Incidental Mutation 'IGL01021:Dph7'
| ID |
53463 |
| 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: 0.084)
|
| Stock # |
IGL01021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24852412-24862175 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 24861935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028351]
[ENSMUST00000045295]
[ENSMUST00000045604]
[ENSMUST00000124383]
[ENSMUST00000126909]
[ENSMUST00000135339]
[ENSMUST00000137913]
[ENSMUST00000152777]
[ENSMUST00000194392]
[ENSMUST00000153618]
|
| AlphaFold |
Q9CYU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028351
AA Change: H449Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: H449Q
| 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 null
Transcript: ENSMUST00000045295
|
| SMART Domains |
Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
66 |
N/A |
INTRINSIC |
|
cNMP
|
170 |
295 |
2.06e-12 |
SMART |
|
low complexity region
|
439 |
444 |
N/A |
INTRINSIC |
|
cNMP
|
481 |
600 |
1.16e-6 |
SMART |
|
cNMP
|
603 |
716 |
1.55e-7 |
SMART |
|
Pfam:Patatin
|
950 |
1116 |
3.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045604
|
| SMART Domains |
Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-L27
|
13 |
125 |
1.3e-47 |
PFAM |
|
| 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: ENSMUST00000137913
|
| SMART Domains |
Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
40 |
N/A |
INTRINSIC |
|
Pfam:cNMP_binding
|
162 |
200 |
2.7e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146382
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152777
|
| SMART Domains |
Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
89 |
179 |
4.98e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194392
|
| SMART Domains |
Protein: ENSMUSP00000141974
Gene: ENSMUSG00000036850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-L27
|
56 |
98 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153618
|
| SMART Domains |
Protein: ENSMUSP00000117428
Gene: ENSMUSG00000036833
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
64 |
N/A |
INTRINSIC |
|
| 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 |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
| B3galt5 |
C |
A |
16: 96,116,923 (GRCm39) |
H185Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
| Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
| Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,608,013 (GRCm39) |
M912V |
probably benign |
Het |
| Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,357 (GRCm39) |
I75V |
possibly damaging |
Het |
| Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,888,182 (GRCm39) |
S31C |
probably damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,050,343 (GRCm39) |
S258P |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
| Usp6nl |
T |
A |
2: 6,429,198 (GRCm39) |
M220K |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,343,771 (GRCm39) |
T485A |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly 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 |
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation