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 |