Incidental Mutation 'IGL02393:Dph7'
ID |
293896 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dph7
|
Ensembl Gene |
ENSMUSG00000026975 |
Gene Name |
diphthamine biosynethesis 7 |
Synonyms |
2810443J12Rik, Wdr85 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
IGL02393
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
24852412-24862175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 24856609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 187
(V187G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028350]
[ENSMUST00000028351]
[ENSMUST00000124383]
[ENSMUST00000126909]
[ENSMUST00000135339]
[ENSMUST00000143253]
[ENSMUST00000153375]
|
AlphaFold |
Q9CYU6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028350
|
SMART Domains |
Protein: ENSMUSP00000028350 Gene: ENSMUSG00000026974
Domain | Start | End | E-Value | Type |
Pfam:HNH_3
|
66 |
105 |
1.9e-10 |
PFAM |
Pfam:zf-MYND
|
167 |
212 |
1.2e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028351
AA Change: V187G
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000028351 Gene: ENSMUSG00000026975 AA Change: V187G
Domain | Start | End | E-Value | Type |
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126909
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135339
|
SMART Domains |
Protein: ENSMUSP00000142067 Gene: ENSMUSG00000026975
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143253
|
SMART Domains |
Protein: ENSMUSP00000142315 Gene: ENSMUSG00000026975
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146382
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153375
|
Coding Region Coverage |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
probably damaging |
Het |
|
Other mutations in Dph7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
R7443:Dph7
|
UTSW |
2 |
24,852,505 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |