Incidental Mutation 'IGL01682:Gramd2'
ID103828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gramd2
Ensembl Gene ENSMUSG00000074259
Gene NameGRAM domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01682
Quality Score
Status
Chromosome9
Chromosomal Location59680144-59718874 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59712110 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 61 (I61M)
Ref Sequence ENSEMBL: ENSMUSP00000118901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098661] [ENSMUST00000123914] [ENSMUST00000128944] [ENSMUST00000129129]
Predicted Effect probably benign
Transcript: ENSMUST00000098661
AA Change: I184M

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096258
Gene: ENSMUSG00000074259
AA Change: I184M

DomainStartEndE-ValueType
GRAM 66 133 2.93e-20 SMART
transmembrane domain 273 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123914
AA Change: I191M

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114530
Gene: ENSMUSG00000074259
AA Change: I191M

DomainStartEndE-ValueType
GRAM 73 140 2.93e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128944
AA Change: I192M

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116879
Gene: ENSMUSG00000074259
AA Change: I192M

DomainStartEndE-ValueType
GRAM 74 141 2.93e-20 SMART
transmembrane domain 281 298 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129129
AA Change: I61M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118901
Gene: ENSMUSG00000074259
AA Change: I61M

DomainStartEndE-ValueType
transmembrane domain 161 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143224
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo T C 12: 37,357,627 probably benign Het
Atp2c1 C T 9: 105,452,842 G93D probably damaging Het
C2cd6 T G 1: 59,062,501 Y333S probably damaging Het
Cacna1a A G 8: 84,536,438 E414G possibly damaging Het
Capn10 C A 1: 92,940,384 T191K probably benign Het
Cd226 A T 18: 89,269,063 R328S probably damaging Het
Cdk10 A G 8: 123,227,658 probably null Het
Cyp4a31 T A 4: 115,578,031 V486D probably damaging Het
Dgke A T 11: 89,052,441 L241I probably damaging Het
Dnah6 G T 6: 73,075,802 A2965E probably damaging Het
Fbn2 A T 18: 58,072,671 C1112S probably damaging Het
Gm10228 T A 16: 89,041,185 Y77F unknown Het
Gng3 T C 19: 8,838,580 I25V probably benign Het
Hcar2 T C 5: 123,864,519 N307S probably benign Het
Iars G A 13: 49,709,658 E529K probably damaging Het
Ilvbl C T 10: 78,577,107 probably benign Het
Lrp1 T C 10: 127,574,978 K1447R probably benign Het
Mmp20 A G 9: 7,671,375 D426G probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr1289 G A 2: 111,483,843 G138S probably damaging Het
Olfr568 C T 7: 102,877,233 L38F probably benign Het
Pip4k2a A G 2: 18,997,968 S10P probably benign Het
Pth1r A T 9: 110,723,706 probably null Het
Rprd1b T C 2: 158,050,160 I201T probably damaging Het
Rsbn1 A G 3: 103,962,380 N719S probably benign Het
Sorcs1 C T 19: 50,181,506 G939E probably benign Het
Ssfa2 A G 2: 79,635,637 Q33R probably damaging Het
St8sia5 A G 18: 77,248,500 K210E probably damaging Het
Trav3-1 G A 14: 52,581,192 V108M probably benign Het
Washc4 T C 10: 83,580,306 I820T possibly damaging Het
Other mutations in Gramd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03032:Gramd2 APN 9 59712127 missense probably benign 0.22
R5119:Gramd2 UTSW 9 59714320 intron probably benign
R5628:Gramd2 UTSW 9 59707723 missense probably benign 0.01
R5703:Gramd2 UTSW 9 59708016 missense probably benign 0.25
R5730:Gramd2 UTSW 9 59711206 missense probably damaging 1.00
R5799:Gramd2 UTSW 9 59708016 missense probably benign 0.25
R7424:Gramd2 UTSW 9 59708071 missense possibly damaging 0.75
R7531:Gramd2 UTSW 9 59709910 missense probably damaging 0.99
Posted On2014-01-21