Incidental Mutation 'IGL02251:Dph6'
ID 286408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph6
Ensembl Gene ENSMUSG00000057147
Gene Name diphthamine biosynthesis 6
Synonyms 5730421E18Rik, Atpbd4, Diphthine ammonia ligase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02251
Quality Score
Status
Chromosome 2
Chromosomal Location 114346897-114485445 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 114366004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028640] [ENSMUST00000055144] [ENSMUST00000102542]
AlphaFold Q9CQ28
Predicted Effect probably null
Transcript: ENSMUST00000028640
SMART Domains Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 189 3.7e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000055144
SMART Domains Protein: ENSMUSP00000060730
Gene: ENSMUSG00000057147

DomainStartEndE-ValueType
Pfam:Diphthami_syn_2 1 242 2e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102542
SMART Domains Protein: ENSMUSP00000099601
Gene: ENSMUSG00000057147

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 242 1.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150447
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,840 (GRCm39) C1406R probably damaging Het
Acp2 T A 2: 91,038,678 (GRCm39) probably null Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arhgef11 C T 3: 87,590,854 (GRCm39) R32C probably damaging Het
Armc6 A T 8: 70,677,870 (GRCm39) L153* probably null Het
Btnl2 G T 17: 34,582,213 (GRCm39) G260* probably null Het
Ccnf A G 17: 24,445,513 (GRCm39) S551P probably benign Het
Cdh19 A G 1: 110,882,382 (GRCm39) S37P probably benign Het
Cntnap3 T A 13: 64,909,850 (GRCm39) T752S probably damaging Het
Crispld1 A G 1: 17,799,064 (GRCm39) M62V probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Dpp3 T G 19: 4,968,343 (GRCm39) H243P probably benign Het
Eif3j2 T A 18: 43,610,431 (GRCm39) K127N probably damaging Het
Esrp1 G A 4: 11,361,202 (GRCm39) R315C probably damaging Het
Gm973 A C 1: 59,621,582 (GRCm39) H574P probably benign Het
Gprasp1 G A X: 134,701,288 (GRCm39) V494I probably benign Het
Hbb-bh1 T A 7: 103,492,017 (GRCm39) K66* probably null Het
Hoxb9 T A 11: 96,165,651 (GRCm39) M240K probably damaging Het
Irf2 T C 8: 47,260,788 (GRCm39) probably null Het
Lgi4 A G 7: 30,766,688 (GRCm39) probably null Het
Mylk3 C T 8: 86,081,805 (GRCm39) V328M probably benign Het
Nf2 T C 11: 4,798,873 (GRCm39) E38G probably null Het
Or4k40 A C 2: 111,250,657 (GRCm39) L213R probably damaging Het
Or51l14 A T 7: 103,100,978 (GRCm39) K145* probably null Het
Pdpk1 A G 17: 24,298,612 (GRCm39) F346L probably damaging Het
Prex1 T C 2: 166,419,806 (GRCm39) Y1120C probably damaging Het
Rab3gap1 A G 1: 127,865,237 (GRCm39) T742A probably benign Het
Scai A T 2: 38,989,429 (GRCm39) D401E probably benign Het
Scd1 T C 19: 44,386,533 (GRCm39) H298R probably damaging Het
Shld2 T C 14: 33,990,235 (GRCm39) R224G probably benign Het
Slc45a1 A G 4: 150,723,176 (GRCm39) probably benign Het
Smim10l1 G T 6: 133,082,471 (GRCm39) R6L probably damaging Het
Spag5 T G 11: 78,210,860 (GRCm39) F921C probably damaging Het
Sun1 T C 5: 139,227,186 (GRCm39) S667P probably damaging Het
Tas2r124 A G 6: 132,732,524 (GRCm39) I278V probably benign Het
Thbs1 G A 2: 117,943,999 (GRCm39) D206N probably benign Het
Trim37 T A 11: 87,058,256 (GRCm39) probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn2r103 A G 17: 20,014,231 (GRCm39) N341S possibly damaging Het
Zmat3 A G 3: 32,399,732 (GRCm39) probably benign Het
Other mutations in Dph6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Dph6 APN 2 114,478,290 (GRCm39) missense probably damaging 0.99
IGL01687:Dph6 APN 2 114,475,259 (GRCm39) nonsense probably null
IGL01775:Dph6 APN 2 114,348,776 (GRCm39) splice site probably benign
grower UTSW 2 114,475,236 (GRCm39) missense probably damaging 1.00
R0049:Dph6 UTSW 2 114,353,525 (GRCm39) missense probably benign 0.09
R0049:Dph6 UTSW 2 114,353,525 (GRCm39) missense probably benign 0.09
R1142:Dph6 UTSW 2 114,478,260 (GRCm39) missense probably damaging 0.99
R1240:Dph6 UTSW 2 114,475,199 (GRCm39) splice site probably null
R3415:Dph6 UTSW 2 114,348,768 (GRCm39) missense probably benign 0.00
R5679:Dph6 UTSW 2 114,398,422 (GRCm39) missense probably benign 0.11
R7623:Dph6 UTSW 2 114,485,379 (GRCm39) start gained probably benign
R7723:Dph6 UTSW 2 114,475,236 (GRCm39) missense probably damaging 1.00
R8545:Dph6 UTSW 2 114,478,248 (GRCm39) missense probably damaging 1.00
R9179:Dph6 UTSW 2 114,353,591 (GRCm39) missense probably damaging 1.00
R9205:Dph6 UTSW 2 114,399,995 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16