Incidental Mutation 'I2288:Gramd1b'
ID 7899
Institutional Source Beutler Lab
Gene Symbol Gramd1b
Ensembl Gene ENSMUSG00000040111
Gene Name GRAM domain containing 1B
Synonyms A930008A22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # I2288 (G3) of strain 633
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 40204529-40442679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40218101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 572 (I572V)
Ref Sequence ENSEMBL: ENSMUSP00000130050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000118159] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000211853] [ENSMUST00000165104] [ENSMUST00000216821]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045682
AA Change: I572V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: I572V

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: I388V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: I388V

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: I455V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: I455V

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: I424V

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: I424V

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: I182V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: I182V

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 possibly damaging
Transcript: ENSMUST00000211853
AA Change: I457V

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000165104
AA Change: I572V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: I572V

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: ENSMUST00000216821
AA Change: I428V

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1025 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 84.8%
Validation Efficiency 71% (138/195)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,174,677 (GRCm39) I696N probably damaging Het
Adgra1 T C 7: 139,432,495 (GRCm39) I111T probably damaging Het
Adgrv1 A G 13: 81,585,643 (GRCm39) L4607P probably damaging Het
Alppl2 A T 1: 87,015,898 (GRCm39) M284K possibly damaging Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arid2 T C 15: 96,267,392 (GRCm39) V624A possibly damaging Het
Babam1 G A 8: 71,850,467 (GRCm39) R32Q probably damaging Het
Camk1g C T 1: 193,033,414 (GRCm39) probably benign Homo
Cfap44 C A 16: 44,269,501 (GRCm39) Y1168* probably null Het
Clasp1 A G 1: 118,492,959 (GRCm39) H1168R probably benign Het
Crkl A G 16: 17,301,612 (GRCm39) T289A probably damaging Het
Dlec1 A G 9: 118,972,669 (GRCm39) D1464G probably damaging Het
Dmxl2 A T 9: 54,309,077 (GRCm39) H1891Q probably damaging Het
Dnah10 G A 5: 124,807,164 (GRCm39) A150T probably benign Het
Dnah8 A G 17: 30,882,428 (GRCm39) T667A probably benign Het
Fpr-rs3 A T 17: 20,844,757 (GRCm39) L128Q probably damaging Het
Fxn C T 19: 24,239,431 (GRCm39) probably benign Homo
Golgb1 A G 16: 36,718,904 (GRCm39) H270R probably benign Het
Iqch A T 9: 63,408,172 (GRCm39) I664K probably benign Het
Kcnn2 T A 18: 45,808,340 (GRCm39) probably benign Het
Lrp1b A T 2: 41,012,944 (GRCm39) I2001K probably damaging Het
Lrrc40 T A 3: 157,758,426 (GRCm39) I277K probably damaging Het
Myo1e A G 9: 70,249,379 (GRCm39) E493G possibly damaging Homo
Nrcam C A 12: 44,611,098 (GRCm39) H567Q probably benign Homo
Or52d3 T C 7: 104,229,593 (GRCm39) C247R probably damaging Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Homo
Or5w19 T A 2: 87,698,479 (GRCm39) I48N probably damaging Het
Parvg C A 15: 84,212,981 (GRCm39) probably benign Het
Ripk4 A G 16: 97,549,345 (GRCm39) V237A probably benign Het
Spam1 A G 6: 24,796,477 (GRCm39) I143V probably benign Het
Synj2 A G 17: 6,072,542 (GRCm39) probably benign Het
Taar4 A G 10: 23,836,818 (GRCm39) T143A probably benign Het
Ttc12 T A 9: 49,381,558 (GRCm39) M138L possibly damaging Het
Ttll9 A G 2: 152,814,259 (GRCm39) probably benign Het
Usp34 T A 11: 23,382,473 (GRCm39) probably benign Homo
Utrn A G 10: 12,297,384 (GRCm39) Y675H probably damaging Het
Other mutations in Gramd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Gramd1b APN 9 40,221,337 (GRCm39) missense probably damaging 0.97
IGL00575:Gramd1b APN 9 40,238,707 (GRCm39) splice site probably benign
IGL01596:Gramd1b APN 9 40,214,809 (GRCm39) missense probably damaging 1.00
IGL01810:Gramd1b APN 9 40,227,069 (GRCm39) missense probably damaging 1.00
IGL02148:Gramd1b APN 9 40,227,060 (GRCm39) missense probably damaging 1.00
IGL02206:Gramd1b APN 9 40,211,328 (GRCm39) missense probably benign 0.01
IGL02626:Gramd1b APN 9 40,209,306 (GRCm39) missense probably damaging 0.98
IGL02723:Gramd1b APN 9 40,218,127 (GRCm39) missense probably damaging 0.97
IGL03192:Gramd1b APN 9 40,218,097 (GRCm39) missense probably damaging 1.00
PIT4283001:Gramd1b UTSW 9 40,366,752 (GRCm39) missense probably benign 0.01
R0038:Gramd1b UTSW 9 40,228,822 (GRCm39) missense probably damaging 1.00
R0038:Gramd1b UTSW 9 40,228,822 (GRCm39) missense probably damaging 1.00
R0600:Gramd1b UTSW 9 40,219,651 (GRCm39) missense probably damaging 1.00
R1290:Gramd1b UTSW 9 40,228,117 (GRCm39) splice site probably null
R1637:Gramd1b UTSW 9 40,215,834 (GRCm39) splice site probably null
R1782:Gramd1b UTSW 9 40,324,633 (GRCm39) missense probably damaging 1.00
R1928:Gramd1b UTSW 9 40,217,765 (GRCm39) missense possibly damaging 0.70
R3620:Gramd1b UTSW 9 40,366,842 (GRCm39) missense probably benign 0.01
R3943:Gramd1b UTSW 9 40,442,340 (GRCm39) start codon destroyed probably null
R4613:Gramd1b UTSW 9 40,219,289 (GRCm39) missense probably damaging 1.00
R4740:Gramd1b UTSW 9 40,227,128 (GRCm39) splice site probably null
R4808:Gramd1b UTSW 9 40,215,645 (GRCm39) missense possibly damaging 0.58
R5407:Gramd1b UTSW 9 40,366,951 (GRCm39) missense probably damaging 0.97
R6209:Gramd1b UTSW 9 40,244,946 (GRCm39) missense probably damaging 1.00
R6797:Gramd1b UTSW 9 40,219,702 (GRCm39) missense probably benign 0.34
R7103:Gramd1b UTSW 9 40,312,902 (GRCm39) missense unknown
R7185:Gramd1b UTSW 9 40,244,859 (GRCm39) missense probably benign 0.03
R7352:Gramd1b UTSW 9 40,219,289 (GRCm39) missense probably damaging 1.00
R7409:Gramd1b UTSW 9 40,238,727 (GRCm39) missense probably damaging 1.00
R7561:Gramd1b UTSW 9 40,312,911 (GRCm39) missense unknown
R8272:Gramd1b UTSW 9 40,215,820 (GRCm39) missense probably benign 0.00
R8474:Gramd1b UTSW 9 40,287,207 (GRCm39) critical splice donor site probably null
R8690:Gramd1b UTSW 9 40,215,674 (GRCm39) missense probably damaging 1.00
R8818:Gramd1b UTSW 9 40,215,780 (GRCm39) missense probably benign 0.01
R9493:Gramd1b UTSW 9 40,217,689 (GRCm39) missense probably damaging 1.00
R9648:Gramd1b UTSW 9 40,244,793 (GRCm39) missense probably damaging 0.98
Posted On 2012-11-13