Incidental Mutation 'R5679:Dph6'
ID 442919
Institutional Source Beutler Lab
Gene Symbol Dph6
Ensembl Gene ENSMUSG00000057147
Gene Name diphthamine biosynthesis 6
Synonyms 5730421E18Rik, Atpbd4, Diphthine ammonia ligase
MMRRC Submission 043176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5679 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 114346897-114485445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114398422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 162 (I162V)
Ref Sequence ENSEMBL: ENSMUSP00000099601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028640] [ENSMUST00000055144] [ENSMUST00000102542]
AlphaFold Q9CQ28
Predicted Effect probably benign
Transcript: ENSMUST00000028640
AA Change: I162V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147
AA Change: I162V

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 189 3.7e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055144
AA Change: I162V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060730
Gene: ENSMUSG00000057147
AA Change: I162V

DomainStartEndE-ValueType
Pfam:Diphthami_syn_2 1 242 2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102542
AA Change: I162V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099601
Gene: ENSMUSG00000057147
AA Change: I162V

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 242 1.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150447
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 G A 11: 61,107,994 (GRCm39) R346Q probably benign Het
Bcat1 A T 6: 144,953,474 (GRCm39) F304L probably damaging Het
Ccdc178 T G 18: 22,200,486 (GRCm39) K439N probably benign Het
Cdkn2a T C 4: 89,195,098 (GRCm39) D84G possibly damaging Het
Chst8 T A 7: 34,374,729 (GRCm39) H370L probably damaging Het
Dimt1 A G 13: 107,084,108 (GRCm39) T32A possibly damaging Het
E230025N22Rik C T 18: 36,818,435 (GRCm39) G465R possibly damaging Het
Fam3d T C 14: 8,349,305 (GRCm38) E215G probably damaging Het
Fbxw7 T A 3: 84,884,794 (GRCm39) N612K probably damaging Het
Gpr179 A G 11: 97,227,571 (GRCm39) V1528A probably benign Het
Gucy2g T A 19: 55,219,511 (GRCm39) K370N possibly damaging Het
Ipo13 A T 4: 117,752,029 (GRCm39) W903R probably damaging Het
Itgax T A 7: 127,734,162 (GRCm39) H311Q probably benign Het
Kmt2d T C 15: 98,752,153 (GRCm39) probably benign Het
Lox T C 18: 52,661,989 (GRCm39) N138S probably benign Het
Mre11a T A 9: 14,698,215 (GRCm39) I21N probably damaging Het
Ncan T G 8: 70,565,276 (GRCm39) Y217S probably damaging Het
Nfil3 A G 13: 53,122,527 (GRCm39) F126L possibly damaging Het
Nfu1 T C 6: 86,996,379 (GRCm39) V110A probably damaging Het
Or12e8 T C 2: 87,187,889 (GRCm39) F34L possibly damaging Het
Or5e1 A G 7: 108,354,203 (GRCm39) I47V probably damaging Het
Or5g9 A T 2: 85,552,390 (GRCm39) I214F probably damaging Het
Palld T C 8: 62,137,979 (GRCm39) Q592R possibly damaging Het
Pcdhac1 T A 18: 37,225,530 (GRCm39) L781Q probably damaging Het
Rcl1 A G 19: 29,098,658 (GRCm39) probably null Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Scrt1 T A 15: 76,403,262 (GRCm39) T243S unknown Het
Slc22a30 G T 19: 8,313,135 (GRCm39) T550K possibly damaging Het
Strc A G 2: 121,198,581 (GRCm39) S1437P probably benign Het
Tecpr1 T A 5: 144,144,241 (GRCm39) I654F possibly damaging Het
Tfcp2l1 A G 1: 118,596,377 (GRCm39) M371V probably benign Het
Vmn2r11 T C 5: 109,202,708 (GRCm39) N123S probably benign Het
Wdr81 T C 11: 75,343,749 (GRCm39) D506G probably damaging Het
Xylt1 A G 7: 117,242,877 (GRCm39) D640G probably damaging Het
Zfp148 T G 16: 33,316,156 (GRCm39) M276R probably damaging Het
Zfp329 G A 7: 12,543,958 (GRCm39) T522I 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
IGL01775:Dph6 APN 2 114,348,776 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TAACACACTCTCTGATGGGACTTTTC -3'
(R):5'- TGTTTAAAATCATGTTTCTGGGGAC -3'

Sequencing Primer
(F):5'- AGTATAACTTCATAGGAGATGCTCAC -3'
(R):5'- CAATCTCCAGCCTTTAGC -3'
Posted On 2016-11-09