Incidental Mutation 'R1142:Dph6'
| ID |
102141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dph6
|
| Ensembl Gene |
ENSMUSG00000057147 |
| Gene Name |
diphthamine biosynthesis 6 |
| Synonyms |
5730421E18Rik, Atpbd4, Diphthine ammonia ligase |
| MMRRC Submission |
039215-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1142 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
114346897-114485445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114478260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 27
(I27T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028640]
[ENSMUST00000055144]
[ENSMUST00000102542]
|
| AlphaFold |
Q9CQ28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028640
AA Change: I27T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147
AA Change: I27T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_4
|
1 |
189 |
3.7e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055144
AA Change: I27T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060730
Gene: ENSMUSG00000057147
AA Change: I27T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Diphthami_syn_2
|
1 |
242 |
2e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102542
AA Change: I27T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099601
Gene: ENSMUSG00000057147
AA Change: I27T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_4
|
1 |
242 |
1.1e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150447
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
G |
19: 40,539,657 (GRCm39) |
S773P |
probably damaging |
Het |
| Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
| Apobr |
A |
G |
7: 126,186,654 (GRCm39) |
M722V |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,811,516 (GRCm39) |
S668P |
unknown |
Het |
| Cxadr |
A |
G |
16: 78,131,727 (GRCm39) |
T238A |
probably benign |
Het |
| Ephx3 |
G |
A |
17: 32,404,248 (GRCm39) |
H324Y |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,302,252 (GRCm39) |
K447* |
probably null |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Hsp90ab1 |
C |
A |
17: 45,879,900 (GRCm39) |
E539* |
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,061,124 (GRCm39) |
L1159P |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,830,733 (GRCm39) |
I1490T |
probably damaging |
Het |
| Met |
T |
A |
6: 17,527,182 (GRCm39) |
C544* |
probably null |
Het |
| Pdlim3 |
C |
A |
8: 46,371,998 (GRCm39) |
R348S |
probably damaging |
Het |
| Phkg1 |
A |
G |
5: 129,902,073 (GRCm39) |
F101L |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,833,579 (GRCm39) |
M91V |
probably damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,850,744 (GRCm39) |
I376T |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,481 (GRCm39) |
N221S |
probably benign |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,705 (GRCm39) |
W791R |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,553,424 (GRCm39) |
Y284H |
probably benign |
Het |
|
| Other mutations in Dph6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Dph6
|
APN |
2 |
114,478,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01687:Dph6
|
APN |
2 |
114,475,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL01775:Dph6
|
APN |
2 |
114,348,776 (GRCm39) |
splice site |
probably benign |
|
|
IGL02251:Dph6
|
APN |
2 |
114,366,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
grower
|
UTSW |
2 |
114,475,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Dph6
|
UTSW |
2 |
114,353,525 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0049:Dph6
|
UTSW |
2 |
114,353,525 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1240:Dph6
|
UTSW |
2 |
114,475,199 (GRCm39) |
splice site |
probably null |
|
|
R3415:Dph6
|
UTSW |
2 |
114,348,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5679:Dph6
|
UTSW |
2 |
114,398,422 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7623:Dph6
|
UTSW |
2 |
114,485,379 (GRCm39) |
start gained |
probably benign |
|
|
R7723:Dph6
|
UTSW |
2 |
114,475,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Dph6
|
UTSW |
2 |
114,478,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Dph6
|
UTSW |
2 |
114,353,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Dph6
|
UTSW |
2 |
114,399,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation