Incidental Mutation 'R5927:Gramd1a'
ID 459944
Institutional Source Beutler Lab
Gene Symbol Gramd1a
Ensembl Gene ENSMUSG00000001248
Gene Name GRAM domain containing 1A
Synonyms 1300003M23Rik, D7Bwg0611e
MMRRC Submission 044122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R5927 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30829552-30855321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30839246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 221 (S221P)
Ref Sequence ENSEMBL: ENSMUSP00000140195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000185514] [ENSMUST00000186634] [ENSMUST00000186723] [ENSMUST00000187679]
AlphaFold Q8VEF1
Predicted Effect probably benign
Transcript: ENSMUST00000001280
AA Change: S221P

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: S221P

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: S221P

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: S221P

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 probably benign
Transcript: ENSMUST00000186634
AA Change: S221P

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
AA Change: S221P

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: S17P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188032
Predicted Effect probably benign
Transcript: ENSMUST00000206233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205298
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: ENSMUST00000202814
Meta Mutation Damage Score 0.0722 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T A 3: 153,644,745 (GRCm39) I60F probably damaging Het
Ankrd26 A G 6: 118,484,597 (GRCm39) probably null Het
Arhgdib A T 6: 136,901,136 (GRCm39) W198R probably damaging Het
Atad5 T A 11: 80,018,111 (GRCm39) I1354N probably damaging Het
Ccdc146 T A 5: 21,513,619 (GRCm39) K500* probably null Het
Cdk11b G A 4: 155,732,697 (GRCm39) probably benign Het
Cmip A T 8: 117,984,048 (GRCm39) T70S possibly damaging Het
Col22a1 G T 15: 71,878,815 (GRCm39) A114E probably damaging Het
Cpeb1 T C 7: 81,011,428 (GRCm39) D171G possibly damaging Het
Crebzf C T 7: 90,093,531 (GRCm39) probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
D630036H23Rik C A 12: 36,431,671 (GRCm39) probably benign Het
Dnah5 A T 15: 28,335,864 (GRCm39) T2277S probably benign Het
Dysf T A 6: 84,184,194 (GRCm39) F2083Y probably damaging Het
Elavl4 T A 4: 110,147,440 (GRCm39) probably benign Het
Elp3 A G 14: 65,819,626 (GRCm39) Y111H probably damaging Het
Eps8l2 A T 7: 140,936,259 (GRCm39) Q243L probably benign Het
Eri2 C A 7: 119,385,291 (GRCm39) L403F probably damaging Het
Fgfr4 T A 13: 55,314,700 (GRCm39) N614K probably damaging Het
Gm5108 T G 5: 68,134,214 (GRCm39) I74S unknown Het
Gpn1 T C 5: 31,658,235 (GRCm39) F130L probably damaging Het
Gpr176 T A 2: 118,203,521 (GRCm39) I50F probably benign Het
Hivep3 A G 4: 119,954,305 (GRCm39) T874A possibly damaging Het
Igkv12-40 A G 6: 69,856,383 (GRCm39) noncoding transcript Het
Itgb2 C A 10: 77,381,868 (GRCm39) P57T probably damaging Het
Kcmf1 T A 6: 72,819,988 (GRCm39) D286V possibly damaging Het
Kcnt1 T A 2: 25,799,388 (GRCm39) probably benign Het
Kif15 A G 9: 122,846,326 (GRCm39) S76G probably benign Het
Kpna3 C T 14: 61,622,096 (GRCm39) V223I probably damaging Het
Krt80 A G 15: 101,262,089 (GRCm39) probably benign Het
Lama4 A G 10: 38,948,808 (GRCm39) Y857C probably damaging Het
Lcorl G T 5: 45,882,766 (GRCm39) probably benign Het
Map4k3 A G 17: 80,921,348 (GRCm39) V528A probably benign Het
Mmp8 T A 9: 7,563,203 (GRCm39) N255K possibly damaging Het
Npat A T 9: 53,473,521 (GRCm39) K438* probably null Het
Or4a73 T A 2: 89,421,444 (GRCm39) N5I possibly damaging Het
P4htm T C 9: 108,474,582 (GRCm39) Y61C probably damaging Het
Pgap6 T C 17: 26,340,972 (GRCm39) Y692H probably benign Het
Polr3h G T 15: 81,801,480 (GRCm39) probably null Het
Prlr C T 15: 10,322,532 (GRCm39) T176I probably benign Het
Psme4 T G 11: 30,754,294 (GRCm39) F184V possibly damaging Het
Ptgfrn A T 3: 100,967,968 (GRCm39) F542I possibly damaging Het
Rock1 T C 18: 10,116,792 (GRCm39) E448G probably damaging Het
Rpf1 A T 3: 146,225,218 (GRCm39) probably null Het
Sectm1b T C 11: 120,946,500 (GRCm39) I132V probably benign Het
Sestd1 T A 2: 77,017,503 (GRCm39) H688L probably benign Het
Sidt2 T C 9: 45,855,752 (GRCm39) Y530C probably damaging Het
Sin3a A T 9: 57,018,395 (GRCm39) K938M probably damaging Het
Sin3b C A 8: 73,476,506 (GRCm39) R647S probably benign Het
Slc16a14 T C 1: 84,889,988 (GRCm39) H439R possibly damaging Het
Stc1 T C 14: 69,269,822 (GRCm39) V134A probably benign Het
Stk11ip G A 1: 75,501,335 (GRCm39) V24I possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Thra G A 11: 98,654,514 (GRCm39) V295I possibly damaging Het
Tnr T C 1: 159,740,336 (GRCm39) M1170T probably damaging Het
Tpcn2 T A 7: 144,832,521 (GRCm39) I112F probably damaging Het
Trdv2-2 T C 14: 54,198,998 (GRCm39) L96P probably damaging Het
Trim24 T A 6: 37,935,504 (GRCm39) W832R probably damaging Het
Usp4 T G 9: 108,268,959 (GRCm39) S891A probably benign Het
Vmn1r88 A T 7: 12,912,440 (GRCm39) R265S probably benign Het
Vmn2r118 A G 17: 55,931,494 (GRCm39) L60S probably benign Het
Wdr74 T C 19: 8,717,197 (GRCm39) C220R possibly damaging Het
Xpo1 A T 11: 23,218,653 (GRCm39) probably benign Het
Xpo1 A T 11: 23,218,656 (GRCm39) probably benign Het
Zfp850 C A 7: 27,689,620 (GRCm39) G196V 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
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'- CCAGGCTTTGCATAGTCACC -3'
(R):5'- AGCCAGAGCACTATGGACTTAG -3'

Sequencing Primer
(F):5'- AGGCTTTGCATAGTCACCTCATG -3'
(R):5'- CCAGAGCACTATGGACTTAGGAGTTC -3'
Posted On 2017-02-28