Incidental Mutation 'R7409:Gramd1b'
ID574931
Institutional Source Beutler Lab
Gene Symbol Gramd1b
Ensembl Gene ENSMUSG00000040111
Gene NameGRAM domain containing 1B
SynonymsA930008A22Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #R7409 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location40293233-40531383 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40327431 bp
ZygosityHeterozygous
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]
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)
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
2610301B20Rik T A 4: 10,881,834 C94S probably benign Het
2610507B11Rik G T 11: 78,268,757 R544L probably damaging Het
Adgrb2 C T 4: 130,019,069 A1329V probably benign Het
Aida A G 1: 183,318,874 T215A probably benign Het
Alpk2 A G 18: 65,306,952 S457P probably benign Het
Ap4b1 G A 3: 103,812,158 V63I probably damaging Het
Apaf1 A G 10: 91,067,246 V182A probably damaging Het
B4galnt4 G A 7: 141,067,003 probably null Het
Cacna1a T G 8: 84,533,402 D331E probably damaging Het
Carmil2 A G 8: 105,692,791 probably null Het
Cdkn1b A T 6: 134,921,317 Q133L probably benign Het
Cep192 G C 18: 67,834,803 S786T possibly damaging Het
Cfap97 G A 8: 46,192,696 R537H probably benign Het
Clpx C G 9: 65,324,247 A552G possibly damaging Het
Cryl1 G A 14: 57,286,385 T240I probably damaging Het
Ddx60 C A 8: 61,958,578 T488K probably benign Het
Dennd4b A G 3: 90,273,952 H805R probably benign Het
Dnmbp T C 19: 43,890,557 D25G unknown Het
Dysf A C 6: 84,149,682 D1293A probably benign Het
Efl1 T C 7: 82,697,913 L549P probably damaging Het
Eif5 T C 12: 111,540,263 probably benign Het
Eva1c A G 16: 90,869,656 K156E probably damaging Het
Fbxw10 T G 11: 62,876,780 V814G possibly damaging Het
Gfap C T 11: 102,894,532 R206Q probably benign Het
Gjb6 A T 14: 57,124,153 L217* probably null Het
Gpatch11 T A 17: 78,839,166 L80Q probably damaging Het
Gsdmc2 A G 15: 63,833,346 S173P possibly damaging Het
Hars C G 18: 36,770,113 R388P probably damaging Het
Ighm C T 12: 113,422,232 R129H Het
Igsf9 A G 1: 172,495,274 I602V probably benign Het
Inpp4b T G 8: 81,952,685 probably null Het
Itch C A 2: 155,199,382 T450K probably damaging Het
Kcnq1 T C 7: 143,109,415 F20L unknown Het
Kmt2d G T 15: 98,855,354 A153E probably damaging Het
Macf1 T A 4: 123,504,470 N750I probably damaging Het
Marveld2 T A 13: 100,611,476 H365L probably damaging Het
Med13l T A 5: 118,754,321 D1936E probably benign Het
Mettl8 A T 2: 70,973,343 V200E probably damaging Het
Mrgbp T G 2: 180,585,342 S157A possibly damaging Het
Mrps35 A G 6: 147,055,983 T169A possibly damaging Het
Mycbp2 A T 14: 103,288,744 Y551N probably damaging Het
Myo18b T C 5: 112,874,105 R474G probably benign Het
Nfx1 T A 4: 41,021,830 S979R possibly damaging Het
Nlrp1a T C 11: 71,122,808 T539A probably benign Het
Oca2 T A 7: 56,414,397 D713E probably benign Het
Olfr433 T A 1: 174,042,533 H194Q probably benign Het
Olfr60 C T 7: 140,345,405 V195I probably benign Het
Olfr768 A G 10: 129,093,212 I254T probably damaging Het
Olfr816 A T 10: 129,912,251 V9D possibly damaging Het
Omt2b A C 9: 78,328,612 Y73S probably benign Het
Pde11a G T 2: 76,005,984 Q20K Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 probably benign Het
Phrf1 C A 7: 141,259,292 T800K unknown Het
Pramel4 T C 4: 144,068,491 S486P probably benign Het
Proc T C 18: 32,127,460 D204G probably benign Het
Rasgrp3 T A 17: 75,516,416 I494N possibly damaging Het
Samm50 A G 15: 84,197,030 D53G probably benign Het
Satb1 T C 17: 51,809,189 D22G possibly damaging Het
Scarf2 T C 16: 17,807,054 S658P probably damaging Het
Sfta2 T A 17: 35,614,518 I29K unknown Het
Slc15a4 A T 5: 127,604,678 S292T probably benign Het
Slc37a1 C T 17: 31,340,263 T439I probably damaging Het
Slc4a9 C A 18: 36,530,805 P294Q probably damaging Het
Slc52a3 T C 2: 152,004,166 S16P probably damaging Het
Slc6a15 A G 10: 103,408,302 I468V probably benign Het
Spag17 T C 3: 100,027,231 S610P possibly damaging Het
Spag17 A T 3: 100,034,159 D738V probably benign Het
Ssbp4 T C 8: 70,597,967 R269G unknown Het
Tbl1xr1 A G 3: 22,203,190 T406A possibly damaging Het
Tep1 A T 14: 50,866,855 V194D possibly damaging Het
Thbs4 A T 13: 92,773,259 C343* probably null Het
Tmed10 A T 12: 85,344,291 S158T possibly damaging Het
Trbv3 T A 6: 41,048,590 V38E probably damaging Het
Ttc6 T C 12: 57,696,986 M1258T probably damaging Het
Ttn T C 2: 76,758,976 D21281G probably damaging Het
Twistnb T G 12: 33,436,989 C150W possibly damaging Het
Usp54 T C 14: 20,552,245 R1346G probably damaging Het
Vmn2r8 C A 5: 108,808,583 E58* probably null Het
Vps13d C T 4: 145,141,254 E2009K Het
Vps33b T C 7: 80,285,269 I320T probably damaging Het
Vwa8 A C 14: 78,982,234 probably null Het
Ythdf1 T C 2: 180,911,993 Y143C probably damaging Het
Zfp213 C T 17: 23,559,629 probably null Het
Zfp219 A T 14: 52,007,113 Y536* probably null 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
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
R7561:Gramd1b UTSW 9 40401615 missense unknown
Predicted Primers PCR Primer
(F):5'- TCCTGCTGTAGAAGAGAACTACTG -3'
(R):5'- TGTCTTGTGAAAGGAGGACCC -3'

Sequencing Primer
(F):5'- CTGTAGAAGAGAACTACTGTGTCTG -3'
(R):5'- CTCCTGAGCATCGACATGGGAAG -3'
Posted On2019-10-07