Incidental Mutation 'IGL01021:Dph7'
| ID | 53463 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Dph7
|
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| Ensembl Gene |
ENSMUSG00000026975 |
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| Gene Name | diphthamine biosynethesis 7 |
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| Synonyms | 2810443J12Rik, Wdr85 |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.065)
|
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| Stock # | IGL01021
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 2 |
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| Chromosomal Location | 24962400-24972163 bp(+) (GRCm38) |
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| Type of Mutation | splice site |
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| DNA Base Change (assembly) |
T to G
at 24971923 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000117428
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028351]
[ENSMUST00000045295]
[ENSMUST00000045604]
[ENSMUST00000124383]
[ENSMUST00000126909]
[ENSMUST00000135339]
[ENSMUST00000137913]
[ENSMUST00000152777]
[ENSMUST00000153618]
[ENSMUST00000194392]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028351
AA Change: H449Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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| 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 |
|
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| Predicted Effect |
probably null
Transcript: ENSMUST00000045295
|
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| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000045604
|
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| SMART Domains |
Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-L27
|
13 |
125 |
1.3e-47 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000124383
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000126909
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000135339
|
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| SMART Domains |
Protein: ENSMUSP00000142067
Gene: ENSMUSG00000026975
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000137913
|
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| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139031
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139643
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146382
|
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| Predicted Effect |
probably null
Transcript: ENSMUST00000152777
|
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| SMART Domains |
Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
89 |
179 |
4.98e0 |
SMART |
|
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| Predicted Effect |
probably null
Transcript: ENSMUST00000153618
|
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| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000194392
|
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| SMART Domains |
Protein: ENSMUSP00000141974
Gene: ENSMUSG00000036850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-L27
|
56 |
98 |
1.1e-12 |
PFAM |
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 125,318,676 |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,642,114 |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,225,373 |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,635,161 |
|
probably null |
Het |
| B3galt5 |
C |
A |
16: 96,315,723 |
H185Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,838,173 |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,666,332 |
Y700* |
probably null |
Het |
| Fcho1 |
A |
T |
8: 71,713,523 |
Y354* |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,777,669 |
M912V |
probably benign |
Het |
| Fpgt |
T |
A |
3: 155,091,492 |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 74,074,120 |
I75V |
possibly damaging |
Het |
| Gm10264 |
G |
A |
12: 88,329,272 |
G7R |
unknown |
Het |
| Gm3278 |
G |
T |
14: 4,895,222 |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,127,030 |
I205V |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,740,369 |
S31C |
probably damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,304,881 |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 114,997,000 |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,938,260 |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,338,374 |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,637,162 |
I2533F |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,003,560 |
S258P |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,796,334 |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 109,537,993 |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,486,620 |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,918,036 |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,847,406 |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,551,272 |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,762,928 |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,934,187 |
Y33* |
probably null |
Het |
| Usp6nl |
T |
A |
2: 6,424,387 |
M220K |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,618,904 |
T782I |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,453,759 |
T485A |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,170,166 |
I840V |
possibly damaging |
Het |
|
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| Other mutations in Dph7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00828:Dph7
|
APN |
2 |
24971643 |
missense |
probably benign |
0.00 |
|
IGL01322:Dph7
|
APN |
2 |
24965617 |
missense |
possibly damaging |
0.85 |
|
IGL02393:Dph7
|
APN |
2 |
24966597 |
missense |
possibly damaging |
0.89 |
|
IGL03286:Dph7
|
APN |
2 |
24966616 |
missense |
probably damaging |
1.00 |
|
R0614:Dph7
|
UTSW |
2 |
24968956 |
critical splice donor site |
probably null |
|
|
R1169:Dph7
|
UTSW |
2 |
24966571 |
missense |
probably benign |
0.06 |
|
R1696:Dph7
|
UTSW |
2 |
24969680 |
critical splice donor site |
probably null |
|
|
R2000:Dph7
|
UTSW |
2 |
24971641 |
missense |
probably benign |
0.03 |
|
R4274:Dph7
|
UTSW |
2 |
24963500 |
missense |
possibly damaging |
0.66 |
|
R4738:Dph7
|
UTSW |
2 |
24963131 |
missense |
possibly damaging |
0.91 |
|
R4740:Dph7
|
UTSW |
2 |
24963131 |
missense |
possibly damaging |
0.91 |
|
R5475:Dph7
|
UTSW |
2 |
24968957 |
splice site |
probably null |
|
|
R6019:Dph7
|
UTSW |
2 |
24963540 |
nonsense |
probably null |
|
|
R6645:Dph7
|
UTSW |
2 |
24965651 |
missense |
probably benign |
0.02 |
|
R7443:Dph7
|
UTSW |
2 |
24962493 |
missense |
probably benign |
|
|
R7570:Dph7
|
UTSW |
2 |
24965630 |
missense |
probably damaging |
1.00 |
|
R7920:Dph7
|
UTSW |
2 |
24971612 |
missense |
probably benign |
|
|
R8135:Dph7
|
UTSW |
2 |
24969544 |
missense |
probably benign |
0.02 |
|
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| Posted On | 2013-06-28 |
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