Incidental Mutation 'R7557:Gramd4'
ID 584856
Institutional Source Beutler Lab
Gene Symbol Gramd4
Ensembl Gene ENSMUSG00000035900
Gene Name GRAM domain containing 4
Synonyms
MMRRC Submission 045652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7557 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 85941896-86021835 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 85985101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 146 (Q146*)
Ref Sequence ENSEMBL: ENSMUSP00000086321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088931] [ENSMUST00000123349] [ENSMUST00000138134]
AlphaFold Q8CB44
Predicted Effect probably null
Transcript: ENSMUST00000088931
AA Change: Q146*
SMART Domains Protein: ENSMUSP00000086321
Gene: ENSMUSG00000035900
AA Change: Q146*

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 null
Transcript: ENSMUST00000123349
AA Change: Q121*
SMART Domains Protein: ENSMUSP00000117468
Gene: ENSMUSG00000035900
AA Change: Q121*

DomainStartEndE-ValueType
coiled coil region 107 165 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000138134
AA Change: Q121*
SMART Domains Protein: ENSMUSP00000120796
Gene: ENSMUSG00000035900
AA Change: Q121*

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: 99.6%
  • 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,044 (GRCm39) Q1078* probably null Het
Aatk T C 11: 119,900,256 (GRCm39) K1310R possibly damaging Het
Acaa2 C T 18: 74,928,230 (GRCm39) T153M possibly damaging Het
Add3 A G 19: 53,227,868 (GRCm39) T518A probably damaging Het
Cacnb4 T C 2: 52,359,579 (GRCm39) E143G probably damaging Het
Cd209a T A 8: 3,795,541 (GRCm39) T177S probably benign Het
Chp1 T A 2: 119,391,238 (GRCm39) Y32N probably damaging Het
Clcn3 T C 8: 61,390,402 (GRCm39) T180A probably damaging Het
Dctn2 C A 10: 127,114,273 (GRCm39) T373N probably benign Het
Dipk2a T C 9: 94,402,591 (GRCm39) D357G probably damaging Het
Ecpas A G 4: 58,849,691 (GRCm39) Y483H possibly damaging Het
Emb T A 13: 117,386,252 (GRCm39) N136K probably benign Het
Enpp2 A T 15: 54,773,536 (GRCm39) C62S probably damaging Het
Fbxo28 G T 1: 182,169,000 (GRCm39) A52E unknown Het
Gask1b A T 3: 79,793,915 (GRCm39) K128* probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Ggta1 T C 2: 35,292,548 (GRCm39) D253G probably damaging Het
Gps1 C T 11: 120,677,193 (GRCm39) A164V probably benign Het
Kcnh5 A T 12: 75,054,399 (GRCm39) M515K possibly damaging Het
Klrc3 T C 6: 129,616,107 (GRCm39) T203A probably damaging Het
Krt26 G T 11: 99,225,567 (GRCm39) R305S probably damaging Het
Lpin1 A G 12: 16,630,793 (GRCm39) V35A Het
Marf1 C T 16: 13,950,560 (GRCm39) R942H probably damaging Het
Mfhas1 T A 8: 36,056,758 (GRCm39) M411K possibly damaging Het
Mok A G 12: 110,774,833 (GRCm39) S330P probably benign Het
Msto1 A G 3: 88,817,435 (GRCm39) probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or10w1 T A 19: 13,632,390 (GRCm39) I199N possibly damaging Het
Pcdhgb4 T A 18: 37,855,847 (GRCm39) C747* probably null Het
Pih1d1 A G 7: 44,806,183 (GRCm39) T40A probably benign Het
Pih1d2 A T 9: 50,536,216 (GRCm39) E290D probably damaging Het
Plce1 A G 19: 38,753,848 (GRCm39) K1849E probably benign Het
Plekha5 T C 6: 140,372,271 (GRCm39) Y74H probably damaging Het
Pole T G 5: 110,460,860 (GRCm39) I1183S probably damaging Het
Ptgs1 T C 2: 36,135,223 (GRCm39) S396P possibly damaging Het
Rasa2 T C 9: 96,439,478 (GRCm39) E575G probably damaging Het
Sec22b A G 3: 97,808,674 (GRCm39) T5A probably damaging Het
Slc18a1 T A 8: 69,518,213 (GRCm39) D267V probably damaging Het
Smad5 T C 13: 56,875,282 (GRCm39) F157L probably benign Het
Tcea1 T A 1: 4,965,213 (GRCm39) C294* probably null Het
Tut7 T C 13: 59,936,280 (GRCm39) I1274V possibly damaging Het
Txndc15 T A 13: 55,865,767 (GRCm39) M77K probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,475 (GRCm39) V377D probably damaging Het
Vmn2r7 A G 3: 64,632,394 (GRCm39) Y23H probably benign Het
Vwa3a T A 7: 120,394,841 (GRCm39) M887K possibly damaging Het
Zbtb5 T C 4: 44,995,196 (GRCm39) N63D 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
R1741:Gramd4 UTSW 15 85,975,730 (GRCm39) splice site probably null
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
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'- ACCAACTGGAATCAGGCAAG -3'
(R):5'- ACGTTCAGAGGGAAATGTCAC -3'

Sequencing Primer
(F):5'- CAAGGCTGCTTCTGTGTGGTC -3'
(R):5'- AAGTCCATGTCTTGGTCCAAG -3'
Posted On 2019-10-17