Incidental Mutation 'R7922:Gramd4'
ID 648483
Institutional Source Beutler Lab
Gene Symbol Gramd4
Ensembl Gene ENSMUSG00000035900
Gene Name GRAM domain containing 4
Synonyms
MMRRC Submission 045969-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7922 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 86057695-86137634 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86131958 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 503 (H503Q)
Ref Sequence ENSEMBL: ENSMUSP00000086321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088931] [ENSMUST00000123349] [ENSMUST00000138134]
AlphaFold Q8CB44
Predicted Effect probably benign
Transcript: ENSMUST00000088931
AA Change: H503Q

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000086321
Gene: ENSMUSG00000035900
AA Change: H503Q

DomainStartEndE-ValueType
coiled coil region 132 190 N/A INTRINSIC
transmembrane domain 301 323 N/A INTRINSIC
transmembrane domain 400 422 N/A INTRINSIC
GRAM 500 578 8.41e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123349
SMART Domains Protein: ENSMUSP00000117468
Gene: ENSMUSG00000035900

DomainStartEndE-ValueType
coiled coil region 107 165 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138134
AA Change: H478Q

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120796
Gene: ENSMUSG00000035900
AA Change: H478Q

DomainStartEndE-ValueType
coiled coil region 107 165 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
GRAM 475 553 3.86e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,164,406 (GRCm38) T638M possibly damaging Het
4930546C10Rik A G 18: 68,949,996 (GRCm38) probably null Het
Abi3 A T 11: 95,832,793 (GRCm38) Y342N unknown Het
Adk G A 14: 21,318,043 (GRCm38) V195I probably benign Het
Ago2 C T 15: 73,126,526 (GRCm38) V268M possibly damaging Het
Apaf1 T C 10: 90,999,753 (GRCm38) I1077V probably benign Het
Arap1 A T 7: 101,404,414 (GRCm38) K1317* probably null Het
Auts2 T A 5: 131,440,373 (GRCm38) D493V Het
Baz1b A T 5: 135,231,679 (GRCm38) Q1110L probably damaging Het
Brsk2 T A 7: 141,993,220 (GRCm38) S467T possibly damaging Het
Btbd9 A T 17: 30,274,884 (GRCm38) M511K probably benign Het
Cdh23 T A 10: 60,382,706 (GRCm38) Y1385F probably benign Het
Cfap100 A C 6: 90,403,980 (GRCm38) L427V unknown Het
Cnga1 A G 5: 72,604,882 (GRCm38) F430L possibly damaging Het
Dnhd1 A T 7: 105,668,514 (GRCm38) D472V probably damaging Het
Dock2 T A 11: 34,707,327 (GRCm38) E339V probably benign Het
Eif3a A T 19: 60,775,842 (GRCm38) V379E probably damaging Het
Erich4 T A 7: 25,615,743 (GRCm38) N36Y probably damaging Het
Fam60a T A 6: 148,926,146 (GRCm38) T125S probably benign Het
Frem2 T C 3: 53,653,304 (GRCm38) T1261A probably damaging Het
Fzd6 A T 15: 39,031,108 (GRCm38) D223V probably damaging Het
Gabra2 A T 5: 71,007,972 (GRCm38) Y218* probably null Het
Gcn1l1 G T 5: 115,614,468 (GRCm38) M2177I probably benign Het
Ghr G A 15: 3,341,074 (GRCm38) T103I possibly damaging Het
Gipc1 T C 8: 83,661,228 (GRCm38) V79A probably benign Het
Gm10031 A T 1: 156,524,992 (GRCm38) L254F probably damaging Het
Gm13272 T A 4: 88,780,340 (GRCm38) V164D probably damaging Het
Gstm4 A T 3: 108,044,671 (GRCm38) M1K probably null Het
Heatr5b T A 17: 78,760,559 (GRCm38) Q1800L probably benign Het
Hectd1 T A 12: 51,790,195 (GRCm38) K826* probably null Het
Hoxa9 T C 6: 52,224,309 (GRCm38) I251V possibly damaging Het
Il2ra A T 2: 11,674,366 (GRCm38) I46F possibly damaging Het
Ints2 T A 11: 86,244,627 (GRCm38) R320S probably benign Het
Iscu G A 5: 113,774,349 (GRCm38) R60Q unknown Het
Iscu A T 5: 113,774,282 (GRCm38) N46I probably damaging Het
Kcnk3 A T 5: 30,588,531 (GRCm38) H72L probably damaging Het
Kmt2a T G 9: 44,842,860 (GRCm38) S1228R unknown Het
Mbl2 T A 19: 30,239,238 (GRCm38) L150Q probably damaging Het
Med13 A T 11: 86,271,005 (GRCm38) F2166Y probably damaging Het
Mterf4 A C 1: 93,301,553 (GRCm38) L246* probably null Het
Muc16 T C 9: 18,584,825 (GRCm38) Q6690R probably benign Het
Myh10 T A 11: 68,808,893 (GRCm38) L1722Q possibly damaging Het
Neurod2 T C 11: 98,327,628 (GRCm38) M237V probably benign Het
Olfml1 A G 7: 107,571,149 (GRCm38) Y81C probably damaging Het
Olfr735 A G 14: 50,346,415 (GRCm38) V9A probably benign Het
Pcdhga7 A T 18: 37,716,173 (GRCm38) N411I probably benign Het
Pcdhgb8 T C 18: 37,763,949 (GRCm38) F691L probably benign Het
Pik3c2a A G 7: 116,391,282 (GRCm38) V481A probably damaging Het
Pik3r6 A T 11: 68,533,875 (GRCm38) R435S probably benign Het
Pkd1l1 G A 11: 8,849,013 (GRCm38) H2250Y Het
Pkd1l1 A G 11: 8,909,857 (GRCm38) S1034P Het
Plcd1 C A 9: 119,074,652 (GRCm38) R400L possibly damaging Het
Ppp2r1a A G 17: 20,954,617 (GRCm38) T58A probably benign Het
Ppp5c T C 7: 17,027,800 (GRCm38) E5G possibly damaging Het
Pradc1 A C 6: 85,447,968 (GRCm38) F82L probably benign Het
Prkag3 A T 1: 74,741,257 (GRCm38) S416R probably benign Het
Rab3gap2 T C 1: 185,249,920 (GRCm38) C390R probably benign Het
Rhot1 A G 11: 80,265,803 (GRCm38) T655A probably benign Het
Rorc A G 3: 94,391,188 (GRCm38) I348V probably damaging Het
Ryr1 A T 7: 29,097,224 (GRCm38) V1051E probably benign Het
Sema5b GCAC GC 16: 35,658,256 (GRCm38) probably null Het
Serpinb3c G A 1: 107,272,014 (GRCm38) T259I probably damaging Het
Sh3gl1 A T 17: 56,019,438 (GRCm38) M70K probably damaging Het
Slc7a4 C T 16: 17,573,366 (GRCm38) V607I probably benign Het
Spop A T 11: 95,471,328 (GRCm38) N62Y probably damaging Het
Spout1 A G 2: 30,176,811 (GRCm38) F130S probably benign Het
Tab1 A G 15: 80,158,865 (GRCm38) H420R possibly damaging Het
Tecpr2 CA C 12: 110,932,642 (GRCm38) probably null Het
Tnxb G C 17: 34,714,603 (GRCm38) K2332N probably damaging Het
Togaram1 T C 12: 64,967,738 (GRCm38) Y588H probably damaging Het
Trim71 G A 9: 114,513,085 (GRCm38) R710C probably damaging Het
Tsen54 C T 11: 115,820,782 (GRCm38) Q342* probably null Het
Ube2r2 T A 4: 41,190,812 (GRCm38) N235K unknown Het
Utrn C A 10: 12,667,527 (GRCm38) K1792N possibly damaging Het
Vmn1r122 A G 7: 21,133,662 (GRCm38) I156T possibly damaging Het
Vmn1r94 T C 7: 20,167,711 (GRCm38) T223A possibly damaging Het
Vmn2r120 G A 17: 57,524,683 (GRCm38) R369W probably damaging Het
Vwa7 G T 17: 35,024,433 (GRCm38) A717S possibly damaging Het
Zc3h4 T A 7: 16,425,722 (GRCm38) C398S unknown Het
Zc3hc1 T A 6: 30,390,875 (GRCm38) E43V possibly damaging Het
Zfp101 A T 17: 33,381,537 (GRCm38) V415D possibly damaging Het
Zfp553 A G 7: 127,236,596 (GRCm38) H441R probably damaging Het
Other mutations in Gramd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983:Gramd4 APN 15 86,127,018 (GRCm38) missense probably damaging 0.97
Grasping UTSW 15 86,091,503 (GRCm38) missense probably damaging 0.99
R0053:Gramd4 UTSW 15 86,130,138 (GRCm38) splice site probably benign
R0622:Gramd4 UTSW 15 86,091,389 (GRCm38) missense probably damaging 1.00
R1401:Gramd4 UTSW 15 86,125,196 (GRCm38) missense probably damaging 1.00
R1741:Gramd4 UTSW 15 86,091,529 (GRCm38) splice site probably null
R1840:Gramd4 UTSW 15 86,130,192 (GRCm38) critical splice donor site probably null
R1968:Gramd4 UTSW 15 86,132,905 (GRCm38) missense probably damaging 1.00
R2909:Gramd4 UTSW 15 86,122,183 (GRCm38) nonsense probably null
R4345:Gramd4 UTSW 15 86,134,893 (GRCm38) missense probably damaging 1.00
R4431:Gramd4 UTSW 15 86,130,160 (GRCm38) missense probably damaging 1.00
R4832:Gramd4 UTSW 15 86,134,856 (GRCm38) missense probably benign
R5164:Gramd4 UTSW 15 86,100,831 (GRCm38) missense probably benign 0.16
R5216:Gramd4 UTSW 15 86,134,785 (GRCm38) critical splice acceptor site probably null
R5898:Gramd4 UTSW 15 86,100,784 (GRCm38) missense probably damaging 1.00
R5959:Gramd4 UTSW 15 86,127,557 (GRCm38) missense probably damaging 0.99
R6303:Gramd4 UTSW 15 86,134,919 (GRCm38) missense possibly damaging 0.72
R6304:Gramd4 UTSW 15 86,134,919 (GRCm38) missense possibly damaging 0.72
R6678:Gramd4 UTSW 15 86,091,504 (GRCm38) missense possibly damaging 0.52
R6678:Gramd4 UTSW 15 86,091,503 (GRCm38) missense probably damaging 0.99
R6980:Gramd4 UTSW 15 86,131,969 (GRCm38) missense probably benign 0.17
R7371:Gramd4 UTSW 15 86,135,406 (GRCm38) missense probably benign 0.04
R7557:Gramd4 UTSW 15 86,100,900 (GRCm38) nonsense probably null
R8874:Gramd4 UTSW 15 86,100,892 (GRCm38) missense probably damaging 0.97
R9127:Gramd4 UTSW 15 86,091,324 (GRCm38) missense probably benign 0.00
R9652:Gramd4 UTSW 15 86,131,959 (GRCm38) missense probably damaging 0.97
R9711:Gramd4 UTSW 15 86,130,550 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTGTCAGTTTGCAGCTGG -3'
(R):5'- ATGTCACCTCTCCTGTGAAGTAAG -3'

Sequencing Primer
(F):5'- AGGCCAGTGTGTCCCATAC -3'
(R):5'- CACCTCTCCTGTGAAGTAAGTTTGG -3'
Posted On 2020-09-15