Incidental Mutation 'IGL01986:Gramd1a'
ID 181910
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 # IGL01986
Quality Score
Status
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30833434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 610 (L610Q)
Ref Sequence ENSEMBL: ENSMUSP00000001280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000186634]
AlphaFold Q8VEF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000001280
AA Change: L610Q

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: L610Q

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 probably benign
Transcript: ENSMUST00000085636
AA Change: L576Q

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: L576Q

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: L172Q
Predicted Effect probably benign
Transcript: ENSMUST00000206432
Predicted Effect probably benign
Transcript: ENSMUST00000206233
Predicted Effect unknown
Transcript: ENSMUST00000220635
AA Change: L60Q
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,282,956 (GRCm39) I245F possibly damaging Het
Abca3 G A 17: 24,627,088 (GRCm39) G1263D probably damaging Het
Arap2 A T 5: 62,779,265 (GRCm39) S1442T probably damaging Het
Arl15 C A 13: 114,058,902 (GRCm39) S56R possibly damaging Het
Ccdc38 A T 10: 93,415,705 (GRCm39) N415Y probably damaging Het
Ccny G A 18: 9,377,817 (GRCm39) R81C probably damaging Het
Cracd T A 5: 77,006,457 (GRCm39) S939R unknown Het
Csmd3 T C 15: 47,522,591 (GRCm39) T2693A possibly damaging Het
Fancm C T 12: 65,173,429 (GRCm39) Q1914* probably null Het
Fcsk T C 8: 111,609,889 (GRCm39) T1042A probably benign Het
Gm18856 G A 13: 14,139,413 (GRCm39) probably benign Het
Hsd17b4 C A 18: 50,293,193 (GRCm39) probably benign Het
Hspa12a A G 19: 58,787,834 (GRCm39) S663P probably benign Het
Insr C T 8: 3,208,817 (GRCm39) V1215I probably damaging Het
Kdr A G 5: 76,113,519 (GRCm39) V783A probably benign Het
Klhl9 T C 4: 88,640,016 (GRCm39) D75G probably damaging Het
Lmntd1 A G 6: 145,365,533 (GRCm39) S53P probably damaging Het
Lrrc41 T A 4: 115,946,519 (GRCm39) F411L probably benign Het
Lyst G A 13: 13,950,212 (GRCm39) probably null Het
Mmp17 A G 5: 129,673,692 (GRCm39) H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 (GRCm38) R154Q probably damaging Het
Or10ag2 A G 2: 87,248,880 (GRCm39) I163V probably benign Het
Or2b4 A G 17: 38,116,957 (GRCm39) K307R probably damaging Het
Or4p21 C T 2: 88,276,839 (GRCm39) V148I probably benign Het
Or8s16 T C 15: 98,210,660 (GRCm39) Y257C probably damaging Het
Pcsk6 G A 7: 65,577,625 (GRCm39) R60H probably damaging Het
Polk T C 13: 96,620,331 (GRCm39) D623G probably benign Het
Rlf A T 4: 121,005,303 (GRCm39) C1226S probably damaging Het
Rpa2 C T 4: 132,499,191 (GRCm39) P87S probably benign Het
Rpa2 C T 4: 132,499,192 (GRCm39) P87L probably benign Het
Sema5a T C 15: 32,682,506 (GRCm39) probably benign Het
Sis A T 3: 72,852,545 (GRCm39) M529K probably damaging Het
Sspo T C 6: 48,460,237 (GRCm39) M3375T probably benign Het
Syne3 A T 12: 104,934,259 (GRCm39) L83Q probably damaging Het
Tec A T 5: 72,939,348 (GRCm39) Y222* probably null Het
Tfap2d C T 1: 19,189,383 (GRCm39) probably benign Het
Trak1 G A 9: 121,302,033 (GRCm39) A930T probably benign Het
Ugt2b34 G T 5: 87,049,111 (GRCm39) H305N probably benign Het
Vmn2r95 A G 17: 18,660,473 (GRCm39) N295S 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
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 2014-05-07