Incidental Mutation 'IGL02251:Dph6'
ID286408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph6
Ensembl Gene ENSMUSG00000057147
Gene Namediphthamine biosynthesis 6
Synonyms5730421E18Rik, Atpbd4, Diphthine ammonia ligase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02251
Quality Score
Status
Chromosome2
Chromosomal Location114516416-114654964 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 114535523 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028640] [ENSMUST00000055144] [ENSMUST00000102542]
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: 45,977,416 C1406R probably damaging Het
Acp2 T A 2: 91,208,333 probably null Het
Antxr2 A C 5: 97,977,595 probably null Het
Arhgef11 C T 3: 87,683,547 R32C probably damaging Het
Armc6 A T 8: 70,225,220 L153* probably null Het
Btnl2 G T 17: 34,363,239 G260* probably null Het
Ccnf A G 17: 24,226,539 S551P probably benign Het
Cdh19 A G 1: 110,954,652 S37P probably benign Het
Cntnap3 T A 13: 64,762,036 T752S probably damaging Het
Crispld1 A G 1: 17,728,840 M62V probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dner G T 1: 84,384,026 Q621K probably damaging Het
Dpp3 T G 19: 4,918,315 H243P probably benign Het
Eif3j2 T A 18: 43,477,366 K127N probably damaging Het
Esrp1 G A 4: 11,361,202 R315C probably damaging Het
Fam35a T C 14: 34,268,278 R224G probably benign Het
Gm973 A C 1: 59,582,423 H574P probably benign Het
Gprasp1 G A X: 135,800,539 V494I probably benign Het
Hbb-bh1 T A 7: 103,842,810 K66* probably null Het
Hoxb9 T A 11: 96,274,825 M240K probably damaging Het
Irf2 T C 8: 46,807,753 probably null Het
Lgi4 A G 7: 31,067,263 probably null Het
Mylk3 C T 8: 85,355,176 V328M probably benign Het
Nf2 T C 11: 4,848,873 E38G probably null Het
Olfr1286 A C 2: 111,420,312 L213R probably damaging Het
Olfr606 A T 7: 103,451,771 K145* probably null Het
Pdpk1 A G 17: 24,079,638 F346L probably damaging Het
Prex1 T C 2: 166,577,886 Y1120C probably damaging Het
Rab3gap1 A G 1: 127,937,500 T742A probably benign Het
Scai A T 2: 39,099,417 D401E probably benign Het
Scd1 T C 19: 44,398,094 H298R probably damaging Het
Slc45a1 A G 4: 150,638,719 probably benign Het
Smim10l1 G T 6: 133,105,508 R6L probably damaging Het
Spag5 T G 11: 78,320,034 F921C probably damaging Het
Sun1 T C 5: 139,241,431 S667P probably damaging Het
Tas2r124 A G 6: 132,755,561 I278V probably benign Het
Thbs1 G A 2: 118,113,518 D206N probably benign Het
Trim37 T A 11: 87,167,430 probably benign Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn2r103 A G 17: 19,793,969 N341S possibly damaging Het
Zmat3 A G 3: 32,345,583 probably benign Het
Other mutations in Dph6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Dph6 APN 2 114647809 missense probably damaging 0.99
IGL01687:Dph6 APN 2 114644778 nonsense probably null
IGL01775:Dph6 APN 2 114518295 splice site probably benign
R0049:Dph6 UTSW 2 114523044 missense probably benign 0.09
R0049:Dph6 UTSW 2 114523044 missense probably benign 0.09
R1142:Dph6 UTSW 2 114647779 missense probably damaging 0.99
R1240:Dph6 UTSW 2 114644718 splice site probably null
R3415:Dph6 UTSW 2 114518287 missense probably benign 0.00
R5679:Dph6 UTSW 2 114567941 missense probably benign 0.11
R7623:Dph6 UTSW 2 114654898 start gained probably benign
R7723:Dph6 UTSW 2 114644755 missense probably damaging 1.00
Posted On2015-04-16