Incidental Mutation 'IGL02964:Exd2'
ID365487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exd2
Ensembl Gene ENSMUSG00000032705
Gene Nameexonuclease 3'-5' domain containing 2
Synonyms4930539P14Rik, Exdl2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL02964
Quality Score
Status
Chromosome12
Chromosomal Location80463095-80500227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80480528 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 165 (V165D)
Ref Sequence ENSEMBL: ENSMUSP00000043049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038185] [ENSMUST00000219039] [ENSMUST00000219272]
Predicted Effect probably damaging
Transcript: ENSMUST00000038185
AA Change: V165D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
AA Change: V165D

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: ENSMUST00000219039
Predicted Effect probably damaging
Transcript: ENSMUST00000219272
AA Change: V11D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219477
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,351,810 I1364V possibly damaging Het
Adamts19 T A 18: 58,988,965 I813K probably damaging Het
Adamtsl1 G T 4: 86,424,357 C1703F probably damaging Het
Atp2b4 T A 1: 133,730,565 T536S probably damaging Het
Capg T A 6: 72,562,844 I340N probably damaging Het
Casc3 T A 11: 98,828,923 M567K probably damaging Het
Chmp1a T C 8: 123,208,067 E50G probably damaging Het
Cryba1 T C 11: 77,719,381 probably benign Het
Dnah8 T A 17: 30,746,761 Y2356N probably damaging Het
Ercc6 T G 14: 32,570,103 S1141R probably benign Het
Fbln1 A T 15: 85,231,462 E233V probably damaging Het
Ftsj3 T C 11: 106,252,337 K384E probably damaging Het
Ggt5 A G 10: 75,604,128 I188V probably benign Het
Gm42742 A T 7: 127,016,846 S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 D449E probably damaging Het
Igfbp7 C T 5: 77,351,341 S239N possibly damaging Het
Klf11 C T 12: 24,655,627 A360V probably damaging Het
Kmt2e T A 5: 23,467,100 probably benign Het
Magea8 A T X: 154,986,682 C144S probably damaging Het
Med4 A G 14: 73,517,921 Q223R probably damaging Het
Mmd2 G T 5: 142,569,477 F153L probably damaging Het
Nav3 C A 10: 109,736,953 R1615L probably damaging Het
Nisch A G 14: 31,180,812 probably benign Het
Nr1i3 A T 1: 171,214,395 Y16F probably benign Het
Olfr1134 C A 2: 87,656,714 C69F probably damaging Het
Olfr828 A G 9: 18,815,728 C189R probably damaging Het
Olfr860 G A 9: 19,846,254 R122* probably null Het
Olfr954 A G 9: 39,461,781 T117A possibly damaging Het
Ppil6 C A 10: 41,507,483 H252N probably benign Het
Ppp6r2 C T 15: 89,259,175 P175L probably damaging Het
Psme4 T A 11: 30,791,095 Y90* probably null Het
Rbm20 C A 19: 53,813,702 L214I probably benign Het
Rhox2f T C X: 37,571,681 V24A probably benign Het
Scnm1 T C 3: 95,133,037 K96E probably benign Het
Sec16a A C 2: 26,419,723 D2090E probably benign Het
Smg6 T C 11: 74,930,750 probably null Het
Snx2 T C 18: 53,194,558 S119P probably benign Het
Stam A G 2: 14,115,968 probably benign Het
Sult2b1 T A 7: 45,735,274 E126V probably benign Het
Tor1aip1 T C 1: 156,035,844 E131G probably damaging Het
Ttn C T 2: 76,788,696 C14367Y probably damaging Het
Ubr4 T C 4: 139,407,820 F821S possibly damaging Het
Vmn1r32 T C 6: 66,552,938 N285D probably benign Het
Vmn2r23 T C 6: 123,741,782 L698P possibly damaging Het
Wnt8a T A 18: 34,542,421 L18Q possibly damaging Het
Zfp747 T C 7: 127,374,494 E168G probably benign Het
Other mutations in Exd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Exd2 APN 12 80476166 missense probably damaging 1.00
IGL00546:Exd2 APN 12 80480547 missense probably benign 0.05
IGL03036:Exd2 APN 12 80489411 missense probably damaging 1.00
R0304:Exd2 UTSW 12 80491240 unclassified probably benign
R0436:Exd2 UTSW 12 80490770 splice site probably benign
R1290:Exd2 UTSW 12 80484326 missense probably benign 0.00
R1772:Exd2 UTSW 12 80489479 missense probably benign 0.00
R2102:Exd2 UTSW 12 80480603 missense possibly damaging 0.78
R2104:Exd2 UTSW 12 80496801 missense probably benign 0.01
R2408:Exd2 UTSW 12 80484241 splice site probably benign
R3693:Exd2 UTSW 12 80480693 missense probably damaging 1.00
R4748:Exd2 UTSW 12 80480576 missense probably damaging 1.00
R4773:Exd2 UTSW 12 80475818 missense possibly damaging 0.46
R5022:Exd2 UTSW 12 80496790 missense probably damaging 1.00
R5057:Exd2 UTSW 12 80496790 missense probably damaging 1.00
R5179:Exd2 UTSW 12 80484344 missense probably damaging 1.00
R5377:Exd2 UTSW 12 80489448 missense probably damaging 1.00
R7246:Exd2 UTSW 12 80480535 missense probably damaging 1.00
R7761:Exd2 UTSW 12 80475772 missense probably damaging 0.98
R7776:Exd2 UTSW 12 80492560 missense probably damaging 1.00
R8032:Exd2 UTSW 12 80489653 missense probably benign 0.00
R8420:Exd2 UTSW 12 80475997 missense probably benign
RF013:Exd2 UTSW 12 80475932 frame shift probably null
RF015:Exd2 UTSW 12 80475917 intron probably benign
RF022:Exd2 UTSW 12 80475917 intron probably benign
RF023:Exd2 UTSW 12 80475915 intron probably benign
RF025:Exd2 UTSW 12 80475955 intron probably benign
RF029:Exd2 UTSW 12 80475946 frame shift probably null
RF035:Exd2 UTSW 12 80475900 intron probably benign
RF035:Exd2 UTSW 12 80475955 intron probably benign
RF039:Exd2 UTSW 12 80475941 frame shift probably null
Posted On2015-12-18