Incidental Mutation 'R1142:Dph6'
ID102141
Institutional Source Beutler Lab
Gene Symbol Dph6
Ensembl Gene ENSMUSG00000057147
Gene Namediphthamine biosynthesis 6
Synonyms5730421E18Rik, Atpbd4, Diphthine ammonia ligase
MMRRC Submission 039215-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock #R1142 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location114516416-114654964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114647779 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 27 (I27T)
Ref Sequence ENSEMBL: ENSMUSP00000099601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028640] [ENSMUST00000055144] [ENSMUST00000102542]
Predicted Effect probably damaging
Transcript: ENSMUST00000028640
AA Change: I27T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147
AA Change: I27T

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 189 3.7e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000055144
AA Change: I27T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060730
Gene: ENSMUSG00000057147
AA Change: I27T

DomainStartEndE-ValueType
Pfam:Diphthami_syn_2 1 242 2e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102542
AA Change: I27T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099601
Gene: ENSMUSG00000057147
AA Change: I27T

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 242 1.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150447
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A G 19: 40,551,213 S773P probably damaging Het
Alx3 T C 3: 107,600,664 F163S possibly damaging Het
Apobr A G 7: 126,587,482 M722V probably benign Het
Col6a5 A G 9: 105,934,317 S668P unknown Het
Cxadr A G 16: 78,334,839 T238A probably benign Het
Ephx3 G A 17: 32,185,274 H324Y probably benign Het
F830045P16Rik T A 2: 129,460,332 K447* probably null Het
Gjb3 G A 4: 127,326,431 R103W probably damaging Het
Hsp90ab1 C A 17: 45,568,974 E539* probably null Het
Jmjd1c T C 10: 67,225,345 L1159P probably damaging Het
Lamc3 T C 2: 31,940,721 I1490T probably damaging Het
Met T A 6: 17,527,183 C544* probably null Het
Pdlim3 C A 8: 45,918,961 R348S probably damaging Het
Phkg1 A G 5: 129,873,232 F101L possibly damaging Het
Polq A G 16: 37,013,217 M91V probably damaging Het
Slc38a9 T C 13: 112,714,210 I376T probably damaging Het
Tnc C T 4: 64,013,994 V728M probably damaging Het
Vmn1r85 T C 7: 13,084,554 N221S probably benign Het
Vmn2r91 T A 17: 18,136,443 W791R probably damaging Het
Zc3h13 T C 14: 75,315,984 Y284H 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
IGL02251:Dph6 APN 2 114535523 critical splice donor site probably null
R0049:Dph6 UTSW 2 114523044 missense probably benign 0.09
R0049:Dph6 UTSW 2 114523044 missense probably benign 0.09
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
Predicted Primers
Posted On2014-01-15