign 0.00
R8420:Exd2 UTSW 12 80,522,771 (GRCm39) missense probably benign
R8559:Exd2 UTSW 12 80,522,631 (GRCm39) missense probably benign 0.00
R9064:Exd2 UTSW 12 80,531,148 (GRCm39) critical splice donor site probably null
R9173:Exd2 UTSW 12 80,536,236 (GRCm39) missense probably benign 0.00
R9274:Exd2 UTSW 12 80,539,674 (GRCm39) critical splice donor site probably null
R9674:Exd2 UTSW 12 80,536,372 (GRCm39) missense probably benign 0.00
RF013:Exd2 UTSW 12 80,522,706 (GRCm39) frame shift probably null
RF015:Exd2 UTSW 12 80,522,691 (GRCm39) intron probably benign
RF022:Exd2 UTSW 12 80,522,691 (GRCm39) intron probably benign
RF023:Exd2 UTSW 12 80,522,689 (GRCm39) intron probably benign
RF025:Exd2 UTSW 12 80,522,729 (GRCm39) intron probably benign
RF029:Exd2 UTSW 12 80,522,720 (GRCm39) frame shift probably null
RF035:Exd2 UTSW 12 80,522,729 (GRCm39) intron probably benign
RF035:Exd2 UTSW 12 80,522,674 (GRCm39) intron probably benign
RF039:Exd2 UTSW 12 80,522,715 (GRCm39) frame shift probably null
Posted On 2012-12-06