Incidental Mutation 'R7409:Gramd1b'
ID 574931
Institutional Source Beutler Lab
Gene Symbol Gramd1b
Ensembl Gene ENSMUSG00000040111
Gene Name GRAM domain containing 1B
Synonyms A930008A22Rik
MMRRC Submission 045490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R7409 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40204529-40442679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40238727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 225 (Q225R)
Ref Sequence ENSEMBL: ENSMUSP00000048126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000118159] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000165104] [ENSMUST00000211853] [ENSMUST00000216821]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045682
AA Change: Q225R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: Q225R

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 possibly damaging
Transcript: ENSMUST00000118159
AA Change: Q41R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: Q41R

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
SMART Domains Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: Q108R

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: Q77R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: Q77R

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 damaging
Transcript: ENSMUST00000165104
AA Change: Q225R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: Q225R

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 damaging
Transcript: ENSMUST00000211853
AA Change: Q110R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216821
AA Change: Q81R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (82/84)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,912,862 (GRCm39) A1329V probably benign Het
Aida A G 1: 183,099,809 (GRCm39) T215A probably benign Het
Alpk2 A G 18: 65,440,023 (GRCm39) S457P probably benign Het
Ap4b1 G A 3: 103,719,474 (GRCm39) V63I probably damaging Het
Apaf1 A G 10: 90,903,108 (GRCm39) V182A probably damaging Het
B4galnt4 G A 7: 140,646,916 (GRCm39) probably null Het
Bltp2 G T 11: 78,159,583 (GRCm39) R544L probably damaging Het
Cacna1a T G 8: 85,260,031 (GRCm39) D331E probably damaging Het
Carmil2 A G 8: 106,419,423 (GRCm39) probably null Het
Cdkn1b A T 6: 134,898,280 (GRCm39) Q133L probably benign Het
Cep192 G C 18: 67,967,874 (GRCm39) S786T possibly damaging Het
Cfap418 T A 4: 10,881,834 (GRCm39) C94S probably benign Het
Cfap97 G A 8: 46,645,733 (GRCm39) R537H probably benign Het
Clpx C G 9: 65,231,529 (GRCm39) A552G possibly damaging Het
Cryl1 G A 14: 57,523,842 (GRCm39) T240I probably damaging Het
Ddx60 C A 8: 62,411,612 (GRCm39) T488K probably benign Het
Dennd4b A G 3: 90,181,259 (GRCm39) H805R probably benign Het
Dnmbp T C 19: 43,878,996 (GRCm39) D25G unknown Het
Dysf A C 6: 84,126,664 (GRCm39) D1293A probably benign Het
Efl1 T C 7: 82,347,121 (GRCm39) L549P probably damaging Het
Eif5 T C 12: 111,506,697 (GRCm39) probably benign Het
Eva1c A G 16: 90,666,544 (GRCm39) K156E probably damaging Het
Fbxw10 T G 11: 62,767,606 (GRCm39) V814G possibly damaging Het
Gfap C T 11: 102,785,358 (GRCm39) R206Q probably benign Het
Gjb6 A T 14: 57,361,610 (GRCm39) L217* probably null Het
Gpatch11 T A 17: 79,146,595 (GRCm39) L80Q probably damaging Het
Gsdmc2 A G 15: 63,705,195 (GRCm39) S173P possibly damaging Het
Hars1 C G 18: 36,903,166 (GRCm39) R388P probably damaging Het
Ighm C T 12: 113,385,852 (GRCm39) R129H Het
Igsf9 A G 1: 172,322,841 (GRCm39) I602V probably benign Het
Inpp4b T G 8: 82,679,314 (GRCm39) probably null Het
Itch C A 2: 155,041,302 (GRCm39) T450K probably damaging Het
Kcnq1 T C 7: 142,663,152 (GRCm39) F20L unknown Het
Kmt2d G T 15: 98,753,235 (GRCm39) A153E probably damaging Het
Macf1 T A 4: 123,398,263 (GRCm39) N750I probably damaging Het
Marveld2 T A 13: 100,747,984 (GRCm39) H365L probably damaging Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Mettl8 A T 2: 70,803,687 (GRCm39) V200E probably damaging Het
Mrgbp T G 2: 180,227,135 (GRCm39) S157A possibly damaging Het
Mrps35 A G 6: 146,957,481 (GRCm39) T169A possibly damaging Het
Mycbp2 A T 14: 103,526,180 (GRCm39) Y551N probably damaging Het
Myo18b T C 5: 113,021,971 (GRCm39) R474G probably benign Het
Nfx1 T A 4: 41,021,830 (GRCm39) S979R possibly damaging Het
Nlrp1a T C 11: 71,013,634 (GRCm39) T539A probably benign Het
Oca2 T A 7: 56,064,145 (GRCm39) D713E probably benign Het
Omt2b A C 9: 78,235,894 (GRCm39) Y73S probably benign Het
Or10aa1 T A 1: 173,870,099 (GRCm39) H194Q probably benign Het
Or13a27 C T 7: 139,925,318 (GRCm39) V195I probably benign Het
Or6c38 A G 10: 128,929,081 (GRCm39) I254T probably damaging Het
Or6c69 A T 10: 129,748,120 (GRCm39) V9D possibly damaging Het
Pde11a G T 2: 75,836,328 (GRCm39) Q20K Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phrf1 C A 7: 140,839,205 (GRCm39) T800K unknown Het
Polr1f T G 12: 33,486,988 (GRCm39) C150W possibly damaging Het
Pramel4 T C 4: 143,795,061 (GRCm39) S486P probably benign Het
Proc T C 18: 32,260,513 (GRCm39) D204G probably benign Het
Rasgrp3 T A 17: 75,823,411 (GRCm39) I494N possibly damaging Het
Samm50 A G 15: 84,081,231 (GRCm39) D53G probably benign Het
Satb1 T C 17: 52,116,217 (GRCm39) D22G possibly damaging Het
Scarf2 T C 16: 17,624,918 (GRCm39) S658P probably damaging Het
Sfta2 T A 17: 35,925,410 (GRCm39) I29K unknown Het
Slc15a4 A T 5: 127,681,742 (GRCm39) S292T probably benign Het
Slc37a1 C T 17: 31,559,237 (GRCm39) T439I probably damaging Het
Slc4a9 C A 18: 36,663,858 (GRCm39) P294Q probably damaging Het
Slc52a3 T C 2: 151,846,086 (GRCm39) S16P probably damaging Het
Slc6a15 A G 10: 103,244,163 (GRCm39) I468V probably benign Het
Spag17 T C 3: 99,934,547 (GRCm39) S610P possibly damaging Het
Spag17 A T 3: 99,941,475 (GRCm39) D738V probably benign Het
Ssbp4 T C 8: 71,050,617 (GRCm39) R269G unknown Het
Tbl1xr1 A G 3: 22,257,354 (GRCm39) T406A possibly damaging Het
Tep1 A T 14: 51,104,312 (GRCm39) V194D possibly damaging Het
Thbs4 A T 13: 92,909,767 (GRCm39) C343* probably null Het
Tmed10 A T 12: 85,391,065 (GRCm39) S158T possibly damaging Het
Trbv3 T A 6: 41,025,524 (GRCm39) V38E probably damaging Het
Ttc6 T C 12: 57,743,772 (GRCm39) M1258T probably damaging Het
Ttn T C 2: 76,589,320 (GRCm39) D21281G probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn2r8 C A 5: 108,956,449 (GRCm39) E58* probably null Het
Vps13d C T 4: 144,867,824 (GRCm39) E2009K Het
Vps33b T C 7: 79,935,017 (GRCm39) I320T probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Ythdf1 T C 2: 180,553,786 (GRCm39) Y143C probably damaging Het
Zfp213 C T 17: 23,778,603 (GRCm39) probably null Het
Zfp219 A T 14: 52,244,570 (GRCm39) Y536* probably null 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
I2288:Gramd1b UTSW 9 40,218,101 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGCTGTAGAAGAGAACTACTG -3'
(R):5'- TGTCTTGTGAAAGGAGGACCC -3'

Sequencing Primer
(F):5'- CTGTAGAAGAGAACTACTGTGTCTG -3'
(R):5'- CTCCTGAGCATCGACATGGGAAG -3'
Posted On 2019-10-07