Incidental Mutation 'IGL03280:Macrod1'
ID415567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Macrod1
Ensembl Gene ENSMUSG00000036278
Gene NameMACRO domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03280
Quality Score
Status
Chromosome19
Chromosomal Location7056768-7198061 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7197572 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 309 (E309G)
Ref Sequence ENSEMBL: ENSMUSP00000039507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025679] [ENSMUST00000040261] [ENSMUST00000123594] [ENSMUST00000142085]
Predicted Effect probably benign
Transcript: ENSMUST00000025679
SMART Domains Protein: ENSMUSP00000025679
Gene: ENSMUSG00000024767

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Peptidase_C65 40 271 1e-89 PFAM
Pfam:OTU 86 266 1.5e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000040261
AA Change: E309G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278
AA Change: E309G

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 25 41 N/A INTRINSIC
low complexity region 59 74 N/A INTRINSIC
A1pp 151 281 7.67e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123594
SMART Domains Protein: ENSMUSP00000115195
Gene: ENSMUSG00000024767

DomainStartEndE-ValueType
Pfam:Peptidase_C65 10 241 2e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127241
Predicted Effect probably benign
Transcript: ENSMUST00000142085
SMART Domains Protein: ENSMUSP00000122945
Gene: ENSMUSG00000024767

DomainStartEndE-ValueType
Pfam:Peptidase_C65 10 95 2.6e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,423,416 S188P probably benign Het
Bbs5 A G 2: 69,666,971 probably benign Het
Ccdc36 T C 9: 108,404,900 S530G possibly damaging Het
Cdh13 G T 8: 119,314,134 G693W probably damaging Het
Cdh7 T A 1: 110,108,768 Y559* probably null Het
Cemip G A 7: 83,987,330 probably benign Het
Crem A G 18: 3,273,415 probably benign Het
Crygf A G 1: 65,928,170 Y151C probably damaging Het
Dcp1b T C 6: 119,180,058 probably benign Het
Fanca A G 8: 123,316,459 probably benign Het
Fkbp15 A C 4: 62,303,267 probably benign Het
Gabrp C T 11: 33,552,616 R416Q probably benign Het
Gm13103 A T 4: 143,851,919 T250S possibly damaging Het
Impg2 T A 16: 56,268,268 Y1052* probably null Het
Isg15 T C 4: 156,199,862 M70V probably benign Het
Krit1 T A 5: 3,811,248 probably benign Het
Lrrn3 T C 12: 41,454,147 D57G probably damaging Het
Notch1 A T 2: 26,477,874 probably benign Het
Nptx1 T C 11: 119,544,729 T254A probably damaging Het
Olfr1121 A T 2: 87,372,123 D197V probably damaging Het
Pigm A G 1: 172,376,853 Y52C probably damaging Het
Rif1 A G 2: 52,112,599 T2022A probably benign Het
Rint1 T A 5: 23,817,078 L646Q probably damaging Het
Rpe65 A T 3: 159,604,341 I84F probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Scnn1a T C 6: 125,342,781 probably benign Het
Selenop T C 15: 3,280,622 probably benign Het
Siglecf T G 7: 43,355,930 V438G probably benign Het
St8sia4 T A 1: 95,653,774 probably benign Het
Tfeb T C 17: 47,785,937 F43S probably benign Het
Tgm6 A G 2: 130,138,931 Y216C probably damaging Het
Try10 T A 6: 41,354,220 V10E probably benign Het
Ttn A T 2: 76,898,467 C1234* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Usp24 T G 4: 106,380,430 I1095R probably damaging Het
Usp34 C T 11: 23,354,897 H377Y probably damaging Het
Other mutations in Macrod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0138:Macrod1 UTSW 19 7196916 unclassified probably benign
R2697:Macrod1 UTSW 19 7196792 missense probably damaging 1.00
R3085:Macrod1 UTSW 19 7196494 missense probably damaging 1.00
R6535:Macrod1 UTSW 19 7057147 missense probably damaging 1.00
R7688:Macrod1 UTSW 19 7196865 nonsense probably null
Posted On2016-08-02