Incidental Mutation 'IGL01761:Dph5'
| ID |
153557 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dph5
|
| Ensembl Gene |
ENSMUSG00000033554 |
| Gene Name |
diphthamide biosynthesis 5 |
| Synonyms |
2410012M04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
IGL01761
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
115681785-115728010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115693362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 93
(D93E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043342]
[ENSMUST00000106505]
[ENSMUST00000185098]
[ENSMUST00000189799]
[ENSMUST00000196804]
|
| AlphaFold |
Q9CWQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043342
AA Change: D93E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: D93E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
241 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106505
AA Change: D93E
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102114
Gene: ENSMUSG00000033554
AA Change: D93E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
138 |
3.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185098
AA Change: D93E
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139249
Gene: ENSMUSG00000033554
AA Change: D93E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
177 |
4.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189799
AA Change: D93E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: D93E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
241 |
7.7e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196804
AA Change: D93E
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142654
Gene: ENSMUSG00000033554
AA Change: D93E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
114 |
1e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
C |
17: 37,289,699 (GRCm39) |
T44A |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,523,300 (GRCm39) |
Q1212L |
possibly damaging |
Het |
| A530064D06Rik |
T |
C |
17: 48,460,127 (GRCm39) |
S190G |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,459 (GRCm39) |
H227R |
possibly damaging |
Het |
| Ace |
C |
A |
11: 105,870,319 (GRCm39) |
A826E |
possibly damaging |
Het |
| Amigo3 |
G |
A |
9: 107,930,601 (GRCm39) |
G8D |
possibly damaging |
Het |
| Angpt1 |
A |
T |
15: 42,339,863 (GRCm39) |
F283I |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,538 (GRCm39) |
L763P |
probably benign |
Het |
| Atr |
T |
C |
9: 95,833,501 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,958,912 (GRCm39) |
M506L |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,933 (GRCm39) |
|
probably benign |
Het |
| Dcaf17 |
T |
C |
2: 70,886,881 (GRCm39) |
S57P |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,426 (GRCm39) |
E33G |
possibly damaging |
Het |
| Fam193b |
G |
A |
13: 55,697,070 (GRCm39) |
T340I |
probably benign |
Het |
| Glod4 |
T |
C |
11: 76,134,428 (GRCm39) |
N15D |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Inpp5k |
A |
G |
11: 75,538,503 (GRCm39) |
E102G |
possibly damaging |
Het |
| Kif27 |
A |
T |
13: 58,485,459 (GRCm39) |
D500E |
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,379,448 (GRCm39) |
I15T |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,311,579 (GRCm39) |
R2633H |
possibly damaging |
Het |
| Lrp4 |
G |
A |
2: 91,312,326 (GRCm39) |
|
probably null |
Het |
| Lrrc3b |
A |
C |
14: 15,358,098 (GRCm38) |
N169K |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,384,186 (GRCm39) |
|
probably null |
Het |
| Myo9b |
G |
A |
8: 71,801,796 (GRCm39) |
S1307N |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,888 (GRCm39) |
P128T |
probably damaging |
Het |
| Or5p69 |
T |
G |
7: 107,967,525 (GRCm39) |
V276G |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,745,693 (GRCm39) |
M629L |
probably benign |
Het |
| Rergl |
C |
A |
6: 139,478,863 (GRCm39) |
V4F |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,897 (GRCm39) |
I188N |
probably damaging |
Het |
| Rgs3 |
G |
T |
4: 62,570,946 (GRCm39) |
|
probably benign |
Het |
| Rpl4 |
T |
A |
9: 64,082,221 (GRCm39) |
V40D |
probably damaging |
Het |
| Sox4 |
A |
T |
13: 29,136,790 (GRCm39) |
I72N |
possibly damaging |
Het |
| Syne1 |
A |
C |
10: 5,355,456 (GRCm39) |
V375G |
probably damaging |
Het |
| Tfrc |
G |
T |
16: 32,447,369 (GRCm39) |
D662Y |
probably damaging |
Het |
| Ubqln5 |
T |
C |
7: 103,777,634 (GRCm39) |
R397G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,695 (GRCm39) |
D257G |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,868 (GRCm39) |
N74Y |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,241,070 (GRCm39) |
I309N |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,725 (GRCm39) |
L17P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,373,163 (GRCm39) |
I142V |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,423,859 (GRCm39) |
I2680N |
unknown |
Het |
| Zbtb20 |
T |
C |
16: 43,431,024 (GRCm39) |
F512L |
possibly damaging |
Het |
|
| Other mutations in Dph5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02441:Dph5
|
APN |
3 |
115,720,390 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02852:Dph5
|
APN |
3 |
115,722,320 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0200:Dph5
|
UTSW |
3 |
115,722,352 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0463:Dph5
|
UTSW |
3 |
115,722,352 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0466:Dph5
|
UTSW |
3 |
115,722,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0707:Dph5
|
UTSW |
3 |
115,708,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4542:Dph5
|
UTSW |
3 |
115,722,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Dph5
|
UTSW |
3 |
115,693,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4932:Dph5
|
UTSW |
3 |
115,693,456 (GRCm39) |
missense |
probably benign |
|
|
R4950:Dph5
|
UTSW |
3 |
115,722,292 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6504:Dph5
|
UTSW |
3 |
115,720,452 (GRCm39) |
splice site |
probably null |
|
|
R6662:Dph5
|
UTSW |
3 |
115,722,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7431:Dph5
|
UTSW |
3 |
115,686,381 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7565:Dph5
|
UTSW |
3 |
115,686,446 (GRCm39) |
missense |
probably benign |
|
|
R7822:Dph5
|
UTSW |
3 |
115,693,399 (GRCm39) |
nonsense |
probably null |
|
|
R9485:Dph5
|
UTSW |
3 |
115,681,977 (GRCm39) |
intron |
probably benign |
|
|
R9539:Dph5
|
UTSW |
3 |
115,722,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Dph5
|
UTSW |
3 |
115,708,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation