Incidental Mutation 'PIT4618001:Gramd1a'
ID 555698
Institutional Source Beutler Lab
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 # PIT4618001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30832021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 674 (V674A)
Ref Sequence ENSEMBL: ENSMUSP00000001280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000186634]
AlphaFold Q8VEF1
Predicted Effect probably benign
Transcript: ENSMUST00000001280
AA Change: V674A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: V674A

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: V640A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: V640A

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000206233
Predicted Effect probably benign
Transcript: ENSMUST00000206432
Predicted Effect
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 85.9%
  • 20x: 75.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A T 5: 107,693,575 (GRCm39) D64V probably damaging Het
Ankdd1a A C 9: 65,414,932 (GRCm39) I268S possibly damaging Het
Atad3a C T 4: 155,834,595 (GRCm39) R402Q probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Cd200l1 A G 16: 45,264,297 (GRCm39) F87S probably benign Het
Cd55 C T 1: 130,384,606 (GRCm39) V206I probably benign Het
Cd8a A G 6: 71,350,661 (GRCm39) D42G possibly damaging Het
Cemip G T 7: 83,593,147 (GRCm39) F1185L probably benign Het
Cfap58 A G 19: 47,963,953 (GRCm39) D527G probably damaging Het
Cyp2a12 C A 7: 26,734,198 (GRCm39) S377Y probably benign Het
Dapk2 A G 9: 66,175,968 (GRCm39) D289G probably benign Het
Efcab6 G A 15: 83,867,647 (GRCm39) A277V probably benign Het
Ephx2 A T 14: 66,339,671 (GRCm39) F250L probably damaging Het
Flg2 A T 3: 93,111,088 (GRCm39) S1039C unknown Het
Gtf2a1 A C 12: 91,534,543 (GRCm39) V237G probably benign Het
I830077J02Rik G A 3: 105,833,886 (GRCm39) T90M probably damaging Het
Jagn1 T A 6: 113,424,398 (GRCm39) L90H probably damaging Het
Mdn1 G T 4: 32,746,527 (GRCm39) A4158S probably benign Het
Myh11 G A 16: 14,018,930 (GRCm39) A1839V Het
Olr1 G A 6: 129,476,869 (GRCm39) A132V probably damaging Het
Paqr3 A T 5: 97,251,330 (GRCm39) H131Q possibly damaging Het
Pde4b A T 4: 102,460,009 (GRCm39) T397S probably benign Het
Pon1 A G 6: 5,168,349 (GRCm39) C353R probably damaging Het
Ppie G A 4: 123,032,661 (GRCm39) T43I probably null Het
Prr5l A G 2: 101,588,875 (GRCm39) F92L probably damaging Het
Rai14 T C 15: 10,575,242 (GRCm39) Y601C probably damaging Het
Rasal1 A G 5: 120,808,441 (GRCm39) D491G probably damaging Het
Rbm12b1 T A 4: 12,145,441 (GRCm39) V471E probably damaging Het
Rpusd2 T C 2: 118,868,933 (GRCm39) L452P possibly damaging Het
Scgb2b24 A T 7: 33,438,036 (GRCm39) C24S probably damaging Het
Slc17a5 C T 9: 78,445,530 (GRCm39) V468M possibly damaging Het
Tcp10c A G 17: 13,576,772 (GRCm39) K117R possibly damaging Het
Ubash3b A G 9: 40,927,923 (GRCm39) S584P probably benign Het
Vps13b C T 15: 35,709,386 (GRCm39) R1778C probably damaging Het
Ythdc2 A G 18: 44,967,665 (GRCm39) I220M probably benign Het
Zfp474 C A 18: 52,771,476 (GRCm39) T43K probably damaging Het
Zscan4-ps3 G A 7: 11,347,261 (GRCm39) M432I 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
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
Predicted Primers PCR Primer
(F):5'- GCCTGAAGGATGCTTTTCCAG -3'
(R):5'- ATACCTTTGAGTCCTGGCAC -3'

Sequencing Primer
(F):5'- AAGGATGCTTTTCCAGGATATGAGTC -3'
(R):5'- GGCACAGCCTGGCACTG -3'
Posted On 2019-06-07