Incidental Mutation 'R7443:Dph7'
ID 577067
Institutional Source Beutler Lab
Gene Symbol Dph7
Ensembl Gene ENSMUSG00000026975
Gene Name diphthamine biosynethesis 7
Synonyms 2810443J12Rik, Wdr85
MMRRC Submission 045519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R7443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 24852412-24862175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24852505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 5 (H5Q)
Ref Sequence ENSEMBL: ENSMUSP00000028351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028350] [ENSMUST00000028351] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000143253] [ENSMUST00000148042] [ENSMUST00000153375]
AlphaFold Q9CYU6
Predicted Effect probably benign
Transcript: ENSMUST00000028350
SMART Domains Protein: ENSMUSP00000028350
Gene: ENSMUSG00000026974

DomainStartEndE-ValueType
Pfam:HNH_3 66 105 1.9e-10 PFAM
Pfam:zf-MYND 167 212 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028351
AA Change: H5Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: H5Q

DomainStartEndE-ValueType
Blast:WD40 74 118 3e-10 BLAST
Blast:WD40 128 175 3e-15 BLAST
WD40 183 223 7.43e-1 SMART
WD40 227 267 1.08e-4 SMART
WD40 271 310 1.37e2 SMART
WD40 420 455 1.97e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124383
AA Change: H5Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000126909
AA Change: H5Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000135339
AA Change: H5Q
SMART Domains Protein: ENSMUSP00000142067
Gene: ENSMUSG00000026975
AA Change: H5Q

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000143253
AA Change: H5Q
SMART Domains Protein: ENSMUSP00000142315
Gene: ENSMUSG00000026975
AA Change: H5Q

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148042
SMART Domains Protein: ENSMUSP00000141788
Gene: ENSMUSG00000026974

DomainStartEndE-ValueType
Pfam:HNH_3 27 66 1.4e-10 PFAM
Pfam:zf-MYND 124 173 5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153375
AA Change: H5Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,452,951 (GRCm39) I162T probably damaging Het
Acaca G A 11: 84,206,619 (GRCm39) S1493N probably benign Het
Arf2 T A 11: 103,859,976 (GRCm39) M18K probably benign Het
Bag5 A G 12: 111,677,161 (GRCm39) S221P probably damaging Het
Bcr T C 10: 74,978,968 (GRCm39) probably null Het
Btg2 T A 1: 134,005,433 (GRCm39) K51* probably null Het
Chrne A G 11: 70,509,092 (GRCm39) V130A probably benign Het
Cracd T C 5: 77,004,485 (GRCm39) V282A unknown Het
Cubn T A 2: 13,460,320 (GRCm39) D714V probably damaging Het
Cyp4a29 A T 4: 115,105,756 (GRCm39) I153F probably damaging Het
Epha6 T C 16: 59,595,988 (GRCm39) N901S possibly damaging Het
Exosc9 C A 3: 36,607,990 (GRCm39) P66Q probably damaging Het
Foxn3 T C 12: 99,355,038 (GRCm39) D42G possibly damaging Het
Gbp11 A G 5: 105,478,816 (GRCm39) probably null Het
Gm3264 A T 14: 16,058,304 (GRCm39) Y37F probably damaging Het
H2-M10.2 T A 17: 36,596,945 (GRCm39) I44F probably benign Het
Hemgn A T 4: 46,396,145 (GRCm39) F364I probably damaging Het
Hnf4a A G 2: 163,400,932 (GRCm39) I184V probably benign Het
Ighe G T 12: 113,235,785 (GRCm39) C180* probably null Het
Iigp1c A T 18: 60,379,122 (GRCm39) N219I probably benign Het
Klk1b22 T A 7: 43,765,534 (GRCm39) I162K probably benign Het
Lmo3 C T 6: 138,354,220 (GRCm39) A104T probably damaging Het
Lsm14a A G 7: 34,053,263 (GRCm39) V263A probably benign Het
Ltbp1 T C 17: 75,671,432 (GRCm39) Y1538H probably damaging Het
Ly6g6g T C 15: 74,647,249 (GRCm39) E32G Het
Map9 A G 3: 82,278,663 (GRCm39) E221G possibly damaging Het
Mccc2 G A 13: 100,130,144 (GRCm39) A71V possibly damaging Het
Mdc1 T A 17: 36,161,712 (GRCm39) V875E probably damaging Het
Mier2 A T 10: 79,376,289 (GRCm39) I212N unknown Het
Mitd1 T C 1: 37,920,117 (GRCm39) T164A probably benign Het
Myh1 T C 11: 67,111,331 (GRCm39) I1590T probably benign Het
Mylk2 T G 2: 152,753,346 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,652 (GRCm39) V118E probably benign Het
Nynrin G A 14: 56,108,873 (GRCm39) V1327I probably benign Het
Oas1c C A 5: 120,943,484 (GRCm39) K218N probably damaging Het
Or11g24 A G 14: 50,662,507 (GRCm39) D177G probably damaging Het
Or13a18 A G 7: 140,190,961 (GRCm39) N286S probably damaging Het
Or1e23 A T 11: 73,407,674 (GRCm39) V117D possibly damaging Het
Or4a80 T A 2: 89,582,285 (GRCm39) M296L probably benign Het
Or5g26 T A 2: 85,493,912 (GRCm39) I289F probably damaging Het
Or5h17 T A 16: 58,820,353 (GRCm39) F102I probably damaging Het
Otoa A T 7: 120,731,633 (GRCm39) M618L probably benign Het
P3r3urf G A 4: 116,030,664 (GRCm39) G23R probably benign Het
Plcg2 A T 8: 118,231,028 (GRCm39) T37S probably benign Het
Plekhg4 T C 8: 106,107,499 (GRCm39) L1010P probably damaging Het
Plxnb1 T C 9: 108,943,675 (GRCm39) F1921L probably damaging Het
Prss47 T A 13: 65,197,303 (GRCm39) K144N probably damaging Het
Rapgef2 T C 3: 78,988,531 (GRCm39) K953E probably damaging Het
Rasip1 T A 7: 45,288,148 (GRCm39) I909N probably damaging Het
Rps5 A G 7: 12,656,922 (GRCm39) T8A probably benign Het
Rsbn1l T C 5: 21,132,621 (GRCm39) K213E possibly damaging Het
Serpinb5 T C 1: 106,809,700 (GRCm39) F369L probably benign Het
Slc4a5 T C 6: 83,241,297 (GRCm39) V306A probably benign Het
Sox13 T C 1: 133,312,369 (GRCm39) Y465C probably damaging Het
Sox13 C A 1: 133,312,311 (GRCm39) K484N probably damaging Het
Stx3 A G 19: 11,769,208 (GRCm39) I39T possibly damaging Het
Tbc1d5 T C 17: 51,273,763 (GRCm39) Y116C probably damaging Het
Tcp11l1 T A 2: 104,514,480 (GRCm39) Q429L probably benign Het
Tns3 G A 11: 8,401,442 (GRCm39) T952I probably benign Het
Trib3 T C 2: 152,181,692 (GRCm39) H176R possibly damaging Het
Trim12a A G 7: 103,950,049 (GRCm39) Y297H probably damaging Het
Unc13a A G 8: 72,083,603 (GRCm39) V1577A probably damaging Het
Vezf1 C A 11: 87,965,489 (GRCm39) P244T probably damaging Het
Vmn1r121 T A 7: 20,831,945 (GRCm39) D165V probably damaging Het
Vmn2r117 T A 17: 23,679,107 (GRCm39) I706F probably benign Het
Vmn2r117 C T 17: 23,679,319 (GRCm39) C635Y probably damaging Het
Vmn2r13 T A 5: 109,339,909 (GRCm39) H22L probably benign Het
Vmn2r87 A T 10: 130,308,588 (GRCm39) M550K probably damaging Het
Wdr6 A G 9: 108,451,489 (GRCm39) L798P probably damaging Het
Wtap C T 17: 13,199,821 (GRCm39) G54D probably benign Het
Zfp827 A G 8: 79,917,047 (GRCm39) S541G Het
Zkscan3 A T 13: 21,572,608 (GRCm39) Y341* probably null Het
Other mutations in Dph7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00828:Dph7 APN 2 24,861,655 (GRCm39) missense probably benign 0.00
IGL01021:Dph7 APN 2 24,861,935 (GRCm39) splice site probably null
IGL01322:Dph7 APN 2 24,855,629 (GRCm39) missense possibly damaging 0.85
IGL02393:Dph7 APN 2 24,856,609 (GRCm39) missense possibly damaging 0.89
IGL03286:Dph7 APN 2 24,856,628 (GRCm39) missense probably damaging 1.00
R0614:Dph7 UTSW 2 24,858,968 (GRCm39) critical splice donor site probably null
R1169:Dph7 UTSW 2 24,856,583 (GRCm39) missense probably benign 0.06
R1696:Dph7 UTSW 2 24,859,692 (GRCm39) critical splice donor site probably null
R2000:Dph7 UTSW 2 24,861,653 (GRCm39) missense probably benign 0.03
R4274:Dph7 UTSW 2 24,853,512 (GRCm39) missense possibly damaging 0.66
R4738:Dph7 UTSW 2 24,853,143 (GRCm39) missense possibly damaging 0.91
R4740:Dph7 UTSW 2 24,853,143 (GRCm39) missense possibly damaging 0.91
R5475:Dph7 UTSW 2 24,858,969 (GRCm39) splice site probably null
R6019:Dph7 UTSW 2 24,853,552 (GRCm39) nonsense probably null
R6645:Dph7 UTSW 2 24,855,663 (GRCm39) missense probably benign 0.02
R7570:Dph7 UTSW 2 24,855,642 (GRCm39) missense probably damaging 1.00
R7920:Dph7 UTSW 2 24,861,624 (GRCm39) missense probably benign
R8135:Dph7 UTSW 2 24,859,556 (GRCm39) missense probably benign 0.02
R9134:Dph7 UTSW 2 24,861,720 (GRCm39) missense probably benign 0.02
R9448:Dph7 UTSW 2 24,861,952 (GRCm39) missense probably damaging 1.00
R9672:Dph7 UTSW 2 24,855,606 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- AGCTGGAAGGCTTCTACATC -3'
(R):5'- GAGGTTAGCAGTCCCTCTTCTC -3'

Sequencing Primer
(F):5'- AAGGCTTCTACATCTTTTTGAGGTC -3'
(R):5'- CCTGCCCCTGTTGCTTCAC -3'
Posted On 2019-10-07