Incidental Mutation 'R8729:Gramd1a'
ID 662646
Institutional Source Beutler Lab
Gene Symbol Gramd1a
Ensembl Gene ENSMUSG00000001248
Gene Name GRAM domain containing 1A
Synonyms 1300003M23Rik, D7Bwg0611e
MMRRC Submission 068577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R8729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30843248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 20 (R20L)
Ref Sequence ENSEMBL: ENSMUSP00000001280 (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: R20L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: R20L

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: R20L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: R20L

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 unknown
Transcript: ENSMUST00000185514
AA Change: R20L
SMART Domains Protein: ENSMUSP00000139681
Gene: ENSMUSG00000001248
AA Change: R20L

DomainStartEndE-ValueType
low complexity region 8 39 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186634
AA Change: R20L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
AA Change: R20L

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
SMART Domains Protein: ENSMUSP00000139709
Gene: ENSMUSG00000001248
AA Change: R101L

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 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: ENSMUST00000206233
Predicted Effect probably benign
Transcript: ENSMUST00000206432
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,468,176 (GRCm39) Y148* probably null Het
Ank3 A G 10: 69,838,428 (GRCm39) D1812G possibly damaging Het
Ankrd17 C T 5: 90,443,452 (GRCm39) C405Y probably benign Het
Ankrd61 A G 5: 143,827,803 (GRCm39) Y391H probably benign Het
Calcb A C 7: 114,319,428 (GRCm39) E70A probably benign Het
Ccr1 T C 9: 123,763,831 (GRCm39) K233R probably benign Het
Ccz1 T C 5: 143,948,310 (GRCm39) D115G probably damaging Het
Col14a1 T A 15: 55,310,893 (GRCm39) L1203* probably null Het
Csmd2 G A 4: 128,356,638 (GRCm39) D1648N Het
Csn1s1 T C 5: 87,824,998 (GRCm39) probably null Het
Depp1 C A 6: 116,628,762 (GRCm39) P35H probably damaging Het
Eif2ak3 C A 6: 70,821,864 (GRCm39) P52Q probably benign Het
Galnt18 T C 7: 111,119,198 (GRCm39) E441G probably null Het
Gpat2 C A 2: 127,275,739 (GRCm39) Q506K probably damaging Het
Helz G T 11: 107,528,754 (GRCm39) probably null Het
Hif1a A G 12: 73,990,902 (GRCm39) N725D probably damaging Het
Ighv3-3 A T 12: 114,160,252 (GRCm39) W53R possibly damaging Het
Kat2a T C 11: 100,601,337 (GRCm39) K331R probably benign Het
Klk1b4 T A 7: 43,856,884 (GRCm39) F3I probably damaging Het
Krt78 T G 15: 101,855,455 (GRCm39) Q785H probably damaging Het
Lsm11 C T 11: 45,835,727 (GRCm39) E5K possibly damaging Het
Luzp2 A G 7: 54,816,985 (GRCm39) K145R probably damaging Het
Man2b2 T C 5: 36,973,462 (GRCm39) T506A probably benign Het
Msrb3 A C 10: 120,687,974 (GRCm39) C34G probably null Het
Muc16 T C 9: 18,571,346 (GRCm39) D391G unknown Het
Mybpc2 C T 7: 44,155,611 (GRCm39) V881M probably damaging Het
Myh15 A G 16: 48,881,851 (GRCm39) K31R probably damaging Het
Ndnf A T 6: 65,680,758 (GRCm39) K346* probably null Het
Nfs1 G A 2: 155,965,727 (GRCm39) T118I probably benign Het
Niban2 T A 2: 32,799,946 (GRCm39) L91Q probably damaging Het
Nlrp9c T G 7: 26,071,428 (GRCm39) K893N probably benign Het
Nmd3 A T 3: 69,655,682 (GRCm39) K454N possibly damaging Het
Or5ae1 T C 7: 84,565,523 (GRCm39) C179R probably damaging Het
Pcdhb9 C A 18: 37,535,639 (GRCm39) D544E possibly damaging Het
Pck1 A G 2: 172,997,866 (GRCm39) I312V probably damaging Het
Pkd2l2 G A 18: 34,566,354 (GRCm39) V522I probably benign Het
Polr3c C T 3: 96,634,796 (GRCm39) probably benign Het
Prkd2 T A 7: 16,583,052 (GRCm39) H271Q probably damaging Het
Rpp21 A G 17: 36,566,927 (GRCm39) S59P probably benign Het
Rxfp4 T A 3: 88,559,305 (GRCm39) N382I unknown Het
Sirt1 A G 10: 63,156,705 (GRCm39) F642L probably damaging Het
Sp2 T C 11: 96,852,099 (GRCm39) D275G possibly damaging Het
Speer4a3 A G 5: 26,158,178 (GRCm39) V58A probably damaging Het
Srp72 C T 5: 77,142,005 (GRCm39) T414I probably benign Het
Syne1 T A 10: 5,179,275 (GRCm39) M4400L probably benign Het
Tbx15 A T 3: 99,220,376 (GRCm39) H156L possibly damaging Het
Tbxas1 G T 6: 38,978,272 (GRCm39) M140I probably benign Het
Tcof1 G T 18: 60,962,145 (GRCm39) P695T unknown Het
Tmprss9 A T 10: 80,726,177 (GRCm39) M476L probably benign Het
Trat1 A T 16: 48,562,591 (GRCm39) I73N probably damaging Het
Trp53bp2 A T 1: 182,276,587 (GRCm39) E856V probably benign Het
Ttc28 T A 5: 111,383,509 (GRCm39) probably null Het
Ttn AC A 2: 76,749,528 (GRCm39) probably null Het
Twf1 T C 15: 94,479,212 (GRCm39) N216D probably benign Het
Unc80 C A 1: 66,647,649 (GRCm39) H1530N probably benign Het
Vmn1r235 A T 17: 21,481,875 (GRCm39) M67L probably benign Het
Vmn2r111 A T 17: 22,767,239 (GRCm39) Y753N probably damaging Het
Zkscan5 T A 5: 145,157,071 (GRCm39) N524K 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
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
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'- CCACCTTACTGTTGCGGATG -3'
(R):5'- AGGGATATTCAGGCCTGCTC -3'

Sequencing Primer
(F):5'- CACCTTACTGTTGCGGATGAAGTTC -3'
(R):5'- TCCATAAATGAGTGGACAGCTGC -3'
Posted On 2021-03-08