Incidental Mutation 'IGL02029:Gramd1a'
ID 184304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gramd1a
Ensembl Gene ENSMUSG00000001248
Gene Name GRAM domain containing 1A
Synonyms 1300003M23Rik, D7Bwg0611e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL02029
Quality Score
Status
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30832249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 596 (R596H)
Ref Sequence ENSEMBL: ENSMUSP00000082778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000186634]
AlphaFold Q8VEF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000001280
AA Change: R630H

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: R630H

DomainStartEndE-ValueType
low complexity region 8 39 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
GRAM 93 160 2.54e-29 SMART
low complexity region 342 360 N/A INTRINSIC
Pfam:DUF4782 372 520 7.3e-37 PFAM
low complexity region 531 542 N/A INTRINSIC
low complexity region 548 562 N/A INTRINSIC
transmembrane domain 606 628 N/A INTRINSIC
low complexity region 707 719 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000085636
AA Change: R596H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: R596H

DomainStartEndE-ValueType
low complexity region 8 39 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
GRAM 93 160 2.54e-29 SMART
low complexity region 342 360 N/A INTRINSIC
Pfam:DUF4782 372 500 1.1e-28 PFAM
low complexity region 514 528 N/A INTRINSIC
transmembrane domain 572 594 N/A INTRINSIC
low complexity region 673 685 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185985
Predicted Effect probably benign
Transcript: ENSMUST00000186634
SMART Domains Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248

DomainStartEndE-ValueType
low complexity region 8 39 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
GRAM 93 160 8.9e-32 SMART
low complexity region 342 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188032
Predicted Effect unknown
Transcript: ENSMUST00000202814
AA Change: R192H
Predicted Effect probably benign
Transcript: ENSMUST00000206432
Predicted Effect probably benign
Transcript: ENSMUST00000206233
Predicted Effect unknown
Transcript: ENSMUST00000220635
AA Change: R84H
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 126,916,152 (GRCm39) V221A unknown Het
Akr1c13 T A 13: 4,255,361 (GRCm39) Y317* probably null Het
Bicd2 T A 13: 49,522,975 (GRCm39) I30N probably damaging Het
Cadm2 G T 16: 66,544,182 (GRCm39) N291K probably damaging Het
Ccdc61 C T 7: 18,637,423 (GRCm39) C68Y probably damaging Het
Ccnl2 A G 4: 155,906,319 (GRCm39) S351G probably benign Het
Cdcp1 A G 9: 123,012,899 (GRCm39) probably benign Het
Clhc1 T C 11: 29,510,798 (GRCm39) S256P probably benign Het
Fam83h T C 15: 75,878,287 (GRCm39) E37G probably damaging Het
Fancd2 C T 6: 113,547,936 (GRCm39) L938F probably benign Het
Fbn2 G T 18: 58,342,675 (GRCm39) A68E probably benign Het
Fcrl1 T A 3: 87,283,794 (GRCm39) probably benign Het
Ganc A G 2: 120,290,338 (GRCm39) T892A probably benign Het
Limk1 A T 5: 134,686,808 (GRCm39) Y518* probably null Het
Map1a A G 2: 121,133,779 (GRCm39) T1294A possibly damaging Het
Marchf3 G A 18: 56,940,753 (GRCm39) P126S probably benign Het
Ntn5 A G 7: 45,336,015 (GRCm39) I149V probably benign Het
Nup43 T C 10: 7,543,347 (GRCm39) F8L possibly damaging Het
Or5b122 A T 19: 13,563,468 (GRCm39) M267L probably benign Het
Or5be3 A G 2: 86,864,245 (GRCm39) F107L probably benign Het
P2rx6 C T 16: 17,385,959 (GRCm39) S236F probably benign Het
Peg10 G T 6: 4,754,473 (GRCm39) probably benign Het
Runx2 T A 17: 44,969,574 (GRCm39) R238* probably null Het
Serpinb9d A T 13: 33,380,512 (GRCm39) I133L possibly damaging Het
Snph A G 2: 151,435,527 (GRCm39) V434A probably damaging Het
Trp53rkb C A 2: 166,637,314 (GRCm39) P90Q probably damaging Het
Ttn C A 2: 76,580,148 (GRCm39) E21836* probably null Het
Tut7 A G 13: 59,932,702 (GRCm39) probably benign Het
Ube3c T A 5: 29,824,326 (GRCm39) F507I probably damaging Het
Ugt1a6a T C 1: 88,066,403 (GRCm39) S70P probably benign Het
Zfp354b C T 11: 50,814,664 (GRCm39) C87Y probably benign Het
Zfp462 G T 4: 55,079,395 (GRCm39) probably benign Het
Other mutations in Gramd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Gramd1a APN 7 30,841,993 (GRCm39) missense probably damaging 0.99
IGL01627:Gramd1a APN 7 30,839,221 (GRCm39) missense probably damaging 0.99
IGL01684:Gramd1a APN 7 30,838,330 (GRCm39) missense possibly damaging 0.67
IGL01793:Gramd1a APN 7 30,833,838 (GRCm39) critical splice donor site probably null
IGL01986:Gramd1a APN 7 30,833,434 (GRCm39) missense possibly damaging 0.58
IGL02060:Gramd1a APN 7 30,829,996 (GRCm39) nonsense probably null
IGL02569:Gramd1a APN 7 30,829,932 (GRCm39) unclassified probably benign
IGL02606:Gramd1a APN 7 30,833,940 (GRCm39) missense probably damaging 1.00
IGL02715:Gramd1a APN 7 30,835,279 (GRCm39) missense probably damaging 1.00
IGL03253:Gramd1a APN 7 30,839,271 (GRCm39) nonsense probably null
PIT4377001:Gramd1a UTSW 7 30,843,095 (GRCm39) missense possibly damaging 0.95
PIT4618001:Gramd1a UTSW 7 30,832,021 (GRCm39) missense probably benign 0.00
R0179:Gramd1a UTSW 7 30,841,843 (GRCm39) missense probably damaging 1.00
R0329:Gramd1a UTSW 7 30,837,679 (GRCm39) missense possibly damaging 0.93
R0330:Gramd1a UTSW 7 30,837,679 (GRCm39) missense possibly damaging 0.93
R0628:Gramd1a UTSW 7 30,842,049 (GRCm39) missense probably damaging 1.00
R0834:Gramd1a UTSW 7 30,837,589 (GRCm39) missense possibly damaging 0.94
R1421:Gramd1a UTSW 7 30,842,291 (GRCm39) missense probably damaging 0.98
R1430:Gramd1a UTSW 7 30,832,211 (GRCm39) missense probably damaging 0.97
R1682:Gramd1a UTSW 7 30,842,325 (GRCm39) splice site probably null
R1703:Gramd1a UTSW 7 30,838,959 (GRCm39) missense possibly damaging 0.96
R1822:Gramd1a UTSW 7 30,841,998 (GRCm39) missense probably damaging 1.00
R2308:Gramd1a UTSW 7 30,839,215 (GRCm39) missense probably damaging 0.97
R3861:Gramd1a UTSW 7 30,835,365 (GRCm39) missense possibly damaging 0.90
R4184:Gramd1a UTSW 7 30,831,940 (GRCm39) intron probably benign
R4908:Gramd1a UTSW 7 30,838,292 (GRCm39) missense probably benign 0.27
R4978:Gramd1a UTSW 7 30,832,213 (GRCm39) missense possibly damaging 0.74
R5723:Gramd1a UTSW 7 30,833,908 (GRCm39) missense probably damaging 1.00
R5927:Gramd1a UTSW 7 30,839,246 (GRCm39) missense probably benign 0.33
R6466:Gramd1a UTSW 7 30,843,221 (GRCm39) missense probably benign
R6838:Gramd1a UTSW 7 30,833,929 (GRCm39) missense probably benign 0.30
R7034:Gramd1a UTSW 7 30,832,181 (GRCm39) critical splice donor site probably null
R7036:Gramd1a UTSW 7 30,832,181 (GRCm39) critical splice donor site probably null
R7867:Gramd1a UTSW 7 30,842,992 (GRCm39) missense probably damaging 1.00
R8729:Gramd1a UTSW 7 30,843,248 (GRCm39) missense possibly damaging 0.53
R8783:Gramd1a UTSW 7 30,832,220 (GRCm39) missense possibly damaging 0.50
R9147:Gramd1a UTSW 7 30,837,606 (GRCm39) unclassified probably benign
R9485:Gramd1a UTSW 7 30,829,963 (GRCm39) missense unknown
Z1186:Gramd1a UTSW 7 30,843,198 (GRCm39) missense possibly damaging 0.93
Posted On 2014-05-07