Incidental Mutation 'IGL01775:Dph6'
ID 154106
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 # IGL01775
Quality Score
Status
Chromosome 2
Chromosomal Location 114346897-114485445 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 114348776 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 benign
Transcript: ENSMUST00000028640
SMART Domains Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147

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

DomainStartEndE-ValueType
Pfam:Diphthami_syn_2 1 242 2e-48 PFAM
Predicted Effect probably benign
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A T 11: 84,361,963 (GRCm39) L333Q probably damaging Het
Ablim3 A T 18: 61,949,989 (GRCm39) probably benign Het
Acsl6 T C 11: 54,236,826 (GRCm39) probably benign Het
Adra1b T A 11: 43,726,128 (GRCm39) D263V probably damaging Het
Aicda G A 6: 122,538,012 (GRCm39) V57M probably damaging Het
C2cd3 T C 7: 100,092,638 (GRCm39) W494R probably damaging Het
Ccnb1 T C 13: 100,920,017 (GRCm39) S165G probably benign Het
Cnot4 A T 6: 35,046,411 (GRCm39) probably benign Het
Emc3 A G 6: 113,508,296 (GRCm39) S50P possibly damaging Het
Fbxo45 A C 16: 32,052,093 (GRCm39) probably null Het
Gm14496 A T 2: 181,642,125 (GRCm39) T599S probably benign Het
Gspt1 T C 16: 11,041,159 (GRCm39) I535V possibly damaging Het
Hemk1 A G 9: 107,207,995 (GRCm39) I215T possibly damaging Het
Ighm A T 12: 113,386,087 (GRCm39) C88S unknown Het
Itih2 A C 2: 10,134,097 (GRCm39) D38E probably benign Het
Lat C A 7: 125,967,261 (GRCm39) V113L probably benign Het
Mical2 T A 7: 111,981,269 (GRCm39) F480L possibly damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Msh2 A T 17: 87,990,074 (GRCm39) N254I possibly damaging Het
Naglu T C 11: 100,964,921 (GRCm39) M336T probably damaging Het
Nhsl1 C T 10: 18,400,222 (GRCm39) R483C probably damaging Het
Nsmaf C T 4: 6,396,791 (GRCm39) E899K possibly damaging Het
Nup85 T C 11: 115,471,593 (GRCm39) Y181H probably damaging Het
Or52n2 A T 7: 104,542,499 (GRCm39) M112K possibly damaging Het
Or5m5 T C 2: 85,815,014 (GRCm39) S277P probably damaging Het
Or7g35 A T 9: 19,496,001 (GRCm39) Q56L probably benign Het
Or8g23 C A 9: 38,971,763 (GRCm39) L66F probably damaging Het
P2rx3 C T 2: 84,854,501 (GRCm39) R91H probably benign Het
Plag1 T C 4: 3,904,513 (GRCm39) D226G probably damaging Het
Pofut1 T A 2: 153,090,393 (GRCm39) F96I probably damaging Het
Prim1 A G 10: 127,865,112 (GRCm39) N399S probably benign Het
Prkd3 G T 17: 79,320,189 (GRCm39) T51K probably damaging Het
Ptprc T C 1: 137,992,497 (GRCm39) Y1210C probably damaging Het
Rbm43 A T 2: 51,815,460 (GRCm39) S254T probably damaging Het
Retsat G A 6: 72,584,300 (GRCm39) R528Q probably damaging Het
Rlig1 A T 10: 100,419,799 (GRCm39) L94Q probably benign Het
Rps8 C A 4: 117,012,249 (GRCm39) R56L probably benign Het
Samhd1 A T 2: 156,956,250 (GRCm39) probably benign Het
Sfxn1 T C 13: 54,259,758 (GRCm39) probably benign Het
Stk33 T A 7: 108,911,574 (GRCm39) E396D possibly damaging Het
Tcaim T C 9: 122,647,890 (GRCm39) V135A probably damaging Het
Thsd7b A G 1: 129,556,676 (GRCm39) D421G probably damaging Het
Unc80 A G 1: 66,640,215 (GRCm39) D1374G possibly damaging Het
Wnk2 C A 13: 49,224,586 (GRCm39) D232Y probably damaging Het
Zfand1 T C 3: 10,409,926 (GRCm39) T145A probably damaging 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
IGL02251:Dph6 APN 2 114,366,004 (GRCm39) critical splice donor site probably null
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 2014-02-04