Incidental Mutation 'IGL01872:Dph1'
| ID |
178747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dph1
|
| Ensembl Gene |
ENSMUSG00000078789 |
| Gene Name |
diphthamide biosynthesis 1 |
| Synonyms |
Dph2l1, 4930488F09Rik, Ovca1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01872
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75068469-75081309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 75072167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 220
(F220C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044949]
[ENSMUST00000071562]
[ENSMUST00000139958]
|
| AlphaFold |
Q5NCQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044949
AA Change: F234C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
AA Change: F234C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Diphthamide_syn
|
76 |
377 |
5.3e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071562
|
| SMART Domains |
Protein: ENSMUSP00000071493
Gene: ENSMUSG00000038268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FSH1
|
1 |
216 |
1.2e-57 |
PFAM |
|
Pfam:Abhydrolase_2
|
60 |
225 |
2.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134252
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139958
AA Change: F220C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116537
Gene: ENSMUSG00000078789
AA Change: F220C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Diphthamide_syn
|
62 |
276 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156489
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,058,120 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,437,824 (GRCm39) |
S1657P |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,507,818 (GRCm39) |
N371S |
probably benign |
Het |
| Cby1 |
T |
A |
15: 79,549,943 (GRCm39) |
W59R |
probably damaging |
Het |
| Chmp1a |
A |
T |
8: 123,932,976 (GRCm39) |
L159Q |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,268,121 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,956,275 (GRCm39) |
I603T |
probably benign |
Het |
| Epha4 |
T |
A |
1: 77,359,676 (GRCm39) |
M726L |
probably benign |
Het |
| Eps8l1 |
C |
T |
7: 4,475,295 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
C |
A |
5: 137,611,987 (GRCm39) |
R313L |
probably damaging |
Het |
| Fgf4 |
C |
T |
7: 144,415,995 (GRCm39) |
R119* |
probably null |
Het |
| Grb10 |
T |
C |
11: 11,920,547 (GRCm39) |
T24A |
probably damaging |
Het |
| Ifi27l2a |
C |
T |
12: 103,401,719 (GRCm39) |
A2V |
probably damaging |
Het |
| Ipmk |
T |
A |
10: 71,208,706 (GRCm39) |
M165K |
probably damaging |
Het |
| Kcnk2 |
C |
T |
1: 188,988,780 (GRCm39) |
G266R |
probably damaging |
Het |
| Mak |
A |
C |
13: 41,210,131 (GRCm39) |
M35R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,142,545 (GRCm39) |
I120F |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,381,814 (GRCm39) |
V1423A |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,368 (GRCm39) |
*506Q |
probably null |
Het |
| Opn4 |
T |
A |
14: 34,319,166 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
T |
C |
7: 140,284,176 (GRCm39) |
L4P |
possibly damaging |
Het |
| Or52ab2 |
T |
C |
7: 102,970,179 (GRCm39) |
V187A |
probably benign |
Het |
| Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
| Otof |
G |
A |
5: 30,536,598 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,588,018 (GRCm39) |
|
probably null |
Het |
| Pik3r1 |
A |
T |
13: 101,825,625 (GRCm39) |
D87E |
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,660,914 (GRCm39) |
V883E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,154 (GRCm39) |
S496G |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,807,473 (GRCm39) |
R427G |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,589,202 (GRCm39) |
S415G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,981 (GRCm39) |
S458P |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,748,167 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,431,623 (GRCm39) |
V639L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,729,077 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps54 |
G |
A |
11: 21,256,940 (GRCm39) |
A683T |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,164 (GRCm39) |
N123I |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,965,783 (GRCm39) |
V624A |
probably benign |
Het |
|
| Other mutations in Dph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Dph1
|
APN |
11 |
75,071,775 (GRCm39) |
splice site |
probably benign |
|
|
IGL01317:Dph1
|
APN |
11 |
75,071,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02036:Dph1
|
APN |
11 |
75,074,991 (GRCm39) |
splice site |
probably null |
|
|
IGL02386:Dph1
|
APN |
11 |
75,074,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02658:Dph1
|
APN |
11 |
75,071,461 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02985:Dph1
|
APN |
11 |
75,074,419 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0610:Dph1
|
UTSW |
11 |
75,076,783 (GRCm39) |
splice site |
probably benign |
|
|
R1847:Dph1
|
UTSW |
11 |
75,070,557 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1878:Dph1
|
UTSW |
11 |
75,075,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2037:Dph1
|
UTSW |
11 |
75,076,679 (GRCm39) |
splice site |
probably null |
|
|
R4569:Dph1
|
UTSW |
11 |
75,069,721 (GRCm39) |
unclassified |
probably benign |
|
|
R4666:Dph1
|
UTSW |
11 |
75,072,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6033:Dph1
|
UTSW |
11 |
75,082,023 (GRCm39) |
start gained |
probably benign |
|
|
R6033:Dph1
|
UTSW |
11 |
75,082,023 (GRCm39) |
start gained |
probably benign |
|
|
R6451:Dph1
|
UTSW |
11 |
75,072,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7149:Dph1
|
UTSW |
11 |
75,070,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7698:Dph1
|
UTSW |
11 |
75,081,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7776:Dph1
|
UTSW |
11 |
75,081,272 (GRCm39) |
missense |
probably benign |
|
|
R9299:Dph1
|
UTSW |
11 |
75,070,622 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9563:Dph1
|
UTSW |
11 |
75,076,825 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2014-05-07 |
Incidental Mutation