Incidental Mutation 'R1741:Gramd4'
ID 200379
Institutional Source Beutler Lab
Gene Symbol Gramd4
Ensembl Gene ENSMUSG00000035900
Gene Name GRAM domain containing 4
Synonyms
MMRRC Submission 039773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1741 (G1)
Quality Score 167
Status Not validated
Chromosome 15
Chromosomal Location 85941896-86021835 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 85975730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088931] [ENSMUST00000123349] [ENSMUST00000138134]
AlphaFold Q8CB44
Predicted Effect probably null
Transcript: ENSMUST00000088931
SMART Domains Protein: ENSMUSP00000086321
Gene: ENSMUSG00000035900

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 noncoding transcript
Transcript: ENSMUST00000123474
Predicted Effect probably null
Transcript: ENSMUST00000138134
SMART Domains Protein: ENSMUSP00000120796
Gene: ENSMUSG00000035900

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159271
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,793,578 (GRCm39) N37S probably damaging Het
Acad10 T C 5: 121,785,899 (GRCm39) K230R probably damaging Het
Actl7a A G 4: 56,744,252 (GRCm39) N260D probably benign Het
Adam24 T C 8: 41,132,642 (GRCm39) Y37H probably benign Het
Ahcy G A 2: 154,906,154 (GRCm39) A229V probably benign Het
Ap3b2 A G 7: 81,117,347 (GRCm39) V563A possibly damaging Het
Bcl9l T A 9: 44,420,986 (GRCm39) M1427K probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Btg4 A T 9: 51,027,910 (GRCm39) I27L probably benign Het
Ccdc171 A G 4: 83,539,076 (GRCm39) Y366C probably damaging Het
Chd3 A G 11: 69,246,480 (GRCm39) Y1085H probably damaging Het
Cnot10 T C 9: 114,426,892 (GRCm39) D616G possibly damaging Het
Crlf1 C A 8: 70,953,556 (GRCm39) D243E probably damaging Het
Cyp2b23 A G 7: 26,372,502 (GRCm39) V371A possibly damaging Het
Dennd2a A G 6: 39,470,091 (GRCm39) S534P probably damaging Het
Eln A G 5: 134,758,038 (GRCm39) V185A unknown Het
Epor C T 9: 21,871,067 (GRCm39) G301D probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl21 A T 13: 56,684,915 (GRCm39) T340S probably benign Het
Fcgbpl1 G T 7: 27,857,279 (GRCm39) C2209F probably damaging Het
Fez1 T A 9: 36,755,029 (GRCm39) D9E probably damaging Het
Fsip2 T C 2: 82,820,256 (GRCm39) F5330L probably benign Het
Glis1 G A 4: 107,425,544 (GRCm39) R197Q probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr158 A G 2: 21,832,359 (GRCm39) N1153S probably benign Het
Hhatl T A 9: 121,618,125 (GRCm39) Y210F possibly damaging Het
Hltf T C 3: 20,140,352 (GRCm39) W422R probably damaging Het
Hspa5 T C 2: 34,662,704 (GRCm39) S87P possibly damaging Het
Il21 T C 3: 37,281,811 (GRCm39) H111R probably benign Het
Ip6k1 G A 9: 107,918,183 (GRCm39) G73S probably benign Het
Kdm5b A G 1: 134,545,755 (GRCm39) D972G possibly damaging Het
Kif21b C T 1: 136,083,880 (GRCm39) A709V probably damaging Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Lrrc14b A G 13: 74,511,705 (GRCm39) L125P probably damaging Het
Mapk8ip3 A G 17: 25,118,828 (GRCm39) S1169P probably damaging Het
Me3 A T 7: 89,501,041 (GRCm39) Y584F probably damaging Het
Mxra7 T G 11: 116,707,070 (GRCm39) probably null Het
Nf1 T C 11: 79,334,757 (GRCm39) S870P probably benign Het
Npr2 G A 4: 43,643,350 (GRCm39) G525S probably damaging Het
Nyap1 A T 5: 137,731,387 (GRCm39) S726T probably damaging Het
Padi4 A G 4: 140,473,481 (GRCm39) V652A probably damaging Het
Pclo A G 5: 14,726,524 (GRCm39) probably benign Het
Pgm1 G A 4: 99,822,062 (GRCm39) probably null Het
Piezo2 A G 18: 63,154,244 (GRCm39) S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpn3 A G 4: 57,254,922 (GRCm39) V154A probably damaging Het
Rassf4 T C 6: 116,616,450 (GRCm39) E287G probably damaging Het
Rnh1 C T 7: 140,743,936 (GRCm39) R174H probably benign Het
Scn9a T A 2: 66,317,938 (GRCm39) I1517F probably damaging Het
Sftpb C A 6: 72,282,797 (GRCm39) A90E probably benign Het
Slc39a14 T C 14: 70,556,193 (GRCm39) K61R probably damaging Het
Tmem132d A C 5: 127,861,922 (GRCm39) M733R probably benign Het
Tmem248 A G 5: 130,265,664 (GRCm39) I156V probably benign Het
Traf2 T C 2: 25,414,495 (GRCm39) D339G probably damaging Het
Trappc11 A G 8: 47,982,362 (GRCm39) probably null Het
Tuba8 T A 6: 121,199,727 (GRCm39) I137N possibly damaging Het
Txlnb A G 10: 17,714,695 (GRCm39) T376A probably damaging Het
Usp34 A G 11: 23,314,103 (GRCm39) T663A probably benign Het
Vmn2r26 T A 6: 124,038,431 (GRCm39) F669I probably damaging Het
Wdr95 G A 5: 149,518,861 (GRCm39) probably null Het
Wfdc8 T G 2: 164,450,789 (GRCm39) probably benign Het
Zfp64 A C 2: 168,768,238 (GRCm39) V458G probably benign Het
Zfp868 C T 8: 70,064,519 (GRCm39) G272D probably damaging Het
Other mutations in Gramd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983:Gramd4 APN 15 86,011,219 (GRCm39) missense probably damaging 0.97
Grasping UTSW 15 85,975,704 (GRCm39) missense probably damaging 0.99
R0053:Gramd4 UTSW 15 86,014,339 (GRCm39) splice site probably benign
R0622:Gramd4 UTSW 15 85,975,590 (GRCm39) missense probably damaging 1.00
R1401:Gramd4 UTSW 15 86,009,397 (GRCm39) missense probably damaging 1.00
R1840:Gramd4 UTSW 15 86,014,393 (GRCm39) critical splice donor site probably null
R1968:Gramd4 UTSW 15 86,017,106 (GRCm39) missense probably damaging 1.00
R2909:Gramd4 UTSW 15 86,006,384 (GRCm39) nonsense probably null
R4345:Gramd4 UTSW 15 86,019,094 (GRCm39) missense probably damaging 1.00
R4431:Gramd4 UTSW 15 86,014,361 (GRCm39) missense probably damaging 1.00
R4832:Gramd4 UTSW 15 86,019,057 (GRCm39) missense probably benign
R5164:Gramd4 UTSW 15 85,985,032 (GRCm39) missense probably benign 0.16
R5216:Gramd4 UTSW 15 86,018,986 (GRCm39) critical splice acceptor site probably null
R5898:Gramd4 UTSW 15 85,984,985 (GRCm39) missense probably damaging 1.00
R5959:Gramd4 UTSW 15 86,011,758 (GRCm39) missense probably damaging 0.99
R6303:Gramd4 UTSW 15 86,019,120 (GRCm39) missense possibly damaging 0.72
R6304:Gramd4 UTSW 15 86,019,120 (GRCm39) missense possibly damaging 0.72
R6678:Gramd4 UTSW 15 85,975,705 (GRCm39) missense possibly damaging 0.52
R6678:Gramd4 UTSW 15 85,975,704 (GRCm39) missense probably damaging 0.99
R6980:Gramd4 UTSW 15 86,016,170 (GRCm39) missense probably benign 0.17
R7371:Gramd4 UTSW 15 86,019,607 (GRCm39) missense probably benign 0.04
R7557:Gramd4 UTSW 15 85,985,101 (GRCm39) nonsense probably null
R7922:Gramd4 UTSW 15 86,016,159 (GRCm39) missense probably benign 0.07
R8874:Gramd4 UTSW 15 85,985,093 (GRCm39) missense probably damaging 0.97
R9127:Gramd4 UTSW 15 85,975,525 (GRCm39) missense probably benign 0.00
R9652:Gramd4 UTSW 15 86,016,160 (GRCm39) missense probably damaging 0.97
R9711:Gramd4 UTSW 15 86,014,751 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCTAAGTGCTCACCATCAGCC -3'
(R):5'- TGTACAGAAGTCCCACCTAGCCAAG -3'

Sequencing Primer
(F):5'- GCCTCAATATAGGGCTGGGAC -3'
(R):5'- ACCTAGCCAAGGGCCTG -3'
Posted On 2014-05-23