Incidental Mutation 'R1703:Gramd1a'
ID 189883
Institutional Source Beutler Lab
Gene Symbol Gramd1a
Ensembl Gene ENSMUSG00000001248
Gene Name GRAM domain containing 1A
Synonyms 1300003M23Rik, D7Bwg0611e
MMRRC Submission 039736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R1703 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30838959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 247 (V247M)
Ref Sequence ENSEMBL: ENSMUSP00000082778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000185514] [ENSMUST00000186634] [ENSMUST00000186723] [ENSMUST00000187679]
AlphaFold Q8VEF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000001280
AA Change: V247M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: V247M

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: V247M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: V247M

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 possibly damaging
Transcript: ENSMUST00000186634
AA Change: V247M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
AA Change: V247M

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: V43M
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188032
Predicted Effect probably benign
Transcript: ENSMUST00000206233
Predicted Effect probably benign
Transcript: ENSMUST00000202814
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
Meta Mutation Damage Score 0.0975 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 99% (86/87)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,945,431 (GRCm39) Y401* probably null Het
4932415M13Rik C A 17: 54,032,065 (GRCm39) noncoding transcript Het
Abtb3 A G 10: 85,223,248 (GRCm39) D19G unknown Het
Acoxl T A 2: 127,820,692 (GRCm39) S81R probably damaging Het
Adamtsl4 A G 3: 95,584,924 (GRCm39) C915R probably damaging Het
Adgra3 C T 5: 50,164,117 (GRCm39) M287I probably benign Het
Afg1l T G 10: 42,276,395 (GRCm39) D250A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Amfr T C 8: 94,700,871 (GRCm39) T530A probably benign Het
Ank2 C T 3: 126,723,415 (GRCm39) V971M probably damaging Het
App A G 16: 84,762,656 (GRCm39) S656P probably damaging Het
Arid5a T A 1: 36,358,656 (GRCm39) probably null Het
Asic5 T A 3: 81,907,029 (GRCm39) V60D possibly damaging Het
Atm G T 9: 53,412,000 (GRCm39) H1019N probably benign Het
Cep250 A G 2: 155,807,466 (GRCm39) K277R probably benign Het
Chrna7 C T 7: 62,749,255 (GRCm39) R409H probably damaging Het
Chrng A T 1: 87,138,628 (GRCm39) N419I possibly damaging Het
Ciao1 T C 2: 127,087,739 (GRCm39) S199G probably benign Het
Clstn2 A T 9: 97,340,290 (GRCm39) M694K possibly damaging Het
Cpeb2 A G 5: 43,391,181 (GRCm39) probably benign Het
Cyp2c69 T A 19: 39,864,810 (GRCm39) I223F probably benign Het
Dennd1b A T 1: 139,097,492 (GRCm39) probably null Het
Dnah17 A T 11: 117,917,575 (GRCm39) L4162Q probably damaging Het
Dnm1 T C 2: 32,213,463 (GRCm39) M506V probably benign Het
Ecsit A G 9: 21,986,107 (GRCm39) V173A probably damaging Het
Fam13b T C 18: 34,584,492 (GRCm39) probably null Het
Fgl2 T A 5: 21,577,730 (GRCm39) W6R possibly damaging Het
Galnt9 G A 5: 110,767,038 (GRCm39) R503H probably damaging Het
Grip2 A T 6: 91,754,379 (GRCm39) I632N probably damaging Het
Hspg2 T C 4: 137,286,462 (GRCm39) V3627A probably damaging Het
Ipo8 T C 6: 148,691,390 (GRCm39) Y660C probably benign Het
Isg15 T C 4: 156,284,265 (GRCm39) R88G possibly damaging Het
Itgb5 T A 16: 33,730,870 (GRCm39) D388E probably benign Het
Jhy T C 9: 40,856,133 (GRCm39) Y118C probably damaging Het
Kalrn G A 16: 34,025,696 (GRCm39) T931M probably damaging Het
Kif21a A G 15: 90,833,250 (GRCm39) probably null Het
Lama2 A T 10: 27,142,667 (GRCm39) Y604N probably damaging Het
Lrp3 T G 7: 34,912,586 (GRCm39) S34R possibly damaging Het
Lrrc37 C T 11: 103,431,700 (GRCm39) V1372I probably benign Het
Lyn T C 4: 3,738,867 (GRCm39) probably null Het
Mroh8 C T 2: 157,113,896 (GRCm39) V132I probably benign Het
Mthfd1l T C 10: 4,098,093 (GRCm39) F977L probably damaging Het
Nol8 C T 13: 49,820,933 (GRCm39) T912M possibly damaging Het
Nrxn1 A T 17: 90,515,845 (GRCm39) N169K probably damaging Het
Oplah A G 15: 76,180,867 (GRCm39) Y1279H probably benign Het
Or10ag56 T C 2: 87,139,754 (GRCm39) V207A probably benign Het
Or4c101 T A 2: 88,390,599 (GRCm39) M262K possibly damaging Het
Pcsk5 T C 19: 17,729,458 (GRCm39) N129S probably benign Het
Pcyt2 G T 11: 120,503,894 (GRCm39) P185T probably benign Het
Pdlim2 A G 14: 70,411,784 (GRCm39) probably null Het
Pgs1 T C 11: 117,905,554 (GRCm39) probably benign Het
Qprt A G 7: 126,707,343 (GRCm39) V251A probably benign Het
Rasal2 A C 1: 156,985,170 (GRCm39) L834R probably damaging Het
Reg1 T C 6: 78,405,432 (GRCm39) C161R probably damaging Het
Rp1 T A 1: 4,415,392 (GRCm39) I1907F probably damaging Het
S1pr5 T C 9: 21,155,346 (GRCm39) D360G possibly damaging Het
Sart3 C A 5: 113,890,280 (GRCm39) V482F probably benign Het
Scarf2 A G 16: 17,620,713 (GRCm39) E127G probably damaging Het
Serinc5 T C 13: 92,825,305 (GRCm39) S245P probably damaging Het
Serpinc1 G T 1: 160,821,087 (GRCm39) R57L probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sgca A T 11: 94,860,217 (GRCm39) L307M probably damaging Het
Slc7a9 C A 7: 35,154,000 (GRCm39) Q208K probably benign Het
Slfn10-ps C T 11: 82,920,869 (GRCm39) noncoding transcript Het
Spam1 A T 6: 24,796,256 (GRCm39) D69V probably damaging Het
Tanc1 A G 2: 59,673,365 (GRCm39) E1490G probably benign Het
Tbc1d22a G T 15: 86,123,416 (GRCm39) D150Y probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tlx1 A G 19: 45,144,443 (GRCm39) D55G possibly damaging Het
Tram2 G T 1: 21,074,458 (GRCm39) N241K probably damaging Het
Ttc23l T C 15: 10,523,744 (GRCm39) Y325C probably damaging Het
Ubac2 T A 14: 122,142,582 (GRCm39) S27T probably benign Het
Utrn G A 10: 12,603,473 (GRCm39) probably benign Het
Vnn3 A T 10: 23,741,828 (GRCm39) M378L probably benign Het
Vps18 T A 2: 119,119,538 (GRCm39) D6E probably benign Het
Xkr5 T A 8: 18,989,134 (GRCm39) I253F probably benign Het
Yeats4 A T 10: 117,051,628 (GRCm39) C210S probably benign Het
Zdhhc20 A G 14: 58,076,545 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AAGTCTGCCGTATTTGCCCGGTTC -3'
(R):5'- TGAAGACGAAGACTATGTCTGCCCC -3'

Sequencing Primer
(F):5'- GCATCTCATCCCTCTGCCAAG -3'
(R):5'- GCCCCTTGCAACTGAATG -3'
Posted On 2014-05-14