Incidental Mutation 'R5723:Gramd1a'
ID 452321
Institutional Source Beutler Lab
Gene Symbol Gramd1a
Ensembl Gene ENSMUSG00000001248
Gene Name GRAM domain containing 1A
Synonyms 1300003M23Rik, D7Bwg0611e
MMRRC Submission 043341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R5723 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30833908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 506 (W506R)
Ref Sequence ENSEMBL: ENSMUSP00000001280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000186634]
AlphaFold Q8VEF1
Predicted Effect probably damaging
Transcript: ENSMUST00000001280
AA Change: W506R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: W506R

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
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248

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: W68R
Predicted Effect probably benign
Transcript: ENSMUST00000206432
Predicted Effect probably benign
Transcript: ENSMUST00000206233
Predicted Effect probably benign
Transcript: ENSMUST00000220635
Meta Mutation Damage Score 0.9607 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,445 (GRCm39) D862G possibly damaging Het
Abcg2 C T 6: 58,655,336 (GRCm39) Q109* probably null Het
Acbd7 A G 2: 3,341,455 (GRCm39) Y33C probably damaging Het
Actl7a A G 4: 56,744,310 (GRCm39) D279G probably damaging Het
Akr1c18 A T 13: 4,194,328 (GRCm39) Y110* probably null Het
Akt1 T C 12: 112,623,704 (GRCm39) K276E probably damaging Het
Bcas2 A G 3: 103,084,608 (GRCm39) probably benign Het
C9 T A 15: 6,516,297 (GRCm39) Y367N probably damaging Het
Cd163 A G 6: 124,296,022 (GRCm39) T789A probably benign Het
Cers6 T A 2: 68,938,789 (GRCm39) S344T probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Crisp3 A C 17: 40,546,804 (GRCm39) V38G probably damaging Het
Cyp2b23 A G 7: 26,380,821 (GRCm39) F135L probably benign Het
Cyrib A T 15: 63,828,447 (GRCm39) probably null Het
Ddr2 A T 1: 169,816,089 (GRCm39) C539* probably null Het
Efna5 T A 17: 62,914,458 (GRCm39) D189V probably damaging Het
Endov G T 11: 119,390,675 (GRCm39) V70F probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem3 A T 8: 81,340,026 (GRCm39) H773L probably benign Het
Gm43302 T A 5: 105,365,352 (GRCm39) Q552L possibly damaging Het
Hmcn1 C T 1: 150,570,600 (GRCm39) V2188I possibly damaging Het
Ifit1bl2 A G 19: 34,597,458 (GRCm39) F53L probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Krt16 A G 11: 100,139,272 (GRCm39) Y149H probably damaging Het
Krtap5-2 A T 7: 141,728,742 (GRCm39) C313S unknown Het
Mreg A G 1: 72,201,527 (GRCm39) I155T probably damaging Het
Nans T C 4: 46,499,083 (GRCm39) F130S probably benign Het
Nox4 T C 7: 86,954,181 (GRCm39) probably benign Het
Or3a1d C A 11: 74,237,954 (GRCm39) W32L possibly damaging Het
Or52ad1 A T 7: 102,995,826 (GRCm39) M103K possibly damaging Het
Or56a3 C A 7: 104,740,309 (GRCm39) C179F probably damaging Het
Or5k15 A T 16: 58,709,976 (GRCm39) Y202* probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pkd1 A G 17: 24,784,497 (GRCm39) T348A probably benign Het
Poteg T C 8: 27,940,020 (GRCm39) probably null Het
Prom1 T G 5: 44,172,236 (GRCm39) N585T probably benign Het
Rfc1 T C 5: 65,434,769 (GRCm39) S666G probably null Het
Rilp A G 11: 75,403,687 (GRCm39) probably benign Het
Serpina3i A G 12: 104,231,759 (GRCm39) E132G probably benign Het
Serpina3m T C 12: 104,360,170 (GRCm39) V414A probably damaging Het
Sfrp4 T C 13: 19,807,868 (GRCm39) F89S probably damaging Het
Stat5a A G 11: 100,772,900 (GRCm39) H692R probably benign Het
Tex29 A T 8: 11,904,279 (GRCm39) probably benign Het
Tmc5 T A 7: 118,271,416 (GRCm39) F910I probably damaging Het
Tusc3 G A 8: 39,538,651 (GRCm39) G230D possibly damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Upb1 A T 10: 75,264,105 (GRCm39) I184F probably damaging Het
Vamp4 T C 1: 162,401,932 (GRCm39) F5L possibly damaging Het
Zfp583 C A 7: 6,326,674 (GRCm39) Q68H probably damaging Het
Zfp831 A C 2: 174,487,200 (GRCm39) H625P probably benign Het
Zfp941 G A 7: 140,392,763 (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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGCTTTTCTGCCTTGGCG -3'
(R):5'- GCCCCAAATCAATGGCAGTTATAG -3'

Sequencing Primer
(F):5'- CGAGTTCTCGATCTGAGGGAC -3'
(R):5'- GAGACCCCTAAAGTGTGATTTAAGTG -3'
Posted On 2017-01-03