Incidental Mutation 'IGL02206:Gramd1b'
ID284468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gramd1b
Ensembl Gene ENSMUSG00000040111
Gene NameGRAM domain containing 1B
SynonymsA930008A22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL02206
Quality Score
Status
Chromosome9
Chromosomal Location40293233-40531383 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40300032 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 652 (T652A)
Ref Sequence ENSEMBL: ENSMUSP00000148890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000118159] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000165104] [ENSMUST00000211853] [ENSMUST00000216821]
Predicted Effect probably benign
Transcript: ENSMUST00000045682
AA Change: T796A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: T796A

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 benign
Transcript: ENSMUST00000118159
AA Change: T616A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: T616A

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 benign
Transcript: ENSMUST00000119373
AA Change: T679A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: T679A

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 benign
Transcript: ENSMUST00000121357
AA Change: T652A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: T652A

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 probably benign
Transcript: ENSMUST00000137454
AA Change: T406A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: T406A

DomainStartEndE-ValueType
Pfam:DUF4782 130 278 2.3e-39 PFAM
low complexity region 307 321 N/A INTRINSIC
transmembrane domain 379 401 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155265
Predicted Effect probably benign
Transcript: ENSMUST00000165104
AA Change: T796A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: T796A

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 probably benign
Transcript: ENSMUST00000211853
AA Change: T685A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000216821
AA Change: T652A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,260,747 K824* probably null Het
Acot12 A G 13: 91,759,987 D96G probably damaging Het
Acvr2b C T 9: 119,427,998 Q98* probably null Het
Aldh8a1 T C 10: 21,395,575 V400A probably benign Het
Aox1 C A 1: 58,065,340 H559N probably benign Het
Arhgef18 T A 8: 3,445,034 I431N probably benign Het
Atad5 A G 11: 80,094,183 D32G probably damaging Het
Cmtm8 T C 9: 114,843,899 H10R probably benign Het
Cnn1 T G 9: 22,104,378 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Defb23 C A 2: 152,464,535 E20* probably null Het
Dennd2a A T 6: 39,523,449 S61T probably damaging Het
Fam13a A T 6: 58,987,219 I76K probably benign Het
Fgd5 A G 6: 91,987,258 probably benign Het
Flt4 A T 11: 49,630,390 R409W probably damaging Het
Gm11397 A G 13: 33,404,199 T256A probably damaging Het
Grik1 C T 16: 87,935,920 G703D probably damaging Het
Impg2 A G 16: 56,259,597 E479G possibly damaging Het
Itpr1 A G 6: 108,549,820 N2743S probably damaging Het
Klc1 A G 12: 111,778,116 probably benign Het
Mb21d1 T C 9: 78,443,080 probably null Het
Ndufa9 G A 6: 126,844,403 R75* probably null Het
Neurl4 A G 11: 69,910,340 N1181S probably damaging Het
Olfr1431 T C 19: 12,210,460 I298T probably damaging Het
Phf1 A G 17: 26,936,869 probably benign Het
Pkhd1l1 T C 15: 44,512,849 I969T probably benign Het
Pprc1 G A 19: 46,071,751 R1538Q probably damaging Het
Rasd1 C T 11: 59,963,952 G234D possibly damaging Het
Rnf152 T C 1: 105,284,824 T3A probably benign Het
Rrh C T 3: 129,811,697 V115I probably benign Het
Rundc3a G T 11: 102,399,634 E217* probably null Het
Sae1 A T 7: 16,330,656 V306E possibly damaging Het
Serpinb7 T C 1: 107,435,372 S89P possibly damaging Het
Sgo2b T A 8: 63,941,084 T74S possibly damaging Het
Slc5a7 T C 17: 54,296,994 D48G probably damaging Het
Stn1 T C 19: 47,516,173 M177V possibly damaging Het
Tgm1 T C 14: 55,704,935 E653G possibly damaging Het
Thsd4 T C 9: 60,394,115 K299R probably benign Het
Ttc22 A G 4: 106,635,989 T278A probably damaging Het
Ubl4b G T 3: 107,554,825 Q40K possibly damaging Het
Zfp677 A G 17: 21,393,237 D31G probably damaging 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
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
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
Posted On2015-04-16