Incidental Mutation 'R0038:Gramd1b'
ID18588
Institutional Source Beutler Lab
Gene Symbol Gramd1b
Ensembl Gene ENSMUSG00000040111
Gene NameGRAM domain containing 1B
SynonymsA930008A22Rik
MMRRC Submission 038332-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #R0038 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location40293233-40531383 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 40317526 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 252 (T252M)
Ref Sequence ENSEMBL: ENSMUSP00000130050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000118159] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000165104] [ENSMUST00000211853] [ENSMUST00000216821]
Predicted Effect probably damaging
Transcript: ENSMUST00000045682
AA Change: T252M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: T252M

DomainStartEndE-ValueType
low complexity region 31 49 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
low complexity region 123 141 N/A INTRINSIC
low complexity region 203 226 N/A INTRINSIC
GRAM 240 307 1.54e-28 SMART
low complexity region 375 385 N/A INTRINSIC
Pfam:DUF4782 519 667 1.6e-38 PFAM
low complexity region 696 710 N/A INTRINSIC
transmembrane domain 768 790 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118159
AA Change: T68M

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: T68M

DomainStartEndE-ValueType
low complexity region 19 42 N/A INTRINSIC
GRAM 56 123 1.54e-28 SMART
low complexity region 191 201 N/A INTRINSIC
low complexity region 512 526 N/A INTRINSIC
transmembrane domain 584 606 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119373
AA Change: T135M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: T135M

DomainStartEndE-ValueType
low complexity region 9 24 N/A INTRINSIC
low complexity region 86 101 N/A INTRINSIC
GRAM 126 193 1.54e-28 SMART
low complexity region 261 271 N/A INTRINSIC
low complexity region 582 596 N/A INTRINSIC
transmembrane domain 654 676 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121357
AA Change: T104M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: T104M

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 55 78 N/A INTRINSIC
GRAM 92 159 1.54e-28 SMART
low complexity region 227 237 N/A INTRINSIC
low complexity region 548 562 N/A INTRINSIC
transmembrane domain 620 642 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153029
Predicted Effect probably damaging
Transcript: ENSMUST00000165104
AA Change: T252M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: T252M

DomainStartEndE-ValueType
low complexity region 31 49 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
low complexity region 123 141 N/A INTRINSIC
low complexity region 203 226 N/A INTRINSIC
GRAM 240 307 1.54e-28 SMART
low complexity region 375 385 N/A INTRINSIC
low complexity region 696 710 N/A INTRINSIC
transmembrane domain 768 790 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000211853
AA Change: T137M

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216821
AA Change: T108M

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.2079 question?
Coding Region Coverage
  • 1x: 83.6%
  • 3x: 76.1%
  • 10x: 58.6%
  • 20x: 40.4%
Validation Efficiency 91% (67/74)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,886,102 probably benign Het
Ahnak2 T C 12: 112,774,462 T253A probably benign Het
Ankrd28 A T 14: 31,708,035 M892K probably damaging Het
Arhgef25 T C 10: 127,186,865 probably benign Het
Cldn8 A G 16: 88,563,034 M1T probably null Het
Clec11a A G 7: 44,306,482 probably benign Het
Ddx39 T C 8: 83,722,498 L305P probably damaging Het
Depdc5 A G 5: 32,868,853 E60G probably benign Het
Etl4 A T 2: 20,743,574 H39L probably damaging Het
Hcrtr2 A T 9: 76,259,681 S125T probably benign Het
Htr2a T G 14: 74,706,247 S422R probably benign Het
Kirrel3 T A 9: 34,911,770 probably null Het
Krtap9-5 G A 11: 99,948,602 C43Y possibly damaging Het
Lama2 T C 10: 26,986,797 D2990G probably benign Het
Ncor1 A G 11: 62,392,551 F437L probably damaging Het
Nlrp1b A G 11: 71,172,171 S685P possibly damaging Het
Oog4 T C 4: 143,438,944 D211G probably benign Het
Pcdh15 A T 10: 74,643,440 E723V possibly damaging Het
Pgm3 A T 9: 86,564,673 probably benign Het
Pnpla5 A G 15: 84,122,513 Y90H probably damaging Het
Polr1b C T 2: 129,115,668 R548* probably null Het
Rnf168 T C 16: 32,298,995 V458A probably benign Het
Rnf32 T C 5: 29,205,654 probably benign Het
Sclt1 T C 3: 41,629,508 probably benign Het
Serpina12 A G 12: 104,037,957 F139L probably damaging Het
Stag3 T A 5: 138,301,036 probably null Het
Stard5 T C 7: 83,636,743 probably benign Het
Suclg1 A G 6: 73,260,503 E77G probably benign Het
Ush2a G T 1: 188,626,612 G2112C probably benign Het
Zfp644 T G 5: 106,635,043 E1155A probably benign Het
Other mutations in Gramd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Gramd1b APN 9 40310041 missense probably damaging 0.97
IGL00575:Gramd1b APN 9 40327411 splice site probably benign
IGL01596:Gramd1b APN 9 40303513 missense probably damaging 1.00
IGL01810:Gramd1b APN 9 40315773 missense probably damaging 1.00
IGL02148:Gramd1b APN 9 40315764 missense probably damaging 1.00
IGL02206:Gramd1b APN 9 40300032 missense probably benign 0.01
IGL02626:Gramd1b APN 9 40298010 missense probably damaging 0.98
IGL02723:Gramd1b APN 9 40306831 missense probably damaging 0.97
IGL03192:Gramd1b APN 9 40306801 missense probably damaging 1.00
I2288:Gramd1b UTSW 9 40306805 missense probably damaging 0.97
PIT4283001:Gramd1b UTSW 9 40455456 missense probably benign 0.01
R0038:Gramd1b UTSW 9 40317526 missense probably damaging 1.00
R0600:Gramd1b UTSW 9 40308355 missense probably damaging 1.00
R1290:Gramd1b UTSW 9 40316821 intron probably null
R1637:Gramd1b UTSW 9 40304538 splice site probably null
R1782:Gramd1b UTSW 9 40413337 missense probably damaging 1.00
R1928:Gramd1b UTSW 9 40306469 missense possibly damaging 0.70
R3620:Gramd1b UTSW 9 40455546 missense probably benign 0.01
R3943:Gramd1b UTSW 9 40531044 start codon destroyed probably null
R4613:Gramd1b UTSW 9 40307993 missense probably damaging 1.00
R4740:Gramd1b UTSW 9 40315832 intron probably null
R4808:Gramd1b UTSW 9 40304349 missense possibly damaging 0.58
R5407:Gramd1b UTSW 9 40455655 missense probably damaging 0.97
R6209:Gramd1b UTSW 9 40333650 missense probably damaging 1.00
R6797:Gramd1b UTSW 9 40308406 missense probably benign 0.34
R7103:Gramd1b UTSW 9 40401606 missense unknown
R7185:Gramd1b UTSW 9 40333563 missense probably benign 0.03
R7352:Gramd1b UTSW 9 40307993 missense probably damaging 1.00
R7409:Gramd1b UTSW 9 40327431 missense probably damaging 1.00
R7561:Gramd1b UTSW 9 40401615 missense unknown
Posted On2013-03-25