Incidental Mutation 'IGL01627:Gramd1a'
ID 92794
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 # IGL01627
Quality Score
Status
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30839221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 229 (D229G)
Ref Sequence ENSEMBL: ENSMUSP00000140195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000185514] [ENSMUST00000186634] [ENSMUST00000186723] [ENSMUST00000187679]
AlphaFold Q8VEF1
Predicted Effect probably damaging
Transcript: ENSMUST00000001280
AA Change: D229G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: D229G

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: D229G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: D229G

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 probably benign
Transcript: ENSMUST00000185514
SMART Domains Protein: ENSMUSP00000139681
Gene: ENSMUSG00000001248

DomainStartEndE-ValueType
low complexity region 8 39 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185985
Predicted Effect probably damaging
Transcript: ENSMUST00000186634
AA Change: D229G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
AA Change: D229G

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 probably benign
Transcript: ENSMUST00000186723
SMART Domains Protein: ENSMUSP00000139709
Gene: ENSMUSG00000001248

DomainStartEndE-ValueType
low complexity region 89 120 N/A INTRINSIC
low complexity region 124 138 N/A INTRINSIC
Pfam:GRAM 174 208 1e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000206432
AA Change: D25G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205298
Predicted Effect probably benign
Transcript: ENSMUST00000206233
Predicted Effect probably benign
Transcript: ENSMUST00000187679
SMART Domains Protein: ENSMUSP00000140674
Gene: ENSMUSG00000001248

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
GRAM 52 119 8.9e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202814
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Casp9 T C 4: 141,532,853 (GRCm39) probably benign Het
Ccdc186 G A 19: 56,780,452 (GRCm39) T864I probably damaging Het
Cgas A T 9: 78,349,996 (GRCm39) V57E possibly damaging Het
Chek1 T A 9: 36,635,191 (GRCm39) H64L probably damaging Het
Chsy3 T C 18: 59,309,367 (GRCm39) S207P probably damaging Het
Clec4n A G 6: 123,221,433 (GRCm39) probably benign Het
Col9a1 G A 1: 24,218,689 (GRCm39) probably null Het
Dgkd A G 1: 87,808,150 (GRCm39) R73G probably damaging Het
Dmbt1 A T 7: 130,682,915 (GRCm39) T562S probably benign Het
Epb42 T C 2: 120,856,324 (GRCm39) T407A probably benign Het
Eps8l3 A G 3: 107,788,487 (GRCm39) D58G probably damaging Het
Fuca1 A T 4: 135,652,862 (GRCm39) N162I possibly damaging Het
Grin1 A G 2: 25,208,709 (GRCm39) S64P probably damaging Het
Hgd T G 16: 37,442,287 (GRCm39) V243G probably damaging Het
Il23r A T 6: 67,400,412 (GRCm39) N639K probably benign Het
Il33 A G 19: 29,929,390 (GRCm39) T38A possibly damaging Het
Mycbpap T C 11: 94,405,430 (GRCm39) E33G probably damaging Het
Npas1 C T 7: 16,199,111 (GRCm39) G148D probably damaging Het
Ntan1 C T 16: 13,652,603 (GRCm39) T233M probably benign Het
Or6c5 A T 10: 129,074,138 (GRCm39) N40I probably damaging Het
Plscr1l1 A T 9: 92,229,864 (GRCm39) I23F probably damaging Het
Pou2f1 A T 1: 165,708,002 (GRCm39) probably benign Het
Rims4 T C 2: 163,706,022 (GRCm39) Y204C probably damaging Het
Selp A G 1: 163,971,461 (GRCm39) probably null Het
Senp7 A G 16: 55,992,219 (GRCm39) E725G probably damaging Het
Snx31 A T 15: 36,517,818 (GRCm39) F366Y probably damaging Het
Spats2l A G 1: 57,941,241 (GRCm39) probably benign Het
Tssk4 T C 14: 55,888,010 (GRCm39) F69L probably damaging Het
Ugt3a1 T C 15: 9,335,806 (GRCm39) L9P probably damaging Het
Vmn2r76 A T 7: 85,874,871 (GRCm39) I702N probably damaging Het
Vps18 C A 2: 119,127,672 (GRCm39) R832S probably benign Het
Xpo6 A G 7: 125,748,506 (GRCm39) L375P probably damaging Het
Zfp462 C A 4: 55,008,912 (GRCm39) P293T possibly damaging Het
Zyg11b T C 4: 108,107,985 (GRCm39) I474V probably benign Het
Other mutations in Gramd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Gramd1a APN 7 30,841,993 (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
IGL02029:Gramd1a APN 7 30,832,249 (GRCm39) missense possibly damaging 0.95
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 2013-12-09