Incidental Mutation 'R8545:Dph6'
ID 659575
Institutional Source Beutler Lab
Gene Symbol Dph6
Ensembl Gene ENSMUSG00000057147
Gene Name diphthamine biosynthesis 6
Synonyms 5730421E18Rik, Atpbd4, Diphthine ammonia ligase
MMRRC Submission 068510-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 114346897-114485445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114478248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 31 (A31V)
Ref Sequence ENSEMBL: ENSMUSP00000060730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028640] [ENSMUST00000055144] [ENSMUST00000102542]
AlphaFold Q9CQ28
Predicted Effect possibly damaging
Transcript: ENSMUST00000028640
AA Change: A31V

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147
AA Change: A31V

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 189 3.7e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000055144
AA Change: A31V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060730
Gene: ENSMUSG00000057147
AA Change: A31V

DomainStartEndE-ValueType
Pfam:Diphthami_syn_2 1 242 2e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102542
AA Change: A31V

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099601
Gene: ENSMUSG00000057147
AA Change: A31V

DomainStartEndE-ValueType
Pfam:ATP_bind_4 1 242 1.1e-49 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,236,794 (GRCm39) Y1779C probably damaging Het
Apc A G 18: 34,450,084 (GRCm39) N2293D possibly damaging Het
Arhgap30 T C 1: 171,234,998 (GRCm39) L488P probably damaging Het
Arhgap31 T A 16: 38,423,408 (GRCm39) Q886L probably damaging Het
Arhgef10 T G 8: 14,978,868 (GRCm39) V45G probably benign Het
Arhgef10 A G 8: 15,025,931 (GRCm39) T812A possibly damaging Het
Bbs2 T C 8: 94,813,352 (GRCm39) S246G probably benign Het
Cby3 T C 11: 50,250,243 (GRCm39) S150P probably benign Het
Cdc40 A G 10: 40,723,939 (GRCm39) V283A probably benign Het
Cox15 A T 19: 43,728,421 (GRCm39) V284E probably damaging Het
Cyp4a12b A T 4: 115,290,227 (GRCm39) H260L probably benign Het
Dsc2 G A 18: 20,167,722 (GRCm39) Q123* probably null Het
Eftud2 A G 11: 102,731,097 (GRCm39) F810S probably damaging Het
Erich3 A T 3: 154,467,996 (GRCm39) probably benign Het
Gm49368 T C 7: 127,679,433 (GRCm39) Y192H probably damaging Het
Herc1 T A 9: 66,279,257 (GRCm39) L55* probably null Het
Hgsnat T C 8: 26,445,707 (GRCm39) T396A probably benign Het
Il17rd T G 14: 26,813,886 (GRCm39) F55C probably damaging Het
Mad1l1 A C 5: 140,286,249 (GRCm39) M250R probably benign Het
Muc15 A T 2: 110,561,581 (GRCm39) K6* probably null Het
Muc2 A G 7: 141,306,130 (GRCm39) N273S unknown Het
Myh1 T A 11: 67,093,027 (GRCm39) Y78N probably benign Het
Pcdh20 T A 14: 88,706,601 (GRCm39) H233L probably damaging Het
Pcnx4 G A 12: 72,602,856 (GRCm39) A373T probably benign Het
Phf3 A T 1: 30,863,391 (GRCm39) M778K possibly damaging Het
Pigg A T 5: 108,489,726 (GRCm39) D644V probably damaging Het
Rnf148 A T 6: 23,654,570 (GRCm39) I142N probably damaging Het
Ryr1 T C 7: 28,704,239 (GRCm39) probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tapbp A G 17: 34,139,291 (GRCm39) M87V possibly damaging Het
Tbccd1 T C 16: 22,652,779 (GRCm39) Y114C probably benign Het
Tet1 A T 10: 62,648,718 (GRCm39) W1905R probably damaging Het
Tmem109 G A 19: 10,851,734 (GRCm39) R37* probably null Het
Wdfy4 T C 14: 32,800,258 (GRCm39) Y1802C probably benign Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zcchc4 G A 5: 52,976,741 (GRCm39) probably benign Het
Zfp646 T C 7: 127,484,662 (GRCm39) S1772P probably benign Het
Zfp820 A G 17: 22,038,438 (GRCm39) C297R 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
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
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'- GAACACTTGCATGCTTCACTG -3'
(R):5'- CCTTCATGGATTCTGAAAAGCC -3'

Sequencing Primer
(F):5'- TGCTTCACTGCATCTAAGAGAGC -3'
(R):5'- TTCTGAAAAGCCAAGTAGAAATGTG -3'
Posted On 2021-01-18