Incidental Mutation 'R6504:Dph5'
| ID |
526369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dph5
|
| Ensembl Gene |
ENSMUSG00000033554 |
| Gene Name |
diphthamide biosynthesis 5 |
| Synonyms |
2410012M04Rik |
| MMRRC Submission |
044636-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R6504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
115681785-115728010 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 115720452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043342]
[ENSMUST00000185098]
[ENSMUST00000189799]
|
| AlphaFold |
Q9CWQ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043342
|
| SMART Domains |
Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
241 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185098
|
| SMART Domains |
Protein: ENSMUSP00000139249
Gene: ENSMUSG00000033554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
177 |
4.7e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189799
|
| SMART Domains |
Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP_methylase
|
1 |
241 |
7.7e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,569 (GRCm39) |
T31A |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
| Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
| Elavl4 |
A |
T |
4: 110,112,579 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
| Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
| Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
| Ranbp3l |
T |
C |
15: 8,997,946 (GRCm39) |
F13L |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,129 (GRCm39) |
H527Q |
probably benign |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
| Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,874,815 (GRCm39) |
C535* |
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
| Vmn1r214 |
A |
T |
13: 23,219,610 (GRCm39) |
*368L |
probably null |
Het |
| Wif1 |
C |
G |
10: 120,870,996 (GRCm39) |
Q92E |
probably damaging |
Het |
|
| Other mutations in Dph5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Dph5
|
APN |
3 |
115,693,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2018-06-25 |
Incidental Mutation